2 | g.219060087dup | CA2663194953 | IHH | c.315+70dup (n.315+70dup)
| gnomAD v4 |
2 | g.219060087del | CA2577248549 | IHH | c.315+70del (n.315+70del)
| gnomAD v4 |
2 | g.219060086G>A | CA2663194956 | IHH | c.315+67C>T (n.315+67C>T)
| gnomAD v4 |
2 | g.219060086G= | CA1329042519 | IHH | c.315+67C= (n.315+67C=)
| |
2 | g.219060086G>T | CA539621520 | IHH | c.315+67C>A (n.315+67C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060087G>A | CA2663194957 | IHH | c.315+66C>T (n.315+66C>T)
| gnomAD v4 |
2 | g.219060087G>T | CA2663194958 | IHH | c.315+66C>A (n.315+66C>A)
| gnomAD v4 |
2 | g.219060088del | CA2663194959 | IHH | c.315+65del (n.315+65del)
| gnomAD v4 |
2 | g.219060088T>A | CA2843242323 | IHH | c.315+65A>T (n.315+65A>T)
| |
2 | g.219060088T>C | CA1329042520 | IHH | c.315+65A>G (n.315+65A>G)
| dbSNP |
2 | g.219060088T>G | CA1042494006 | IHH | c.315+65A>C (n.315+65A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060088T= | CA1329042521 | IHH | c.315+65A= (n.315+65A=)
| |
2 | g.219060089G>A | CA2663194960 | IHH | c.315+64C>T (n.315+64C>T)
| gnomAD v4 |
2 | g.219060089G>T | CA2577248553 | IHH | c.315+64C>A (n.315+64C>A)
| gnomAD v4 |
2 | g.219060091del | CA2577248552 | IHH | c.315+64del (n.315+64del)
| gnomAD v4 |
2 | g.219060090G>A | CA2663194961 | IHH | c.315+63C>T (n.315+63C>T)
| gnomAD v4 |
2 | g.219060090G>T | CA2663194962 | IHH | c.315+63C>A (n.315+63C>A)
| gnomAD v4 |
2 | g.219060091G>A | CA2663194963 | IHH | c.315+62C>T (n.315+62C>T)
| gnomAD v4 |
2 | g.219060091G>T | CA2663194964 | IHH | c.315+62C>A (n.315+62C>A)
| gnomAD v4 |
2 | g.219060092T>A | CA65951008 | IHH | c.315+61A>T (n.315+61A>T)
| dbSNP |
2 | g.219060092T>C | CA2663194965 | IHH | c.315+61A>G (n.315+61A>G)
| gnomAD v4 |
2 | g.219060092T= | CA1329042522 | IHH | c.315+61A= (n.315+61A=)
| |
2 | g.219060093A>C | CA2754315613 | IHH | c.315+60T>G (n.315+60T>G)
| |
2 | g.219060093A>G | CA2663194966 | IHH | c.315+60T>C (n.315+60T>C)
| gnomAD v4 |
2 | g.219060093A>T | CA2607445920 | IHH | c.315+60T>A (n.315+60T>A)
| gnomAD v3 gnomAD v4 |
2 | g.219060094G>A | CA2663194967 | IHH | c.315+59C>T (n.315+59C>T)
| gnomAD v4 |
2 | g.219060094G>C | CA65951018 | IHH | c.315+59C>G (n.315+59C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060094G= | CA1329042523 | IHH | c.315+59C= (n.315+59C=)
| |
2 | g.219060094G>T | CA2577248554 | IHH | c.315+59C>A (n.315+59C>A)
| gnomAD v4 |
2 | g.219060096dup | CA2843242324 | IHH | c.315+59dup (n.315+59dup)
| |
2 | g.219060095G>T | CA2663194968 | IHH | c.315+58C>A (n.315+58C>A)
| gnomAD v4 |
2 | g.219060100_219060111del | CA2523046360 | IHH | c.315+47_315+58del (n.315+47_315+58del)
| |
2 | g.219060096G>A | CA764945817 | IHH | c.315+57C>T (n.315+57C>T)
| dbSNP gnomAD v4 |
2 | g.219060096G>C | CA2663194969 | IHH | c.315+57C>G (n.315+57C>G)
| gnomAD v4 |
2 | g.219060096G= | CA1329042524 | IHH | c.315+57C= (n.315+57C=)
| |
2 | g.219060096G>T | CA2577248555 | IHH | c.315+57C>A (n.315+57C>A)
| gnomAD v4 |
2 | g.219060097C>A | CA2663194970 | IHH | c.315+56G>T (n.315+56G>T)
| gnomAD v4 |
2 | g.219060097C= | CA1329042525 | IHH | c.315+56G= (n.315+56G=)
| |
