17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80107727_80107733delinsAGCGGCG | CA2277812340 | GAA | c.858+5_858+11delinsAGCGGCG (n.858+5_858+11delinsAGCGGCG)
| |
17 | g.80107727_80107733dup | CA2277812344 | GAA | c.858+5_858+11dup (n.858+5_858+11dup)
| ClinVar dbSNP |
17 | g.80107727_80107734delinsAGCGGCGG | CA2277812343 | GAA | c.858+5_858+12delinsAGCGGCGG (n.858+5_858+12delinsAGCGGCGG)
| |
17 | g.80107728_80107733delinsAGCGGGC | CA919905406 | GAA | c.858+6_858+11delinsAGCGGGC (n.858+6_858+11delinsAGCGGGC)
| dbSNP |
17 | g.80107739_80107745dup | CA180075 | GAA | c.858+17_858+23dup (n.858+17_858+23dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107739_80107745del | CA8815034 | GAA | c.858+17_858+23del (n.858+17_858+23del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107733G>A | CA628018326 | GAA | c.858+11G>A (n.858+11G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107733G= | CA2277812350 | GAA | c.858+11G= (n.858+11G=)
| |
17 | g.80107734_80107735insTGG | CA8815042 | GAA | c.858+12_858+13insTGG (n.858+12_858+13insTGG)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107734G>A | CA2640280003 | GAA | c.858+12G>A (n.858+12G>A)
| gnomAD v4 |
17 | g.80107734G>C | CA775511394 | GAA | c.858+12G>C (n.858+12G>C)
| ClinVar dbSNP |
17 | g.80107734G= | CA2277812351 | GAA | c.858+12G= (n.858+12G=)
| |
17 | g.80107734_80107735insCG | CA2810576424 | GAA | c.858+12_858+13insCG (n.858+12_858+13insCG)
| |
17 | g.80107734_80107735insCAG | CA8815045 | GAA | c.858+12_858+13insCAG (n.858+12_858+13insCAG)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107736C= | CA2277812352 | GAA | c.858+14C= (n.858+14C=)
| |
17 | g.80107736C>T | CA8815046 | GAA | c.858+14C>T (n.858+14C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107737G>A | CA8815047 | GAA | c.858+15G>A (n.858+15G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107737G= | CA2277812353 | GAA | c.858+15G= (n.858+15G=)
| |
17 | g.80107739C= | CA2277812354 | GAA | c.858+17C= (n.858+17C=)
| |
17 | g.80107739C>G | CA2640280014 | GAA | c.858+17C>G (n.858+17C>G)
| gnomAD v4 |
17 | g.80107739C>T | CA8815048 | GAA | c.858+17C>T (n.858+17C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107740G>A | CA8815049 | GAA | c.858+18G>A (n.858+18G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107740G= | CA2277812355 | GAA | c.858+18G= (n.858+18G=)
| |
17 | g.80107741G>A | CA775511406 | GAA | c.858+19G>A (n.858+19G>A)
| dbSNP |
17 | g.80107741G= | CA2277812356 | GAA | c.858+19G= (n.858+19G=)
| |
17 | g.80107741G>T | CA628018338 | GAA | c.858+19G>T (n.858+19G>T)
| ClinVar dbSNP gnomAD v2 |
17 | g.80107742G>A | CA656889642 | GAA | c.858+20G>A (n.858+20G>A)
| COSMIC |
17 | g.80107742G>T | CA2739268464 | GAA | c.858+20G>T (n.858+20G>T)
| ClinVar |
17 | g.80107743C= | CA2277812357 | GAA | c.858+21C= (n.858+21C=)
| |
17 | g.80107743C>G | CA658795241 | GAA | c.858+21C>G (n.858+21C>G)
| |
17 | g.80107743C>T | CA8815050 | GAA | c.858+21C>T (n.858+21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107745_80107746insCGGTCGG | CA2640280024 | GAA | c.858+23_858+24insCGGTCGG (n.858+23_858+24insCGGTCGG)
| gnomAD v4 |
