Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89631466_89631478del | CA2630273447 | KIF7 | c.3234+20_3234+32del (n.3234+20_3234+32del) c.3111+20_3111+32del (n.3111+20_3111+32del) n.785+20_785+32del c.3231+20_3231+32del (n.3231+20_3231+32del) | gnomAD v4 |
15 | g.89631474del | CA2630273462 | KIF7 | c.3234+21del (n.3234+21del) c.3111+21del (n.3111+21del) n.785+21del c.3231+21del (n.3231+21del) | gnomAD v4 |
15 | g.89631474A= | CA2194759338 | KIF7 | c.3234+21T= (n.3234+21T=) c.3111+21T= (n.3111+21T=) n.785+21T= c.3231+21T= (n.3231+21T=) | |
15 | g.89631474A>C | CA7727828 | KIF7 | c.3234+21T>G (n.3234+21T>G) c.3111+21T>G (n.3111+21T>G) n.785+21T>G c.3231+21T>G (n.3231+21T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631474A>G | CA7727827 | KIF7 | c.3234+21T>C (n.3234+21T>C) c.3111+21T>C (n.3111+21T>C) n.785+21T>C c.3231+21T>C (n.3231+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631475G>A | CA2630273464 | KIF7 | c.3234+20C>T (n.3234+20C>T) c.3111+20C>T (n.3111+20C>T) n.785+20C>T c.3231+20C>T (n.3231+20C>T) | gnomAD v4 |
15 | g.89631475G>T | CA2630273465 | KIF7 | c.3234+20C>A (n.3234+20C>A) c.3111+20C>A (n.3111+20C>A) n.785+20C>A c.3231+20C>A (n.3231+20C>A) | gnomAD v4 |
15 | g.89631476C>A | CA2630273466 | KIF7 | c.3234+19G>T (n.3234+19G>T) c.3111+19G>T (n.3111+19G>T) n.785+19G>T c.3231+19G>T (n.3231+19G>T) | gnomAD v4 |
15 | g.89631476C>T | CA2630273467 | KIF7 | c.3234+19G>A (n.3234+19G>A) c.3111+19G>A (n.3111+19G>A) n.785+19G>A c.3231+19G>A (n.3231+19G>A) | gnomAD v4 |
15 | g.89631477C>A | CA2630273468 | KIF7 | c.3234+18G>T (n.3234+18G>T) c.3111+18G>T (n.3111+18G>T) n.785+18G>T c.3231+18G>T (n.3231+18G>T) | gnomAD v4 |
15 | g.89631477C= | CA2194759340 | KIF7 | c.3234+18G= (n.3234+18G=) c.3111+18G= (n.3111+18G=) n.785+18G= c.3231+18G= (n.3231+18G=) | |
15 | g.89631477C>T | CA2194759342 | KIF7 | c.3234+18G>A (n.3234+18G>A) c.3111+18G>A (n.3111+18G>A) n.785+18G>A c.3231+18G>A (n.3231+18G>A) | dbSNP gnomAD v4 |
15 | g.89631478A= | CA2194759343 | KIF7 | c.3234+17T= (n.3234+17T=) c.3111+17T= (n.3111+17T=) n.785+17T= c.3231+17T= (n.3231+17T=) | |
15 | g.89631478A>G | CA619522409 | KIF7 | c.3234+17T>C (n.3234+17T>C) c.3111+17T>C (n.3111+17T>C) n.785+17T>C c.3231+17T>C (n.3231+17T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631478A>T | CA2630273469 | KIF7 | c.3234+17T>A (n.3234+17T>A) c.3111+17T>A (n.3111+17T>A) n.785+17T>A c.3231+17T>A (n.3231+17T>A) | gnomAD v4 |
15 | g.89631479T>C | CA972615941 | KIF7 | c.3234+16A>G (n.3234+16A>G) c.3111+16A>G (n.3111+16A>G) n.785+16A>G c.3231+16A>G (n.3231+16A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631479T= | CA2194759346 | KIF7 | c.3234+16A= (n.3234+16A=) c.3111+16A= (n.3111+16A=) n.785+16A= c.3231+16A= (n.3231+16A=) | |
15 | g.89631479dup | CA2630273470 | KIF7 | c.3234+16dup (n.3234+16dup) c.3111+16dup (n.3111+16dup) n.785+16dup c.3231+16dup (n.3231+16dup) | gnomAD v4 |
15 | g.89631480G>A | CA274565558 | KIF7 | c.3234+15C>T (n.3234+15C>T) c.3111+15C>T (n.3111+15C>T) n.785+15C>T c.3231+15C>T (n.3231+15C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631480G= | CA2194759348 | KIF7 | c.3234+15C= (n.3234+15C=) c.3111+15C= (n.3111+15C=) n.785+15C= c.3231+15C= (n.3231+15C=) | |
15 | g.89631480G>T | CA2630273473 | KIF7 | c.3234+15C>A (n.3234+15C>A) c.3111+15C>A (n.3111+15C>A) n.785+15C>A c.3231+15C>A (n.3231+15C>A) | gnomAD v4 |
15 | g.89631481G>A | CA2630273475 | KIF7 | c.3234+14C>T (n.3234+14C>T) c.3111+14C>T (n.3111+14C>T) n.785+14C>T c.3231+14C>T (n.3231+14C>T) | gnomAD v4 |
15 | g.89631481G= | CA2194759350 | KIF7 | c.3234+14C= (n.3234+14C=) c.3111+14C= (n.3111+14C=) n.785+14C= c.3231+14C= (n.3231+14C=) | |
15 | g.89631481G>T | CA2194759352 | KIF7 | c.3234+14C>A (n.3234+14C>A) c.3111+14C>A (n.3111+14C>A) n.785+14C>A c.3231+14C>A (n.3231+14C>A) | dbSNP gnomAD v4 |
15 | g.89631482G>A | CA2630273476 | KIF7 | c.3234+13C>T (n.3234+13C>T) c.3111+13C>T (n.3111+13C>T) n.785+13C>T c.3231+13C>T (n.3231+13C>T) | gnomAD v4 |
15 | g.89631482G>T | CA2630273477 | KIF7 | c.3234+13C>A (n.3234+13C>A) c.3111+13C>A (n.3111+13C>A) n.785+13C>A c.3231+13C>A (n.3231+13C>A) | gnomAD v4 |
15 | g.89631483G>A | CA274565560 | KIF7 | c.3234+12C>T (n.3234+12C>T) c.3111+12C>T (n.3111+12C>T) n.785+12C>T c.3231+12C>T (n.3231+12C>T) | dbSNP gnomAD v4 |
15 | g.89631483G= | CA2194759356 | KIF7 | c.3234+12C= (n.3234+12C=) c.3111+12C= (n.3111+12C=) n.785+12C= c.3231+12C= (n.3231+12C=) | |
15 | g.89631483G>T | CA2630273478 | KIF7 | c.3234+12C>A (n.3234+12C>A) c.3111+12C>A (n.3111+12C>A) n.785+12C>A c.3231+12C>A (n.3231+12C>A) | gnomAD v4 |
15 | g.89631484C>A | CA2630273479 | KIF7 | c.3234+11G>T (n.3234+11G>T) c.3111+11G>T (n.3111+11G>T) n.785+11G>T c.3231+11G>T (n.3231+11G>T) | gnomAD v4 |
15 | g.89631484C= | CA2194759358 | KIF7 | c.3234+11G= (n.3234+11G=) c.3111+11G= (n.3111+11G=) n.785+11G= c.3231+11G= (n.3231+11G=) | |
15 | g.89631484C>T | CA716956969 | KIF7 | c.3234+11G>A (n.3234+11G>A) c.3111+11G>A (n.3111+11G>A) n.785+11G>A c.3231+11G>A (n.3231+11G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631485C>A | CA2630273480 | KIF7 | c.3234+10G>T (n.3234+10G>T) c.3111+10G>T (n.3111+10G>T) n.785+10G>T c.3231+10G>T (n.3231+10G>T) | gnomAD v4 |
15 | g.89631485C= | CA2194759360 | KIF7 | c.3234+10G= (n.3234+10G=) c.3111+10G= (n.3111+10G=) n.785+10G= c.3231+10G= (n.3231+10G=) | |
15 | g.89631485C>T | CA619522410 | KIF7 | c.3234+10G>A (n.3234+10G>A) c.3111+10G>A (n.3111+10G>A) n.785+10G>A c.3231+10G>A (n.3231+10G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631486G>A | CA7727830 | KIF7 | c.3234+9C>T (n.3234+9C>T) c.3111+9C>T (n.3111+9C>T) n.785+9C>T c.3231+9C>T (n.3231+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631486G>C | CA2630273482 | KIF7 | c.3234+9C>G (n.3234+9C>G) c.3111+9C>G (n.3111+9C>G) n.785+9C>G c.3231+9C>G (n.3231+9C>G) | gnomAD v4 |
15 | g.89631486G= | CA2194759363 | KIF7 | c.3234+9C= (n.3234+9C=) c.3111+9C= (n.3111+9C=) n.785+9C= c.3231+9C= (n.3231+9C=) | |
15 | g.89631486G>T | CA7727829 | KIF7 | c.3234+9C>A (n.3234+9C>A) c.3111+9C>A (n.3111+9C>A) n.785+9C>A c.3231+9C>A (n.3231+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631487C>A | CA2630273483 | KIF7 | c.3234+8G>T (n.3234+8G>T) c.3111+8G>T (n.3111+8G>T) n.785+8G>T c.3231+8G>T (n.3231+8G>T) | gnomAD v4 |
15 | g.89631487C>T | CA2630273484 | KIF7 | c.3234+8G>A (n.3234+8G>A) c.3111+8G>A (n.3111+8G>A) n.785+8G>A c.3231+8G>A (n.3231+8G>A) | gnomAD v4 |