2 | g.219060097C>T | CA764945818 | IHH | c.315+56G>A (n.315+56G>A)
| dbSNP gnomAD v4 |
2 | g.219060098C>A | CA2663194971 | IHH | c.315+55G>T (n.315+55G>T)
| gnomAD v4 |
2 | g.219060098C= | CA1329042526 | IHH | c.315+55G= (n.315+55G=)
| |
2 | g.219060098C>T | CA1329042527 | IHH | c.315+55G>A (n.315+55G>A)
| dbSNP gnomAD v4 |
2 | g.219060099G>A | CA65951021 | IHH | c.315+54C>T (n.315+54C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060099G>C | CA1042494016 | IHH | c.315+54C>G (n.315+54C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060099G= | CA1329042528 | IHH | c.315+54C= (n.315+54C=)
| |
2 | g.219060099G>T | CA65951028 | IHH | c.315+54C>A (n.315+54C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060101del | CA2663194972 | IHH | c.315+54del (n.315+54del)
| gnomAD v4 |
2 | g.219060100G>A | CA2663194973 | IHH | c.315+53C>T (n.315+53C>T)
| gnomAD v4 |
2 | g.219060100G>C | CA2754315614 | IHH | c.315+53C>G (n.315+53C>G)
| |
2 | g.219060100G>T | CA2663194974 | IHH | c.315+53C>A (n.315+53C>A)
| gnomAD v4 |
2 | g.219060101G>A | CA2663194975 | IHH | c.315+52C>T (n.315+52C>T)
| gnomAD v4 |
2 | g.219060101G>T | CA2577248556 | IHH | c.315+52C>A (n.315+52C>A)
| gnomAD v4 |
2 | g.219060102C>A | CA2663194976 | IHH | c.315+51G>T (n.315+51G>T)
| gnomAD v4 |
2 | g.219060102C= | CA1329042529 | IHH | c.315+51G= (n.315+51G=)
| |
2 | g.219060102C>T | CA2116720 | IHH | c.315+51G>A (n.315+51G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060103A= | CA1329042530 | IHH | c.315+50T= (n.315+50T=)
| |
2 | g.219060103A>G | CA2663194977 | IHH | c.315+50T>C (n.315+50T>C)
| gnomAD v4 |
2 | g.219060103A>T | CA1329042531 | IHH | c.315+50T>A (n.315+50T>A)
| dbSNP |
2 | g.219060104G>A | CA2116721 | IHH | c.315+49C>T (n.315+49C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060104G= | CA1329042532 | IHH | c.315+49C= (n.315+49C=)
| |
2 | g.219060104G>T | CA2663194979 | IHH | c.315+49C>A (n.315+49C>A)
| gnomAD v4 |
2 | g.219060104_219060105insCCCG | CA2663194978 | IHH | c.315+49_315+50insGGGC (n.315+49_315+50insGGGC)
| gnomAD v4 |
2 | g.219060110_219060123del | CA2577248557 | IHH | c.315+36_315+49del (n.315+36_315+49del)
| |
2 | g.219060105G>A | CA2663194980 | IHH | c.315+48C>T (n.315+48C>T)
| gnomAD v4 |
2 | g.219060105G>T | CA2663194981 | IHH | c.315+48C>A (n.315+48C>A)
| gnomAD v4 |
2 | g.219060106T>C | CA1329042534 | IHH | c.315+47A>G (n.315+47A>G)
| dbSNP |
2 | g.219060106T= | CA1329042533 | IHH | c.315+47A= (n.315+47A=)
| |
2 | g.219060107G>A | CA2663194982 | IHH | c.315+46C>T (n.315+46C>T)
| gnomAD v4 |
2 | g.219060107G>T | CA2663194983 | IHH | c.315+46C>A (n.315+46C>A)
| gnomAD v4 |
2 | g.219060108G>A | CA1329042536 | IHH | c.315+45C>T (n.315+45C>T)
| dbSNP gnomAD v4 |
2 | g.219060108G= | CA1329042535 | IHH | c.315+45C= (n.315+45C=)
| |
2 | g.219060108G>T | CA539841229 | IHH | c.315+45C>A (n.315+45C>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060109C>A | CA2663194984 | IHH | c.315+44G>T (n.315+44G>T)
| gnomAD v4 |
2 | g.219060109C>T | CA2577248558 | IHH | c.315+44G>A (n.315+44G>A)
| gnomAD v4 |
2 | g.219060110C>A | CA2663194985 | IHH | c.315+43G>T (n.315+43G>T)
| gnomAD v4 |