17 | g.80107744G>A | CA8815051 | GAA | c.858+22G>A (n.858+22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107744G= | CA2277812358 | GAA | c.858+22G= (n.858+22G=)
| |
17 | g.80107748dup | CA2832565440 | GAA | c.858+26dup (n.858+26dup)
| |
17 | g.80107745G>A | CA775511417 | GAA | c.858+23G>A (n.858+23G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107745G= | CA2277812359 | GAA | c.858+23G= (n.858+23G=)
| |
17 | g.80107745G>T | CA8815053 | GAA | c.858+23G>T (n.858+23G>T)
| dbSNP ExAC |
17 | g.80107745_80107746insCGGGCG | CA2640280029 | GAA | c.858+23_858+24insCGGGCG (n.858+23_858+24insCGGGCG)
| dbSNP gnomAD v4 |
17 | g.80107746_80107747insCGGGCGG | CA502402723 | GAA | c.858+24_858+25insCGGGCGG (n.858+24_858+25insCGGGCGG)
| |
17 | g.80107745_80107746insC | CA8815052 | GAA | c.858+23_858+24insC (n.858+23_858+24insC)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107746G>A | CA2640280032 | GAA | c.858+24G>A (n.858+24G>A)
| gnomAD v4 |
17 | g.80107746G>C | CA8815054 | GAA | c.858+24G>C (n.858+24G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80107746G= | CA2277812360 | GAA | c.858+24G= (n.858+24G=)
| |
17 | g.80107747G>A | CA2576413982 | GAA | c.858+25G>A (n.858+25G>A)
| |
17 | g.80107747G= | CA2277812361 | GAA | c.858+25G= (n.858+25G=)
| |
17 | g.80107747G>T | CA628018339 | GAA | c.858+25G>T (n.858+25G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107747_80107749dup | CA8815055 | GAA | c.858+25_858+27dup (n.858+25_858+27dup)
| dbSNP ExAC |
17 | g.80107748G>A | CA8815056 | GAA | c.858+26G>A (n.858+26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107748G>C | CA2810576427 | GAA | c.858+26G>C (n.858+26G>C)
| |
17 | g.80107748G= | CA2277812362 | GAA | c.858+26G= (n.858+26G=)
| |
17 | g.80107748G>T | CA8815057 | GAA | c.858+26G>T (n.858+26G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107750A= | CA2277812363 | GAA | c.858+28A= (n.858+28A=)
| |
17 | g.80107750A>C | CA8815059 | GAA | c.858+28A>C (n.858+28A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107750A>G | CA8815058 | GAA | c.858+28A>G (n.858+28A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107751C= | CA2277812364 | GAA | c.858+29C= (n.858+29C=)
| |
17 | g.80107751C>G | CA8815060 | GAA | c.858+29C>G (n.858+29C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107751C>T | CA2576413983 | GAA | c.858+29C>T (n.858+29C>T)
| gnomAD v4 |
17 | g.80107752T>A | CA2277812366 | GAA | c.858+30T>A (n.858+30T>A)
| dbSNP |
17 | g.80107752T>C | CA180076 | GAA | c.858+30T>C (n.858+30T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107752T>G | CA2277812365 | GAA | c.858+30T>G (n.858+30T>G)
| dbSNP |
17 | g.80107752T= | CA2277812367 | GAA | c.858+30T= (n.858+30T=)
| |
17 | g.80107753G>A | CA8815061 | GAA | c.858+31G>A (n.858+31G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107753G= | CA2277812368 | GAA | c.858+31G= (n.858+31G=)
| |
17 | g.80107753G>T | CA502402724 | GAA | c.858+31G>T (n.858+31G>T)
| |
17 | g.80107755G>A | CA8815062 | GAA | c.858+33G>A (n.858+33G>A)
| dbSNP ExAC |
17 | g.80107755G= | CA2277812369 | GAA | c.858+33G= (n.858+33G=)
| |
17 | g.80107757T>A | CA986705217 | GAA | c.858+35T>A (n.858+35T>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107757T= | CA2277812370 | GAA | c.858+35T= (n.858+35T=)
| |