15 | g.89631488A>G | CA2575829929 | KIF7 | c.3234+7T>C (n.3234+7T>C) c.3111+7T>C (n.3111+7T>C) n.785+7T>C c.3231+7T>C (n.3231+7T>C) | gnomAD v4 |
15 | g.89631488A>T | CA2630273485 | KIF7 | c.3234+7T>A (n.3234+7T>A) c.3111+7T>A (n.3111+7T>A) n.785+7T>A c.3231+7T>A (n.3231+7T>A) | gnomAD v4 |
15 | g.89631489G>A | CA2194759372 | KIF7 | c.3234+6C>T (n.3234+6C>T) c.3111+6C>T (n.3111+6C>T) n.785+6C>T c.3231+6C>T (n.3231+6C>T) | dbSNP gnomAD v4 |
15 | g.89631489G= | CA2194759370 | KIF7 | c.3234+6C= (n.3234+6C=) c.3111+6C= (n.3111+6C=) n.785+6C= c.3231+6C= (n.3231+6C=) | |
15 | g.89631489G>T | CA274565571 | KIF7 | c.3234+6C>A (n.3234+6C>A) c.3111+6C>A (n.3111+6C>A) n.785+6C>A c.3231+6C>A (n.3231+6C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631490G>A | CA972615947 | KIF7 | c.3234+5C>T (n.3234+5C>T) c.3111+5C>T (n.3111+5C>T) n.785+5C>T c.3231+5C>T (n.3231+5C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631490G>C | CA2630273489 | KIF7 | c.3234+5C>G (n.3234+5C>G) c.3111+5C>G (n.3111+5C>G) n.785+5C>G c.3231+5C>G (n.3231+5C>G) | gnomAD v4 |
15 | g.89631490G= | CA2194759374 | KIF7 | c.3234+5C= (n.3234+5C=) c.3111+5C= (n.3111+5C=) n.785+5C= c.3231+5C= (n.3231+5C=) | |
15 | g.89631490G>T | CA2630273488 | KIF7 | c.3234+5C>A (n.3234+5C>A) c.3111+5C>A (n.3111+5C>A) n.785+5C>A c.3231+5C>A (n.3231+5C>A) | gnomAD v4 |
15 | g.89631491G>A | CA2630273490 | KIF7 | c.3234+4C>T (n.3234+4C>T) c.3111+4C>T (n.3111+4C>T) n.785+4C>T c.3231+4C>T (n.3231+4C>T) | gnomAD v4 |
15 | g.89631491G>T | CA2630273491 | KIF7 | c.3234+4C>A (n.3234+4C>A) c.3111+4C>A (n.3111+4C>A) n.785+4C>A c.3231+4C>A (n.3231+4C>A) | gnomAD v4 |
15 | g.89631493A= | CA2194759377 | KIF7 | c.3234+2T= (n.3234+2T=) c.3111+2T= (n.3111+2T=) n.785+2T= c.3231+2T= (n.3231+2T=) | |
15 | g.89631493A>C | CA393756397 | KIF7 | c.3234+2T>G (n.3234+2T>G) c.3111+2T>G (n.3111+2T>G) n.785+2T>G c.3231+2T>G (n.3231+2T>G) | dbSNP |
15 | g.89631493A>G | CA393756398 | KIF7 | c.3234+2T>C (n.3234+2T>C) c.3111+2T>C (n.3111+2T>C) n.785+2T>C c.3231+2T>C (n.3231+2T>C) | |
15 | g.89631493A>T | CA393756400 | KIF7 | c.3234+2T>A (n.3234+2T>A) c.3111+2T>A (n.3111+2T>A) n.785+2T>A c.3231+2T>A (n.3231+2T>A) | |
15 | g.89631494C>A | CA393756404 | KIF7 | c.3234+1G>T (n.3234+1G>T) c.3111+1G>T (n.3111+1G>T) n.785+1G>T c.3231+1G>T (n.3231+1G>T) | |
15 | g.89631494C>G | CA393756403 | KIF7 | c.3234+1G>C (n.3234+1G>C) c.3111+1G>C (n.3111+1G>C) n.785+1G>C c.3231+1G>C (n.3231+1G>C) | gnomAD v4 |
15 | g.89631494C>T | CA393756402 | KIF7 | c.3234+1G>A (n.3234+1G>A) c.3111+1G>A (n.3111+1G>A) n.785+1G>A c.3231+1G>A (n.3231+1G>A) | gnomAD v4 |
15 | g.89631495C>A | CA393756406 | KIF7 | c.3234G>T (p.Glu1078Asp) c.3111G>T (p.Glu1037Asp) n.785G>T c.3231G>T (p.Glu1077Asp) | gnomAD v4 |
15 | g.89631495C>G | CA393756407 | KIF7 | c.3234G>C (p.Glu1078Asp) c.3111G>C (p.Glu1037Asp) n.785G>C c.3231G>C (p.Glu1077Asp) | |
15 | g.89631495C>T | CA492101023 | KIF7 | c.3234G>A (p.Glu1078=) c.3111G>A (p.Glu1037=) n.785G>A c.3231G>A (p.Glu1077=) | |
15 | g.89631496T>A | CA393756409 | KIF7 | c.3233A>T (p.Glu1078Val) c.3110A>T (p.Glu1037Val) n.784A>T c.3230A>T (p.Glu1077Val) | |
15 | g.89631496T>C | CA393756410 | KIF7 | c.3233A>G (p.Glu1078Gly) c.3110A>G (p.Glu1037Gly) n.784A>G c.3230A>G (p.Glu1077Gly) | gnomAD v4 |
15 | g.89631496T>G | CA393756412 | KIF7 | c.3233A>C (p.Glu1078Ala) c.3110A>C (p.Glu1037Ala) n.784A>C c.3230A>C (p.Glu1077Ala) | |
15 | g.89631497C>A | CA274566269 | KIF7 | c.3232G>T (p.Glu1078Ter) c.3109G>T (p.Glu1037Ter) n.783G>T c.3229G>T (p.Glu1077Ter) | dbSNP gnomAD v4 |
15 | g.89631497C= | CA2194759380 | KIF7 | c.3232G= (p.Glu1078=) c.3109G= (p.Glu1037=) n.783G= c.3229G= (p.Glu1077=) | |
15 | g.89631497C>G | CA393756734 | KIF7 | c.3232G>C (p.Glu1078Gln) c.3109G>C (p.Glu1037Gln) n.783G>C c.3229G>C (p.Glu1077Gln) | gnomAD v4 |
15 | g.89631497C>T | CA7727831 | KIF7 | c.3232G>A (p.Glu1078Lys) c.3109G>A (p.Glu1037Lys) n.783G>A c.3229G>A (p.Glu1077Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.89631498G>A | CA7727833 | KIF7 | c.3231C>T (p.Pro1077=) c.3108C>T (p.Pro1036=) n.782C>T c.3228C>T (p.Pro1076=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631498G>C | CA492292412 | KIF7 | c.3231C>G (p.Pro1077=) c.3108C>G (p.Pro1036=) n.782C>G c.3228C>G (p.Pro1076=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631498G= | CA2194759388 | KIF7 | c.3231C= (p.Pro1077=) c.3108C= (p.Pro1036=) n.782C= c.3228C= (p.Pro1076=) | |
15 | g.89631498G>T | CA7727832 | KIF7 | c.3231C>A (p.Pro1077=) c.3108C>A (p.Pro1036=) n.782C>A c.3228C>A (p.Pro1076=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631499G>A | CA7727834 | KIF7 | c.3230C>T (p.Pro1077Leu) c.3107C>T (p.Pro1036Leu) n.781C>T c.3227C>T (p.Pro1076Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631499G>C | CA393756741 | KIF7 | c.3230C>G (p.Pro1077Arg) c.3107C>G (p.Pro1036Arg) n.781C>G c.3227C>G (p.Pro1076Arg) | |
15 | g.89631499G= | CA2194759394 | KIF7 | c.3230C= (p.Pro1077=) c.3107C= (p.Pro1036=) n.781C= c.3227C= (p.Pro1076=) | |
15 | g.89631499G>T | CA393756743 | KIF7 | c.3230C>A (p.Pro1077His) c.3107C>A (p.Pro1036His) n.781C>A c.3227C>A (p.Pro1076His) | gnomAD v4 |
15 | g.89631500G>A | CA393756748 | KIF7 | c.3229C>T (p.Pro1077Ser) c.3106C>T (p.Pro1036Ser) n.780C>T c.3226C>T (p.Pro1076Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631500G>C | CA393756749 | KIF7 | c.3229C>G (p.Pro1077Ala) c.3106C>G (p.Pro1036Ala) n.780C>G c.3226C>G (p.Pro1076Ala) | gnomAD v4 |
15 | g.89631500G= | CA2194759396 | KIF7 | c.3229C= (p.Pro1077=) c.3106C= (p.Pro1036=) n.780C= c.3226C= (p.Pro1076=) | |
15 | g.89631500G>T | CA393756746 | KIF7 | c.3229C>A (p.Pro1077Thr) c.3106C>A (p.Pro1036Thr) n.780C>A c.3226C>A (p.Pro1076Thr) | gnomAD v4 |
15 | g.89631501G>A | CA492292413 | KIF7 | c.3228C>T (p.Ser1076=) c.3105C>T (p.Ser1035=) n.779C>T c.3225C>T (p.Ser1075=) | gnomAD v4 |
15 | g.89631501G>C | CA492292414 | KIF7 | c.3228C>G (p.Ser1076=) c.3105C>G (p.Ser1035=) n.779C>G c.3225C>G (p.Ser1075=) | |
15 | g.89631501G>T | CA492292415 | KIF7 | c.3228C>A (p.Ser1076=) c.3105C>A (p.Ser1035=) n.779C>A c.3225C>A (p.Ser1075=) | gnomAD v4 |
15 | g.89631502G>A | CA393756752 | KIF7 | c.3227C>T (p.Ser1076Phe) c.3104C>T (p.Ser1035Phe) n.778C>T c.3224C>T (p.Ser1075Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631502G>C | CA393756751 | KIF7 | c.3227C>G (p.Ser1076Cys) c.3104C>G (p.Ser1035Cys) n.778C>G c.3224C>G (p.Ser1075Cys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631502G= | CA2194759400 | KIF7 | c.3227C= (p.Ser1076=) c.3104C= (p.Ser1035=) n.778C= c.3224C= (p.Ser1075=) | |