2 | g.219060110C= | CA1329042538 | IHH | c.315+43G= (n.315+43G=)
| |
2 | g.219060110C>G | CA1329042537 | IHH | c.315+43G>C (n.315+43G>C)
| dbSNP |
2 | g.219060110C>T | CA2116722 | IHH | c.315+43G>A (n.315+43G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060111G>A | CA539841230 | IHH | c.315+42C>T (n.315+42C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060111G= | CA1329042539 | IHH | c.315+42C= (n.315+42C=)
| |
2 | g.219060111G>T | CA2663194986 | IHH | c.315+42C>A (n.315+42C>A)
| gnomAD v4 |
2 | g.219060112T>C | CA1329042541 | IHH | c.315+41A>G (n.315+41A>G)
| dbSNP |
2 | g.219060112T= | CA1329042540 | IHH | c.315+41A= (n.315+41A=)
| |
2 | g.219060113G>A | CA2663194987 | IHH | c.315+40C>T (n.315+40C>T)
| gnomAD v4 |
2 | g.219060113G>T | CA2663194988 | IHH | c.315+40C>A (n.315+40C>A)
| gnomAD v4 |
2 | g.219060114C>A | CA2663194989 | IHH | c.315+39G>T (n.315+39G>T)
| gnomAD v4 |
2 | g.219060114C= | CA1329042542 | IHH | c.315+39G= (n.315+39G=)
| |
2 | g.219060114C>T | CA764945833 | IHH | c.315+39G>A (n.315+39G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060115T>C | CA2577248559 | IHH | c.315+38A>G (n.315+38A>G)
| gnomAD v4 |
2 | g.219060116T>G | CA65951042 | IHH | c.315+37A>C (n.315+37A>C)
| dbSNP gnomAD v4 |
2 | g.219060116T= | CA1329042543 | IHH | c.315+37A= (n.315+37A=)
| |
2 | g.219060117C>A | CA2663194990 | IHH | c.315+36G>T (n.315+36G>T)
| gnomAD v4 |
2 | g.219060117C>T | CA2663194991 | IHH | c.315+36G>A (n.315+36G>A)
| gnomAD v4 |
2 | g.219060118G>A | CA2663194992 | IHH | c.315+35C>T (n.315+35C>T)
| gnomAD v4 |
2 | g.219060118G>C | CA2116723 | IHH | c.315+35C>G (n.315+35C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060118G= | CA1329042544 | IHH | c.315+35C= (n.315+35C=)
| |
2 | g.219060118G>T | CA2663194993 | IHH | c.315+35C>A (n.315+35C>A)
| dbSNP gnomAD v4 |
2 | g.219060119G>A | CA2663194994 | IHH | c.315+34C>T (n.315+34C>T)
| gnomAD v4 |
2 | g.219060119G>T | CA2663194995 | IHH | c.315+34C>A (n.315+34C>A)
| gnomAD v4 |
2 | g.219060120T>C | CA2577248560 | IHH | c.315+33A>G (n.315+33A>G)
| gnomAD v4 |
2 | g.219060121G>A | CA2663194996 | IHH | c.315+32C>T (n.315+32C>T)
| gnomAD v4 |
2 | g.219060121G>T | CA2663194997 | IHH | c.315+32C>A (n.315+32C>A)
| gnomAD v4 |
2 | g.219060122G>T | CA2663194998 | IHH | c.315+31C>A (n.315+31C>A)
| gnomAD v4 |
2 | g.219060123C>A | CA539841231 | IHH | c.315+30G>T (n.315+30G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060123C= | CA1329042545 | IHH | c.315+30G= (n.315+30G=)
| |
2 | g.219060123C>T | CA2116724 | IHH | c.315+30G>A (n.315+30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060124G>A | CA539841232 | IHH | c.315+29C>T (n.315+29C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060124G>C | CA2116725 | IHH | c.315+29C>G (n.315+29C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060124G= | CA1329042546 | IHH | c.315+29C= (n.315+29C=)
| |
2 | g.219060124G>T | CA2663194999 | IHH | c.315+29C>A (n.315+29C>A)
| gnomAD v4 |
2 | g.219060125_219060126insAGG | CA2754315616 | IHH | c.315+29_315+30insTCC (n.315+29_315+30insTCC)
| |