17 | g.80107758G>A | CA2640280057 | GAA | c.858+36G>A (n.858+36G>A)
| gnomAD v4 |
17 | g.80107761G>A | CA628018340 | GAA | c.859-39G>A (n.859-39G>A)
| dbSNP gnomAD v2 |
17 | g.80107761G= | CA2277812371 | GAA | c.859-39G= (n.859-39G=)
| |
17 | g.80107761G>T | CA986705219 | GAA | c.859-39G>T (n.859-39G>T)
| gnomAD v3 gnomAD v4 |
17 | g.80107763G>A | CA628018341 | GAA | c.859-37G>A (n.859-37G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107763G= | CA2277812372 | GAA | c.859-37G= (n.859-37G=)
| |
17 | g.80107764C= | CA2277812373 | GAA | c.859-36C= (n.859-36C=)
| |
17 | g.80107764C>G | CA294889874 | GAA | c.859-36C>G (n.859-36C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107764C>T | CA8815063 | GAA | c.859-36C>T (n.859-36C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107765G>A | CA8815064 | GAA | c.859-35G>A (n.859-35G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107765G= | CA2277812374 | GAA | c.859-35G= (n.859-35G=)
| |
17 | g.80107766C>T | CA2576413984 | GAA | c.859-34C>T (n.859-34C>T)
| |
17 | g.80107768G>A | CA628018342 | GAA | c.859-32G>A (n.859-32G>A)
| dbSNP gnomAD v2 |
17 | g.80107768G= | CA2277812375 | GAA | c.859-32G= (n.859-32G=)
| |
17 | g.80107769G>A | CA294889883 | GAA | c.859-31G>A (n.859-31G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107769G= | CA2277812376 | GAA | c.859-31G= (n.859-31G=)
| |
17 | g.80107770T>A | CA2277812378 | GAA | c.859-30T>A (n.859-30T>A)
| dbSNP |
17 | g.80107770T= | CA2277812377 | GAA | c.859-30T= (n.859-30T=)
| |
17 | g.80107771G>T | CA2640280068 | GAA | c.859-29G>T (n.859-29G>T)
| gnomAD v4 |
17 | g.80107771_80107772delinsGC | CA2277812379 | GAA | c.859-29_859-28delinsGC (n.859-29_859-28delinsGC)
| |
17 | g.80107772del | CA628018343 | GAA | c.859-28del (n.859-28del)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107773T>A | CA2640280072 | GAA | c.859-27T>A (n.859-27T>A)
| gnomAD v4 |
17 | g.80107773T>C | CA2640280073 | GAA | c.859-27T>C (n.859-27T>C)
| gnomAD v4 |
17 | g.80107774G>A | CA2576413985 | GAA | c.859-26G>A (n.859-26G>A)
| gnomAD v4 |
17 | g.80107776A= | CA2277812380 | GAA | c.859-24A= (n.859-24A=)
| |
17 | g.80107776A>C | CA2277812381 | GAA | c.859-24A>C (n.859-24A>C)
| dbSNP |
17 | g.80107776A>T | CA2640280074 | GAA | c.859-24A>T (n.859-24A>T)
| dbSNP gnomAD v4 |
17 | g.80107778C= | CA2277812382 | GAA | c.859-22C= (n.859-22C=)
| |
17 | g.80107778C>T | CA8815065 | GAA | c.859-22C>T (n.859-22C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107779G>A | CA8815066 | GAA | c.859-21G>A (n.859-21G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107779G= | CA2277812383 | GAA | c.859-21G= (n.859-21G=)
| |
17 | g.80107780C= | CA2277812384 | GAA | c.859-20C= (n.859-20C=)
| |
17 | g.80107780C>T | CA656889655 | GAA | c.859-20C>T (n.859-20C>T)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80107781C>A | CA2640280079 | GAA | c.859-19C>A (n.859-19C>A)
| gnomAD v4 |
17 | g.80107781C= | CA2277812385 | GAA | c.859-19C= (n.859-19C=)
| |
17 | g.80107781C>T | CA628018344 | GAA | c.859-19C>T (n.859-19C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107782G>A | CA8815067 | GAA | c.859-18G>A (n.859-18G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107782G>C | CA2277812387 | GAA | c.859-18G>C (n.859-18G>C)