15 | g.89631502G>T | CA393756753 | KIF7 | c.3227C>A (p.Ser1076Tyr) c.3104C>A (p.Ser1035Tyr) n.778C>A c.3224C>A (p.Ser1075Tyr) | gnomAD v4 |
15 | g.89631503A>C | CA393756756 | KIF7 | c.3226T>G (p.Ser1076Ala) c.3103T>G (p.Ser1035Ala) n.777T>G c.3223T>G (p.Ser1075Ala) | |
15 | g.89631503A>G | CA393756759 | KIF7 | c.3226T>C (p.Ser1076Pro) c.3103T>C (p.Ser1035Pro) n.777T>C c.3223T>C (p.Ser1075Pro) | gnomAD v4 |
15 | g.89631503A>T | CA393756757 | KIF7 | c.3226T>A (p.Ser1076Thr) c.3103T>A (p.Ser1035Thr) n.777T>A c.3223T>A (p.Ser1075Thr) | |
15 | g.89631504C>A | CA492292416 | KIF7 | c.3225G>T (p.Leu1075=) c.3102G>T (p.Leu1034=) n.776G>T c.3222G>T (p.Leu1074=) | gnomAD v4 |
15 | g.89631504C= | CA2194759404 | KIF7 | c.3225G= (p.Leu1075=) c.3102G= (p.Leu1034=) n.776G= c.3222G= (p.Leu1074=) | |
15 | g.89631504C>G | CA492292417 | KIF7 | c.3225G>C (p.Leu1075=) c.3102G>C (p.Leu1034=) n.776G>C c.3222G>C (p.Leu1074=) | dbSNP |
15 | g.89631504C>T | CA492292418 | KIF7 | c.3225G>A (p.Leu1075=) c.3102G>A (p.Leu1034=) n.776G>A c.3222G>A (p.Leu1074=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631505A>C | CA393756761 | KIF7 | c.3224T>G (p.Leu1075Arg) c.3101T>G (p.Leu1034Arg) n.775T>G c.3221T>G (p.Leu1074Arg) | |
15 | g.89631505A>G | CA393756762 | KIF7 | c.3224T>C (p.Leu1075Pro) c.3101T>C (p.Leu1034Pro) n.775T>C c.3221T>C (p.Leu1074Pro) | gnomAD v4 |
15 | g.89631505A>T | CA393756763 | KIF7 | c.3224T>A (p.Leu1075Gln) c.3101T>A (p.Leu1034Gln) n.775T>A c.3221T>A (p.Leu1074Gln) | gnomAD v4 |
15 | g.89631506G>A | CA020348 | KIF7 | c.3223C>T (p.Leu1075=) c.3100C>T (p.Leu1034=) n.774C>T c.3220C>T (p.Leu1074=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631506G>C | CA393756767 | KIF7 | c.3223C>G (p.Leu1075Val) c.3100C>G (p.Leu1034Val) n.774C>G c.3220C>G (p.Leu1074Val) | |
15 | g.89631506G= | CA2194759408 | KIF7 | c.3223C= (p.Leu1075=) c.3100C= (p.Leu1034=) n.774C= c.3220C= (p.Leu1074=) | |
15 | g.89631506G>T | CA393756768 | KIF7 | c.3223C>A (p.Leu1075Met) c.3100C>A (p.Leu1034Met) n.774C>A c.3220C>A (p.Leu1074Met) | gnomAD v4 |
15 | g.89631507C>A | CA492292421 | KIF7 | c.3222G>T (p.Leu1074=) c.3099G>T (p.Leu1033=) n.773G>T c.3219G>T (p.Leu1073=) | gnomAD v4 |
15 | g.89631507C= | CA2194759413 | KIF7 | c.3222G= (p.Leu1074=) c.3099G= (p.Leu1033=) n.773G= c.3219G= (p.Leu1073=) | |
15 | g.89631507C>G | CA7727835 | KIF7 | c.3222G>C (p.Leu1074=) c.3099G>C (p.Leu1033=) n.773G>C c.3219G>C (p.Leu1073=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631507C>T | CA492292420 | KIF7 | c.3222G>A (p.Leu1074=) c.3099G>A (p.Leu1033=) n.773G>A c.3219G>A (p.Leu1073=) | gnomAD v4 |
15 | g.89631508A= | CA2194759417 | KIF7 | c.3221T= (p.Leu1074=) c.3098T= (p.Leu1033=) n.772T= c.3218T= (p.Leu1073=) | |
15 | g.89631508A>C | CA393756771 | KIF7 | c.3221T>G (p.Leu1074Arg) c.3098T>G (p.Leu1033Arg) n.772T>G c.3218T>G (p.Leu1073Arg) | |
15 | g.89631508A>G | CA393756776 | KIF7 | c.3221T>C (p.Leu1074Pro) c.3098T>C (p.Leu1033Pro) n.772T>C c.3218T>C (p.Leu1073Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631508A>T | CA393756774 | KIF7 | c.3221T>A (p.Leu1074Gln) c.3098T>A (p.Leu1033Gln) n.772T>A c.3218T>A (p.Leu1073Gln) | |
15 | g.89631509G>A | CA492292422 | KIF7 | c.3220C>T (p.Leu1074=) c.3097C>T (p.Leu1033=) n.771C>T c.3217C>T (p.Leu1073=) | |
15 | g.89631509G>C | CA393756778 | KIF7 | c.3220C>G (p.Leu1074Val) c.3097C>G (p.Leu1033Val) n.771C>G c.3217C>G (p.Leu1073Val) | gnomAD v4 |
15 | g.89631509G>T | CA393756780 | KIF7 | c.3220C>A (p.Leu1074Met) c.3097C>A (p.Leu1033Met) n.771C>A c.3217C>A (p.Leu1073Met) | gnomAD v4 |
15 | g.89631510A= | CA2194759423 | KIF7 | c.3219T= (p.Ser1073=) c.3096T= (p.Ser1032=) n.770T= c.3216T= (p.Ser1072=) | |
15 | g.89631510A>C | CA393756781 | KIF7 | c.3219T>G (p.Ser1073Arg) c.3096T>G (p.Ser1032Arg) n.770T>G c.3216T>G (p.Ser1072Arg) | dbSNP |
15 | g.89631510A>G | CA492292423 | KIF7 | c.3219T>C (p.Ser1073=) c.3096T>C (p.Ser1032=) n.770T>C c.3216T>C (p.Ser1072=) | |
15 | g.89631510A>T | CA7727836 | KIF7 | c.3219T>A (p.Ser1073Arg) c.3096T>A (p.Ser1032Arg) n.770T>A c.3216T>A (p.Ser1072Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631511C>A | CA393756789 | KIF7 | c.3218G>T (p.Ser1073Ile) c.3095G>T (p.Ser1032Ile) n.769G>T c.3215G>T (p.Ser1072Ile) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631511C= | CA2194759426 | KIF7 | c.3218G= (p.Ser1073=) c.3095G= (p.Ser1032=) n.769G= c.3215G= (p.Ser1072=) | |
15 | g.89631511C>G | CA393756784 | KIF7 | c.3218G>C (p.Ser1073Thr) c.3095G>C (p.Ser1032Thr) n.769G>C c.3215G>C (p.Ser1072Thr) | |
15 | g.89631511C>T | CA393756787 | KIF7 | c.3218G>A (p.Ser1073Asn) c.3095G>A (p.Ser1032Asn) n.769G>A c.3215G>A (p.Ser1072Asn) | |
15 | g.89631512T>A | CA393756791 | KIF7 | c.3217A>T (p.Ser1073Cys) c.3094A>T (p.Ser1032Cys) n.768A>T c.3214A>T (p.Ser1072Cys) | gnomAD v4 |
15 | g.89631512T>C | CA393756793 | KIF7 | c.3217A>G (p.Ser1073Gly) c.3094A>G (p.Ser1032Gly) n.768A>G c.3214A>G (p.Ser1072Gly) | |
15 | g.89631512T>G | CA393756795 | KIF7 | c.3217A>C (p.Ser1073Arg) c.3094A>C (p.Ser1032Arg) n.768A>C c.3214A>C (p.Ser1072Arg) | |
15 | g.89631513C>A | CA492292424 | KIF7 | c.3216G>T (p.Gly1072=) c.3093G>T (p.Gly1031=) n.767G>T c.3213G>T (p.Gly1071=) | gnomAD v4 |
15 | g.89631513C= | CA2194759430 | KIF7 | c.3216G= (p.Gly1072=) c.3093G= (p.Gly1031=) n.767G= c.3213G= (p.Gly1071=) | |
15 | g.89631513C>G | CA7727837 | KIF7 | c.3216G>C (p.Gly1072=) c.3093G>C (p.Gly1031=) n.767G>C c.3213G>C (p.Gly1071=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631513C>T | CA274566276 | KIF7 | c.3216G>A (p.Gly1072=) c.3093G>A (p.Gly1031=) n.767G>A c.3213G>A (p.Gly1071=) | dbSNP gnomAD v4 |
15 | g.89631516del | CA2597978680 | KIF7 | c.3216del (p.Ser1073ValfsTer?) c.3093del (p.Ser1032ValfsTer?) n.767del c.3213del (p.Ser1072ValfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631514C>A | CA393756798 | KIF7 | c.3215G>T (p.Gly1072Val) c.3092G>T (p.Gly1031Val) n.766G>T c.3212G>T (p.Gly1071Val) | gnomAD v4 |
15 | g.89631514C>G | CA393756799 | KIF7 | c.3215G>C (p.Gly1072Ala) c.3092G>C (p.Gly1031Ala) n.766G>C c.3212G>C (p.Gly1071Ala) | |
15 | g.89631514C>T | CA393756800 | KIF7 | c.3215G>A (p.Gly1072Glu) c.3092G>A (p.Gly1031Glu) n.766G>A c.3212G>A (p.Gly1071Glu) | gnomAD v4 |
