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 | 104946383 | G | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.906 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9205/18335 | 9068/17388 | 3023/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946418 | T | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 352 | 0.0057 | 0 | c.903 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9170/18335 | 9033/17388 | 3011/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946418 | T | G | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 352 | 0.0057 | 0 | c.903 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9170/18335 | 9033/17388 | 3011/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946447 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.900 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9141/18335 | 9004/17388 | 3002/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946452 | G | A | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.899 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9136/18335 | 8999/17388 | 3000/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946455 | A | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.899 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9133/18335 | 8996/17388 | 2999/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946527 | T | C | missense_variant | MODERATE | NA18906.hp2 | a0099 | a0099c0145 | a0099c0145t0003 | a0099c0145t0003g0139 | 1 | 354 | 0.0028 | 0 | c.892 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9061/18335 | 8924/17388 | 2975/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946575 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.887 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9013/18335 | 8876/17388 | 2959/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946582 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.886 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9006/18335 | 8869/17388 | 2957/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946597 | T | C | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.885 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8991/18335 | 8854/17388 | 2952/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946606 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.884 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8982/18335 | 8845/17388 | 2949/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946621 | C | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.883 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8967/18335 | 8830/17388 | 2944/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946624 | T | C | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.882 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8964/18335 | 8827/17388 | 2943/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946629 | A | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.882 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8959/18335 | 8822/17388 | 2941/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946650 | G | A | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.880 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8938/18335 | 8801/17388 | 2934/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946658 | C | G | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 352 | 0.0057 | 0 | c.879 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8930/18335 | 8793/17388 | 2931/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946663 | C | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.878 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8925/18335 | 8788/17388 | 2930/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946669 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.878 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8919/18335 | 8782/17388 | 2928/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946671 | C | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.878 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8917/18335 | 8780/17388 | 2927/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946699 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.875 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8889/18335 | 8752/17388 | 2918/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946703 | T | C | missense_variant | MODERATE | HG02273.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0064 | a0032c0021a0064c0079 | a0032c0021t0009a0064c0079t0002 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0064c0079t0002g0085 |
3 | 354 | 0.0085 | 0 | c.874 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8885/18335 | 8748/17388 | 2916/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946705 | T | C | missense_variant | MODERATE | HG02273.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0064 | a0032c0021a0064c0079 | a0032c0021t0009a0064c0079t0002 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0064c0079t0002g0085 |
3 | 354 | 0.0085 | 0 | c.874 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8883/18335 | 8746/17388 | 2916/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946719 | A | C | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.873 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8869/18335 | 8732/17388 | 2911/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946731 | G | C | missense_variant | MODERATE | HG02486.hp2 HG02976.hp2 |
a0068a0085 | a0068c0127a0085c0084 | a0068c0127t0002a0085c0084t0002 | a0068c0127t0002g0145 a0085c0084t0002g0100 |
2 | 354 | 0.0056 | 0 | c.872 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8857/18335 | 8720/17388 | 2907/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946739 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.871 others(4): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8849/18335 | 8712/17388 | 2904/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946753 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.869 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8835/18335 | 8698/17388 | 2900/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946756 | C | A | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.869 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8832/18335 | 8695/17388 | 2899/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946770 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.868 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8818/18335 | 8681/17388 | 2894/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946796 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.865 others(4): Show |
p.His others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8792/18335 | 8655/17388 | 2885/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946816 | C | G | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.863 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8772/18335 | 8635/17388 | 2879/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946822 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.862 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8766/18335 | 8629/17388 | 2877/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946840 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.861 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8748/18335 | 8611/17388 | 2871/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946844 | T | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.860 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8744/18335 | 8607/17388 | 2869/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946846 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.860 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8742/18335 | 8605/17388 | 2869/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946861 | G | C | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.859 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8727/18335 | 8590/17388 | 2864/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946867 | G | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(186): Show |
a0002a0003a0004others(74): Show | a0002c0003a0002c0005a0002c0036others(93): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(96): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(141): Show |
189 | 354 | 0.5339 | 0 | c.858 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8721/18335 | 8584/17388 | 2862/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946870 | T | G | missense_variant | MODERATE | HG02027.hp2 HG02132.hp1 HG02896.hp1 others(1): Show |
a0027a0032 | a0027c0034a0032c0021 | a0027c0034t0002a0032c0021t0009 | a0027c0034t0002g0200 a0027c0034t0002g0201 a0032c0021t0009g0058 others(1): Show |
4 | 354 | 0.0113 | 0 | c.858 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8718/18335 | 8581/17388 | 2861/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946906 | A | G | missense_variant | MODERATE | HG01167.hp2 HG02630.hp2 HG02896.hp1 others(4): Show |
a0032a0034a0046others(2): Show | a0032c0021a0034c0031a0046c0102others(2): Show | a0032c0021t0009a0034c0031t0002a0046c0102t0002others(2): Show | a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 others(4): Show |
7 | 354 | 0.0198 | 0 | c.854 others(4): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8682/18335 | 8545/17388 | 2849/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946908 | C | T | missense_variant | MODERATE | NA19005.hp1 | a0109 | a0109c0117 | a0109c0117t0005 | a0109c0117t0005g0167 | 1 | 354 | 0.0028 | 0 | c.854 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8680/18335 | 8543/17388 | 2848/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946911 | C | A | missense_variant | MODERATE | HG01167.hp2 HG02630.hp2 HG02896.hp1 others(5): Show |
a0032a0034a0046others(3): Show | a0032c0021a0034c0031a0046c0102others(3): Show | a0032c0021t0009a0034c0031t0002a0046c0102t0002others(3): Show | a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 others(5): Show |
8 | 354 | 0.0226 | 0 | c.854 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8677/18335 | 8540/17388 | 2847/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946912 | C | T | missense_variant | MODERATE | HG01167.hp2 HG03195.hp2 HG03209.hp1 others(1): Show |
a0034a0046a0088 | a0034c0031a0046c0102a0088c0104 | a0034c0031t0002a0046c0102t0002a0088c0104t0002 | a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show |
4 | 354 | 0.0113 | 0 | c.853 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8676/18335 | 8539/17388 | 2847/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946913 | G | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.853 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8675/18335 | 8538/17388 | 2846/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946929 | 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.852 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8659/18335 | 8522/17388 | 2841/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946932 | T | 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.851 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8656/18335 | 8519/17388 | 2840/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946950 | G | A | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.850 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8638/18335 | 8501/17388 | 2834/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946953 | T | G | missense_variant | MODERATE | HG02647.hp1 HG02809.hp1 |
a0021a0080 | a0021c0062a0080c0061 | a0021c0062t0001a0080c0061t0001 | a0021c0062t0001g0107 a0080c0061t0001g0106 |
2 | 354 | 0.0056 | 0 | c.849 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8635/18335 | 8498/17388 | 2833/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946955 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 352 | 0.0057 | 0 | c.849 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8633/18335 | 8496/17388 | 2832/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946963 | T | C | missense_variant | MODERATE | HG02809.hp2 HG02965.hp2 HG03453.hp1 |
a0081a0083a0090 | a0081c0124a0083c0073a0090c0098 | a0081c0124t0002a0083c0073t0001a0090c0098t0002 | a0081c0124t0002g0246 a0083c0073t0001g0094 a0090c0098t0002g0203 |
3 | 354 | 0.0085 | 0 | c.848 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8625/18335 | 8488/17388 | 2830/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946965 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.848 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8623/18335 | 8486/17388 | 2829/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946981 | C | T | missense_variant | MODERATE | HG01167.hp1 HG01169.hp1 HG02896.hp1 others(7): Show |
a0001a0015a0023others(2): Show | a0001c0040a0015c0014a0023c0016others(2): Show | a0001c0040t0001a0015c0014t0003a0023c0016t0001others(2): Show | a0001c0040t0001g0029 a0015c0014t0003g0079 a0015c0014t0003g0126 others(6): Show |
10 | 354 | 0.0282 | 0 | c.847 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8607/18335 | 8470/17388 | 2824/5795 | chr14 | TogoVar |