| ClinVar dbSNP |
17 | g.80107782G= | CA2277812386 | GAA | c.859-18G= (n.859-18G=)
| |
17 | g.80107784C>A | CA628018345 | GAA | c.859-16C>A (n.859-16C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107784C= | CA2277812388 | GAA | c.859-16C= (n.859-16C=)
| |
17 | g.80107786C= | CA2277812389 | GAA | c.859-14C= (n.859-14C=)
| |
17 | g.80107786C>G | CA8815068 | GAA | c.859-14C>G (n.859-14C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107786C>T | CA775511475 | GAA | c.859-14C>T (n.859-14C>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107787C>G | CA2810576431 | GAA | c.859-13C>G (n.859-13C>G)
| |
17 | g.80107789G>A | CA2640280090 | GAA | c.859-11G>A (n.859-11G>A)
| gnomAD v4 |
17 | g.80107789G>T | CA2640280091 | GAA | c.859-11G>T (n.859-11G>T)
| gnomAD v4 |
17 | g.80107790C>T | CA2573154942 | GAA | c.859-10C>T (n.859-10C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107791A= | CA2277812390 | GAA | c.859-9A= (n.859-9A=)
| |
17 | g.80107791A>G | CA294889895 | GAA | c.859-9A>G (n.859-9A>G)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107792T>C | CA2576413986 | GAA | c.859-8T>C (n.859-8T>C)
| gnomAD v4 |
17 | g.80107792T>G | CA2573154943 | GAA | c.859-8T>G (n.859-8T>G)
| ClinVar dbSNP |
17 | g.80107793G>A | CA8815069 | GAA | c.859-7G>A (n.859-7G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107793G= | CA2277812391 | GAA | c.859-7G= (n.859-7G=)
| |
17 | g.80107794T>G | CA2640280125 | GAA | c.859-6T>G (n.859-6T>G)
| gnomAD v4 |
17 | g.80107795C>T | CA2499225004 | GAA | c.859-5C>T (n.859-5C>T)
| ClinVar dbSNP |
17 | g.80107796C>A | CA8815070 | GAA | c.859-4C>A (n.859-4C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107796C= | CA2277812392 | GAA | c.859-4C= (n.859-4C=)
| |
17 | g.80107796C>G | CA628018346 | GAA | c.859-4C>G (n.859-4C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107796C>T | CA628018347 | GAA | c.859-4C>T (n.859-4C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107797C= | CA2277812393 | GAA | c.859-3C= (n.859-3C=)
| |
17 | g.80107797C>T | CA628018348 | GAA | c.859-3C>T (n.859-3C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107798A>C | CA401363785 | GAA | c.859-2A>C (n.859-2A>C)
| dbSNP |
17 | g.80107798A>G | CA401363787 | GAA | c.859-2A>G (n.859-2A>G)
| ClinVar dbSNP |
17 | g.80107798A>T | CA401363789 | GAA | c.859-2A>T (n.859-2A>T)
| |
17 | g.80107799G>A | CA401363791 | GAA | c.859-1G>A (n.859-1G>A)
| |
17 | g.80107799G>C | CA401363793 | GAA | c.859-1G>C (n.859-1G>C)
| ClinVar |
17 | g.80107799G>T | CA401363795 | GAA | c.859-1G>T (n.859-1G>T)
| |
17 | g.80107800C>A | CA401363797 | GAA | c.859C>A (p.Pro287Thr)
| |
17 | g.80107800C= | CA2277812394 | GAA | c.859C= (p.Pro287=)
| |
17 | g.80107800C>G | CA401363799 | GAA | c.859C>G (p.Pro287Ala)
| |
17 | g.80107800C>T | CA8815071 | GAA | c.859C>T (p.Pro287Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107801C>A | CA401363802 | GAA | c.860C>A (p.Pro287His)
| gnomAD v4 |
17 | g.80107801C= | CA2277812395 | GAA | c.860C= (p.Pro287=)
| |
17 | g.80107801C>G | CA401363804 | GAA | c.860C>G (p.Pro287Arg)
| |
17 | g.80107801C>T | CA401363807 | GAA | c.860C>T (p.Pro287Leu)
| ClinVar dbSNP gnomAD v2 |