15 | g.89631515C>A | CA393756803 | KIF7 | c.3214G>T (p.Gly1072Trp) c.3091G>T (p.Gly1031Trp) n.765G>T c.3211G>T (p.Gly1071Trp) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631515C= | CA2194759435 | KIF7 | c.3214G= (p.Gly1072=) c.3091G= (p.Gly1031=) n.765G= c.3211G= (p.Gly1071=) | |
15 | g.89631515C>G | CA393756805 | KIF7 | c.3214G>C (p.Gly1072Arg) c.3091G>C (p.Gly1031Arg) n.765G>C c.3211G>C (p.Gly1071Arg) | |
15 | g.89631515C>T | CA393756807 | KIF7 | c.3214G>A (p.Gly1072Arg) c.3091G>A (p.Gly1031Arg) n.765G>A c.3211G>A (p.Gly1071Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631516C>A | CA393756809 | KIF7 | c.3213G>T (p.Gln1071His) c.3090G>T (p.Gln1030His) n.764G>T c.3210G>T (p.Gln1070His) | gnomAD v4 |
15 | g.89631516C>G | CA393756810 | KIF7 | c.3213G>C (p.Gln1071His) c.3090G>C (p.Gln1030His) n.764G>C c.3210G>C (p.Gln1070His) | |
15 | g.89631516C>T | CA492292426 | KIF7 | c.3213G>A (p.Gln1071=) c.3090G>A (p.Gln1030=) n.764G>A c.3210G>A (p.Gln1070=) | gnomAD v4 |
15 | g.89631517T>A | CA393756812 | KIF7 | c.3212A>T (p.Gln1071Leu) c.3089A>T (p.Gln1030Leu) n.763A>T c.3209A>T (p.Gln1070Leu) | gnomAD v4 |
15 | g.89631517T>C | CA393756816 | KIF7 | c.3212A>G (p.Gln1071Arg) c.3089A>G (p.Gln1030Arg) n.763A>G c.3209A>G (p.Gln1070Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631517T>G | CA393756814 | KIF7 | c.3212A>C (p.Gln1071Pro) c.3089A>C (p.Gln1030Pro) n.763A>C c.3209A>C (p.Gln1070Pro) | |
15 | g.89631517T= | CA2194759442 | KIF7 | c.3212A= (p.Gln1071=) c.3089A= (p.Gln1030=) n.763A= c.3209A= (p.Gln1070=) | |
15 | g.89631518G>A | CA393756818 | KIF7 | c.3211C>T (p.Gln1071Ter) c.3088C>T (p.Gln1030Ter) n.762C>T c.3208C>T (p.Gln1070Ter) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631518G>C | CA393756820 | KIF7 | c.3211C>G (p.Gln1071Glu) c.3088C>G (p.Gln1030Glu) n.762C>G c.3208C>G (p.Gln1070Glu) | |
15 | g.89631518G= | CA2194759444 | KIF7 | c.3211C= (p.Gln1071=) c.3088C= (p.Gln1030=) n.762C= c.3208C= (p.Gln1070=) | |
15 | g.89631518G>T | CA393756822 | KIF7 | c.3211C>A (p.Gln1071Lys) c.3088C>A (p.Gln1030Lys) n.762C>A c.3208C>A (p.Gln1070Lys) | gnomAD v4 |
15 | g.89631519C>A | CA393756824 | KIF7 | c.3210G>T (p.Arg1070Ser) c.3087G>T (p.Arg1029Ser) n.761G>T c.3207G>T (p.Arg1069Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631519C= | CA2194759447 | KIF7 | c.3210G= (p.Arg1070=) c.3087G= (p.Arg1029=) n.761G= c.3207G= (p.Arg1069=) | |
15 | g.89631519C>G | CA7727838 | KIF7 | c.3210G>C (p.Arg1070Ser) c.3087G>C (p.Arg1029Ser) n.761G>C c.3207G>C (p.Arg1069Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631519C>T | CA492292427 | KIF7 | c.3210G>A (p.Arg1070=) c.3087G>A (p.Arg1029=) n.761G>A c.3207G>A (p.Arg1069=) | dbSNP gnomAD v4 |
15 | g.89631520del | CA2597978681 | KIF7 | c.3210del (p.Arg1070SerfsTer?) c.3087del (p.Arg1029SerfsTer?) n.761del c.3207del (p.Arg1069SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631520C>A | CA393756827 | KIF7 | c.3209G>T (p.Arg1070Met) c.3086G>T (p.Arg1029Met) n.760G>T c.3206G>T (p.Arg1069Met) | gnomAD v4 |
15 | g.89631520C= | CA2194759451 | KIF7 | c.3209G= (p.Arg1070=) c.3086G= (p.Arg1029=) n.760G= c.3206G= (p.Arg1069=) | |
15 | g.89631520C>G | CA393756829 | KIF7 | c.3209G>C (p.Arg1070Thr) c.3086G>C (p.Arg1029Thr) n.760G>C c.3206G>C (p.Arg1069Thr) | |
15 | g.89631520C>T | CA393756831 | KIF7 | c.3209G>A (p.Arg1070Lys) c.3086G>A (p.Arg1029Lys) n.760G>A c.3206G>A (p.Arg1069Lys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631521T>A | CA393756833 | KIF7 | c.3208A>T (p.Arg1070Trp) c.3085A>T (p.Arg1029Trp) n.759A>T c.3205A>T (p.Arg1069Trp) | gnomAD v4 |
15 | g.89631521T>C | CA393756834 | KIF7 | c.3208A>G (p.Arg1070Gly) c.3085A>G (p.Arg1029Gly) n.759A>G c.3205A>G (p.Arg1069Gly) | gnomAD v4 |
15 | g.89631521T>G | CA492292428 | KIF7 | c.3208A>C (p.Arg1070=) c.3085A>C (p.Arg1029=) n.759A>C c.3205A>C (p.Arg1069=) | |
15 | g.89631522C>A | CA492292429 | KIF7 | c.3207G>T (p.Leu1069=) c.3084G>T (p.Leu1028=) n.758G>T c.3204G>T (p.Leu1068=) | gnomAD v4 |
15 | g.89631522C>G | CA492292430 | KIF7 | c.3207G>C (p.Leu1069=) c.3084G>C (p.Leu1028=) n.758G>C c.3204G>C (p.Leu1068=) | gnomAD v4 |
15 | g.89631522C>T | CA492292431 | KIF7 | c.3207G>A (p.Leu1069=) c.3084G>A (p.Leu1028=) n.758G>A c.3204G>A (p.Leu1068=) | gnomAD v4 |
15 | g.89631523A>C | CA393756835 | KIF7 | c.3206T>G (p.Leu1069Arg) c.3083T>G (p.Leu1028Arg) n.757T>G c.3203T>G (p.Leu1068Arg) | |
15 | g.89631523A>G | CA393756837 | KIF7 | c.3206T>C (p.Leu1069Pro) c.3083T>C (p.Leu1028Pro) n.757T>C c.3203T>C (p.Leu1068Pro) | gnomAD v4 |
15 | g.89631523A>T | CA393756839 | KIF7 | c.3206T>A (p.Leu1069Gln) c.3083T>A (p.Leu1028Gln) n.757T>A c.3203T>A (p.Leu1068Gln) | gnomAD v4 |
15 | g.89631524G>A | CA492292432 | KIF7 | c.3205C>T (p.Leu1069=) c.3082C>T (p.Leu1028=) n.756C>T c.3202C>T (p.Leu1068=) | dbSNP gnomAD v4 |
15 | g.89631524G>C | CA393756841 | KIF7 | c.3205C>G (p.Leu1069Val) c.3082C>G (p.Leu1028Val) n.756C>G c.3202C>G (p.Leu1068Val) | |
15 | g.89631524G= | CA2194759453 | KIF7 | c.3205C= (p.Leu1069=) c.3082C= (p.Leu1028=) n.756C= c.3202C= (p.Leu1068=) | |
15 | g.89631524G>T | CA393756842 | KIF7 | c.3205C>A (p.Leu1069Met) c.3082C>A (p.Leu1028Met) n.756C>A c.3202C>A (p.Leu1068Met) | dbSNP gnomAD v4 |
15 | g.89631525C>A | CA274566307 | KIF7 | c.3204G>T (p.Lys1068Asn) c.3081G>T (p.Lys1027Asn) n.755G>T c.3201G>T (p.Lys1067Asn) | dbSNP gnomAD v4 |
15 | g.89631525C= | CA2194759461 | KIF7 | c.3204G= (p.Lys1068=) c.3081G= (p.Lys1027=) n.755G= c.3201G= (p.Lys1067=) | |
15 | g.89631525C>G | CA393756845 | KIF7 | c.3204G>C (p.Lys1068Asn) c.3081G>C (p.Lys1027Asn) n.755G>C c.3201G>C (p.Lys1067Asn) | |
15 | g.89631525C>T | CA492292433 | KIF7 | c.3204G>A (p.Lys1068=) c.3081G>A (p.Lys1027=) n.755G>A c.3201G>A (p.Lys1067=) | gnomAD v4 |
15 | g.89631526T>A | CA393756847 | KIF7 | c.3203A>T (p.Lys1068Met) c.3080A>T (p.Lys1027Met) n.754A>T c.3200A>T (p.Lys1067Met) | gnomAD v4 |
15 | g.89631526T>C | CA393756849 | KIF7 | c.3203A>G (p.Lys1068Arg) c.3080A>G (p.Lys1027Arg) n.754A>G c.3200A>G (p.Lys1067Arg) | |
15 | g.89631526T>G | CA393756850 | KIF7 | c.3203A>C (p.Lys1068Thr) c.3080A>C (p.Lys1027Thr) n.754A>C c.3200A>C (p.Lys1067Thr) | |
15 | g.89631527T>A | CA393756853 | KIF7 | c.3202A>T (p.Lys1068Ter) c.3079A>T (p.Lys1027Ter) n.753A>T c.3199A>T (p.Lys1067Ter) | |
15 | g.89631527T>C | CA393756855 | KIF7 | c.3202A>G (p.Lys1068Glu) c.3079A>G (p.Lys1027Glu) n.753A>G c.3199A>G (p.Lys1067Glu) | gnomAD v4 |
