view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHNAK2_chr14_104932253_104983374 | 104947016 | T | A | missense_variant | MODERATE | HG01255.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
a0020a0050a0077 | a0020c0032a0050c0106a0077c0105 | a0020c0032t0002a0050c0106t0002a0077c0105t0002 | a0020c0032t0002g0119 a0020c0032t0002g0249 a0050c0106t0002g0250 others(1): Show |
4 | 354 | 0.0113 | 0 | c.843 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8572/18335 | 8435/17388 | 2812/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947035 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.841 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8553/18335 | 8416/17388 | 2806/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947037 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.841 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8551/18335 | 8414/17388 | 2805/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947073 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.837 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8515/18335 | 8378/17388 | 2793/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947076 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.837 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8512/18335 | 8375/17388 | 2792/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947091 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.836 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8497/18335 | 8360/17388 | 2787/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947101 | G | C | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.835 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8487/18335 | 8350/17388 | 2784/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947116 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.833 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8472/18335 | 8335/17388 | 2779/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947122 | A | G | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.832 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8466/18335 | 8329/17388 | 2777/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947131 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.832 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8457/18335 | 8320/17388 | 2774/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947134 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.831 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8454/18335 | 8317/17388 | 2773/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947145 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.830 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8443/18335 | 8306/17388 | 2769/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947148 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.830 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8440/18335 | 8303/17388 | 2768/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947179 | C | G | missense_variant | MODERATE | HG02630.hp1 HG02630.hp2 HG02896.hp1 others(2): Show |
a0032a0074a0075others(1): Show | a0032c0021a0074c0103a0075c0063others(1): Show | a0032c0021t0009a0074c0103t0002a0075c0063t0001others(1): Show | a0032c0021t0009g0058 a0032c0021t0009g0059 a0074c0103t0002g0080 others(2): Show |
5 | 354 | 0.0141 | 0 | c.827 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8409/18335 | 8272/17388 | 2758/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947180 | G | C | missense_variant | MODERATE | HG02630.hp1 HG02630.hp2 HG02896.hp1 others(2): Show |
a0032a0074a0075others(1): Show | a0032c0021a0074c0103a0075c0063others(1): Show | a0032c0021t0009a0074c0103t0002a0075c0063t0001others(1): Show | a0032c0021t0009g0058 a0032c0021t0009g0059 a0074c0103t0002g0080 others(2): Show |
5 | 354 | 0.0141 | 0 | c.827 others(4): Show |
p.Asn others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8408/18335 | 8271/17388 | 2757/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947194 | C | T | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.825 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8394/18335 | 8257/17388 | 2753/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947214 | A | T | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.823 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8374/18335 | 8237/17388 | 2746/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947224 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.822 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8364/18335 | 8227/17388 | 2743/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947229 | A | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.822 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8359/18335 | 8222/17388 | 2741/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947234 | G | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.821 others(4): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8354/18335 | 8217/17388 | 2739/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947248 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.820 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8340/18335 | 8203/17388 | 2735/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947251 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 HG03130.hp1 |
a0032a0086 | a0032c0021a0086c0099 | a0032c0021t0009a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216 |
3 | 353 | 0.0085 | 0 | c.820 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8337/18335 | 8200/17388 | 2734/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947292 | T | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.815 others(4): Show |
p.His others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8296/18335 | 8159/17388 | 2720/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947301 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.815 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8287/18335 | 8150/17388 | 2717/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947308 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.814 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8280/18335 | 8143/17388 | 2715/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947311 | C | G | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.814 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8277/18335 | 8140/17388 | 2714/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947320 | G | T | missense_variant | MODERATE | HG00733.hp1 HG02109.hp1 |
a0042a0062 | a0042c0143a0062c0125 | a0042c0143t0002a0062c0125t0002 | a0042c0143t0002g0076 a0062c0125t0002g0078 |
2 | 354 | 0.0056 | 0 | c.813 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8268/18335 | 8131/17388 | 2711/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947322 | C | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.812 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8266/18335 | 8129/17388 | 2710/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947339 | T | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.811 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8249/18335 | 8112/17388 | 2704/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947341 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.811 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8247/18335 | 8110/17388 | 2704/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947356 | G | C | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.809 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8232/18335 | 8095/17388 | 2699/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947365 | T | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.808 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8223/18335 | 8086/17388 | 2696/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947374 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.807 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8214/18335 | 8077/17388 | 2693/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947398 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.805 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8190/18335 | 8053/17388 | 2685/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947401 | G | A | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.805 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8187/18335 | 8050/17388 | 2684/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947406 | A | C | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.804 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8182/18335 | 8045/17388 | 2682/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947407 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.804 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8181/18335 | 8044/17388 | 2682/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947424 | A | G | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0075 | a0032c0021a0075c0063 | a0032c0021t0009a0075c0063t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 |
3 | 354 | 0.0085 | 0 | c.802 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8164/18335 | 8027/17388 | 2676/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947427 | T | G | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0075 | a0032c0021a0075c0063 | a0032c0021t0009a0075c0063t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 |
3 | 354 | 0.0085 | 0 | c.802 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8161/18335 | 8024/17388 | 2675/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947440 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.801 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8148/18335 | 8011/17388 | 2671/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947442 | A | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 HG03130.hp1 |
a0032a0086 | a0032c0021a0086c0099 | a0032c0021t0009a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216 |
3 | 354 | 0.0085 | 0 | c.800 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8146/18335 | 8009/17388 | 2670/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947445 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.800 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8143/18335 | 8006/17388 | 2669/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947454 | G | A | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG02698.hp2 others(8): Show |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(5): Show |
11 | 354 | 0.0311 | 0 | c.799 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8134/18335 | 7997/17388 | 2666/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947457 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.799 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8131/18335 | 7994/17388 | 2665/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947458 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.799 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8130/18335 | 7993/17388 | 2665/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947476 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.797 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8112/18335 | 7975/17388 | 2659/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947530 | C | T | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.792 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8058/18335 | 7921/17388 | 2641/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947532 | C | G | missense_variant | MODERATE | HG03195.hp2 NA20129.hp1 |
a0034 | a0034c0031 | a0034c0031t0002 | a0034c0031t0002g0169 a0034c0031t0002g0188 |
2 | 351 | 0.0057 | 0 | c.791 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8056/18335 | 7919/17388 | 2640/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947532 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0075 | a0032c0021a0075c0063 | a0032c0021t0009a0075c0063t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 |
3 | 352 | 0.0085 | 0 | c.791 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8056/18335 | 7919/17388 | 2640/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947537 | G | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.791 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8051/18335 | 7914/17388 | 2638/5795 | chr14 | TogoVar |