17 | g.80107802C>A | CA502402725 | GAA | c.861C>A (p.Pro287=)
| gnomAD v4 |
17 | g.80107802C= | CA2277812396 | GAA | c.861C= (p.Pro287=)
| |
17 | g.80107802C>G | CA502402726 | GAA | c.861C>G (p.Pro287=)
| ClinVar dbSNP |
17 | g.80107802C>T | CA8815072 | GAA | c.861C>T (p.Pro287=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107803G>A | CA8815073 | GAA | c.862G>A (p.Gly288Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107803G>C | CA401363809 | GAA | c.862G>C (p.Gly288Arg)
| |
17 | g.80107803G= | CA2277812397 | GAA | c.862G= (p.Gly288=)
| |
17 | g.80107803G>T | CA401363811 | GAA | c.862G>T (p.Gly288Cys)
| |
17 | g.80107804G>A | CA8815074 | GAA | c.863G>A (p.Gly288Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107804G>C | CA401363815 | GAA | c.863G>C (p.Gly288Ala)
| |
17 | g.80107804G= | CA2277812398 | GAA | c.863G= (p.Gly288=)
| |
17 | g.80107804G>T | CA401363817 | GAA | c.863G>T (p.Gly288Val)
| gnomAD v4 |
17 | g.80107805T>A | CA502402727 | GAA | c.864T>A (p.Gly288=)
| |
17 | g.80107805T>C | CA502402728 | GAA | c.864T>C (p.Gly288=)
| |
17 | g.80107805T>G | CA502402729 | GAA | c.864T>G (p.Gly288=)
| |
17 | g.80107805dup | CA8815075 | GAA | c.864dup (p.Ala289CysfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107806G>A | CA401363820 | GAA | c.865G>A (p.Ala289Thr)
| |
17 | g.80107806G>C | CA401363822 | GAA | c.865G>C (p.Ala289Pro)
| |
17 | g.80107806G>T | CA401363825 | GAA | c.865G>T (p.Ala289Ser)
| gnomAD v4 |
17 | g.80107807C>A | CA401363826 | GAA | c.866C>A (p.Ala289Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107807C= | CA2277812399 | GAA | c.866C= (p.Ala289=)
| |
17 | g.80107807C>G | CA401363828 | GAA | c.866C>G (p.Ala289Gly)
| |
17 | g.80107807C>T | CA8815076 | GAA | c.866C>T (p.Ala289Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107808G>A | CA8815077 | GAA | c.867G>A (p.Ala289=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107808G>C | CA502402730 | GAA | c.867G>C (p.Ala289=)
| |
17 | g.80107808G= | CA2277812400 | GAA | c.867G= (p.Ala289=)
| |
17 | g.80107808G>T | CA502402731 | GAA | c.867G>T (p.Ala289=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107809A= | CA2277812401 | GAA | c.868A= (p.Asn290=)
| |
17 | g.80107809A>C | CA401363833 | GAA | c.868A>C (p.Asn290His)
| |
17 | g.80107809A>G | CA8815078 | GAA | c.868A>G (p.Asn290Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107809A>T | CA401363835 | GAA | c.868A>T (p.Asn290Tyr)
| |
17 | g.80107810A>C | CA401363837 | GAA | c.869A>C (p.Asn290Thr)
| |
17 | g.80107810A>G | CA401363839 | GAA | c.869A>G (p.Asn290Ser)
| |
17 | g.80107810A>T | CA401363841 | GAA | c.869A>T (p.Asn290Ile)
| |
17 | g.80107811C>A | CA401363843 | GAA | c.870C>A (p.Asn290Lys)
| |
17 | g.80107811C>G | CA401363845 | GAA | c.870C>G (p.Asn290Lys)
| |
17 | g.80107811C>T | CA502402732 | GAA | c.870C>T (p.Asn290=)
| ClinVar |
17 | g.80107812C>A | CA401363847 | GAA | c.871C>A (p.Leu291Ile)
| |
17 | g.80107812C= | CA2277812402 | GAA | c.871C= (p.Leu291=)
| |
17 | g.80107812C>G | CA401363849 | GAA | c.871C>G (p.Leu291Val)
| |
17 | g.80107812C>T | CA8815079 | GAA | c.871C>T (p.Leu291Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107814_80107815del | CA2695200352 | GAA | c.873_874del (p.Tyr292ArgfsTer?)