15 | g.89631527T>G | CA393756856 | KIF7 | c.3202A>C (p.Lys1068Gln) c.3079A>C (p.Lys1027Gln) n.753A>C c.3199A>C (p.Lys1067Gln) | |
15 | g.89631528G>A | CA492292434 | KIF7 | c.3201C>T (p.Gly1067=) c.3078C>T (p.Gly1026=) n.752C>T c.3198C>T (p.Gly1066=) | |
15 | g.89631528G>C | CA492292436 | KIF7 | c.3201C>G (p.Gly1067=) c.3078C>G (p.Gly1026=) n.752C>G c.3198C>G (p.Gly1066=) | |
15 | g.89631528G>T | CA492292435 | KIF7 | c.3201C>A (p.Gly1067=) c.3078C>A (p.Gly1026=) n.752C>A c.3198C>A (p.Gly1066=) | gnomAD v4 |
15 | g.89631529C>A | CA393756859 | KIF7 | c.3200G>T (p.Gly1067Val) c.3077G>T (p.Gly1026Val) n.751G>T c.3197G>T (p.Gly1066Val) | gnomAD v4 |
15 | g.89631529C= | CA2194759464 | KIF7 | c.3200G= (p.Gly1067=) c.3077G= (p.Gly1026=) n.751G= c.3197G= (p.Gly1066=) | |
15 | g.89631529C>G | CA393756861 | KIF7 | c.3200G>C (p.Gly1067Ala) c.3077G>C (p.Gly1026Ala) n.751G>C c.3197G>C (p.Gly1066Ala) | |
15 | g.89631529C>T | CA274566311 | KIF7 | c.3200G>A (p.Gly1067Asp) c.3077G>A (p.Gly1026Asp) n.751G>A c.3197G>A (p.Gly1066Asp) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631530del | CA2630273599 | KIF7 | c.3200del (p.Gly1067AlafsTer3) c.3077del (p.Gly1026AlafsTer3) n.751del c.3197del (p.Gly1066AlafsTer3) | gnomAD v4 |
15 | g.89631530C>A | CA393756867 | KIF7 | c.3199G>T (p.Gly1067Cys) c.3076G>T (p.Gly1026Cys) n.750G>T c.3196G>T (p.Gly1066Cys) | gnomAD v4 |
15 | g.89631530C= | CA2194759472 | KIF7 | c.3199G= (p.Gly1067=) c.3076G= (p.Gly1026=) n.750G= c.3196G= (p.Gly1066=) | |
15 | g.89631530C>G | CA393756865 | KIF7 | c.3199G>C (p.Gly1067Arg) c.3076G>C (p.Gly1026Arg) n.750G>C c.3196G>C (p.Gly1066Arg) | gnomAD v4 |
15 | g.89631530C>T | CA393756863 | KIF7 | c.3199G>A (p.Gly1067Ser) c.3076G>A (p.Gly1026Ser) n.750G>A c.3196G>A (p.Gly1066Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631531G>A | CA7727839 | KIF7 | c.3198C>T (p.Asp1066=) c.3075C>T (p.Asp1025=) n.749C>T c.3195C>T (p.Asp1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631531G>C | CA393756872 | KIF7 | c.3198C>G (p.Asp1066Glu) c.3075C>G (p.Asp1025Glu) n.749C>G c.3195C>G (p.Asp1065Glu) | |
15 | g.89631531G= | CA2194759475 | KIF7 | c.3198C= (p.Asp1066=) c.3075C= (p.Asp1025=) n.749C= c.3195C= (p.Asp1065=) | |
15 | g.89631531G>T | CA393756870 | KIF7 | c.3198C>A (p.Asp1066Glu) c.3075C>A (p.Asp1025Glu) n.749C>A c.3195C>A (p.Asp1065Glu) | gnomAD v4 |
15 | g.89631532T>A | CA393756874 | KIF7 | c.3197A>T (p.Asp1066Val) c.3074A>T (p.Asp1025Val) n.748A>T c.3194A>T (p.Asp1065Val) | |
15 | g.89631532T>C | CA393756876 | KIF7 | c.3197A>G (p.Asp1066Gly) c.3074A>G (p.Asp1025Gly) n.748A>G c.3194A>G (p.Asp1065Gly) | gnomAD v4 |
15 | g.89631532T>G | CA393756878 | KIF7 | c.3197A>C (p.Asp1066Ala) c.3074A>C (p.Asp1025Ala) n.748A>C c.3194A>C (p.Asp1065Ala) | |
15 | g.89631533C>A | CA393756880 | KIF7 | c.3196G>T (p.Asp1066Tyr) c.3073G>T (p.Asp1025Tyr) n.747G>T c.3193G>T (p.Asp1065Tyr) | gnomAD v4 |
15 | g.89631533C= | CA2194759477 | KIF7 | c.3196G= (p.Asp1066=) c.3073G= (p.Asp1025=) n.747G= c.3193G= (p.Asp1065=) | |
15 | g.89631533C>G | CA393756882 | KIF7 | c.3196G>C (p.Asp1066His) c.3073G>C (p.Asp1025His) n.747G>C c.3193G>C (p.Asp1065His) | gnomAD v4 |
15 | g.89631533C>T | CA393756884 | KIF7 | c.3196G>A (p.Asp1066Asn) c.3073G>A (p.Asp1025Asn) n.747G>A c.3193G>A (p.Asp1065Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631534G>A | CA274566331 | KIF7 | c.3195C>T (p.Ile1065=) c.3072C>T (p.Ile1024=) n.746C>T c.3192C>T (p.Ile1064=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631534G>C | CA393756887 | KIF7 | c.3195C>G (p.Ile1065Met) c.3072C>G (p.Ile1024Met) n.746C>G c.3192C>G (p.Ile1064Met) | gnomAD v4 |
15 | g.89631534G= | CA2194759480 | KIF7 | c.3195C= (p.Ile1065=) c.3072C= (p.Ile1024=) n.746C= c.3192C= (p.Ile1064=) | |
15 | g.89631534G>T | CA492292437 | KIF7 | c.3195C>A (p.Ile1065=) c.3072C>A (p.Ile1024=) n.746C>A c.3192C>A (p.Ile1064=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631535A= | CA2194759485 | KIF7 | c.3194T= (p.Ile1065=) c.3071T= (p.Ile1024=) n.745T= c.3191T= (p.Ile1064=) | |
15 | g.89631535A>C | CA393756889 | KIF7 | c.3194T>G (p.Ile1065Ser) c.3071T>G (p.Ile1024Ser) n.745T>G c.3191T>G (p.Ile1064Ser) | |
15 | g.89631535A>G | CA393756891 | KIF7 | c.3194T>C (p.Ile1065Thr) c.3071T>C (p.Ile1024Thr) n.745T>C c.3191T>C (p.Ile1064Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631535A>T | CA393756892 | KIF7 | c.3194T>A (p.Ile1065Asn) c.3071T>A (p.Ile1024Asn) n.745T>A c.3191T>A (p.Ile1064Asn) | |
15 | g.89631536T>A | CA393756894 | KIF7 | c.3193A>T (p.Ile1065Phe) c.3070A>T (p.Ile1024Phe) n.744A>T c.3190A>T (p.Ile1064Phe) | |
15 | g.89631536T>C | CA393756896 | KIF7 | c.3193A>G (p.Ile1065Val) c.3070A>G (p.Ile1024Val) n.744A>G c.3190A>G (p.Ile1064Val) | gnomAD v4 |
15 | g.89631536T>G | CA393756898 | KIF7 | c.3193A>C (p.Ile1065Leu) c.3070A>C (p.Ile1024Leu) n.744A>C c.3190A>C (p.Ile1064Leu) | |
15 | g.89631536_89631545delinsTCTCCAGGCG | CA2194759489 | KIF7 | c.3184_3193delinsCGCCTGGAGA (p.Arg1062=) c.3061_3070delinsCGCCTGGAGA (p.Arg1021=) n.735_744delinsCGCCTGGAGA c.3181_3190delinsCGCCTGGAGA (p.Arg1061=) | |
15 | g.89631537C>A | CA7727840 | KIF7 | c.3192G>T (p.Glu1064Asp) c.3069G>T (p.Glu1023Asp) n.743G>T c.3189G>T (p.Glu1063Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631537C= | CA2194759492 | KIF7 | c.3192G= (p.Glu1064=) c.3069G= (p.Glu1023=) n.743G= c.3189G= (p.Glu1063=) | |
15 | g.89631537C>G | CA393756901 | KIF7 | c.3192G>C (p.Glu1064Asp) c.3069G>C (p.Glu1023Asp) n.743G>C c.3189G>C (p.Glu1063Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631537C>T | CA492292438 | KIF7 | c.3192G>A (p.Glu1064=) c.3069G>A (p.Glu1023=) n.743G>A c.3189G>A (p.Glu1063=) | gnomAD v4 |
15 | g.89631539_89631547del | CA972615971 | KIF7 | c.3184_3192del (p.Arg1062_Glu1064del) c.3061_3069del (p.Arg1021_Glu1023del) n.735_743del c.3181_3189del (p.Arg1061_Glu1063del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631538T>A | CA393756904 | KIF7 | c.3191A>T (p.Glu1064Val) c.3068A>T (p.Glu1023Val) n.742A>T c.3188A>T (p.Glu1063Val) | gnomAD v4 |
15 | g.89631538T>C | CA393756906 | KIF7 | c.3191A>G (p.Glu1064Gly) c.3068A>G (p.Glu1023Gly) n.742A>G c.3188A>G (p.Glu1063Gly) | gnomAD v4 |
15 | g.89631538T>G | CA393756907 | KIF7 | c.3191A>C (p.Glu1064Ala) c.3068A>C (p.Glu1023Ala) n.742A>C c.3188A>C (p.Glu1063Ala) | |
