regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 104948091 | C | G | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.736 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7497/18335 | 7360/17388 | 2454/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948106 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0028a0064a0133 | a0028c0019a0064c0165a0133c0097 | a0028c0019t0009a0064c0165t0001a0133c0097t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0064c0165t0001g0247others(1): Show | 4 | 356 | 0.0112 | 0 | c.734 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7482/18335 | 7345/17388 | 2449/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948109 | T | C | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.734 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7479/18335 | 7342/17388 | 2448/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948112 | G | A | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.733 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7476/18335 | 7339/17388 | 2447/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948114 | T | A | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.733 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7474/18335 | 7337/17388 | 2446/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948121 | C | T | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.733 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7467/18335 | 7330/17388 | 2444/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948137 | C | T | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.731 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7451/18335 | 7314/17388 | 2438/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948138 | A | G | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0028a0064a0133 | a0028c0019a0064c0165a0133c0097 | a0028c0019t0009a0064c0165t0001a0133c0097t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0064c0165t0001g0247others(1): Show | 4 | 356 | 0.0112 | 0 | c.731 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7450/18335 | 7313/17388 | 2438/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948143 | G | T | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.730 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7445/18335 | 7308/17388 | 2436/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948147 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.730 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7441/18335 | 7304/17388 | 2435/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948148 | T | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.730 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7440/18335 | 7303/17388 | 2435/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948184 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.726 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7404/18335 | 7267/17388 | 2423/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948190 | T | G | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.726 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7398/18335 | 7261/17388 | 2421/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948204 | A | C | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.724 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7384/18335 | 7247/17388 | 2416/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948211 | C | T | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.724 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7377/18335 | 7240/17388 | 2414/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948214 | T | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.723 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7374/18335 | 7237/17388 | 2413/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948222 | T | C | missense_variant | MODERATE | HG02258.hp2 HG02451.hp2 HG02559.hp2 others(12): Show |
a0032a0034a0102others(10): Show | a0032c0050a0034c0048a0102c0064others(10): Show | a0032c0050t0003a0034c0048t0003a0102c0064t0003others(10): Show | a0032c0050t0003g0136a0032c0050t0003g0145a0034c0048t0003g0023others(11): Show | 15 | 356 | 0.0421 | 0 | c.722 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7366/18335 | 7229/17388 | 2410/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948241 | G | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.721 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7347/18335 | 7210/17388 | 2404/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948270 | C | T | missense_variant | MODERATE | HG03453.hp1 | a0062 | a0062c0167 | a0062c0167t0002 | a0062c0167t0002g0230 | 1 | 356 | 0.0028 | 0 | c.718 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7318/18335 | 7181/17388 | 2394/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948282 | G | T | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.716 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7306/18335 | 7169/17388 | 2390/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948292 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(178): Show |
a0001a0004a0006others(105): Show | a0001c0001a0001c0003a0001c0045others(122): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(122): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(146): Show | 181 | 356 | 0.5084 | 0 | c.715 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7296/18335 | 7159/17388 | 2387/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948301 | C | G | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.715 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7287/18335 | 7150/17388 | 2384/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948329 | G | T | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.712 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7259/18335 | 7122/17388 | 2374/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948331 | C | G | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.712 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7257/18335 | 7120/17388 | 2374/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948346 | G | C | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.710 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7242/18335 | 7105/17388 | 2369/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948349 | C | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0064a0133 | a0064c0165a0133c0097 | a0064c0165t0001a0133c0097t0001 | a0064c0165t0001g0247a0133c0097t0001g0116 | 2 | 356 | 0.0056 | 0 | c.710 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7239/18335 | 7102/17388 | 2368/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948355 | G | T | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.709 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7233/18335 | 7096/17388 | 2366/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948364 | T | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.708 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7224/18335 | 7087/17388 | 2363/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948388 | G | A | missense_variant | MODERATE | HG00099.hp2 HG03130.hp1 |