| ClinVar |
17 | g.80107813T>A | CA401363852 | GAA | c.872T>A (p.Leu291His)
| |
17 | g.80107813T>C | CA401363854 | GAA | c.872T>C (p.Leu291Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107813T>G | CA401363856 | GAA | c.872T>G (p.Leu291Arg)
| |
17 | g.80107814C>A | CA502402735 | GAA | c.873C>A (p.Leu291=)
| |
17 | g.80107814C= | CA2277812403 | GAA | c.873C= (p.Leu291=)
| |
17 | g.80107814C>G | CA502402734 | GAA | c.873C>G (p.Leu291=)
| dbSNP |
17 | g.80107814C>T | CA502402733 | GAA | c.873C>T (p.Leu291=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107815T>A | CA401363860 | GAA | c.874T>A (p.Tyr292Asn)
| |
17 | g.80107815T>C | CA401363862 | GAA | c.874T>C (p.Tyr292His)
| ClinVar gnomAD v4 |
17 | g.80107815T>G | CA401363858 | GAA | c.874T>G (p.Tyr292Asp)
| |
17 | g.80107816A= | CA2277812404 | GAA | c.875A= (p.Tyr292=)
| |
17 | g.80107816A>C | CA401363867 | GAA | c.875A>C (p.Tyr292Ser)
| |
17 | g.80107816A>G | CA16041886 | GAA | c.875A>G (p.Tyr292Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107816A>T | CA401363865 | GAA | c.875A>T (p.Tyr292Phe)
| |
17 | g.80107817C>A | CA401363869 | GAA | c.876C>A (p.Tyr292Ter)
| |
17 | g.80107817C= | CA2277812405 | GAA | c.876C= (p.Tyr292=)
| |
17 | g.80107817C>G | CA401363871 | GAA | c.876C>G (p.Tyr292Ter)
| ClinVar dbSNP |
17 | g.80107817C>T | CA8815080 | GAA | c.876C>T (p.Tyr292=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107818G>A | CA116622 | GAA | c.877G>A (p.Gly293Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107818G>C | CA401363876 | GAA | c.877G>C (p.Gly293Arg)
| ClinVar dbSNP |
17 | g.80107818G= | CA2277812406 | GAA | c.877G= (p.Gly293=)
| |
17 | g.80107818G>T | CA401363875 | GAA | c.877G>T (p.Gly293Trp)
| gnomAD v4 |
17 | g.80107819G>A | CA401363879 | GAA | c.878G>A (p.Gly293Glu)
| |
17 | g.80107819G>C | CA401363881 | GAA | c.878G>C (p.Gly293Ala)
| |
17 | g.80107819G= | CA2277812407 | GAA | c.878G= (p.Gly293=)
| |
17 | g.80107819G>T | CA401363883 | GAA | c.878G>T (p.Gly293Val)
| dbSNP |
17 | g.80107820G>A | CA502402736 | GAA | c.879G>A (p.Gly293=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107820G>C | CA502402737 | GAA | c.879G>C (p.Gly293=)
| |
17 | g.80107820G>T | CA502402738 | GAA | c.879G>T (p.Gly293=)
| |
17 | g.80107821T>A | CA401363885 | GAA | c.880T>A (p.Ser294Thr)
| |
17 | g.80107821T>C | CA401363887 | GAA | c.880T>C (p.Ser294Pro)
| |
17 | g.80107821T>G | CA401363889 | GAA | c.880T>G (p.Ser294Ala)
| |
17 | g.80107822C>A | CA401363891 | GAA | c.881C>A (p.Ser294Tyr)
| |
17 | g.80107822C>G | CA401363894 | GAA | c.881C>G (p.Ser294Cys)
| |
17 | g.80107822C>T | CA401363892 | GAA | c.881C>T (p.Ser294Phe)
| |
17 | g.80107823T>A | CA502402739 | GAA | c.882T>A (p.Ser294=)
| |
17 | g.80107823T>C | CA502402740 | GAA | c.882T>C (p.Ser294=)
| |
17 | g.80107823T>G | CA502402741 | GAA | c.882T>G (p.Ser294=)
| |
17 | g.80107824C>A | CA8815081 | GAA | c.883C>A (p.His295Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107824C= | CA2277812408 | GAA | c.883C= (p.His295=)
| |
17 | g.80107824C>G | CA401363897 | GAA | c.883C>G (p.His295Asp)
| |
17 | g.80107824C>T | CA401363899 | GAA | c.883C>T (p.His295Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107825A>C | CA401363901 | GAA | c.884A>C (p.His295Pro)
| |
17 | g.80107825A>G | CA401363903 | GAA | c.884A>G (p.His295Arg)
| |
17 | g.80107825A>T | CA401363905 | GAA | c.884A>T (p.His295Leu)
| |
17 | g.80107826C>A | CA401363907 | GAA | c.885C>A (p.His295Gln)
| |
17 | g.80107826C>G | CA401363908 | GAA | c.885C>G (p.His295Gln)
| |
17 | g.80107826C>T | CA502402742 | GAA | c.885C>T (p.His295=)
| |
17 | g.80107827C>A | CA401363910 | GAA | c.886C>A (p.Pro296Thr)
| |
17 | g.80107827C>G | CA401363912 | GAA | c.886C>G (p.Pro296Ala)
| gnomAD v4 |
17 | g.80107827C>T | CA401363914 | GAA | c.886C>T (p.Pro296Ser)
| |
17 | g.80107828C>A | CA401363920 | GAA | c.887C>A (p.Pro296His)
| |
17 | g.80107828C>G | CA401363918 | GAA | c.887C>G (p.Pro296Arg)
| |
17 | g.80107828C>T | CA401363916 | GAA | c.887C>T (p.Pro296Leu)
| |
17 | g.80107829T>A | CA502402743 | GAA | c.888T>A (p.Pro296=)
| gnomAD v4 |
17 | g.80107829T>C | CA502402744 | GAA | c.888T>C (p.Pro296=)
| |
17 | g.80107829T>G | CA502402745 | GAA | c.888T>G (p.Pro296=)
| |
17 | g.80107830T>A | CA401363922 | GAA | c.889T>A (p.Phe297Ile)
| |
17 | g.80107830T>C | CA401363924 | GAA | c.889T>C (p.Phe297Leu)
| |
17 | g.80107830T>G | CA401363926 | GAA | c.889T>G (p.Phe297Val)
| |
17 | g.80107830_80107831insG | CA2697555239 | GAA | c.889_890insG (p.Phe297CysfsTer?)
| ClinVar |
17 | g.80107831T>A | CA401363928 | GAA | c.890T>A (p.Phe297Tyr)
| |
17 | g.80107831T>C | CA401363929 | GAA | c.890T>C (p.Phe297Ser)
| dbSNP |
17 | g.80107831T>G | CA401363931 | GAA | c.890T>G (p.Phe297Cys)
| |
17 | g.80107831T= | CA2277812409 | GAA | c.890T= (p.Phe297=)
| |
17 | g.80107832C>A | CA401363933 | GAA | c.891C>A (p.Phe297Leu)
| |
17 | g.80107832C>G | CA401363935 | GAA | c.891C>G (p.Phe297Leu)
| |
17 | g.80107832C>T | CA502402746 | GAA | c.891C>T (p.Phe297=)
| |
17 | g.80107833T>A | CA401363937 | GAA | c.892T>A (p.Tyr298Asn)
| |
17 | g.80107833T>C | CA401363939 | GAA | c.892T>C (p.Tyr298His)
| |
17 | g.80107833T>G | CA401363940 | GAA | c.892T>G (p.Tyr298Asp)
| |