15 | g.89631539C>A | CA393756910 | KIF7 | c.3190G>T (p.Glu1064Ter) c.3067G>T (p.Glu1023Ter) n.741G>T c.3187G>T (p.Glu1063Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.89631539C= | CA2194759496 | KIF7 | c.3190G= (p.Glu1064=) c.3067G= (p.Glu1023=) n.741G= c.3187G= (p.Glu1063=) | |
15 | g.89631539C>G | CA393756912 | KIF7 | c.3190G>C (p.Glu1064Gln) c.3067G>C (p.Glu1023Gln) n.741G>C c.3187G>C (p.Glu1063Gln) | ClinVar |
15 | g.89631539C>T | CA7727841 | KIF7 | c.3190G>A (p.Glu1064Lys) c.3067G>A (p.Glu1023Lys) n.741G>A c.3187G>A (p.Glu1063Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631540del | CA2630273675 | KIF7 | c.3190del (p.Glu1064ArgfsTer6) c.3067del (p.Glu1023ArgfsTer6) n.741del c.3187del (p.Glu1063ArgfsTer6) | gnomAD v4 |
15 | g.89631540C>A | CA492292439 | KIF7 | c.3189G>T (p.Leu1063=) c.3066G>T (p.Leu1022=) n.740G>T c.3186G>T (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631540C= | CA2194759499 | KIF7 | c.3189G= (p.Leu1063=) c.3066G= (p.Leu1022=) n.740G= c.3186G= (p.Leu1062=) | |
15 | g.89631540C>G | CA492292440 | KIF7 | c.3189G>C (p.Leu1063=) c.3066G>C (p.Leu1022=) n.740G>C c.3186G>C (p.Leu1062=) | |
15 | g.89631540C>T | CA492292441 | KIF7 | c.3189G>A (p.Leu1063=) c.3066G>A (p.Leu1022=) n.740G>A c.3186G>A (p.Leu1062=) | gnomAD v4 |
15 | g.89631541A>C | CA393756915 | KIF7 | c.3188T>G (p.Leu1063Arg) c.3065T>G (p.Leu1022Arg) n.739T>G c.3185T>G (p.Leu1062Arg) | gnomAD v4 |
15 | g.89631541A>G | CA393756917 | KIF7 | c.3188T>C (p.Leu1063Pro) c.3065T>C (p.Leu1022Pro) n.739T>C c.3185T>C (p.Leu1062Pro) | gnomAD v4 |
15 | g.89631541A>T | CA393756919 | KIF7 | c.3188T>A (p.Leu1063Gln) c.3065T>A (p.Leu1022Gln) n.739T>A c.3185T>A (p.Leu1062Gln) | gnomAD v4 |
15 | g.89631542G>A | CA492292442 | KIF7 | c.3187C>T (p.Leu1063=) c.3064C>T (p.Leu1022=) n.738C>T c.3184C>T (p.Leu1062=) | ClinVar gnomAD v4 |
15 | g.89631542G>C | CA393756922 | KIF7 | c.3187C>G (p.Leu1063Val) c.3064C>G (p.Leu1022Val) n.738C>G c.3184C>G (p.Leu1062Val) | gnomAD v4 |
15 | g.89631542G>T | CA393756924 | KIF7 | c.3187C>A (p.Leu1063Met) c.3064C>A (p.Leu1022Met) n.738C>A c.3184C>A (p.Leu1062Met) | |
15 | g.89631543G>A | CA492292443 | KIF7 | c.3186C>T (p.Arg1062=) c.3063C>T (p.Arg1021=) n.737C>T c.3183C>T (p.Arg1061=) | gnomAD v4 |
15 | g.89631543G>C | CA492292444 | KIF7 | c.3186C>G (p.Arg1062=) c.3063C>G (p.Arg1021=) n.737C>G c.3183C>G (p.Arg1061=) | |
15 | g.89631543G>T | CA492292445 | KIF7 | c.3186C>A (p.Arg1062=) c.3063C>A (p.Arg1021=) n.737C>A c.3183C>A (p.Arg1061=) | |
15 | g.89631544C>A | CA393756930 | KIF7 | c.3185G>T (p.Arg1062Leu) c.3062G>T (p.Arg1021Leu) n.736G>T c.3182G>T (p.Arg1061Leu) | gnomAD v4 |
15 | g.89631544C= | CA2194759501 | KIF7 | c.3185G= (p.Arg1062=) c.3062G= (p.Arg1021=) n.736G= c.3182G= (p.Arg1061=) | |
15 | g.89631544C>G | CA393756928 | KIF7 | c.3185G>C (p.Arg1062Pro) c.3062G>C (p.Arg1021Pro) n.736G>C c.3182G>C (p.Arg1061Pro) | |
15 | g.89631544C>T | CA393756926 | KIF7 | c.3185G>A (p.Arg1062His) c.3062G>A (p.Arg1021His) n.736G>A c.3182G>A (p.Arg1061His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.89631544_89631545insTTGAGCA | CA7727842 | KIF7 | c.3184_3185insTGCTCAA (p.Arg1062LeufsTer29) c.3061_3062insTGCTCAA (p.Arg1021LeufsTer29) n.735_736insTGCTCAA c.3181_3182insTGCTCAA (p.Arg1061LeufsTer29) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631545G>A | CA7727843 | KIF7 | c.3184C>T (p.Arg1062Cys) c.3061C>T (p.Arg1021Cys) n.735C>T c.3181C>T (p.Arg1061Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631545G>C | CA393756932 | KIF7 | c.3184C>G (p.Arg1062Gly) c.3061C>G (p.Arg1021Gly) n.735C>G c.3181C>G (p.Arg1061Gly) | gnomAD v4 |
15 | g.89631545G= | CA2194759504 | KIF7 | c.3184C= (p.Arg1062=) c.3061C= (p.Arg1021=) n.735C= c.3181C= (p.Arg1061=) | |
15 | g.89631545G>T | CA393756933 | KIF7 | c.3184C>A (p.Arg1062Ser) c.3061C>A (p.Arg1021Ser) n.735C>A c.3181C>A (p.Arg1061Ser) | gnomAD v4 |
15 | g.89631546C>A | CA393756934 | KIF7 | c.3183G>T (p.Gln1061His) c.3060G>T (p.Gln1020His) n.734G>T c.3180G>T (p.Gln1060His) | gnomAD v4 |
15 | g.89631546C= | CA2194759505 | KIF7 | c.3183G= (p.Gln1061=) c.3060G= (p.Gln1020=) n.734G= c.3180G= (p.Gln1060=) | |
15 | g.89631546C>G | CA393756935 | KIF7 | c.3183G>C (p.Gln1061His) c.3060G>C (p.Gln1020His) n.734G>C c.3180G>C (p.Gln1060His) | gnomAD v4 |
15 | g.89631546C>T | CA274566360 | KIF7 | c.3183G>A (p.Gln1061=) c.3060G>A (p.Gln1020=) n.734G>A c.3180G>A (p.Gln1060=) | dbSNP gnomAD v4 |
15 | g.89631547T>A | CA393756942 | KIF7 | c.3182A>T (p.Gln1061Leu) c.3059A>T (p.Gln1020Leu) n.733A>T c.3179A>T (p.Gln1060Leu) | |
15 | g.89631547T>C | CA393756938 | KIF7 | c.3182A>G (p.Gln1061Arg) c.3059A>G (p.Gln1020Arg) n.733A>G c.3179A>G (p.Gln1060Arg) | gnomAD v4 |
15 | g.89631547T>G | CA393756939 | KIF7 | c.3182A>C (p.Gln1061Pro) c.3059A>C (p.Gln1020Pro) n.733A>C c.3179A>C (p.Gln1060Pro) | |
15 | g.89631548G>A | CA393756944 | KIF7 | c.3181C>T (p.Gln1061Ter) c.3058C>T (p.Gln1020Ter) n.732C>T c.3178C>T (p.Gln1060Ter) | gnomAD v4 |
15 | g.89631548G>C | CA393756946 | KIF7 | c.3181C>G (p.Gln1061Glu) c.3058C>G (p.Gln1020Glu) n.732C>G c.3178C>G (p.Gln1060Glu) | gnomAD v4 |
15 | g.89631548G>T | CA393756948 | KIF7 | c.3181C>A (p.Gln1061Lys) c.3058C>A (p.Gln1020Lys) n.732C>A c.3178C>A (p.Gln1060Lys) | gnomAD v4 |
15 | g.89631549C>A | CA393756950 | KIF7 | c.3180G>T (p.Lys1060Asn) c.3057G>T (p.Lys1019Asn) n.731G>T c.3177G>T (p.Lys1059Asn) | gnomAD v4 |
15 | g.89631549C= | CA2194759506 | KIF7 | c.3180G= (p.Lys1060=) c.3057G= (p.Lys1019=) n.731G= c.3177G= (p.Lys1059=) | |
15 | g.89631549C>G | CA7727844 | KIF7 | c.3180G>C (p.Lys1060Asn) c.3057G>C (p.Lys1019Asn) n.731G>C c.3177G>C (p.Lys1059Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631549C>T | CA492292446 | KIF7 | c.3180G>A (p.Lys1060=) c.3057G>A (p.Lys1019=) n.731G>A c.3177G>A (p.Lys1059=) | gnomAD v4 |
15 | g.89631550T>A | CA393756954 | KIF7 | c.3179A>T (p.Lys1060Met) c.3056A>T (p.Lys1019Met) n.730A>T c.3176A>T (p.Lys1059Met) | |
15 | g.89631550T>C | CA7727845 | KIF7 | c.3179A>G (p.Lys1060Arg) c.3056A>G (p.Lys1019Arg) n.730A>G c.3176A>G (p.Lys1059Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631550T>G | CA393756956 | KIF7 | c.3179A>C (p.Lys1060Thr) c.3056A>C (p.Lys1019Thr) n.730A>C c.3176A>C (p.Lys1059Thr) | |
15 | g.89631550T= | CA2194759507 | KIF7 | c.3179A= (p.Lys1060=) c.3056A= (p.Lys1019=) n.730A= c.3176A= (p.Lys1059=) | |
15 | g.89631551T>A | CA393756960 | KIF7 | c.3178A>T (p.Lys1060Ter) c.3055A>T (p.Lys1019Ter) n.729A>T c.3175A>T (p.Lys1059Ter) | |