2 | g.219060125G>A | CA539841233 | IHH | c.315+28C>T (n.315+28C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060125G= | CA1329042547 | IHH | c.315+28C= (n.315+28C=)
| |
2 | g.219060125G>T | CA2663195000 | IHH | c.315+28C>A (n.315+28C>A)
| gnomAD v4 |
2 | g.219060126C>A | CA539841234 | IHH | c.315+27G>T (n.315+27G>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060126C= | CA1329042548 | IHH | c.315+27G= (n.315+27G=)
| |
2 | g.219060126C>T | CA2663195001 | IHH | c.315+27G>A (n.315+27G>A)
| gnomAD v4 |
2 | g.219060127G>A | CA539841235 | IHH | c.315+26C>T (n.315+26C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060127G= | CA1329042549 | IHH | c.315+26C= (n.315+26C=)
| |
2 | g.219060127G>T | CA647777319 | IHH | c.315+26C>A (n.315+26C>A)
| gnomAD v4 COSMIC |
2 | g.219060128C= | CA1329042550 | IHH | c.315+25G= (n.315+25G=)
| |
2 | g.219060128C>T | CA2116726 | IHH | c.315+25G>A (n.315+25G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060129G>A | CA2663195002 | IHH | c.315+24C>T (n.315+24C>T)
| gnomAD v4 |
2 | g.219060129G>C | CA2577248561 | IHH | c.315+24C>G (n.315+24C>G)
| |
2 | g.219060129G= | CA1329042551 | IHH | c.315+24C= (n.315+24C=)
| |
2 | g.219060129G>T | CA1042494029 | IHH | c.315+24C>A (n.315+24C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060130C>A | CA1329042553 | IHH | c.315+23G>T (n.315+23G>T)
| dbSNP gnomAD v4 |
2 | g.219060130C= | CA1329042552 | IHH | c.315+23G= (n.315+23G=)
| |
2 | g.219060131T>C | CA2663195003 | IHH | c.315+22A>G (n.315+22A>G)
| gnomAD v4 |
2 | g.219060132G>T | CA2663195004 | IHH | c.315+21C>A (n.315+21C>A)
| gnomAD v4 |
2 | g.219060132_219060133insTCCCCCTC | CA1042494030 | IHH | c.315+20_315+21insGAGGGGGA (n.315+20_315+21insGAGGGGGA)
| gnomAD v3 gnomAD v4 |
2 | g.219060132_219060133insTCCCCCTCGGCGCCTCGACTCT | CA2754315618 | IHH | c.315+20_315+21insAGAGTCGAGGCGCCGAGGGGGA (n.315+20_315+21insAGAGTCGAGGCGCCGAGGGGGA)
| |
2 | g.219060132_219060133insTCCCCCTCGGCGCCTCGACTCTGAGCT | CA2754315619 | IHH | c.315+20_315+21insAGCTCAGAGTCGAGGCGCCGAGGGGGA (n.315+20_315+21insAGCTCAGAGTCGAGGCGCCGAGGGGGA)
| |
2 | g.219060133G>A | CA2663195005 | IHH | c.315+20C>T (n.315+20C>T)
| gnomAD v4 |
2 | g.219060133G>C | CA2577248562 | IHH | c.315+20C>G (n.315+20C>G)
| |
2 | g.219060133G>T | CA2843242325 | IHH | c.315+20C>A (n.315+20C>A)
| |
2 | g.219060133_219060134insGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAA | CA1042494031 | IHH | c.315+19_315+20insTTTATTGGCGGCCGGCGAGCCCGGCAGCTCAGAGTCGAGGCGC (n.315+19_315+20insTTTATTGGCGGCCGGCGAGCCCGGCAGCTCAGAGTCGAGGCGC)
| gnomAD v3 gnomAD v4 |
2 | g.219060134T>C | CA2663195006 | IHH | c.315+19A>G (n.315+19A>G)
| gnomAD v4 |
2 | g.219060134T>G | CA2577248563 | IHH | c.315+19A>C (n.315+19A>C)
| |
2 | g.219060135A>G | CA2663195008 | IHH | c.315+18T>C (n.315+18T>C)
| gnomAD v4 |
2 | g.219060135A>T | CA2843242326 | IHH | c.315+18T>A (n.315+18T>A)
| |
2 | g.219060136G>A | CA1329042555 | IHH | c.315+17C>T (n.315+17C>T)
| ClinVar dbSNP gnomAD v4 |
2 | g.219060136G>C | CA65951068 | IHH | c.315+17C>G (n.315+17C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060136G= | CA1329042554 | IHH | c.315+17C= (n.315+17C=)
| |
2 | g.219060136G>T | CA2663195009 | IHH | c.315+17C>A (n.315+17C>A)