a0064a0120 | a0064c0165a0120c0214 | a0064c0165t0001a0120c0214t0002 | a0064c0165t0001g0247a0120c0214t0002g0062 | 2 | 356 | 0.0056 | 0 | c.706 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7200/18335 | 7063/17388 | 2355/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948396 | A | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.705 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7192/18335 | 7055/17388 | 2352/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948397 | C | T | missense_variant | MODERATE | HG02257.hp1 | a0071 | a0071c0177 | a0071c0177t0002 | a0071c0177t0002g0144 | 1 | 356 | 0.0028 | 0 | c.705 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7191/18335 | 7054/17388 | 2352/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948398 | G | T | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.705 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7190/18335 | 7053/17388 | 2351/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948400 | C | T | missense_variant | MODERATE | HG03017.hp1 | a0147 | a0147c0088 | a0147c0088t0001 | a0147c0088t0001g0082 | 1 | 356 | 0.0028 | 0 | c.705 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7188/18335 | 7051/17388 | 2351/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948413 | C | G | missense_variant | MODERATE | HG02257.hp1 | a0071 | a0071c0177 | a0071c0177t0002 | a0071c0177t0002g0144 | 1 | 356 | 0.0028 | 0 | c.703 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7175/18335 | 7038/17388 | 2346/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948414 | A | G | missense_variant | MODERATE | HG02257.hp1 HG02630.hp2 HG03130.hp1 |
a0064a0071a0133 | a0064c0165a0071c0177a0133c0097 | a0064c0165t0001a0071c0177t0002a0133c0097t0001 | a0064c0165t0001g0247a0071c0177t0002g0144a0133c0097t0001g0116 | 3 | 356 | 0.0084 | 0 | c.703 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7174/18335 | 7037/17388 | 2346/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948418 | C | G | missense_variant | MODERATE | HG02257.hp1 | a0071 | a0071c0177 | a0071c0177t0002 | a0071c0177t0002g0144 | 1 | 356 | 0.0028 | 0 | c.703 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7170/18335 | 7033/17388 | 2345/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948429 | G | A | missense_variant | MODERATE | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(1): Show |
a0064a0071a0133others(1): Show | a0064c0165a0071c0177a0133c0097others(1): Show | a0064c0165t0001a0071c0177t0002a0133c0097t0001others(1): Show | a0064c0165t0001g0247a0071c0177t0002g0144a0133c0097t0001g0116others(1): Show | 4 | 356 | 0.0112 | 0 | c.702 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7159/18335 | 7022/17388 | 2341/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948435 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.701 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7153/18335 | 7016/17388 | 2339/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948438 | T | G | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.701 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7150/18335 | 7013/17388 | 2338/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948453 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(185): Show |
a0001a0004a0006others(107): Show | a0001c0001a0001c0003a0001c0045others(124): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(125): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(150): Show | 188 | 356 | 0.5281 | 0 | c.699 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7135/18335 | 6998/17388 | 2333/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948474 | A | G | missense_variant | MODERATE | HG02257.hp1 HG02630.hp2 HG03130.hp1 others(1): Show |
a0064a0071a0133others(1): Show | a0064c0165a0071c0177a0133c0097others(1): Show | a0064c0165t0001a0071c0177t0002a0133c0097t0001others(1): Show | a0064c0165t0001g0247a0071c0177t0002g0144a0133c0097t0001g0116others(1): Show | 4 | 356 | 0.0112 | 0 | c.697 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7114/18335 | 6977/17388 | 2326/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948491 | C | A | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.696 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7097/18335 | 6960/17388 | 2320/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948501 | T | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.695 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7087/18335 | 6950/17388 | 2317/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948508 | C | A | missense_variant | MODERATE | HG03098.hp1 | a0079 | a0079c0183 | a0079c0183t0003 | a0079c0183t0003g0164 | 1 | 356 | 0.0028 | 0 | c.694 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7080/18335 | 6943/17388 | 2315/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948514 | C | T | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.693 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7074/18335 | 6937/17388 | 2313/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948520 | C | T | missense_variant | MODERATE | HG02257.hp1 | a0071 | a0071c0177 | a0071c0177t0002 | a0071c0177t0002g0144 | 1 | 356 | 0.0028 | 0 | c.693 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7068/18335 | 6931/17388 | 2311/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948535 | G | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.691 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7053/18335 | 6916/17388 | 2306/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948541 | T | G | missense_variant | MODERATE | HG02257.hp1 HG02630.hp2 HG03130.hp1 |
a0064a0071a0133 | a0064c0165a0071c0177a0133c0097 | a0064c0165t0001a0071c0177t0002a0133c0097t0001 | a0064c0165t0001g0247a0071c0177t0002g0144a0133c0097t0001g0116 | 3 | 356 | 0.0084 | 0 | c.691 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7047/18335 | 6910/17388 | 2304/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948556 | G | A | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.689 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7032/18335 | 6895/17388 | 2299/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104948573 | G | C | missense_variant | MODERATE | HG02257.hp1 | a0071 | a0071c0177 | a0071c0177t0002 | a0071c0177t0002g0144 | 1 | 356 | 0.0028 | 0 | c.687 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7015/18335 | 6878/17388 | 2293/5795 | chr14 | TogoVar |