15 | g.89631551T>C | CA393756962 | KIF7 | c.3178A>G (p.Lys1060Glu) c.3055A>G (p.Lys1019Glu) n.729A>G c.3175A>G (p.Lys1059Glu) | |
15 | g.89631551T>G | CA393756963 | KIF7 | c.3178A>C (p.Lys1060Gln) c.3055A>C (p.Lys1019Gln) n.729A>C c.3175A>C (p.Lys1059Gln) | COSMIC COSMIC |
15 | g.89631552G>A | CA492292447 | KIF7 | c.3177C>T (p.Leu1059=) c.3054C>T (p.Leu1018=) n.728C>T c.3174C>T (p.Leu1058=) | gnomAD v4 |
15 | g.89631552G>C | CA492292448 | KIF7 | c.3177C>G (p.Leu1059=) c.3054C>G (p.Leu1018=) n.728C>G c.3174C>G (p.Leu1058=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631552G= | CA2194759508 | KIF7 | c.3177C= (p.Leu1059=) c.3054C= (p.Leu1018=) n.728C= c.3174C= (p.Leu1058=) | |
15 | g.89631552G>T | CA492292449 | KIF7 | c.3177C>A (p.Leu1059=) c.3054C>A (p.Leu1018=) n.728C>A c.3174C>A (p.Leu1058=) | gnomAD v4 |
15 | g.89631553A>C | CA393756965 | KIF7 | c.3176T>G (p.Leu1059Arg) c.3053T>G (p.Leu1018Arg) n.727T>G c.3173T>G (p.Leu1058Arg) | |
15 | g.89631553A>G | CA393756967 | KIF7 | c.3176T>C (p.Leu1059Pro) c.3053T>C (p.Leu1018Pro) n.727T>C c.3173T>C (p.Leu1058Pro) | gnomAD v4 |
15 | g.89631553A>T | CA393756969 | KIF7 | c.3176T>A (p.Leu1059His) c.3053T>A (p.Leu1018His) n.727T>A c.3173T>A (p.Leu1058His) | |
15 | g.89631554G>A | CA393756970 | KIF7 | c.3175C>T (p.Leu1059Phe) c.3052C>T (p.Leu1018Phe) n.726C>T c.3172C>T (p.Leu1058Phe) | |
15 | g.89631554G>C | CA393756971 | KIF7 | c.3175C>G (p.Leu1059Val) c.3052C>G (p.Leu1018Val) n.726C>G c.3172C>G (p.Leu1058Val) | |
15 | g.89631554G>T | CA393756972 | KIF7 | c.3175C>A (p.Leu1059Ile) c.3052C>A (p.Leu1018Ile) n.726C>A c.3172C>A (p.Leu1058Ile) | gnomAD v4 |
15 | g.89631555C>A | CA492292450 | KIF7 | c.3174G>T (p.Leu1058=) c.3051G>T (p.Leu1017=) n.725G>T c.3171G>T (p.Leu1057=) | gnomAD v4 COSMIC COSMIC |
15 | g.89631555C= | CA2194759509 | KIF7 | c.3174G= (p.Leu1058=) c.3051G= (p.Leu1017=) n.725G= c.3171G= (p.Leu1057=) | |
15 | g.89631555C>G | CA492292451 | KIF7 | c.3174G>C (p.Leu1058=) c.3051G>C (p.Leu1017=) n.725G>C c.3171G>C (p.Leu1057=) | |
15 | g.89631555C>T | CA7727846 | KIF7 | c.3174G>A (p.Leu1058=) c.3051G>A (p.Leu1017=) n.725G>A c.3171G>A (p.Leu1057=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631556A>C | CA393756975 | KIF7 | c.3173T>G (p.Leu1058Arg) c.3050T>G (p.Leu1017Arg) n.724T>G c.3170T>G (p.Leu1057Arg) | |
15 | g.89631556A>G | CA393756974 | KIF7 | c.3173T>C (p.Leu1058Pro) c.3050T>C (p.Leu1017Pro) n.724T>C c.3170T>C (p.Leu1057Pro) | |
15 | g.89631556A>T | CA393756973 | KIF7 | c.3173T>A (p.Leu1058Gln) c.3050T>A (p.Leu1017Gln) n.724T>A c.3170T>A (p.Leu1057Gln) | gnomAD v4 |
15 | g.89631558_89631561del | CA2630273748 | KIF7 | c.3170_3173del (p.Ser1057CysfsTer12) c.3047_3050del (p.Ser1016CysfsTer12) n.721_724del c.3167_3170del (p.Ser1056CysfsTer12) | gnomAD v4 |
15 | g.89631557G>A | CA492292452 | KIF7 | c.3172C>T (p.Leu1058=) c.3049C>T (p.Leu1017=) n.723C>T c.3169C>T (p.Leu1057=) | gnomAD v4 |
15 | g.89631557G>C | CA393756976 | KIF7 | c.3172C>G (p.Leu1058Val) c.3049C>G (p.Leu1017Val) n.723C>G c.3169C>G (p.Leu1057Val) | gnomAD v4 |
15 | g.89631557G>T | CA393756977 | KIF7 | c.3172C>A (p.Leu1058Met) c.3049C>A (p.Leu1017Met) n.723C>A c.3169C>A (p.Leu1057Met) | gnomAD v4 |
15 | g.89631558C>A | CA492292454 | KIF7 | c.3171G>T (p.Ser1057=) c.3048G>T (p.Ser1016=) n.722G>T c.3168G>T (p.Ser1056=) | gnomAD v4 |
15 | g.89631558C= | CA2194759510 | KIF7 | c.3171G= (p.Ser1057=) c.3048G= (p.Ser1016=) n.722G= c.3168G= (p.Ser1056=) | |
15 | g.89631558C>G | CA492292453 | KIF7 | c.3171G>C (p.Ser1057=) c.3048G>C (p.Ser1016=) n.722G>C c.3168G>C (p.Ser1056=) | dbSNP |
15 | g.89631558C>T | CA020341 | KIF7 | c.3171G>A (p.Ser1057=) c.3048G>A (p.Ser1016=) n.722G>A c.3168G>A (p.Ser1056=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631559G>A | CA7727847 | KIF7 | c.3170C>T (p.Ser1057Leu) c.3047C>T (p.Ser1016Leu) n.721C>T c.3167C>T (p.Ser1056Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631559G>C | CA393756978 | KIF7 | c.3170C>G (p.Ser1057Trp) c.3047C>G (p.Ser1016Trp) n.721C>G c.3167C>G (p.Ser1056Trp) | |
15 | g.89631559G= | CA2194759511 | KIF7 | c.3170C= (p.Ser1057=) c.3047C= (p.Ser1016=) n.721C= c.3167C= (p.Ser1056=) | |
15 | g.89631559G>T | CA393756979 | KIF7 | c.3170C>A (p.Ser1057Ter) c.3047C>A (p.Ser1016Ter) n.721C>A c.3167C>A (p.Ser1056Ter) | gnomAD v4 |
15 | g.89631560A= | CA2194759512 | KIF7 | c.3169T= (p.Ser1057=) c.3046T= (p.Ser1016=) n.720T= c.3166T= (p.Ser1056=) | |
15 | g.89631560A>C | CA393756980 | KIF7 | c.3169T>G (p.Ser1057Ala) c.3046T>G (p.Ser1016Ala) n.720T>G c.3166T>G (p.Ser1056Ala) | |
15 | g.89631560A>G | CA393756981 | KIF7 | c.3169T>C (p.Ser1057Pro) c.3046T>C (p.Ser1016Pro) n.720T>C c.3166T>C (p.Ser1056Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631560A>T | CA393756982 | KIF7 | c.3169T>A (p.Ser1057Thr) c.3046T>A (p.Ser1016Thr) n.720T>A c.3166T>A (p.Ser1056Thr) | gnomAD v4 |
15 | g.89631561G>A | CA274566398 | KIF7 | c.3168C>T (p.Asp1056=) c.3045C>T (p.Asp1015=) n.719C>T c.3165C>T (p.Asp1055=) | dbSNP gnomAD v4 |
15 | g.89631561G>C | CA7727848 | KIF7 | c.3168C>G (p.Asp1056Glu) c.3045C>G (p.Asp1015Glu) n.719C>G c.3165C>G (p.Asp1055Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631561G= | CA2194759514 | KIF7 | c.3168C= (p.Asp1056=) c.3045C= (p.Asp1015=) n.719C= c.3165C= (p.Asp1055=) | |
15 | g.89631561G>T | CA393756983 | KIF7 | c.3168C>A (p.Asp1056Glu) c.3045C>A (p.Asp1015Glu) n.719C>A c.3165C>A (p.Asp1055Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631562T>A | CA393756984 | KIF7 | c.3167A>T (p.Asp1056Val) c.3044A>T (p.Asp1015Val) n.718A>T c.3164A>T (p.Asp1055Val) | gnomAD v4 |
15 | g.89631562T>C | CA393756985 | KIF7 | c.3167A>G (p.Asp1056Gly) c.3044A>G (p.Asp1015Gly) n.718A>G c.3164A>G (p.Asp1055Gly) | COSMIC COSMIC |
15 | g.89631562T>G | CA393756986 | KIF7 | c.3167A>C (p.Asp1056Ala) c.3044A>C (p.Asp1015Ala) n.718A>C c.3164A>C (p.Asp1055Ala) | |
15 | g.89631563C>A | CA393756987 | KIF7 | c.3166G>T (p.Asp1056Tyr) c.3043G>T (p.Asp1015Tyr) n.717G>T c.3163G>T (p.Asp1055Tyr) | gnomAD v4 |
15 | g.89631563C= | CA2194759515 | KIF7 | c.3166G= (p.Asp1056=) c.3043G= (p.Asp1015=) n.717G= c.3163G= (p.Asp1055=) | |
15 | g.89631563C>G | CA393756988 | KIF7 | c.3166G>C (p.Asp1056His) c.3043G>C (p.Asp1015His) n.717G>C c.3163G>C (p.Asp1055His) | |