| gnomAD v4 |
2 | g.219060137G>A | CA2116727 | IHH | c.315+16C>T (n.315+16C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060137G= | CA1329042556 | IHH | c.315+16C= (n.315+16C=)
| |
2 | g.219060137G>T | CA2663195010 | IHH | c.315+16C>A (n.315+16C>A)
| gnomAD v4 |
2 | g.219060138G>A | CA2116728 | IHH | c.315+15C>T (n.315+15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060138G= | CA1329042557 | IHH | c.315+15C= (n.315+15C=)
| |
2 | g.219060138G>T | CA2663195011 | IHH | c.315+15C>A (n.315+15C>A)
| gnomAD v4 |
2 | g.219060139C>A | CA2663195012 | IHH | c.315+14G>T (n.315+14G>T)
| gnomAD v4 |
2 | g.219060139C= | CA1329042558 | IHH | c.315+14G= (n.315+14G=)
| |
2 | g.219060139C>T | CA65951108 | IHH | c.315+14G>A (n.315+14G>A)
| dbSNP gnomAD v4 |
2 | g.219060140G>A | CA2116729 | IHH | c.315+13C>T (n.315+13C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060140G= | CA1329042559 | IHH | c.315+13C= (n.315+13C=)
| |
2 | g.219060140G>T | CA2116730 | IHH | c.315+13C>A (n.315+13C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060141G>A | CA2116731 | IHH | c.315+12C>T (n.315+12C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060141G= | CA1329042560 | IHH | c.315+12C= (n.315+12C=)
| |
2 | g.219060142A= | CA1329042561 | IHH | c.315+11T= (n.315+11T=)
| |
2 | g.219060142A>G | CA2577248564 | IHH | c.315+11T>C (n.315+11T>C)
| |
2 | g.219060142A>T | CA65951142 | IHH | c.315+11T>A (n.315+11T>A)
| dbSNP |
2 | g.219060143T>C | CA2663195013 | IHH | c.315+10A>G (n.315+10A>G)
| gnomAD v4 |
2 | g.219060144C>A | CA2116732 | IHH | c.315+9G>T (n.315+9G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060144C= | CA1329042562 | IHH | c.315+9G= (n.315+9G=)
| |
2 | g.219060144C>G | CA2663195014 | IHH | c.315+9G>C (n.315+9G>C)
| gnomAD v4 |
2 | g.219060144C>T | CA2116733 | IHH | c.315+9G>A (n.315+9G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060145G>A | CA2116734 | IHH | c.315+8C>T (n.315+8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060145G>C | CA2581799699 | IHH | c.315+8C>G (n.315+8C>G)
| |
2 | g.219060145G= | CA1329042563 | IHH | c.315+8C= (n.315+8C=)
| |
2 | g.219060145G>T | CA2581799700 | IHH | c.315+8C>A (n.315+8C>A)
| gnomAD v4 |
2 | g.219060146C>A | CA2663195015 | IHH | c.315+7G>T (n.315+7G>T)
| gnomAD v4 |
2 | g.219060146C= | CA1329042564 | IHH | c.315+7G= (n.315+7G=)
| |
2 | g.219060146C>T | CA2116735 | IHH | c.315+7G>A (n.315+7G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060147G>A | CA2116736 | IHH | c.315+6C>T (n.315+6C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060147G>C | CA2663195016 | IHH | c.315+6C>G (n.315+6C>G)
| gnomAD v4 |
2 | g.219060147G= | CA1329042565 | IHH | c.315+6C= (n.315+6C=)
| |
2 | g.219060147G>T | CA2663195017 | IHH | c.315+6C>A (n.315+6C>A)
| gnomAD v4 |
2 | g.219060148C>A | CA2663195018 | IHH | c.315+5G>T (n.315+5G>T)
| gnomAD v4 |
2 | g.219060148C>T | CA2663195019 | IHH | c.315+5G>A (n.315+5G>A)
| gnomAD v4 |
2 | g.219060150C>A | CA2663195020 | IHH | c.315+3G>T (n.315+3G>T)
| gnomAD v4 |
2 | g.219060150C>T | CA2663195021 | IHH | c.315+3G>A (n.315+3G>A)
| gnomAD v4 |
2 | g.219060151A>C | CA350636602 | IHH | c.315+2T>G (n.315+2T>G)
| |
2 | g.219060151A>G | CA350636604 | IHH | c.315+2T>C (n.315+2T>C)
| |
2 | g.219060151A>T | CA350636603 | IHH | c.315+2T>A (n.315+2T>A)
| |
2 | g.219060152C>A | CA350636605 | IHH | c.315+1G>T (n.315+1G>T)
| |
2 | g.219060152C>G | CA350636607 | IHH | c.315+1G>C (n.315+1G>C)
| |
2 | g.219060152C>T | CA350636606 | IHH | c.315+1G>A (n.315+1G>A)
| |
2 | g.219060153C>A | CA350636608 | IHH | c.315G>T (p.Gln105His)
| gnomAD v4 |
2 | g.219060153C= | CA1329042566 | IHH | c.315G= (p.Gln105=)
| |
2 | g.219060153C>G | CA350636609 | IHH | c.315G>C (p.Gln105His)
| |
2 | g.219060153C>T | CA431419725 | IHH | c.315G>A (p.Gln105=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060154T>A | CA350636610 | IHH | c.314A>T (p.Gln105Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060154T>C | CA350636611 | IHH | c.314A>G (p.Gln105Arg)
| ClinVar |
2 | g.219060154T>G | CA350636612 | IHH | c.314A>C (p.Gln105Pro)
| |
2 | g.219060154T= | CA1329042567 | IHH | c.314A= (p.Gln105=)
| |
2 | g.219060155G>A | CA350636613 | IHH | c.313C>T (p.Gln105Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060155G>C | CA350636614 | IHH | c.313C>G (p.Gln105Glu)
| |
2 | g.219060155G= | CA1329042568 | IHH | c.313C= (p.Gln105=)
| |
2 | g.219060155G>T | CA350636615 | IHH | c.313C>A (p.Gln105Lys)
| gnomAD v4 |
2 | g.219060157del | CA2843242327 | IHH | c.313del (p.Gln105SerfsTer7)
| |
2 | g.219060156G>A | CA431419733 | IHH | c.312C>T (p.Thr104=)
| |
2 | g.219060156G>C | CA431419734 | IHH | c.312C>G (p.Thr104=)
| gnomAD v4 |
2 | g.219060156G>T | CA431419735 | IHH | c.312C>A (p.Thr104=)
| |
2 | g.219060157G>A | CA350636616 | IHH | c.311C>T (p.Thr104Ile)
| |
2 | g.219060157G>C | CA350636617 | IHH | c.311C>G (p.Thr104Ser)
| |
2 | g.219060157G>T | CA350636618 | IHH | c.311C>A (p.Thr104Asn)
| gnomAD v4 |
2 | g.219060158T>A | CA350636619 | IHH | c.310A>T (p.Thr104Ser)
| |
2 | g.219060158T>C | CA350636620 | IHH | c.310A>G (p.Thr104Ala)
| |
2 | g.219060158T>G | CA350636621 | IHH | c.310A>C (p.Thr104Pro)
| |
2 | g.219060159C>A | CA350636624 | IHH | c.309G>T (p.Met103Ile)
| |
2 | g.219060159C>G | CA350636622 | IHH | c.309G>C (p.Met103Ile)
| |
2 | g.219060159C>T | CA350636623 | IHH | c.309G>A (p.Met103Ile)
| |
2 | g.219060160A= | CA1329042569 | IHH | c.308T= (p.Met103=)
| |
2 | g.219060160A>C | CA350636625 | IHH | c.308T>G (p.Met103Arg)
| ClinVar dbSNP gnomAD v4 |
2 | g.219060160A>G | CA350636626 | IHH | c.308T>C (p.Met103Thr)
| |
2 | g.219060160A>T | CA350636627 | IHH | c.308T>A (p.Met103Lys)
| |
2 | g.219060161T>A | CA350636628 | IHH | c.307A>T (p.Met103Leu)
| |
2 | g.219060161T>C | CA350636629 | IHH | c.307A>G (p.Met103Val)
| |
2 | g.219060161T>G | CA350636630 | IHH | c.307A>C (p.Met103Leu)
| gnomAD v4 |
2 | g.219060162G>A | CA431419748 | IHH | c.306C>T (p.Leu102=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060162G>C | CA431419750 | IHH | c.306C>G (p.Leu102=)
| |
2 | g.219060162G= | CA1329042570 | IHH | c.306C= (p.Leu102=)
| |
2 | g.219060162G>T | CA431419752 | IHH | c.306C>A (p.Leu102=)
| |
2 | g.219060163_219060164del | CA2754315625 | IHH | c.305_306del (p.Leu102HisfsTer?)
| |
2 | g.219060163A>C | CA350636631 | IHH | c.305T>G (p.Leu102Arg)
| |
2 | g.219060163A>G | CA350636632 | IHH | c.305T>C (p.Leu102Pro)
| gnomAD v4 |
2 | g.219060163A>T | CA350636633 | IHH | c.305T>A (p.Leu102His)
| |
2 | g.219060164G>A | CA350636634 | IHH | c.304C>T (p.Leu102Phe)
| |
2 | g.219060164G>C | CA350636635 | IHH | c.304C>G (p.Leu102Val)
| |
2 | g.219060164G>T | CA350636636 | IHH | c.304C>A (p.Leu102Ile)
| gnomAD v4 |
2 | g.219060165G>A | CA2116737 | IHH | c.303C>T (p.Arg101=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060165G>C | CA431419758 | IHH | c.303C>G (p.Arg101=)
| |
2 | g.219060165G= | CA1329042571 | IHH | c.303C= (p.Arg101=)
| |
2 | g.219060165G>T | CA431419761 | IHH | c.303C>A (p.Arg101=)
| |
2 | g.219060166C>A | CA350636639 | IHH | c.302G>T (p.Arg101Leu)
| gnomAD v4 |
2 | g.219060166C>G | CA350636637 | IHH | c.302G>C (p.Arg101Pro)
| |
2 | g.219060166C>T | CA350636638 | IHH | c.302G>A (p.Arg101His)
| gnomAD v4 |
2 | g.219060167G>A | CA350636640 | IHH | c.301C>T (p.Arg101Cys)
| |
2 | g.219060167G>C | CA350636642 | IHH | c.301C>G (p.Arg101Gly)
| ClinVar dbSNP |
2 | g.219060167G= | CA1329042572 | IHH | c.301C= (p.Arg101=)
| |
2 | g.219060167G>T | CA350636643 | IHH | c.301C>A (p.Arg101Ser)
| ClinVar dbSNP gnomAD v4 |
2 | g.219060168G>A | CA431419769 | IHH | c.300C>T (p.Asp100=)
| gnomAD v4 |
2 | g.219060168G>C | CA350636645 | IHH | c.300C>G (p.Asp100Glu)
| |
2 | g.219060168G= | CA1329042573 | IHH | c.300C= (p.Asp100=)
| |
2 | g.219060168G>T | CA119975 | IHH | c.300C>A (p.Asp100Glu)
| ClinVar dbSNP |
2 | g.219060169T>A | CA350636647 | IHH | c.299A>T (p.Asp100Val)
| |
2 | g.219060169T>C | CA350636648 | IHH | c.299A>G (p.Asp100Gly)
| |
2 | g.219060169T>G | CA350636650 | IHH | c.299A>C (p.Asp100Ala)
| |
2 | g.219060170C>A | CA350636651 | IHH | c.298G>T (p.Asp100Tyr)
| gnomAD v4 |
2 | g.219060170C= | CA1329042574 | IHH | c.298G= (p.Asp100=)
| |
2 | g.219060170C>G | CA350636653 | IHH | c.298G>C (p.Asp100His)
| dbSNP |
2 | g.219060170C>T | CA119976 | IHH | c.298G>A (p.Asp100Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060171G>A | CA2116738 | IHH | c.297C>T (p.Ala99=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060171G>C | CA431419784 | IHH | c.297C>G (p.Ala99=)
| |
2 | g.219060171G= | CA1329042575 | IHH | c.297C= (p.Ala99=)
| |
2 | g.219060171G>T | CA431419787 | IHH | c.297C>A (p.Ala99=)
| |
2 | g.219060172G>A | CA350636655 | IHH | c.296C>T (p.Ala99Val)
| |
2 | g.219060172G>C | CA350636656 | IHH | c.296C>G (p.Ala99Gly)
| |
2 | g.219060172G>T | CA350636658 | IHH | c.296C>A (p.Ala99Asp)
| |
2 | g.219060173C>A | CA2116739 | IHH | c.295G>T (p.Ala99Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060173C= | CA1329042576 | IHH | c.295G= (p.Ala99=)
| |
2 | g.219060173C>G | CA350636661 | IHH | c.295G>C (p.Ala99Pro)
| |
2 | g.219060173C>T | CA2116740 | IHH | c.295G>A (p.Ala99Thr)
| dbSNP ExAC gnomAD v2 |
2 | g.219060174G>A | CA431419800 | IHH | c.294C>T (p.Gly98=)
| |
2 | g.219060174G>C | CA431419801 | IHH | c.294C>G (p.Gly98=)
| |
2 | g.219060174G= | CA1329042577 | IHH | c.294C= (p.Gly98=)
| |
2 | g.219060174G>T | CA431419803 | IHH | c.294C>A (p.Gly98=)
| dbSNP gnomAD v2 |
2 | g.219060175C>A | CA350636663 | IHH | c.293G>T (p.Gly98Val)
| |
2 | g.219060175C>G | CA350636664 | IHH | c.293G>C (p.Gly98Ala)
| |
2 | g.219060175C>T | CA350636666 | IHH | c.293G>A (p.Gly98Asp)
| gnomAD v4 |
2 | g.219060176C>A | CA350636668 | IHH | c.292G>T (p.Gly98Cys)
| |
2 | g.219060176C>G | CA350636669 | IHH | c.292G>C (p.Gly98Arg)
| |
2 | g.219060176C>T | CA350636670 | IHH | c.292G>A (p.Gly98Ser)
| |
2 | g.219060177T>A | CA431419808 | IHH | c.291A>T (p.Thr97=)
| |
2 | g.219060177T>C | CA431419810 | IHH | c.291A>G (p.Thr97=)
| gnomAD v4 |
2 | g.219060177T>G | CA431419812 | IHH | c.291A>C (p.Thr97=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060177T= | CA1329042578 | IHH | c.291A= (p.Thr97=)
| |
2 | g.219060178G>A | CA350636675 | IHH | c.290C>T (p.Thr97Ile)
| |
2 | g.219060178G>C | CA350636673 | IHH | c.290C>G (p.Thr97Arg)
| |
2 | g.219060178G>T | CA350636672 | IHH | c.290C>A (p.Thr97Lys)
| |
2 | g.219060179T>A | CA350636676 | IHH | c.289A>T (p.Thr97Ser)
| |
2 | g.219060179T>C | CA350636679 | IHH | c.289A>G (p.Thr97Ala)
| |
2 | g.219060179T>G | CA350636677 | IHH | c.289A>C (p.Thr97Pro)
| |
2 | g.219060180G>A | CA431419829 | IHH | c.288C>T (p.Asn96=)
| |
2 | g.219060180G>C | CA350636681 | IHH | c.288C>G (p.Asn96Lys)
| |
2 | g.219060180G= | CA1329042579 | IHH | c.288C= (p.Asn96=)
| |
2 | g.219060180G>T | CA350636682 | IHH | c.288C>A (p.Asn96Lys)
| dbSNP gnomAD v4 |
2 | g.219060181T>A | CA65951203 | IHH | c.287A>T (p.Asn96Ile)
| dbSNP gnomAD v4 |
2 | g.219060181T>C | CA350636685 | IHH | c.287A>G (p.Asn96Ser)
| gnomAD v4 |
2 | g.219060181T>G | CA350636687 | IHH | c.287A>C (p.Asn96Thr)
| |
2 | g.219060181T= | CA1329042580 | IHH | c.287A= (p.Asn96=)
| |
2 | g.219060182_219060184dup | CA2586971360 | IHH | c.285_287dup (p.Glu95_Asn96insLys)
| |
2 | g.219060182T>A | CA350636688 | IHH | c.286A>T (p.Asn96Tyr)
| |
2 | g.219060182T>C | CA350636689 | IHH | c.286A>G (p.Asn96Asp)
| |
2 | g.219060182T>G | CA350636691 | IHH | c.286A>C (p.Asn96His)
| |
2 | g.219060182_219060185delinsTCTC | CA1329042581 | IHH | c.283_286delinsGAGA (p.Glu95=)
| |
2 | g.219060183C>A | CA350636693 | IHH | c.285G>T (p.Glu95Asp)
| |
2 | g.219060183C= | CA1329042582 | IHH | c.285G= (p.Glu95=)
| |
2 | g.219060183C>G | CA350636695 | IHH | c.285G>C (p.Glu95Asp)
| |
2 | g.219060183C>T | CA431419840 | IHH | c.285G>A (p.Glu95=)
| dbSNP COSMIC |
2 | g.219060186_219060188del | CA1139657700 | IHH | c.283_285del (p.Glu95del)
| ClinVar dbSNP gnomAD v4 |
2 | g.219060184T>A | CA350636696 | IHH | c.284A>T (p.Glu95Val)
| |
2 | g.219060184T>C | CA119979 | IHH | c.284A>G (p.Glu95Gly)
| ClinVar dbSNP |
2 | g.219060184T>G | CA350636699 | IHH | c.284A>C (p.Glu95Ala)
| |
2 | g.219060184T= | CA1329042583 | IHH | c.284A= (p.Glu95=)
| |
2 | g.219060185C>A | CA350636701 | IHH | c.283G>T (p.Glu95Ter)
| |
2 | g.219060185C= | CA1329042584 | IHH | c.283G= (p.Glu95=)
| |
2 | g.219060185C>G | CA350636703 | IHH | c.283G>C (p.Glu95Gln)
| |
2 | g.219060185C>T | CA119973 | IHH | c.283G>A (p.Glu95Lys)
| ClinVar dbSNP |
2 | g.219060186C>A | CA350636705 | IHH | c.282G>T (p.Glu94Asp)
| |
2 | g.219060186C= | CA1329042585 | IHH | c.282G= (p.Glu94=)
| |
2 | g.219060186C>G | CA350636707 | IHH | c.282G>C (p.Glu94Asp)
| |
2 | g.219060186C>T | CA431419845 | IHH | c.282G>A (p.Glu94=)
| dbSNP gnomAD v2 gnomAD v4 |