UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261517G>A | CA1397872805 | CASR | c.493-11G>A (n.493-11G>A) c.10-11G>A (n.10-11G>A) c.-96-11G>A (n.-96-11G>A) | dbSNP |
| 3 | g.122261517G>C | CA2569497 | CASR | c.493-11G>C (n.493-11G>C) c.10-11G>C (n.10-11G>C) c.-96-11G>C (n.-96-11G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261517G= | CA1397872804 | CASR | c.493-11G= (n.493-11G=) c.10-11G= (n.10-11G=) c.-96-11G= (n.-96-11G=) | |
| 3 | g.122261517G>T | CA545962736 | CASR | c.493-11G>T (n.493-11G>T) c.10-11G>T (n.10-11G>T) c.-96-11G>T (n.-96-11G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261518T>A | CA2667224700 | CASR | c.493-10T>A (n.493-10T>A) c.10-10T>A (n.10-10T>A) c.-96-10T>A (n.-96-10T>A) | gnomAD v4 |
| 3 | g.122261518T>C | CA2580068624 | CASR | c.493-10T>C (n.493-10T>C) c.10-10T>C (n.10-10T>C) c.-96-10T>C (n.-96-10T>C) | ClinVar |
| 3 | g.122261520C>A | CA2667224701 | CASR | c.493-8C>A (n.493-8C>A) c.10-8C>A (n.10-8C>A) c.-96-8C>A (n.-96-8C>A) | gnomAD v4 |
| 3 | g.122261522C= | CA1397872807 | CASR | c.493-6C= (n.493-6C=) c.10-6C= (n.10-6C=) c.-96-6C= (n.-96-6C=) | |
| 3 | g.122261522C>T | CA1052937809 | CASR | c.493-6C>T (n.493-6C>T) c.10-6C>T (n.10-6C>T) c.-96-6C>T (n.-96-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261523T>C | CA1052937811 | CASR | c.493-5T>C (n.493-5T>C) c.10-5T>C (n.10-5T>C) c.-96-5T>C (n.-96-5T>C) | dbSNP gnomAD v4 |
| 3 | g.122261523T= | CA1397872809 | CASR | c.493-5T= (n.493-5T=) c.10-5T= (n.10-5T=) c.-96-5T= (n.-96-5T=) | |
| 3 | g.122261524C>T | CA2499216405 | CASR | c.493-4C>T (n.493-4C>T) c.10-4C>T (n.10-4C>T) c.-96-4C>T (n.-96-4C>T) | ClinVar dbSNP |
| 3 | g.122261528_122261532del | CA2586972799 | CASR | c.493_497del c.10_14del c.-96_-92del | |
| 3 | g.122261526A= | CA1397872811 | CASR | c.493-2A= (n.493-2A=) c.10-2A= (n.10-2A=) c.-96-2A= (n.-96-2A=) | |
| 3 | g.122261526A>C | CA354150700 | CASR | c.493-2A>C (n.493-2A>C) c.10-2A>C (n.10-2A>C) c.-96-2A>C (n.-96-2A>C) | ClinVar dbSNP |
| 3 | g.122261526A>G | CA354150701 | CASR | c.493-2A>G (n.493-2A>G) c.10-2A>G (n.10-2A>G) c.-96-2A>G (n.-96-2A>G) | ClinVar dbSNP |
| 3 | g.122261526A>T | CA354150702 | CASR | c.493-2A>T (n.493-2A>T) c.10-2A>T (n.10-2A>T) c.-96-2A>T (n.-96-2A>T) | |
| 3 | g.122261527G>A | CA2569498 | CASR | c.493-1G>A (n.493-1G>A) c.10-1G>A (n.10-1G>A) c.-96-1G>A (n.-96-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261527G>C | CA354150704 | CASR | c.493-1G>C (n.493-1G>C) c.10-1G>C (n.10-1G>C) c.-96-1G>C (n.-96-1G>C) | |
| 3 | g.122261527G= | CA1397872813 | CASR | c.493-1G= (n.493-1G=) c.10-1G= (n.10-1G=) c.-96-1G= (n.-96-1G=) | |
| 3 | g.122261527G>T | CA354150703 | CASR | c.493-1G>T (n.493-1G>T) c.10-1G>T (n.10-1G>T) c.-96-1G>T (n.-96-1G>T) | |
| 3 | g.122261528G>A | CA354150705 | CASR | c.493G>A (p.Val165Ile) c.10G>A (p.Val4Ile) c.-96G>A (n.-96G>A) | ClinVar dbSNP |
| 3 | g.122261528G>C | CA354150706 | CASR | c.493G>C (p.Val165Leu) c.10G>C (p.Val4Leu) c.-96G>C (n.-96G>C) | |
| 3 | g.122261528G= | CA1397872814 | CASR | c.493G= (p.Val165=) c.10G= (p.Val4=) c.-96G= (n.-96G=) | |
| 3 | g.122261528G>T | CA354150707 | CASR | c.493G>T (p.Val165Phe) c.10G>T (p.Val4Phe) c.-96G>T (n.-96G>T) | |
| 3 | g.122261529T>A | CA354150708 | CASR | c.494T>A (p.Val165Asp) c.11T>A (p.Val4Asp) c.-95T>A (n.-95T>A) | |
| 3 | g.122261529T>C | CA354150709 | CASR | c.494T>C (p.Val165Ala) c.11T>C (p.Val4Ala) c.-95T>C (n.-95T>C) | |
| 3 | g.122261529T>G | CA354150710 | CASR | c.494T>G (p.Val165Gly) c.11T>G (p.Val4Gly) c.-95T>G (n.-95T>G) | ClinVar dbSNP |
| 3 | g.122261529T= | CA1397872815 | CASR | c.494T= (p.Val165=) c.11T= (p.Val4=) c.-95T= (n.-95T=) | |
| 3 | g.122261530C>A | CA435424256 | CASR | c.495C>A (p.Val165=) c.12C>A (p.Val4=) c.-94C>A (n.-94C>A) | gnomAD v4 |
| 3 | g.122261530C>G | CA435424257 | CASR | c.495C>G (p.Val165=) c.12C>G (p.Val4=) c.-94C>G (n.-94C>G) | |
| 3 | g.122261530C>T | CA435424258 | CASR | c.495C>T (p.Val165=) c.12C>T (p.Val4=) c.-94C>T (n.-94C>T) | ClinVar |
| 3 | g.122261531A= | CA1397872817 | CASR | c.496A= (p.Ser166=) c.13A= (p.Ser5=) c.-93A= (n.-93A=) | |
| 3 | g.122261531A>C | CA354150711 | CASR | c.496A>C (p.Ser166Arg) c.13A>C (p.Ser5Arg) c.-93A>C (n.-93A>C) | ClinVar dbSNP |
| 3 | g.122261531A>G | CA213601 | CASR | c.496A>G (p.Ser166Gly) c.13A>G (p.Ser5Gly) c.-93A>G (n.-93A>G) | ClinVar dbSNP |
| 3 | g.122261531A>T | CA354150712 | CASR | c.496A>T (p.Ser166Cys) c.13A>T (p.Ser5Cys) c.-93A>T (n.-93A>T) | |
| 3 | g.122261532G>A | CA354150713 | CASR | c.497G>A (p.Ser166Asn) c.14G>A (p.Ser5Asn) c.-92G>A (n.-92G>A) | ClinVar |
| 3 | g.122261532G>C | CA354150714 | CASR | c.497G>C (p.Ser166Thr) c.14G>C (p.Ser5Thr) c.-92G>C (n.-92G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261532G= | CA1397872819 | CASR | c.497G= (p.Ser166=) c.14G= (p.Ser5=) c.-92G= (n.-92G=) | |
| 3 | g.122261532G>T | CA354150715 | CASR | c.497G>T (p.Ser166Ile) c.14G>T (p.Ser5Ile) c.-92G>T (n.-92G>T) | |
| 3 | g.122261533T>A | CA354150716 | CASR | c.498T>A (p.Ser166Arg) c.15T>A (p.Ser5Arg) c.-91T>A (n.-91T>A) | |
| 3 | g.122261533T>C | CA435424259 | CASR | c.498T>C (p.Ser166=) c.15T>C (p.Ser5=) c.-91T>C (n.-91T>C) | gnomAD v4 |
| 3 | g.122261533T>G | CA354150717 | CASR | c.498T>G (p.Ser166Arg) c.15T>G (p.Ser5Arg) c.-91T>G (n.-91T>G) | |
| 3 | g.122261534T>A | CA16617812 | CASR | c.499T>A (p.Tyr167Asn) c.16T>A (p.Tyr6Asn) c.-90T>A (n.-90T>A) | ClinVar dbSNP |
| 3 | g.122261534T>C | CA354150718 | CASR | c.499T>C (p.Tyr167His) c.16T>C (p.Tyr6His) c.-90T>C (n.-90T>C) | |
| 3 | g.122261534T>G | CA354150719 | CASR | c.499T>G (p.Tyr167Asp) c.16T>G (p.Tyr6Asp) c.-90T>G (n.-90T>G) | ClinVar dbSNP |
| 3 | g.122261534T= | CA1397872820 | CASR | c.499T= (p.Tyr167=) c.16T= (p.Tyr6=) c.-90T= (n.-90T=) | |
| 3 | g.122261535A>C | CA354150720 | CASR | c.500A>C (p.Tyr167Ser) c.17A>C (p.Tyr6Ser) c.-89A>C (n.-89A>C) | |
| 3 | g.122261535A>G | CA354150721 | CASR | c.500A>G (p.Tyr167Cys) c.17A>G (p.Tyr6Cys) c.-89A>G (n.-89A>G) | |
| 3 | g.122261535A>T | CA354150722 | CASR | c.500A>T (p.Tyr167Phe) c.17A>T (p.Tyr6Phe) c.-89A>T (n.-89A>T) | |
| 3 | g.122261536T>A | CA354150724 | CASR | c.501T>A (p.Tyr167Ter) c.18T>A (p.Tyr6Ter) c.-88T>A (n.-88T>A) | ClinVar dbSNP |
| 3 | g.122261536T>C | CA216138 | CASR | c.501T>C (p.Tyr167=) c.18T>C (p.Tyr6=) c.-88T>C (n.-88T>C) | ClinVar dbSNP |
| 3 | g.122261536T>G | CA354150723 | CASR | c.501T>G (p.Tyr167Ter) c.18T>G (p.Tyr6Ter) c.-88T>G (n.-88T>G) | |
| 3 | g.122261536T= | CA1397872822 | CASR | c.501T= (p.Tyr167=) c.18T= (p.Tyr6=) c.-88T= (n.-88T=) | |
| 3 | g.122261537G>A | CA354150727 | CASR | c.502G>A (p.Ala168Thr) c.19G>A (p.Ala7Thr) c.-87G>A (n.-87G>A) | |
| 3 | g.122261537G>C | CA354150725 | CASR | c.502G>C (p.Ala168Pro) c.19G>C (p.Ala7Pro) c.-87G>C (n.-87G>C) | |
| 3 | g.122261537G= | CA1397872824 | CASR | c.502G= (p.Ala168=) c.19G= (p.Ala7=) c.-87G= (n.-87G=) | |
| 3 | g.122261537G>T | CA354150726 | CASR | c.502G>T (p.Ala168Ser) c.19G>T (p.Ala7Ser) c.-87G>T (n.-87G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261538C>A | CA354150728 | CASR | c.503C>A (p.Ala168Asp) c.20C>A (p.Ala7Asp) c.-86C>A (n.-86C>A) | ClinVar dbSNP |
| 3 | g.122261538C= | CA1397872826 | CASR | c.503C= (p.Ala168=) c.20C= (p.Ala7=) c.-86C= (n.-86C=) | |
| 3 | g.122261538C>G | CA354150729 | CASR | c.503C>G (p.Ala168Gly) c.20C>G (p.Ala7Gly) c.-86C>G (n.-86C>G) | |
| 3 | g.122261538C>T | CA354150730 | CASR | c.503C>T (p.Ala168Val) c.20C>T (p.Ala7Val) c.-86C>T (n.-86C>T) | ClinVar dbSNP |
| 3 | g.122261539C>A | CA435424260 | CASR | c.504C>A (p.Ala168=) c.21C>A (p.Ala7=) c.-85C>A (n.-85C>A) | |
| 3 | g.122261539C>G | CA435424261 | CASR | c.504C>G (p.Ala168=) c.21C>G (p.Ala7=) c.-85C>G (n.-85C>G) | |
| 3 | g.122261539C>T | CA435424262 | CASR | c.504C>T (p.Ala168=) c.21C>T (p.Ala7=) c.-85C>T (n.-85C>T) | |
| 3 | g.122261540T>A | CA354150733 | CASR | c.505T>A (p.Ser169Thr) c.22T>A (p.Ser8Thr) c.-84T>A (n.-84T>A) | |
| 3 | g.122261540T>C | CA354150732 | CASR | c.505T>C (p.Ser169Pro) c.22T>C (p.Ser8Pro) c.-84T>C (n.-84T>C) | ClinVar dbSNP |
| 3 | g.122261540T>G | CA354150731 | CASR | c.505T>G (p.Ser169Ala) c.22T>G (p.Ser8Ala) c.-84T>G (n.-84T>G) | |
| 3 | g.122261540T= | CA1397872828 | CASR | c.505T= (p.Ser169=) c.22T= (p.Ser8=) c.-84T= (n.-84T=) | |
| 3 | g.122261541C>A | CA354150734 | CASR | c.506C>A (p.Ser169Tyr) c.23C>A (p.Ser8Tyr) c.-83C>A (n.-83C>A) | |
| 3 | g.122261541C>G | CA354150735 | CASR | c.506C>G (p.Ser169Cys) c.23C>G (p.Ser8Cys) c.-83C>G (n.-83C>G) | |
| 3 | g.122261541C>T | CA354150736 | CASR | c.506C>T (p.Ser169Phe) c.23C>T (p.Ser8Phe) c.-83C>T (n.-83C>T) | COSMIC |
| 3 | g.122261542C>A | CA435424263 | CASR | c.507C>A (p.Ser169=) c.24C>A (p.Ser8=) c.-82C>A (n.-82C>A) | |
| 3 | g.122261542C>G | CA435424264 | CASR | c.507C>G (p.Ser169=) c.24C>G (p.Ser8=) c.-82C>G (n.-82C>G) | ClinVar dbSNP |
| 3 | g.122261542C>T | CA435424266 | CASR | c.507C>T (p.Ser169=) c.24C>T (p.Ser8=) c.-82C>T (n.-82C>T) | ClinVar dbSNP |
| 3 | g.122261543T>A | CA354150737 | CASR | c.508T>A (p.Ser170Thr) c.25T>A (p.Ser9Thr) c.-81T>A (n.-81T>A) | |
| 3 | g.122261543T>C | CA16611081 | CASR | c.508T>C (p.Ser170Pro) c.25T>C (p.Ser9Pro) c.-81T>C (n.-81T>C) | ClinVar dbSNP |
| 3 | g.122261543T>G | CA354150738 | CASR | c.508T>G (p.Ser170Ala) c.25T>G (p.Ser9Ala) c.-81T>G (n.-81T>G) | |
| 3 | g.122261543T= | CA1397872829 | CASR | c.508T= (p.Ser170=) c.25T= (p.Ser9=) c.-81T= (n.-81T=) | |
| 3 | g.122261544C>A | CA354150739 | CASR | c.509C>A (p.Ser170Tyr) c.26C>A (p.Ser9Tyr) c.-80C>A (n.-80C>A) | |
| 3 | g.122261544C>G | CA354150741 | CASR | c.509C>G (p.Ser170Cys) c.26C>G (p.Ser9Cys) c.-80C>G (n.-80C>G) | ClinVar |
| 3 | g.122261544C>T | CA354150740 | CASR | c.509C>T (p.Ser170Phe) c.26C>T (p.Ser9Phe) c.-80C>T (n.-80C>T) | |
| 3 | g.122261545C>A | CA435424270 | CASR | c.510C>A (p.Ser170=) c.27C>A (p.Ser9=) c.-79C>A (n.-79C>A) | gnomAD v4 |
| 3 | g.122261545C>G | CA435424268 | CASR | c.510C>G (p.Ser170=) c.27C>G (p.Ser9=) c.-79C>G (n.-79C>G) | |
| 3 | g.122261545C>T | CA435424269 | CASR | c.510C>T (p.Ser170=) c.27C>T (p.Ser9=) c.-79C>T (n.-79C>T) | gnomAD v4 |
| 3 | g.122261546A>C | CA354150742 | CASR | c.511A>C (p.Ser171Arg) c.28A>C (p.Ser10Arg) c.-78A>C (n.-78A>C) | |
| 3 | g.122261546A>G | CA354150743 | CASR | c.511A>G (p.Ser171Gly) c.28A>G (p.Ser10Gly) c.-78A>G (n.-78A>G) | ClinVar COSMIC |
| 3 | g.122261546A>T | CA354150744 | CASR | c.511A>T (p.Ser171Cys) c.28A>T (p.Ser10Cys) c.-78A>T (n.-78A>T) | |
| 3 | g.122261547G>A | CA354150745 | CASR | c.512G>A (p.Ser171Asn) c.29G>A (p.Ser10Asn) c.-77G>A (n.-77G>A) | |
| 3 | g.122261547G>C | CA354150746 | CASR | c.512G>C (p.Ser171Thr) c.29G>C (p.Ser10Thr) c.-77G>C (n.-77G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261547G= | CA1397872832 | CASR | c.512G= (p.Ser171=) c.29G= (p.Ser10=) c.-77G= (n.-77G=) | |
| 3 | g.122261547G>T | CA354150747 | CASR | c.512G>T (p.Ser171Ile) c.29G>T (p.Ser10Ile) c.-77G>T (n.-77G>T) | |
| 3 | g.122261548C>A | CA16611107 | CASR | c.513C>A (p.Ser171Arg) c.30C>A (p.Ser10Arg) c.-76C>A (n.-76C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261548C= | CA1397872834 | CASR | c.513C= (p.Ser171=) c.30C= (p.Ser10=) c.-76C= (n.-76C=) | |
| 3 | g.122261548C>G | CA354150748 | CASR | c.513C>G (p.Ser171Arg) c.30C>G (p.Ser10Arg) c.-76C>G (n.-76C>G) | |
| 3 | g.122261548C>T | CA2569499 | CASR | c.513C>T (p.Ser171=) c.30C>T (p.Ser10=) c.-76C>T (n.-76C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261549A= | CA1397872837 | CASR | c.514A= (p.Arg172=) c.31A= (p.Arg11=) c.-75A= (n.-75A=) | |
| 3 | g.122261549A>C | CA16611110 | CASR | c.514A>C (p.Arg172=) c.31A>C (p.Arg11=) c.-75A>C (n.-75A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261549A>G | CA16604425 | CASR | c.514A>G (p.Arg172Gly) c.31A>G (p.Arg11Gly) c.-75A>G (n.-75A>G) | ClinVar dbSNP |
| 3 | g.122261549A>T | CA354150749 | CASR | c.514A>T (p.Arg172Ter) c.31A>T (p.Arg11Ter) c.-75A>T (n.-75A>T) | |
| 3 | g.122261550G>A | CA354150751 | CASR | c.515G>A (p.Arg172Lys) c.32G>A (p.Arg11Lys) c.-74G>A (n.-74G>A) | COSMIC |
| 3 | g.122261550G>C | CA354150752 | CASR | c.515G>C (p.Arg172Thr) c.32G>C (p.Arg11Thr) c.-74G>C (n.-74G>C) | |
| 3 | g.122261550G>T | CA354150750 | CASR | c.515G>T (p.Arg172Ile) c.32G>T (p.Arg11Ile) c.-74G>T (n.-74G>T) | |
| 3 | g.122261551A= | CA1397872840 | CASR | c.516A= (p.Arg172=) c.33A= (p.Arg11=) c.-73A= (n.-73A=) | |
| 3 | g.122261551A>C | CA354150753 | CASR | c.516A>C (p.Arg172Ser) c.33A>C (p.Arg11Ser) c.-73A>C (n.-73A>C) | |
| 3 | g.122261551A>G | CA435424275 | CASR | c.516A>G (p.Arg172=) c.33A>G (p.Arg11=) c.-73A>G (n.-73A>G) | |
| 3 | g.122261551A>T | CA354150754 | CASR | c.516A>T (p.Arg172Ser) c.33A>T (p.Arg11Ser) c.-73A>T (n.-73A>T) | ClinVar dbSNP |
| 3 | g.122261552C>A | CA354150755 | CASR | c.517C>A (p.Leu173Ile) c.34C>A (p.Leu12Ile) c.-72C>A (n.-72C>A) | |
| 3 | g.122261552C>G | CA354150756 | CASR | c.517C>G (p.Leu173Val) c.34C>G (p.Leu12Val) c.-72C>G (n.-72C>G) | |
| 3 | g.122261552C>T | CA354150757 | CASR | c.517C>T (p.Leu173Phe) c.34C>T (p.Leu12Phe) c.-72C>T (n.-72C>T) | ClinVar |
| 3 | g.122261553T>A | CA354150758 | CASR | c.518T>A (p.Leu173His) c.35T>A (p.Leu12His) c.-71T>A (n.-71T>A) | ClinVar |
| 3 | g.122261553T>C | CA354150759 | CASR | c.518T>C (p.Leu173Pro) c.35T>C (p.Leu12Pro) c.-71T>C (n.-71T>C) | ClinVar dbSNP |
| 3 | g.122261553T>G | CA354150760 | CASR | c.518T>G (p.Leu173Arg) c.35T>G (p.Leu12Arg) c.-71T>G (n.-71T>G) | |
| 3 | g.122261554C>A | CA435424276 | CASR | c.519C>A (p.Leu173=) c.36C>A (p.Leu12=) c.-70C>A (n.-70C>A) | |
| 3 | g.122261554C>G | CA435424277 | CASR | c.519C>G (p.Leu173=) c.36C>G (p.Leu12=) c.-70C>G (n.-70C>G) | |
| 3 | g.122261554C>T | CA435424278 | CASR | c.519C>T (p.Leu173=) c.36C>T (p.Leu12=) c.-70C>T (n.-70C>T) | ClinVar |
| 3 | g.122261555C>A | CA354150761 | CASR | c.520C>A (p.Leu174Ile) c.37C>A (p.Leu13Ile) c.-69C>A (n.-69C>A) | |
| 3 | g.122261555C>G | CA354150762 | CASR | c.520C>G (p.Leu174Val) c.37C>G (p.Leu13Val) c.-69C>G (n.-69C>G) | |
| 3 | g.122261555C>T | CA354150763 | CASR | c.520C>T (p.Leu174Phe) c.37C>T (p.Leu13Phe) c.-69C>T (n.-69C>T) | |
| 3 | g.122261556T>A | CA354150764 | CASR | c.521T>A (p.Leu174His) c.38T>A (p.Leu13His) c.-68T>A (n.-68T>A) | |
| 3 | g.122261556T>C | CA354150765 | CASR | c.521T>C (p.Leu174Pro) c.38T>C (p.Leu13Pro) c.-68T>C (n.-68T>C) | ClinVar |
| 3 | g.122261556T>G | CA354150766 | CASR | c.521T>G (p.Leu174Arg) c.38T>G (p.Leu13Arg) c.-68T>G (n.-68T>G) | |
| 3 | g.122261557C>A | CA435424282 | CASR | c.522C>A (p.Leu174=) c.39C>A (p.Leu13=) c.-67C>A (n.-67C>A) | |
| 3 | g.122261557C>G | CA435424283 | CASR | c.522C>G (p.Leu174=) c.39C>G (p.Leu13=) c.-67C>G (n.-67C>G) | ClinVar dbSNP |
| 3 | g.122261557C>T | CA435424284 | CASR | c.522C>T (p.Leu174=) c.39C>T (p.Leu13=) c.-67C>T (n.-67C>T) | |
| 3 | g.122261558A>C | CA354150769 | CASR | c.523A>C (p.Ser175Arg) c.40A>C (p.Ser14Arg) c.-66A>C (n.-66A>C) | |
| 3 | g.122261558A>G | CA354150767 | CASR | c.523A>G (p.Ser175Gly) c.40A>G (p.Ser14Gly) c.-66A>G (n.-66A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261558A>T | CA354150768 | CASR | c.523A>T (p.Ser175Cys) c.40A>T (p.Ser14Cys) c.-66A>T (n.-66A>T) | |
| 3 | g.122261559G>A | CA354150770 | CASR | c.524G>A (p.Ser175Asn) c.41G>A (p.Ser14Asn) c.-65G>A (n.-65G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261559G>C | CA354150771 | CASR | c.524G>C (p.Ser175Thr) c.41G>C (p.Ser14Thr) c.-65G>C (n.-65G>C) | |
| 3 | g.122261559G= | CA1397872841 | CASR | c.524G= (p.Ser175=) c.41G= (p.Ser14=) c.-65G= (n.-65G=) | |
| 3 | g.122261559G>T | CA354150772 | CASR | c.524G>T (p.Ser175Ile) c.41G>T (p.Ser14Ile) c.-65G>T (n.-65G>T) | |
| 3 | g.122261560C>A | CA354150773 | CASR | c.525C>A (p.Ser175Arg) c.42C>A (p.Ser14Arg) c.-64C>A (n.-64C>A) | |
| 3 | g.122261560C= | CA1397872842 | CASR | c.525C= (p.Ser175=) c.42C= (p.Ser14=) c.-64C= (n.-64C=) | |
| 3 | g.122261560C>G | CA2569500 | CASR | c.525C>G (p.Ser175Arg) c.42C>G (p.Ser14Arg) c.-64C>G (n.-64C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261560C>T | CA435424286 | CASR | c.525C>T (p.Ser175=) c.42C>T (p.Ser14=) c.-64C>T (n.-64C>T) | |
| 3 | g.122261561A>C | CA354150774 | CASR | c.526A>C (p.Asn176His) c.43A>C (p.Asn15His) c.-63A>C (n.-63A>C) | |
| 3 | g.122261561A>G | CA354150775 | CASR | c.526A>G (p.Asn176Asp) c.43A>G (p.Asn15Asp) c.-63A>G (n.-63A>G) | |
| 3 | g.122261561A>T | CA354150776 | CASR | c.526A>T (p.Asn176Tyr) c.43A>T (p.Asn15Tyr) c.-63A>T (n.-63A>T) | |
| 3 | g.122261562A= | CA1397872844 | CASR | c.527A= (p.Asn176=) c.44A= (p.Asn15=) c.-62A= (n.-62A=) | |
| 3 | g.122261562A>C | CA354150777 | CASR | c.527A>C (p.Asn176Thr) c.44A>C (p.Asn15Thr) c.-62A>C (n.-62A>C) | |
| 3 | g.122261562A>G | CA16611289 | CASR | c.527A>G (p.Asn176Ser) c.44A>G (p.Asn15Ser) c.-62A>G (n.-62A>G) | ClinVar dbSNP |
| 3 | g.122261562A>T | CA354150778 | CASR | c.527A>T (p.Asn176Ile) c.44A>T (p.Asn15Ile) c.-62A>T (n.-62A>T) | |
| 3 | g.122261563del | CA2573136459 | CASR | c.528del (p.Asn176LysfsTer?) c.45del (p.Asn15LysfsTer?) c.-61del (n.-61del) | ClinVar dbSNP |
| 3 | g.122261563C>A | CA354150779 | CASR | c.528C>A (p.Asn176Lys) c.45C>A (p.Asn15Lys) c.-61C>A (n.-61C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261563C= | CA1397872847 | CASR | c.528C= (p.Asn176=) c.45C= (p.Asn15=) c.-61C= (n.-61C=) | |
| 3 | g.122261563C>G | CA2569502 | CASR | c.528C>G (p.Asn176Lys) c.45C>G (p.Asn15Lys) c.-61C>G (n.-61C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261563C>T | CA2569501 | CASR | c.528C>T (p.Asn176=) c.45C>T (p.Asn15=) c.-61C>T (n.-61C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122261564A>C | CA354150780 | CASR | c.529A>C (p.Lys177Gln) c.46A>C (p.Lys16Gln) c.-60A>C (n.-60A>C) | |
| 3 | g.122261564A>G | CA354150781 | CASR | c.529A>G (p.Lys177Glu) c.46A>G (p.Lys16Glu) c.-60A>G (n.-60A>G) | |
| 3 | g.122261564A>T | CA354150782 | CASR | c.529A>T (p.Lys177Ter) c.46A>T (p.Lys16Ter) c.-60A>T (n.-60A>T) | |
| 3 | g.122261565A>C | CA354150783 | CASR | c.530A>C (p.Lys177Thr) c.47A>C (p.Lys16Thr) c.-59A>C (n.-59A>C) | |
| 3 | g.122261565A>G | CA354150784 | CASR | c.530A>G (p.Lys177Arg) c.47A>G (p.Lys16Arg) c.-59A>G (n.-59A>G) | |
| 3 | g.122261565A>T | CA354150785 | CASR | c.530A>T (p.Lys177Met) c.47A>T (p.Lys16Met) c.-59A>T (n.-59A>T) | |
| 3 | g.122261566G>A | CA435424288 | CASR | c.531G>A (p.Lys177=) c.48G>A (p.Lys16=) c.-58G>A (n.-58G>A) | |
| 3 | g.122261566G>C | CA354150786 | CASR | c.531G>C (p.Lys177Asn) c.48G>C (p.Lys16Asn) c.-58G>C (n.-58G>C) | |
| 3 | g.122261566G= | CA1397872850 | CASR | c.531G= (p.Lys177=) c.48G= (p.Lys16=) c.-58G= (n.-58G=) | |
| 3 | g.122261566G>T | CA354150787 | CASR | c.531G>T (p.Lys177Asn) c.48G>T (p.Lys16Asn) c.-58G>T (n.-58G>T) | ClinVar dbSNP |
| 3 | g.122261567A= | CA1397872852 | CASR | c.532A= (p.Asn178=) c.49A= (p.Asn17=) c.-57A= (n.-57A=) | |
| 3 | g.122261567A>C | CA354150788 | CASR | c.532A>C (p.Asn178His) c.49A>C (p.Asn17His) c.-57A>C (n.-57A>C) | |
| 3 | g.122261567A>G | CA16611083 | CASR | c.532A>G (p.Asn178Asp) c.49A>G (p.Asn17Asp) c.-57A>G (n.-57A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261567A>T | CA354150789 | CASR | c.532A>T (p.Asn178Tyr) c.49A>T (p.Asn17Tyr) c.-57A>T (n.-57A>T) | ClinVar dbSNP |
| 3 | g.122261568A>C | CA354150790 | CASR | c.533A>C (p.Asn178Thr) c.50A>C (p.Asn17Thr) c.-56A>C (n.-56A>C) | |
| 3 | g.122261568A>G | CA354150791 | CASR | c.533A>G (p.Asn178Ser) c.50A>G (p.Asn17Ser) c.-56A>G (n.-56A>G) | ClinVar |
| 3 | g.122261568A>T | CA354150792 | CASR | c.533A>T (p.Asn178Ile) c.50A>T (p.Asn17Ile) c.-56A>T (n.-56A>T) | |
| 3 | g.122261569T>A | CA82738217 | CASR | c.534T>A (p.Asn178Lys) c.51T>A (p.Asn17Lys) c.-55T>A (n.-55T>A) | ClinVar dbSNP |
| 3 | g.122261569T>C | CA435424291 | CASR | c.534T>C (p.Asn178=) c.51T>C (p.Asn17=) c.-55T>C (n.-55T>C) | |
| 3 | g.122261569T>G | CA354150793 | CASR | c.534T>G (p.Asn178Lys) c.51T>G (p.Asn17Lys) c.-55T>G (n.-55T>G) | |
| 3 | g.122261569T= | CA1397872853 | CASR | c.534T= (p.Asn178=) c.51T= (p.Asn17=) c.-55T= (n.-55T=) | |
| 3 | g.122261570C>A | CA354150794 | CASR | c.535C>A (p.Gln179Lys) c.52C>A (p.Gln18Lys) c.-54C>A (n.-54C>A) | gnomAD v4 |
| 3 | g.122261570C>G | CA354150795 | CASR | c.535C>G (p.Gln179Glu) c.52C>G (p.Gln18Glu) c.-54C>G (n.-54C>G) | |
| 3 | g.122261570C>T | CA354150796 | CASR | c.535C>T (p.Gln179Ter) c.52C>T (p.Gln18Ter) c.-54C>T (n.-54C>T) | |
| 3 | g.122261571A= | CA1397872855 | CASR | c.536A= (p.Gln179=) c.53A= (p.Gln18=) c.-53A= (n.-53A=) | |
| 3 | g.122261571A>C | CA354150797 | CASR | c.536A>C (p.Gln179Pro) c.53A>C (p.Gln18Pro) c.-53A>C (n.-53A>C) | |
| 3 | g.122261571A>G | CA82738221 | CASR | c.536A>G (p.Gln179Arg) c.53A>G (p.Gln18Arg) c.-53A>G (n.-53A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261571A>T | CA354150798 | CASR | c.536A>T (p.Gln179Leu) c.53A>T (p.Gln18Leu) c.-53A>T (n.-53A>T) | |
| 3 | g.122261572A= | CA1397872857 | CASR | c.537A= (p.Gln179=) c.54A= (p.Gln18=) c.-52A= (n.-52A=) | |
| 3 | g.122261572A>C | CA354150799 | CASR | c.537A>C (p.Gln179His) c.54A>C (p.Gln18His) c.-52A>C (n.-52A>C) | |
| 3 | g.122261572A>G | CA2569503 | CASR | c.537A>G (p.Gln179=) c.54A>G (p.Gln18=) c.-52A>G (n.-52A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261572A>T | CA354150800 | CASR | c.537A>T (p.Gln179His) c.54A>T (p.Gln18His) c.-52A>T (n.-52A>T) | |
| 3 | g.122261573T>A | CA354150801 | CASR | c.538T>A (p.Phe180Ile) c.55T>A (p.Phe19Ile) c.-51T>A (n.-51T>A) | |
| 3 | g.122261573T>C | CA354150802 | CASR | c.538T>C (p.Phe180Leu) c.55T>C (p.Phe19Leu) c.-51T>C (n.-51T>C) | |
| 3 | g.122261573T>G | CA354150803 | CASR | c.538T>G (p.Phe180Val) c.55T>G (p.Phe19Val) c.-51T>G (n.-51T>G) | |
| 3 | g.122261574T>A | CA354150804 | CASR | c.539T>A (p.Phe180Tyr) c.56T>A (p.Phe19Tyr) c.-50T>A (n.-50T>A) | |
| 3 | g.122261574T>C | CA354150805 | CASR | c.539T>C (p.Phe180Ser) c.56T>C (p.Phe19Ser) c.-50T>C (n.-50T>C) | |
| 3 | g.122261574T>G | CA119543 | CASR | c.539T>G (p.Phe180Cys) c.56T>G (p.Phe19Cys) c.-50T>G (n.-50T>G) | ClinVar dbSNP |
| 3 | g.122261574T= | CA1397872859 | CASR | c.539T= (p.Phe180=) c.56T= (p.Phe19=) c.-50T= (n.-50T=) | |
| 3 | g.122261575C>A | CA354150806 | CASR | c.540C>A (p.Phe180Leu) c.57C>A (p.Phe19Leu) c.-49C>A (n.-49C>A) | |
| 3 | g.122261575C>G | CA354150807 | CASR | c.540C>G (p.Phe180Leu) c.57C>G (p.Phe19Leu) c.-49C>G (n.-49C>G) | |
| 3 | g.122261575C>T | CA435424298 | CASR | c.540C>T (p.Phe180=) c.57C>T (p.Phe19=) c.-49C>T (n.-49C>T) | ClinVar |
| 3 | g.122261576A>C | CA354150808 | CASR | c.541A>C (p.Lys181Gln) c.58A>C (p.Lys20Gln) c.-48A>C (n.-48A>C) | |
| 3 | g.122261576A>G | CA354150810 | CASR | c.541A>G (p.Lys181Glu) c.58A>G (p.Lys20Glu) c.-48A>G (n.-48A>G) | |
| 3 | g.122261576A>T | CA354150809 | CASR | c.541A>T (p.Lys181Ter) c.58A>T (p.Lys20Ter) c.-48A>T (n.-48A>T) | |
| 3 | g.122261576_122261577del | CA2577870021 | CASR | c.541_542del (p.Lys181ValfsTer9) c.58_59del (p.Lys20ValfsTer9) c.-48_-47del (n.-48_-47del) | |
| 3 | g.122261577A>C | CA354150811 | CASR | c.542A>C (p.Lys181Thr) c.59A>C (p.Lys20Thr) c.-47A>C (n.-47A>C) | |
| 3 | g.122261577A>G | CA354150813 | CASR | c.542A>G (p.Lys181Arg) c.59A>G (p.Lys20Arg) c.-47A>G (n.-47A>G) | |
| 3 | g.122261577A>T | CA354150812 | CASR | c.542A>T (p.Lys181Met) c.59A>T (p.Lys20Met) c.-47A>T (n.-47A>T) | |
| 3 | g.122261578del | CA2577870022 | CASR | c.543del (p.Lys181AsnfsTer?) c.60del (p.Lys20AsnfsTer?) c.-46del (n.-46del) | |
| 3 | g.122261578G>A | CA435424300 | CASR | c.543G>A (p.Lys181=) c.60G>A (p.Lys20=) c.-46G>A (n.-46G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261578G>C | CA354150814 | CASR | c.543G>C (p.Lys181Asn) c.60G>C (p.Lys20Asn) c.-46G>C (n.-46G>C) | |
| 3 | g.122261578G= | CA1397872860 | CASR | c.543G= (p.Lys181=) c.60G= (p.Lys20=) c.-46G= (n.-46G=) | |
| 3 | g.122261578G>T | CA354150815 | CASR | c.543G>T (p.Lys181Asn) c.60G>T (p.Lys20Asn) c.-46G>T (n.-46G>T) | |
| 3 | g.122261579T>A | CA354150816 | CASR | c.544T>A (p.Ser182Thr) c.61T>A (p.Ser21Thr) c.-45T>A (n.-45T>A) | COSMIC |
| 3 | g.122261579T>C | CA354150817 | CASR | c.544T>C (p.Ser182Pro) c.61T>C (p.Ser21Pro) c.-45T>C (n.-45T>C) | |
| 3 | g.122261579T>G | CA354150818 | CASR | c.544T>G (p.Ser182Ala) c.61T>G (p.Ser21Ala) c.-45T>G (n.-45T>G) | |
| 3 | g.122261580C>A | CA354150819 | CASR | c.545C>A (p.Ser182Tyr) c.62C>A (p.Ser21Tyr) c.-44C>A (n.-44C>A) | |
| 3 | g.122261580C= | CA1397872862 | CASR | c.545C= (p.Ser182=) c.62C= (p.Ser21=) c.-44C= (n.-44C=) | |
| 3 | g.122261580C>G | CA354150820 | CASR | c.545C>G (p.Ser182Cys) c.62C>G (p.Ser21Cys) c.-44C>G (n.-44C>G) | ClinVar |
| 3 | g.122261580C>T | CA354150821 | CASR | c.545C>T (p.Ser182Phe) c.62C>T (p.Ser21Phe) c.-44C>T (n.-44C>T) | ClinVar dbSNP |
| 3 | g.122261581T>A | CA2569504 | CASR | c.546T>A (p.Ser182=) c.63T>A (p.Ser21=) c.-43T>A (n.-43T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261581T>C | CA435424303 | CASR | c.546T>C (p.Ser182=) c.63T>C (p.Ser21=) c.-43T>C (n.-43T>C) | |
| 3 | g.122261581T>G | CA435424304 | CASR | c.546T>G (p.Ser182=) c.63T>G (p.Ser21=) c.-43T>G (n.-43T>G) | |
| 3 | g.122261581T= | CA1397872865 | CASR | c.546T= (p.Ser182=) c.63T= (p.Ser21=) c.-43T= (n.-43T=) | |
| 3 | g.122261582_122261583del | CA2499216406 | CASR | c.547_548del (p.Phe183ProfsTer7) c.64_65del (p.Phe22ProfsTer7) c.-42_-41del (n.-42_-41del) | ClinVar dbSNP |
| 3 | g.122261582T>A | CA354150822 | CASR | c.547T>A (p.Phe183Ile) c.64T>A (p.Phe22Ile) c.-42T>A (n.-42T>A) | |
| 3 | g.122261582T>C | CA354150823 | CASR | c.547T>C (p.Phe183Leu) c.64T>C (p.Phe22Leu) c.-42T>C (n.-42T>C) | |
| 3 | g.122261582T>G | CA354150824 | CASR | c.547T>G (p.Phe183Val) c.64T>G (p.Phe22Val) c.-42T>G (n.-42T>G) | |
| 3 | g.122261583T>A | CA354150825 | CASR | c.548T>A (p.Phe183Tyr) c.65T>A (p.Phe22Tyr) c.-41T>A (n.-41T>A) | COSMIC |
| 3 | g.122261583T>C | CA16617813 | CASR | c.548T>C (p.Phe183Ser) c.65T>C (p.Phe22Ser) c.-41T>C (n.-41T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261583T>G | CA354150826 | CASR | c.548T>G (p.Phe183Cys) c.65T>G (p.Phe22Cys) c.-41T>G (n.-41T>G) | |
| 3 | g.122261583T= | CA1397872868 | CASR | c.548T= (p.Phe183=) c.65T= (p.Phe22=) c.-41T= (n.-41T=) | |
| 3 | g.122261584C>A | CA354150827 | CASR | c.549C>A (p.Phe183Leu) c.66C>A (p.Phe22Leu) c.-40C>A (n.-40C>A) | |
| 3 | g.122261584C= | CA1397872870 | CASR | c.549C= (p.Phe183=) c.66C= (p.Phe22=) c.-40C= (n.-40C=) | |
| 3 | g.122261584C>G | CA354150828 | CASR | c.549C>G (p.Phe183Leu) c.66C>G (p.Phe22Leu) c.-40C>G (n.-40C>G) | ClinVar dbSNP |
| 3 | g.122261584C>T | CA2569505 | CASR | c.549C>T (p.Phe183=) c.66C>T (p.Phe22=) c.-40C>T (n.-40C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261585C>A | CA354150829 | CASR | c.550C>A (p.Leu184Ile) c.67C>A (p.Leu23Ile) c.-39C>A (n.-39C>A) | |
| 3 | g.122261585C= | CA1397872872 | CASR | c.550C= (p.Leu184=) c.67C= (p.Leu23=) c.-39C= (n.-39C=) | |
| 3 | g.122261585C>G | CA354150830 | CASR | c.550C>G (p.Leu184Val) c.67C>G (p.Leu23Val) c.-39C>G (n.-39C>G) | ClinVar dbSNP |
| 3 | g.122261585C>T | CA354150831 | CASR | c.550C>T (p.Leu184Phe) c.67C>T (p.Leu23Phe) c.-39C>T (n.-39C>T) | ClinVar dbSNP COSMIC |
| 3 | g.122261586T>A | CA354150832 | CASR | c.551T>A (p.Leu184His) c.68T>A (p.Leu23His) c.-38T>A (n.-38T>A) | |
| 3 | g.122261586T>C | CA354150833 | CASR | c.551T>C (p.Leu184Pro) c.68T>C (p.Leu23Pro) c.-38T>C (n.-38T>C) | ClinVar dbSNP |
| 3 | g.122261586T>G | CA354150834 | CASR | c.551T>G (p.Leu184Arg) c.68T>G (p.Leu23Arg) c.-38T>G (n.-38T>G) | ClinVar |
| 3 | g.122261586T= | CA1397872875 | CASR | c.551T= (p.Leu184=) c.68T= (p.Leu23=) c.-38T= (n.-38T=) | |
| 3 | g.122261587C>A | CA435424311 | CASR | c.552C>A (p.Leu184=) c.69C>A (p.Leu23=) c.-37C>A (n.-37C>A) | |
| 3 | g.122261587C>G | CA435424312 | CASR | c.552C>G (p.Leu184=) c.69C>G (p.Leu23=) c.-37C>G (n.-37C>G) | |
| 3 | g.122261587C>T | CA435424313 | CASR | c.552C>T (p.Leu184=) c.69C>T (p.Leu23=) c.-37C>T (n.-37C>T) | |
| 3 | g.122261588C>A | CA2569506 | CASR | c.553C>A (p.Arg185=) c.70C>A (p.Arg24=) c.-36C>A (n.-36C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261588C= | CA1397872879 | CASR | c.553C= (p.Arg185=) c.70C= (p.Arg24=) c.-36C= (n.-36C=) | |
| 3 | g.122261588C>G | CA354150835 | CASR | c.553C>G (p.Arg185Gly) c.70C>G (p.Arg24Gly) c.-36C>G (n.-36C>G) | |
| 3 | g.122261588C>T | CA119523 | CASR | c.553C>T (p.Arg185Ter) c.70C>T (p.Arg24Ter) c.-36C>T (n.-36C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122261588_122261589delinsCG | CA1397872881 | CASR | c.553_554delinsCG (p.Arg185=) c.70_71delinsCG (p.Arg24=) c.-36_-35delinsCG (n.-36_-35delinsCG) | |
| 3 | g.122261589del | CA213603 | CASR | c.554del (p.Arg185GlnfsTer?) c.71del (p.Arg24GlnfsTer?) c.-35del (n.-35del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261589G>A | CA119471 | CASR | c.554G>A (p.Arg185Gln) c.71G>A (p.Arg24Gln) c.-35G>A (n.-35G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122261589G>C | CA354150836 | CASR | c.554G>C (p.Arg185Pro) c.71G>C (p.Arg24Pro) c.-35G>C (n.-35G>C) | ClinVar dbSNP |
| 3 | g.122261589G= | CA1397872884 | CASR | c.554G= (p.Arg185=) c.71G= (p.Arg24=) c.-35G= (n.-35G=) | |
| 3 | g.122261589G>T | CA354150837 | CASR | c.554G>T (p.Arg185Leu) c.71G>T (p.Arg24Leu) c.-35G>T (n.-35G>T) | ClinVar dbSNP |
| 3 | g.122261590A= | CA1397872887 | CASR | c.555A= (p.Arg185=) c.72A= (p.Arg24=) c.-34A= (n.-34A=) | |
| 3 | g.122261590A>C | CA435424316 | CASR | c.555A>C (p.Arg185=) c.72A>C (p.Arg24=) c.-34A>C (n.-34A>C) | |
| 3 | g.122261590A>G | CA435424318 | CASR | c.555A>G (p.Arg185=) c.72A>G (p.Arg24=) c.-34A>G (n.-34A>G) | |
| 3 | g.122261590A>T | CA435424320 | CASR | c.555A>T (p.Arg185=) c.72A>T (p.Arg24=) c.-34A>T (n.-34A>T) | ClinVar dbSNP |
| 3 | g.122261591A>C | CA354150838 | CASR | c.556A>C (p.Thr186Pro) c.73A>C (p.Thr25Pro) c.-33A>C (n.-33A>C) | |
| 3 | g.122261591A>G | CA354150839 | CASR | c.556A>G (p.Thr186Ala) c.73A>G (p.Thr25Ala) c.-33A>G (n.-33A>G) | |
| 3 | g.122261591A>T | CA354150840 | CASR | c.556A>T (p.Thr186Ser) c.73A>T (p.Thr25Ser) c.-33A>T (n.-33A>T) | gnomAD v4 |
| 3 | g.122261592C>A | CA354150841 | CASR | c.557C>A (p.Thr186Asn) c.74C>A (p.Thr25Asn) c.-32C>A (n.-32C>A) | |
| 3 | g.122261592C>G | CA354150842 | CASR | c.557C>G (p.Thr186Ser) c.74C>G (p.Thr25Ser) c.-32C>G (n.-32C>G) | |
| 3 | g.122261592C>T | CA354150843 | CASR | c.557C>T (p.Thr186Ile) c.74C>T (p.Thr25Ile) c.-32C>T (n.-32C>T) | |
| 3 | g.122261593C>A | CA435424327 | CASR | c.558C>A (p.Thr186=) c.75C>A (p.Thr25=) c.-31C>A (n.-31C>A) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.122261593C= | CA1397872888 | CASR | c.558C= (p.Thr186=) c.75C= (p.Thr25=) c.-31C= (n.-31C=) | |
| 3 | g.122261593C>G | CA435424326 | CASR | c.558C>G (p.Thr186=) c.75C>G (p.Thr25=) c.-31C>G (n.-31C>G) | |
| 3 | g.122261593C>T | CA435424325 | CASR | c.558C>T (p.Thr186=) c.75C>T (p.Thr25=) c.-31C>T (n.-31C>T) | ClinVar |
| 3 | g.122261594A>C | CA354150844 | CASR | c.559A>C (p.Ile187Leu) c.76A>C (p.Ile26Leu) c.-30A>C (n.-30A>C) | |
| 3 | g.122261594A>G | CA354150845 | CASR | c.559A>G (p.Ile187Val) c.76A>G (p.Ile26Val) c.-30A>G (n.-30A>G) | |
| 3 | g.122261594A>T | CA354150846 | CASR | c.559A>T (p.Ile187Phe) c.76A>T (p.Ile26Phe) c.-30A>T (n.-30A>T) | |
| 3 | g.122261595T>A | CA354150847 | CASR | c.560T>A (p.Ile187Asn) c.77T>A (p.Ile26Asn) c.-29T>A (n.-29T>A) | ClinVar dbSNP |
| 3 | g.122261595T>C | CA2569507 | CASR | c.560T>C (p.Ile187Thr) c.77T>C (p.Ile26Thr) c.-29T>C (n.-29T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261595T>G | CA354150848 | CASR | c.560T>G (p.Ile187Ser) c.77T>G (p.Ile26Ser) c.-29T>G (n.-29T>G) | |
| 3 | g.122261595T= | CA1397872890 | CASR | c.560T= (p.Ile187=) c.77T= (p.Ile26=) c.-29T= (n.-29T=) | |
| 3 | g.122261596C>A | CA435424332 | CASR | c.561C>A (p.Ile187=) c.78C>A (p.Ile26=) c.-28C>A (n.-28C>A) | |
| 3 | g.122261596C>G | CA354150849 | CASR | c.561C>G (p.Ile187Met) c.78C>G (p.Ile26Met) c.-28C>G (n.-28C>G) | |
| 3 | g.122261596C>T | CA435424333 | CASR | c.561C>T (p.Ile187=) c.78C>T (p.Ile26=) c.-28C>T (n.-28C>T) | gnomAD v4 |
| 3 | g.122261597C>A | CA354150850 | CASR | c.562C>A (p.Pro188Thr) c.79C>A (p.Pro27Thr) c.-27C>A (n.-27C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261597C= | CA1397872892 | CASR | c.562C= (p.Pro188=) c.79C= (p.Pro27=) c.-27C= (n.-27C=) | |
| 3 | g.122261597C>G | CA354150851 | CASR | c.562C>G (p.Pro188Ala) c.79C>G (p.Pro27Ala) c.-27C>G (n.-27C>G) | |
| 3 | g.122261597C>T | CA2569508 | CASR | c.562C>T (p.Pro188Ser) c.79C>T (p.Pro27Ser) c.-27C>T (n.-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261598C>A | CA354150852 | CASR | c.563C>A (p.Pro188His) c.80C>A (p.Pro27His) c.-26C>A (n.-26C>A) | |
| 3 | g.122261598C>G | CA354150853 | CASR | c.563C>G (p.Pro188Arg) c.80C>G (p.Pro27Arg) c.-26C>G (n.-26C>G) | |
| 3 | g.122261598C>T | CA354150854 | CASR | c.563C>T (p.Pro188Leu) c.80C>T (p.Pro27Leu) c.-26C>T (n.-26C>T) | |
| 3 | g.122261599C>A | CA435424336 | CASR | c.564C>A (p.Pro188=) c.81C>A (p.Pro27=) c.-25C>A (n.-25C>A) | ClinVar |
| 3 | g.122261599C>G | CA435424337 | CASR | c.564C>G (p.Pro188=) c.81C>G (p.Pro27=) c.-25C>G (n.-25C>G) | |
| 3 | g.122261599C>T | CA435424338 | CASR | c.564C>T (p.Pro188=) c.81C>T (p.Pro27=) c.-25C>T (n.-25C>T) | |
| 3 | g.122261600A>C | CA354150855 | CASR | c.565A>C (p.Asn189His) c.82A>C (p.Asn28His) c.-24A>C (n.-24A>C) | ClinVar dbSNP |
| 3 | g.122261600A>G | CA354150856 | CASR | c.565A>G (p.Asn189Asp) c.82A>G (p.Asn28Asp) c.-24A>G (n.-24A>G) | |
| 3 | g.122261600A>T | CA354150857 | CASR | c.565A>T (p.Asn189Tyr) c.82A>T (p.Asn28Tyr) c.-24A>T (n.-24A>T) | |
| 3 | g.122261601A= | CA1397872895 | CASR | c.566A= (p.Asn189=) c.83A= (p.Asn28=) c.-23A= (n.-23A=) | |
| 3 | g.122261601A>C | CA354150859 | CASR | c.566A>C (p.Asn189Thr) c.83A>C (p.Asn28Thr) c.-23A>C (n.-23A>C) | gnomAD v4 |
| 3 | g.122261601A>G | CA2569509 | CASR | c.566A>G (p.Asn189Ser) c.83A>G (p.Asn28Ser) c.-23A>G (n.-23A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261601A>T | CA354150858 | CASR | c.566A>T (p.Asn189Ile) c.83A>T (p.Asn28Ile) c.-23A>T (n.-23A>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261601_122261602delinsTC | CA2580068626 | CASR | c.566_567delinsTC (p.Asn189Ile) c.83_84delinsTC (p.Asn28Ile) c.-23_-22delinsTC (n.-23_-22delinsTC) | ClinVar |
| 3 | g.122261602T>A | CA354150861 | CASR | c.567T>A (p.Asn189Lys) c.84T>A (p.Asn28Lys) c.-22T>A (n.-22T>A) | |
| 3 | g.122261602T>C | CA435424343 | CASR | c.567T>C (p.Asn189=) c.84T>C (p.Asn28=) c.-22T>C (n.-22T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261602T>G | CA354150860 | CASR | c.567T>G (p.Asn189Lys) c.84T>G (p.Asn28Lys) c.-22T>G (n.-22T>G) | |
| 3 | g.122261602T= | CA1397872897 | CASR | c.567T= (p.Asn189=) c.84T= (p.Asn28=) c.-22T= (n.-22T=) | |
| 3 | g.122261603G>A | CA354150862 | CASR | c.568G>A (p.Asp190Asn) c.85G>A (p.Asp29Asn) c.-21G>A (n.-21G>A) | ClinVar |
| 3 | g.122261603G>C | CA354150863 | CASR | c.568G>C (p.Asp190His) c.85G>C (p.Asp29His) c.-21G>C (n.-21G>C) | |
| 3 | g.122261603G>T | CA354150864 | CASR | c.568G>T (p.Asp190Tyr) c.85G>T (p.Asp29Tyr) c.-21G>T (n.-21G>T) | |
| 3 | g.122261604A>C | CA354150865 | CASR | c.569A>C (p.Asp190Ala) c.86A>C (p.Asp29Ala) c.-20A>C (n.-20A>C) | |
| 3 | g.122261604A>G | CA354150866 | CASR | c.569A>G (p.Asp190Gly) c.86A>G (p.Asp29Gly) c.-20A>G (n.-20A>G) | ClinVar gnomAD v4 |
| 3 | g.122261604A>T | CA354150867 | CASR | c.569A>T (p.Asp190Val) c.86A>T (p.Asp29Val) c.-20A>T (n.-20A>T) | |
| 3 | g.122261605del | CA2586972800 | CASR | c.570del (p.Asp190GlufsTer?) c.87del (p.Asp29GlufsTer?) c.-19del (n.-19del) | |
| 3 | g.122261605T>A | CA354150868 | CASR | c.570T>A (p.Asp190Glu) c.87T>A (p.Asp29Glu) c.-19T>A (n.-19T>A) | |
| 3 | g.122261605T>C | CA435424349 | CASR | c.570T>C (p.Asp190=) c.87T>C (p.Asp29=) c.-19T>C (n.-19T>C) | gnomAD v4 |
| 3 | g.122261605T>G | CA354150869 | CASR | c.570T>G (p.Asp190Glu) c.87T>G (p.Asp29Glu) c.-19T>G (n.-19T>G) | |
| 3 | g.122261606G>A | CA119491 | CASR | c.571G>A (p.Glu191Lys) c.88G>A (p.Glu30Lys) c.-18G>A (n.-18G>A) | ClinVar dbSNP |
| 3 | g.122261606G>C | CA354150870 | CASR | c.571G>C (p.Glu191Gln) c.88G>C (p.Glu30Gln) c.-18G>C (n.-18G>C) | |
| 3 | g.122261606G= | CA1397872899 | CASR | c.571G= (p.Glu191=) c.88G= (p.Glu30=) c.-18G= (n.-18G=) | |
| 3 | g.122261606G>T | CA354150871 | CASR | c.571G>T (p.Glu191Ter) c.88G>T (p.Glu30Ter) c.-18G>T (n.-18G>T) | |
| 3 | g.122261606_122261636del | CA2667224705 | CASR | c.571_601del (p.Glu191SerfsTer?) c.88_118del (p.Glu30SerfsTer?) c.-18_13del | gnomAD v4 |
| 3 | g.122261607A= | CA1397872902 | CASR | c.572A= (p.Glu191=) c.89A= (p.Glu30=) c.-17A= (n.-17A=) | |
| 3 | g.122261607A>C | CA354150873 | CASR | c.572A>C (p.Glu191Ala) c.89A>C (p.Glu30Ala) c.-17A>C (n.-17A>C) | |
| 3 | g.122261607A>G | CA2569510 | CASR | c.572A>G (p.Glu191Gly) c.89A>G (p.Glu30Gly) c.-17A>G (n.-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261607A>T | CA354150872 | CASR | c.572A>T (p.Glu191Val) c.89A>T (p.Glu30Val) c.-17A>T (n.-17A>T) | |
| 3 | g.122261608G>A | CA2569511 | CASR | c.573G>A (p.Glu191=) c.90G>A (p.Glu30=) c.-16G>A (n.-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122261608G>C | CA354150874 | CASR | c.573G>C (p.Glu191Asp) c.90G>C (p.Glu30Asp) c.-16G>C (n.-16G>C) | |
| 3 | g.122261608G= | CA1397872905 | CASR | c.573G= (p.Glu191=) c.90G= (p.Glu30=) c.-16G= (n.-16G=) | |
| 3 | g.122261608G>T | CA354150875 | CASR | c.573G>T (p.Glu191Asp) c.90G>T (p.Glu30Asp) c.-16G>T (n.-16G>T) | |
| 3 | g.122261609C>A | CA354150876 | CASR | c.574C>A (p.His192Asn) c.91C>A (p.His31Asn) c.-15C>A (n.-15C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261609C>G | CA354150877 | CASR | c.574C>G (p.His192Asp) c.91C>G (p.His31Asp) c.-15C>G (n.-15C>G) | |
| 3 | g.122261609C>T | CA354150878 | CASR | c.574C>T (p.His192Tyr) c.91C>T (p.His31Tyr) c.-15C>T (n.-15C>T) | |
| 3 | g.122261610A>C | CA354150879 | CASR | c.575A>C (p.His192Pro) c.92A>C (p.His31Pro) c.-14A>C (n.-14A>C) | |
| 3 | g.122261610A>G | CA354150880 | CASR | c.575A>G (p.His192Arg) c.92A>G (p.His31Arg) c.-14A>G (n.-14A>G) | |
| 3 | g.122261610A>T | CA354150881 | CASR | c.575A>T (p.His192Leu) c.92A>T (p.His31Leu) c.-14A>T (n.-14A>T) | |
| 3 | g.122261611C>A | CA354150882 | CASR | c.576C>A (p.His192Gln) c.93C>A (p.His31Gln) c.-13C>A (n.-13C>A) | |
| 3 | g.122261611C>G | CA354150883 | CASR | c.576C>G (p.His192Gln) c.93C>G (p.His31Gln) c.-13C>G (n.-13C>G) | ClinVar |
| 3 | g.122261611C>T | CA435424354 | CASR | c.576C>T (p.His192=) c.93C>T (p.His31=) c.-13C>T (n.-13C>T) | |
| 3 | g.122261612C>A | CA354150884 | CASR | c.577C>A (p.Gln193Lys) c.94C>A (p.Gln32Lys) c.-12C>A (n.-12C>A) | ClinVar gnomAD v4 |
| 3 | g.122261612C= | CA1397872907 | CASR | c.577C= (p.Gln193=) c.94C= (p.Gln32=) c.-12C= (n.-12C=) | |
| 3 | g.122261612C>G | CA354150885 | CASR | c.577C>G (p.Gln193Glu) c.94C>G (p.Gln32Glu) c.-12C>G (n.-12C>G) | |
| 3 | g.122261612C>T | CA16617814 | CASR | c.577C>T (p.Gln193Ter) c.94C>T (p.Gln32Ter) c.-12C>T (n.-12C>T) | ClinVar dbSNP |
| 3 | g.122261613A= | CA1397872909 | CASR | c.578A= (p.Gln193=) c.95A= (p.Gln32=) c.-11A= (n.-11A=) | |
| 3 | g.122261613A>C | CA354150886 | CASR | c.578A>C (p.Gln193Pro) c.95A>C (p.Gln32Pro) c.-11A>C (n.-11A>C) | |
| 3 | g.122261613A>G | CA354150887 | CASR | c.578A>G (p.Gln193Arg) c.95A>G (p.Gln32Arg) c.-11A>G (n.-11A>G) | |
| 3 | g.122261613A>T | CA354150888 | CASR | c.578A>T (p.Gln193Leu) c.95A>T (p.Gln32Leu) c.-11A>T (n.-11A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261614G>A | CA82738262 | CASR | c.579G>A (p.Gln193=) c.96G>A (p.Gln32=) c.-10G>A (n.-10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261614G>C | CA354150889 | CASR | c.579G>C (p.Gln193His) c.96G>C (p.Gln32His) c.-10G>C (n.-10G>C) | |
| 3 | g.122261614G= | CA1397872912 | CASR | c.579G= (p.Gln193=) c.96G= (p.Gln32=) c.-10G= (n.-10G=) | |
| 3 | g.122261614G>T | CA354150890 | CASR | c.579G>T (p.Gln193His) c.96G>T (p.Gln32His) c.-10G>T (n.-10G>T) | |
| 3 | g.122261615G>A | CA354150893 | CASR | c.580G>A (p.Ala194Thr) c.97G>A (p.Ala33Thr) c.-9G>A (n.-9G>A) | |
| 3 | g.122261615G>C | CA354150892 | CASR | c.580G>C (p.Ala194Pro) c.97G>C (p.Ala33Pro) c.-9G>C (n.-9G>C) | |
| 3 | g.122261615G>T | CA354150891 | CASR | c.580G>T (p.Ala194Ser) c.97G>T (p.Ala33Ser) c.-9G>T (n.-9G>T) | ClinVar |
| 3 | g.122261615_122261616delinsCT | CA2580068631 | CASR | c.580_581delinsCT (p.Ala194Leu) c.97_98delinsCT (p.Ala33Leu) c.-9_-8delinsCT (n.-9_-8delinsCT) | ClinVar |
| 3 | g.122261616C>A | CA354150894 | CASR | c.581C>A (p.Ala194Asp) c.98C>A (p.Ala33Asp) c.-8C>A (n.-8C>A) | |
| 3 | g.122261616C>G | CA354150895 | CASR | c.581C>G (p.Ala194Gly) c.98C>G (p.Ala33Gly) c.-8C>G (n.-8C>G) | |
| 3 | g.122261616C>T | CA354150896 | CASR | c.581C>T (p.Ala194Val) c.98C>T (p.Ala33Val) c.-8C>T (n.-8C>T) | COSMIC |
| 3 | g.122261617del | CA2667224706 | CASR | c.582del (p.Thr195LeufsTer?) c.99del (p.Thr34LeufsTer?) c.-7del (n.-7del) | gnomAD v4 |
| 3 | g.122261617C>A | CA435424360 | CASR | c.582C>A (p.Ala194=) c.99C>A (p.Ala33=) c.-7C>A (n.-7C>A) | |
| 3 | g.122261617C>G | CA435424361 | CASR | c.582C>G (p.Ala194=) c.99C>G (p.Ala33=) c.-7C>G (n.-7C>G) | |
| 3 | g.122261617C>T | CA435424362 | CASR | c.582C>T (p.Ala194=) c.99C>T (p.Ala33=) c.-7C>T (n.-7C>T) | gnomAD v4 |