15 | g.89631563C>T | CA393756989 | KIF7 | c.3166G>A (p.Asp1056Asn) c.3043G>A (p.Asp1015Asn) n.717G>A c.3163G>A (p.Asp1055Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631563_89631566delinsCCTT | CA2194759516 | KIF7 | c.3163_3166delinsAAGG (p.Lys1055=) c.3040_3043delinsAAGG (p.Lys1014=) n.714_717delinsAAGG c.3160_3163delinsAAGG (p.Lys1054=) | |
15 | g.89631563_89631584del | CA2630273775 | KIF7 | c.3145_3166del (p.Asp1049ThrfsTer14) c.3022_3043del (p.Asp1008ThrfsTer14) n.696_717del c.3142_3163del (p.Asp1048ThrfsTer14) | gnomAD v4 |
15 | g.89631564C>A | CA393756990 | KIF7 | c.3165G>T (p.Lys1055Asn) c.3042G>T (p.Lys1014Asn) n.716G>T c.3162G>T (p.Lys1054Asn) | gnomAD v4 |
15 | g.89631564C= | CA2194759517 | KIF7 | c.3165G= (p.Lys1055=) c.3042G= (p.Lys1014=) n.716G= c.3162G= (p.Lys1054=) | |
15 | g.89631564C>G | CA7727849 | KIF7 | c.3165G>C (p.Lys1055Asn) c.3042G>C (p.Lys1014Asn) n.716G>C c.3162G>C (p.Lys1054Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631564C>T | CA492292455 | KIF7 | c.3165G>A (p.Lys1055=) c.3042G>A (p.Lys1014=) n.716G>A c.3162G>A (p.Lys1054=) | gnomAD v4 |
15 | g.89631566_89631568del | CA645591455 | KIF7 | c.3163_3165del (p.Lys1055del) c.3040_3042del (p.Lys1014del) n.714_716del c.3160_3162del (p.Lys1054del) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
15 | g.89631565T>A | CA393756991 | KIF7 | c.3164A>T (p.Lys1055Met) c.3041A>T (p.Lys1014Met) n.715A>T c.3161A>T (p.Lys1054Met) | |
15 | g.89631565T>C | CA393756992 | KIF7 | c.3164A>G (p.Lys1055Arg) c.3041A>G (p.Lys1014Arg) n.715A>G c.3161A>G (p.Lys1054Arg) | |
15 | g.89631565T>G | CA393756993 | KIF7 | c.3164A>C (p.Lys1055Thr) c.3041A>C (p.Lys1014Thr) n.715A>C c.3161A>C (p.Lys1054Thr) | |
15 | g.89631566T>A | CA393756994 | KIF7 | c.3163A>T (p.Lys1055Ter) c.3040A>T (p.Lys1014Ter) n.714A>T c.3160A>T (p.Lys1054Ter) | gnomAD v4 |
15 | g.89631566T>C | CA7727850 | KIF7 | c.3163A>G (p.Lys1055Glu) c.3040A>G (p.Lys1014Glu) n.714A>G c.3160A>G (p.Lys1054Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631566T>G | CA393756995 | KIF7 | c.3163A>C (p.Lys1055Gln) c.3040A>C (p.Lys1014Gln) n.714A>C c.3160A>C (p.Lys1054Gln) | |
15 | g.89631566T= | CA2194759518 | KIF7 | c.3163A= (p.Lys1055=) c.3040A= (p.Lys1014=) n.714A= c.3160A= (p.Lys1054=) | |
15 | g.89631566_89631569delinsTCTC | CA2194759519 | KIF7 | c.3160_3163delinsGAGA (p.Glu1054=) c.3037_3040delinsGAGA (p.Glu1013=) n.711_714delinsGAGA c.3157_3160delinsGAGA (p.Glu1053=) | |
15 | g.89631567C>A | CA7727851 | KIF7 | c.3162G>T (p.Glu1054Asp) c.3039G>T (p.Glu1013Asp) n.713G>T c.3159G>T (p.Glu1053Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631567C= | CA2194759523 | KIF7 | c.3162G= (p.Glu1054=) c.3039G= (p.Glu1013=) n.713G= c.3159G= (p.Glu1053=) | |
15 | g.89631567C>G | CA393756996 | KIF7 | c.3162G>C (p.Glu1054Asp) c.3039G>C (p.Glu1013Asp) n.713G>C c.3159G>C (p.Glu1053Asp) | |
15 | g.89631567C>T | CA492292456 | KIF7 | c.3162G>A (p.Glu1054=) c.3039G>A (p.Glu1013=) n.713G>A c.3159G>A (p.Glu1053=) | gnomAD v4 |
15 | g.89631569_89631571del | CA619858258 | KIF7 | c.3160_3162del (p.Glu1054del) c.3037_3039del (p.Glu1013del) n.711_713del c.3157_3159del (p.Glu1053del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631568T>A | CA393756997 | KIF7 | c.3161A>T (p.Glu1054Val) c.3038A>T (p.Glu1013Val) n.712A>T c.3158A>T (p.Glu1053Val) | gnomAD v4 |
15 | g.89631568T>C | CA393756998 | KIF7 | c.3161A>G (p.Glu1054Gly) c.3038A>G (p.Glu1013Gly) n.712A>G c.3158A>G (p.Glu1053Gly) | |
15 | g.89631568T>G | CA393756999 | KIF7 | c.3161A>C (p.Glu1054Ala) c.3038A>C (p.Glu1013Ala) n.712A>C c.3158A>C (p.Glu1053Ala) | |
15 | g.89631569C>A | CA393757002 | KIF7 | c.3160G>T (p.Glu1054Ter) c.3037G>T (p.Glu1013Ter) n.711G>T c.3157G>T (p.Glu1053Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631569C= | CA2194759527 | KIF7 | c.3160G= (p.Glu1054=) c.3037G= (p.Glu1013=) n.711G= c.3157G= (p.Glu1053=) | |
15 | g.89631569C>G | CA393757001 | KIF7 | c.3160G>C (p.Glu1054Gln) c.3037G>C (p.Glu1013Gln) n.711G>C c.3157G>C (p.Glu1053Gln) | |
15 | g.89631569C>T | CA393757000 | KIF7 | c.3160G>A (p.Glu1054Lys) c.3037G>A (p.Glu1013Lys) n.711G>A c.3157G>A (p.Glu1053Lys) | gnomAD v4 |
15 | g.89631570C>A | CA393757003 | KIF7 | c.3159G>T (p.Gln1053His) c.3036G>T (p.Gln1012His) n.710G>T c.3156G>T (p.Gln1052His) | gnomAD v4 |
15 | g.89631570C>G | CA393757006 | KIF7 | c.3159G>C (p.Gln1053His) c.3036G>C (p.Gln1012His) n.710G>C c.3156G>C (p.Gln1052His) | gnomAD v4 |
15 | g.89631570C>T | CA492292457 | KIF7 | c.3159G>A (p.Gln1053=) c.3036G>A (p.Gln1012=) n.710G>A c.3156G>A (p.Gln1052=) | |
15 | g.89631571T>A | CA393757008 | KIF7 | c.3158A>T (p.Gln1053Leu) c.3035A>T (p.Gln1012Leu) n.709A>T c.3155A>T (p.Gln1052Leu) | |
15 | g.89631571T>C | CA393757010 | KIF7 | c.3158A>G (p.Gln1053Arg) c.3035A>G (p.Gln1012Arg) n.709A>G c.3155A>G (p.Gln1052Arg) | gnomAD v4 |
15 | g.89631571T>G | CA393757012 | KIF7 | c.3158A>C (p.Gln1053Pro) c.3035A>C (p.Gln1012Pro) n.709A>C c.3155A>C (p.Gln1052Pro) | |
15 | g.89631572G>A | CA393757019 | KIF7 | c.3157C>T (p.Gln1053Ter) c.3034C>T (p.Gln1012Ter) n.708C>T c.3154C>T (p.Gln1052Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631572G>C | CA393757017 | KIF7 | c.3157C>G (p.Gln1053Glu) c.3034C>G (p.Gln1012Glu) n.708C>G c.3154C>G (p.Gln1052Glu) | |
15 | g.89631572G= | CA2194759530 | KIF7 | c.3157C= (p.Gln1053=) c.3034C= (p.Gln1012=) n.708C= c.3154C= (p.Gln1052=) | |
15 | g.89631572G>T | CA393757014 | KIF7 | c.3157C>A (p.Gln1053Lys) c.3034C>A (p.Gln1012Lys) n.708C>A c.3154C>A (p.Gln1052Lys) | gnomAD v4 |
15 | g.89631573G>A | CA492292458 | KIF7 | c.3156C>T (p.Arg1052=) c.3033C>T (p.Arg1011=) n.707C>T c.3153C>T (p.Arg1051=) | |
15 | g.89631573G>C | CA492292459 | KIF7 | c.3156C>G (p.Arg1052=) c.3033C>G (p.Arg1011=) n.707C>G c.3153C>G (p.Arg1051=) | |
15 | g.89631573G>T | CA492292460 | KIF7 | c.3156C>A (p.Arg1052=) c.3033C>A (p.Arg1011=) n.707C>A c.3153C>A (p.Arg1051=) | |
15 | g.89631574C>A | CA393757022 | KIF7 | c.3155G>T (p.Arg1052Leu) c.3032G>T (p.Arg1011Leu) n.706G>T c.3152G>T (p.Arg1051Leu) | gnomAD v4 |
15 | g.89631574C= | CA2194759535 | KIF7 | c.3155G= (p.Arg1052=) c.3032G= (p.Arg1011=) n.706G= c.3152G= (p.Arg1051=) | |
15 | g.89631574C>G | CA393757023 | KIF7 | c.3155G>C (p.Arg1052Pro) c.3032G>C (p.Arg1011Pro) n.706G>C c.3152G>C (p.Arg1051Pro) | gnomAD v4 |
15 | g.89631574C>T | CA7727852 | KIF7 | c.3155G>A (p.Arg1052His) c.3032G>A (p.Arg1011His) n.706G>A c.3152G>A (p.Arg1051His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |