| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207611682C>A | CA344544926 | CR1 | c.6301C>A (p.Gln2101Lys) c.4951C>A (p.Gln1651Lys) c.1180-4893C>A c.6316C>A (p.Gln2106Lys) c.4966C>A (p.Gln1656Lys) | |
| 1 | g.207611682C>G | CA344544927 | CR1 | c.6301C>G (p.Gln2101Glu) c.4951C>G (p.Gln1651Glu) c.1180-4893C>G c.6316C>G (p.Gln2106Glu) c.4966C>G (p.Gln1656Glu) | |
| 1 | g.207611682C>T | CA344544928 | CR1 | c.6301C>T (p.Gln2101Ter) c.4951C>T (p.Gln1651Ter) c.1180-4893C>T c.6316C>T (p.Gln2106Ter) c.4966C>T (p.Gln1656Ter) | dbSNP |
| 1 | g.207611683A>C | CA344544929 | CR1 | c.6302A>C (p.Gln2101Pro) c.4952A>C (p.Gln1651Pro) c.1180-4892A>C c.6317A>C (p.Gln2106Pro) c.4967A>C (p.Gln1656Pro) | |
| 1 | g.207611683A>G | CA344544930 | CR1 | c.6302A>G (p.Gln2101Arg) c.4952A>G (p.Gln1651Arg) c.1180-4892A>G c.6317A>G (p.Gln2106Arg) c.4967A>G (p.Gln1656Arg) | |
| 1 | g.207611683A>T | CA344544931 | CR1 | c.6302A>T (p.Gln2101Leu) c.4952A>T (p.Gln1651Leu) c.1180-4892A>T c.6317A>T (p.Gln2106Leu) c.4967A>T (p.Gln1656Leu) | |
| 1 | g.207611684G>A | CA422972672 | CR1 | c.6303G>A (p.Gln2101=) c.4953G>A (p.Gln1651=) c.1180-4891G>A c.6318G>A (p.Gln2106=) c.4968G>A (p.Gln1656=) | dbSNP |
| 1 | g.207611684G>C | CA344544932 | CR1 | c.6303G>C (p.Gln2101His) c.4953G>C (p.Gln1651His) c.1180-4891G>C c.6318G>C (p.Gln2106His) c.4968G>C (p.Gln1656His) | |
| 1 | g.207611684G= | CA2483456524 | CR1 | c.6303G= (p.Gln2101=) c.4953G= (p.Gln1651=) c.1180-4891G= c.6318G= (p.Gln2106=) c.4968G= (p.Gln1656=) | |
| 1 | g.207611684G>T | CA344544933 | CR1 | c.6303G>T (p.Gln2101His) c.4953G>T (p.Gln1651His) c.1180-4891G>T c.6318G>T (p.Gln2106His) c.4968G>T (p.Gln1656His) | |
| 1 | g.207611685C>A | CA344544934 | CR1 | c.6304C>A (p.Pro2102Thr) c.4954C>A (p.Pro1652Thr) c.1180-4890C>A c.6319C>A (p.Pro2107Thr) c.4969C>A (p.Pro1657Thr) | |
| 1 | g.207611685C>G | CA344544935 | CR1 | c.6304C>G (p.Pro2102Ala) c.4954C>G (p.Pro1652Ala) c.1180-4890C>G c.6319C>G (p.Pro2107Ala) c.4969C>G (p.Pro1657Ala) | |
| 1 | g.207611685C>T | CA344544936 | CR1 | c.6304C>T (p.Pro2102Ser) c.4954C>T (p.Pro1652Ser) c.1180-4890C>T c.6319C>T (p.Pro2107Ser) c.4969C>T (p.Pro1657Ser) | gnomAD v4 |
| 1 | g.207611686C>A | CA344544937 | CR1 | c.6305C>A (p.Pro2102Gln) c.4955C>A (p.Pro1652Gln) c.1180-4889C>A c.6320C>A (p.Pro2107Gln) c.4970C>A (p.Pro1657Gln) | |
| 1 | g.207611686C= | CA1146808341 | CR1 | c.6305C= (p.Pro2102=) c.4955C= (p.Pro1652=) c.1180-4889C= c.6320C= (p.Pro2107=) c.4970C= (p.Pro1657=) | |
| 1 | g.207611686C>G | CA344544938 | CR1 | c.6305C>G (p.Pro2102Arg) c.4955C>G (p.Pro1652Arg) c.1180-4889C>G c.6320C>G (p.Pro2107Arg) c.4970C>G (p.Pro1657Arg) | |
| 1 | g.207611686C>T | CA1370416 | CR1 | c.6305C>T (p.Pro2102Leu) c.4955C>T (p.Pro1652Leu) c.1180-4889C>T c.6320C>T (p.Pro2107Leu) c.4970C>T (p.Pro1657Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.207611687G>A | CA1370417 | CR1 | c.6306G>A (p.Pro2102=) c.4956G>A (p.Pro1652=) c.1180-4888G>A c.6321G>A (p.Pro2107=) c.4971G>A (p.Pro1657=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.207611687G>C | CA422972677 | CR1 | c.6306G>C (p.Pro2102=) c.4956G>C (p.Pro1652=) c.1180-4888G>C c.6321G>C (p.Pro2107=) c.4971G>C (p.Pro1657=) | |
| 1 | g.207611687G= | CA2483456525 | CR1 | c.6306G= (p.Pro2102=) c.4956G= (p.Pro1652=) c.1180-4888G= c.6321G= (p.Pro2107=) c.4971G= (p.Pro1657=) | |
| 1 | g.207611687G>T | CA422972679 | CR1 | c.6306G>T (p.Pro2102=) c.4956G>T (p.Pro1652=) c.1180-4888G>T c.6321G>T (p.Pro2107=) c.4971G>T (p.Pro1657=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611688C>A | CA344544939 | CR1 | c.6307C>A (p.Pro2103Thr) c.4957C>A (p.Pro1653Thr) c.1180-4887C>A c.6322C>A (p.Pro2108Thr) c.4972C>A (p.Pro1658Thr) | |
| 1 | g.207611688C>G | CA344544941 | CR1 | c.6307C>G (p.Pro2103Ala) c.4957C>G (p.Pro1653Ala) c.1180-4887C>G c.6322C>G (p.Pro2108Ala) c.4972C>G (p.Pro1658Ala) | |
| 1 | g.207611688C>T | CA344544940 | CR1 | c.6307C>T (p.Pro2103Ser) c.4957C>T (p.Pro1653Ser) c.1180-4887C>T c.6322C>T (p.Pro2108Ser) c.4972C>T (p.Pro1658Ser) | |
| 1 | g.207611689C>A | CA344544942 | CR1 | c.6308C>A (p.Pro2103His) c.4958C>A (p.Pro1653His) c.1180-4886C>A c.6323C>A (p.Pro2108His) c.4973C>A (p.Pro1658His) | COSMIC COSMIC |
| 1 | g.207611689C>G | CA344544943 | CR1 | c.6308C>G (p.Pro2103Arg) c.4958C>G (p.Pro1653Arg) c.1180-4886C>G c.6323C>G (p.Pro2108Arg) c.4973C>G (p.Pro1658Arg) | |
| 1 | g.207611689C>T | CA344544944 | CR1 | c.6308C>T (p.Pro2103Leu) c.4958C>T (p.Pro1653Leu) c.1180-4886C>T c.6323C>T (p.Pro2108Leu) c.4973C>T (p.Pro1658Leu) | |
| 1 | g.207611690T>A | CA422972688 | CR1 | c.6309T>A (p.Pro2103=) c.4959T>A (p.Pro1653=) c.1180-4885T>A c.6324T>A (p.Pro2108=) c.4974T>A (p.Pro1658=) | |
| 1 | g.207611690T>C | CA422972689 | CR1 | c.6309T>C (p.Pro2103=) c.4959T>C (p.Pro1653=) c.1180-4885T>C c.6324T>C (p.Pro2108=) c.4974T>C (p.Pro1658=) | |
| 1 | g.207611690T>G | CA422972691 | CR1 | c.6309T>G (p.Pro2103=) c.4959T>G (p.Pro1653=) c.1180-4885T>G c.6324T>G (p.Pro2108=) c.4974T>G (p.Pro1658=) | |
| 1 | g.207611691C>A | CA344544945 | CR1 | c.6310C>A (p.Pro2104Thr) c.4960C>A (p.Pro1654Thr) c.1180-4884C>A c.6325C>A (p.Pro2109Thr) c.4975C>A (p.Pro1659Thr) | |
| 1 | g.207611691C= | CA1148411481 | CR1 | c.6310C= (p.Pro2104=) c.4960C= (p.Pro1654=) c.1180-4884C= c.6325C= (p.Pro2109=) c.4975C= (p.Pro1659=) | |
| 1 | g.207611691C>G | CA344544946 | CR1 | c.6310C>G (p.Pro2104Ala) c.4960C>G (p.Pro1654Ala) c.1180-4884C>G c.6325C>G (p.Pro2109Ala) c.4975C>G (p.Pro1659Ala) | |
| 1 | g.207611691C>T | CA1370418 | CR1 | c.6310C>T (p.Pro2104Ser) c.4960C>T (p.Pro1654Ser) c.1180-4884C>T c.6325C>T (p.Pro2109Ser) c.4975C>T (p.Pro1659Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611692C>A | CA344544947 | CR1 | c.6311C>A (p.Pro2104Gln) c.4961C>A (p.Pro1654Gln) c.1180-4883C>A c.6326C>A (p.Pro2109Gln) c.4976C>A (p.Pro1659Gln) | |
| 1 | g.207611692C>G | CA344544948 | CR1 | c.6311C>G (p.Pro2104Arg) c.4961C>G (p.Pro1654Arg) c.1180-4883C>G c.6326C>G (p.Pro2109Arg) c.4976C>G (p.Pro1659Arg) | |
| 1 | g.207611692C>T | CA344544949 | CR1 | c.6311C>T (p.Pro2104Leu) c.4961C>T (p.Pro1654Leu) c.1180-4883C>T c.6326C>T (p.Pro2109Leu) c.4976C>T (p.Pro1659Leu) | |
| 1 | g.207611693A>C | CA422972699 | CR1 | c.6312A>C (p.Pro2104=) c.4962A>C (p.Pro1654=) c.1180-4882A>C c.6327A>C (p.Pro2109=) c.4977A>C (p.Pro1659=) | |
| 1 | g.207611693A>G | CA422972701 | CR1 | c.6312A>G (p.Pro2104=) c.4962A>G (p.Pro1654=) c.1180-4882A>G c.6327A>G (p.Pro2109=) c.4977A>G (p.Pro1659=) | |
| 1 | g.207611693A>T | CA422972703 | CR1 | c.6312A>T (p.Pro2104=) c.4962A>T (p.Pro1654=) c.1180-4882A>T c.6327A>T (p.Pro2109=) c.4977A>T (p.Pro1659=) | |
| 1 | g.207611694del | CA645524141 | CR1 | c.6313del (p.Glu2105LysfsTer9) c.4963del (p.Glu1655LysfsTer9) c.1180-4881del c.6328del (p.Glu2110LysfsTer9) c.4978del (p.Glu1660LysfsTer9) | COSMIC COSMIC |
| 1 | g.207611694G>A | CA344544950 | CR1 | c.6313G>A (p.Glu2105Lys) c.4963G>A (p.Glu1655Lys) c.1180-4881G>A c.6328G>A (p.Glu2110Lys) c.4978G>A (p.Glu1660Lys) | gnomAD v4 |
| 1 | g.207611694G>C | CA344544951 | CR1 | c.6313G>C (p.Glu2105Gln) c.4963G>C (p.Glu1655Gln) c.1180-4881G>C c.6328G>C (p.Glu2110Gln) c.4978G>C (p.Glu1660Gln) | |
| 1 | g.207611694G>T | CA344544952 | CR1 | c.6313G>T (p.Glu2105Ter) c.4963G>T (p.Glu1655Ter) c.1180-4881G>T c.6328G>T (p.Glu2110Ter) c.4978G>T (p.Glu1660Ter) | |
| 1 | g.207611695A= | CA2483456526 | CR1 | c.6314A= (p.Glu2105=) c.4964A= (p.Glu1655=) c.1180-4880A= c.6329A= (p.Glu2110=) c.4979A= (p.Glu1660=) | |
| 1 | g.207611695A>C | CA344544955 | CR1 | c.6314A>C (p.Glu2105Ala) c.4964A>C (p.Glu1655Ala) c.1180-4880A>C c.6329A>C (p.Glu2110Ala) c.4979A>C (p.Glu1660Ala) | |
| 1 | g.207611695A>G | CA344544953 | CR1 | c.6314A>G (p.Glu2105Gly) c.4964A>G (p.Glu1655Gly) c.1180-4880A>G c.6329A>G (p.Glu2110Gly) c.4979A>G (p.Glu1660Gly) | dbSNP |
| 1 | g.207611695A>T | CA344544954 | CR1 | c.6314A>T (p.Glu2105Val) c.4964A>T (p.Glu1655Val) c.1180-4880A>T c.6329A>T (p.Glu2110Val) c.4979A>T (p.Glu1660Val) | gnomAD v4 |
| 1 | g.207611696A= | CA2483456527 | CR1 | c.6315A= (p.Glu2105=) c.4965A= (p.Glu1655=) c.1180-4879A= c.6330A= (p.Glu2110=) c.4980A= (p.Glu1660=) | |
| 1 | g.207611696A>C | CA344544956 | CR1 | c.6315A>C (p.Glu2105Asp) c.4965A>C (p.Glu1655Asp) c.1180-4879A>C c.6330A>C (p.Glu2110Asp) c.4980A>C (p.Glu1660Asp) | |
| 1 | g.207611696A>G | CA422972716 | CR1 | c.6315A>G (p.Glu2105=) c.4965A>G (p.Glu1655=) c.1180-4879A>G c.6330A>G (p.Glu2110=) c.4980A>G (p.Glu1660=) | |
| 1 | g.207611696A>T | CA344544957 | CR1 | c.6315A>T (p.Glu2105Asp) c.4965A>T (p.Glu1655Asp) c.1180-4879A>T c.6330A>T (p.Glu2110Asp) c.4980A>T (p.Glu1660Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611697A>C | CA344544958 | CR1 | c.6316A>C (p.Ile2106Leu) c.4966A>C (p.Ile1656Leu) c.1180-4878A>C c.6331A>C (p.Ile2111Leu) c.4981A>C (p.Ile1661Leu) | |
| 1 | g.207611697A>G | CA344544959 | CR1 | c.6316A>G (p.Ile2106Val) c.4966A>G (p.Ile1656Val) c.1180-4878A>G c.6331A>G (p.Ile2111Val) c.4981A>G (p.Ile1661Val) | |
| 1 | g.207611697A>T | CA344544960 | CR1 | c.6316A>T (p.Ile2106Phe) c.4966A>T (p.Ile1656Phe) c.1180-4878A>T c.6331A>T (p.Ile2111Phe) c.4981A>T (p.Ile1661Phe) | |
| 1 | g.207611698T>A | CA344544961 | CR1 | c.6317T>A (p.Ile2106Asn) c.4967T>A (p.Ile1656Asn) c.1180-4877T>A c.6332T>A (p.Ile2111Asn) c.4982T>A (p.Ile1661Asn) | |
| 1 | g.207611698T>C | CA344544962 | CR1 | c.6317T>C (p.Ile2106Thr) c.4967T>C (p.Ile1656Thr) c.1180-4877T>C c.6332T>C (p.Ile2111Thr) c.4982T>C (p.Ile1661Thr) | |
| 1 | g.207611698T>G | CA344544963 | CR1 | c.6317T>G (p.Ile2106Ser) c.4967T>G (p.Ile1656Ser) c.1180-4877T>G c.6332T>G (p.Ile2111Ser) c.4982T>G (p.Ile1661Ser) | |
| 1 | g.207611699C>A | CA422972723 | CR1 | c.6318C>A (p.Ile2106=) c.4968C>A (p.Ile1656=) c.1180-4876C>A c.6333C>A (p.Ile2111=) c.4983C>A (p.Ile1661=) | |
| 1 | g.207611699C>G | CA344544964 | CR1 | c.6318C>G (p.Ile2106Met) c.4968C>G (p.Ile1656Met) c.1180-4876C>G c.6333C>G (p.Ile2111Met) c.4983C>G (p.Ile1661Met) | |
| 1 | g.207611699C>T | CA422972726 | CR1 | c.6318C>T (p.Ile2106=) c.4968C>T (p.Ile1656=) c.1180-4876C>T c.6333C>T (p.Ile2111=) c.4983C>T (p.Ile1661=) | COSMIC COSMIC |
| 1 | g.207611700C>A | CA344544965 | CR1 | c.6319C>A (p.Leu2107Met) c.4969C>A (p.Leu1657Met) c.1180-4875C>A c.6334C>A (p.Leu2112Met) c.4984C>A (p.Leu1662Met) | COSMIC COSMIC |
| 1 | g.207611700C>G | CA344544966 | CR1 | c.6319C>G (p.Leu2107Val) c.4969C>G (p.Leu1657Val) c.1180-4875C>G c.6334C>G (p.Leu2112Val) c.4984C>G (p.Leu1662Val) | |
| 1 | g.207611700C>T | CA422972728 | CR1 | c.6319C>T (p.Leu2107=) c.4969C>T (p.Leu1657=) c.1180-4875C>T c.6334C>T (p.Leu2112=) c.4984C>T (p.Leu1662=) | |
| 1 | g.207611701T>A | CA344544969 | CR1 | c.6320T>A (p.Leu2107Gln) c.4970T>A (p.Leu1657Gln) c.1180-4874T>A c.6335T>A (p.Leu2112Gln) c.4985T>A (p.Leu1662Gln) | |
| 1 | g.207611701T>C | CA344544968 | CR1 | c.6320T>C (p.Leu2107Pro) c.4970T>C (p.Leu1657Pro) c.1180-4874T>C c.6335T>C (p.Leu2112Pro) c.4985T>C (p.Leu1662Pro) | |
| 1 | g.207611701T>G | CA344544967 | CR1 | c.6320T>G (p.Leu2107Arg) c.4970T>G (p.Leu1657Arg) c.1180-4874T>G c.6335T>G (p.Leu2112Arg) c.4985T>G (p.Leu1662Arg) | |
| 1 | g.207611702G>A | CA422972738 | CR1 | c.6321G>A (p.Leu2107=) c.4971G>A (p.Leu1657=) c.1180-4873G>A c.6336G>A (p.Leu2112=) c.4986G>A (p.Leu1662=) | |
| 1 | g.207611702G>C | CA422972737 | CR1 | c.6321G>C (p.Leu2107=) c.4971G>C (p.Leu1657=) c.1180-4873G>C c.6336G>C (p.Leu2112=) c.4986G>C (p.Leu1662=) | |
| 1 | g.207611702G>T | CA422972735 | CR1 | c.6321G>T (p.Leu2107=) c.4971G>T (p.Leu1657=) c.1180-4873G>T c.6336G>T (p.Leu2112=) c.4986G>T (p.Leu1662=) | gnomAD v4 |
| 1 | g.207611703C>A | CA344544970 | CR1 | c.6322C>A (p.His2108Asn) c.4972C>A (p.His1658Asn) c.1180-4872C>A c.6337C>A (p.His2113Asn) c.4987C>A (p.His1663Asn) | |
| 1 | g.207611703C= | CA2483456528 | CR1 | c.6322C= (p.His2108=) c.4972C= (p.His1658=) c.1180-4872C= c.6337C= (p.His2113=) c.4987C= (p.His1663=) | |
| 1 | g.207611703C>G | CA344544971 | CR1 | c.6322C>G (p.His2108Asp) c.4972C>G (p.His1658Asp) c.1180-4872C>G c.6337C>G (p.His2113Asp) c.4987C>G (p.His1663Asp) | |
| 1 | g.207611703C>T | CA1370419 | CR1 | c.6322C>T (p.His2108Tyr) c.4972C>T (p.His1658Tyr) c.1180-4872C>T c.6337C>T (p.His2113Tyr) c.4987C>T (p.His1663Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207611704A= | CA2483456529 | CR1 | c.6323A= (p.His2108=) c.4973A= (p.His1658=) c.1180-4871A= c.6338A= (p.His2113=) c.4988A= (p.His1663=) | |
| 1 | g.207611704A>C | CA344544972 | CR1 | c.6323A>C (p.His2108Pro) c.4973A>C (p.His1658Pro) c.1180-4871A>C c.6338A>C (p.His2113Pro) c.4988A>C (p.His1663Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611704A>G | CA344544973 | CR1 | c.6323A>G (p.His2108Arg) c.4973A>G (p.His1658Arg) c.1180-4871A>G c.6338A>G (p.His2113Arg) c.4988A>G (p.His1663Arg) | |
| 1 | g.207611704A>T | CA344544974 | CR1 | c.6323A>T (p.His2108Leu) c.4973A>T (p.His1658Leu) c.1180-4871A>T c.6338A>T (p.His2113Leu) c.4988A>T (p.His1663Leu) | |
| 1 | g.207611705T>A | CA344544976 | CR1 | c.6324T>A (p.His2108Gln) c.4974T>A (p.His1658Gln) c.1180-4870T>A c.6339T>A (p.His2113Gln) c.4989T>A (p.His1663Gln) | gnomAD v4 |
| 1 | g.207611705T>C | CA422972746 | CR1 | c.6324T>C (p.His2108=) c.4974T>C (p.His1658=) c.1180-4870T>C c.6339T>C (p.His2113=) c.4989T>C (p.His1663=) | |
| 1 | g.207611705T>G | CA344544975 | CR1 | c.6324T>G (p.His2108Gln) c.4974T>G (p.His1658Gln) c.1180-4870T>G c.6339T>G (p.His2113Gln) c.4989T>G (p.His1663Gln) | |
| 1 | g.207611706G>A | CA1370420 | CR1 | c.6325G>A (p.Gly2109Ser) c.4975G>A (p.Gly1659Ser) c.1180-4869G>A c.6340G>A (p.Gly2114Ser) c.4990G>A (p.Gly1664Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611706G>C | CA344544977 | CR1 | c.6325G>C (p.Gly2109Arg) c.4975G>C (p.Gly1659Arg) c.1180-4869G>C c.6340G>C (p.Gly2114Arg) c.4990G>C (p.Gly1664Arg) | |
| 1 | g.207611706G= | CA1143636124 | CR1 | c.6325G= (p.Gly2109=) c.4975G= (p.Gly1659=) c.1180-4869G= c.6340G= (p.Gly2114=) c.4990G= (p.Gly1664=) | |
| 1 | g.207611706G>T | CA344544978 | CR1 | c.6325G>T (p.Gly2109Cys) c.4975G>T (p.Gly1659Cys) c.1180-4869G>T c.6340G>T (p.Gly2114Cys) c.4990G>T (p.Gly1664Cys) | |
| 1 | g.207611707G>A | CA344544979 | CR1 | c.6326G>A (p.Gly2109Asp) c.4976G>A (p.Gly1659Asp) c.1180-4868G>A c.6341G>A (p.Gly2114Asp) c.4991G>A (p.Gly1664Asp) | gnomAD v4 |
| 1 | g.207611707G>C | CA344544980 | CR1 | c.6326G>C (p.Gly2109Ala) c.4976G>C (p.Gly1659Ala) c.1180-4868G>C c.6341G>C (p.Gly2114Ala) c.4991G>C (p.Gly1664Ala) | |
| 1 | g.207611707G>T | CA344544981 | CR1 | c.6326G>T (p.Gly2109Val) c.4976G>T (p.Gly1659Val) c.1180-4868G>T c.6341G>T (p.Gly2114Val) c.4991G>T (p.Gly1664Val) | COSMIC COSMIC |
| 1 | g.207611708T>A | CA422972756 | CR1 | c.6327T>A (p.Gly2109=) c.4977T>A (p.Gly1659=) c.1180-4867T>A c.6342T>A (p.Gly2114=) c.4992T>A (p.Gly1664=) | dbSNP |
| 1 | g.207611708T>C | CA422972753 | CR1 | c.6327T>C (p.Gly2109=) c.4977T>C (p.Gly1659=) c.1180-4867T>C c.6342T>C (p.Gly2114=) c.4992T>C (p.Gly1664=) | |
| 1 | g.207611708T>G | CA422972754 | CR1 | c.6327T>G (p.Gly2109=) c.4977T>G (p.Gly1659=) c.1180-4867T>G c.6342T>G (p.Gly2114=) c.4992T>G (p.Gly1664=) | |
| 1 | g.207611708T= | CA2483456530 | CR1 | c.6327T= (p.Gly2109=) c.4977T= (p.Gly1659=) c.1180-4867T= c.6342T= (p.Gly2114=) c.4992T= (p.Gly1664=) | |
| 1 | g.207611709G>A | CA344544982 | CR1 | c.6328G>A (p.Glu2110Lys) c.4978G>A (p.Glu1660Lys) c.1180-4866G>A c.6343G>A (p.Glu2115Lys) c.4993G>A (p.Glu1665Lys) | |
| 1 | g.207611709G>C | CA344544984 | CR1 | c.6328G>C (p.Glu2110Gln) c.4978G>C (p.Glu1660Gln) c.1180-4866G>C c.6343G>C (p.Glu2115Gln) c.4993G>C (p.Glu1665Gln) | |
| 1 | g.207611709G>T | CA344544983 | CR1 | c.6328G>T (p.Glu2110Ter) c.4978G>T (p.Glu1660Ter) c.1180-4866G>T c.6343G>T (p.Glu2115Ter) c.4993G>T (p.Glu1665Ter) | |
| 1 | g.207611710A>C | CA344544985 | CR1 | c.6329A>C (p.Glu2110Ala) c.4979A>C (p.Glu1660Ala) c.1180-4865A>C c.6344A>C (p.Glu2115Ala) c.4994A>C (p.Glu1665Ala) | |
| 1 | g.207611710A>G | CA344544986 | CR1 | c.6329A>G (p.Glu2110Gly) c.4979A>G (p.Glu1660Gly) c.1180-4865A>G c.6344A>G (p.Glu2115Gly) c.4994A>G (p.Glu1665Gly) | |
| 1 | g.207611710A>T | CA344544987 | CR1 | c.6329A>T (p.Glu2110Val) c.4979A>T (p.Glu1660Val) c.1180-4865A>T c.6344A>T (p.Glu2115Val) c.4994A>T (p.Glu1665Val) | |
| 1 | g.207611711G>A | CA422972764 | CR1 | c.6330G>A (p.Glu2110=) c.4980G>A (p.Glu1660=) c.1180-4864G>A c.6345G>A (p.Glu2115=) c.4995G>A (p.Glu1665=) | |
| 1 | g.207611711G>C | CA344544988 | CR1 | c.6330G>C (p.Glu2110Asp) c.4980G>C (p.Glu1660Asp) c.1180-4864G>C c.6345G>C (p.Glu2115Asp) c.4995G>C (p.Glu1665Asp) | |
| 1 | g.207611711G>T | CA344544989 | CR1 | c.6330G>T (p.Glu2110Asp) c.4980G>T (p.Glu1660Asp) c.1180-4864G>T c.6345G>T (p.Glu2115Asp) c.4995G>T (p.Glu1665Asp) | |
| 1 | g.207611712C>A | CA344544990 | CR1 | c.6331C>A (p.His2111Asn) c.4981C>A (p.His1661Asn) c.1180-4863C>A c.6346C>A (p.His2116Asn) c.4996C>A (p.His1666Asn) | gnomAD v4 |
| 1 | g.207611712C>G | CA344544991 | CR1 | c.6331C>G (p.His2111Asp) c.4981C>G (p.His1661Asp) c.1180-4863C>G c.6346C>G (p.His2116Asp) c.4996C>G (p.His1666Asp) | |
| 1 | g.207611712C>T | CA344544992 | CR1 | c.6331C>T (p.His2111Tyr) c.4981C>T (p.His1661Tyr) c.1180-4863C>T c.6346C>T (p.His2116Tyr) c.4996C>T (p.His1666Tyr) | |
| 1 | g.207611713A= | CA1149115085 | CR1 | c.6332A= (p.His2111=) c.4982A= (p.His1661=) c.1180-4862A= c.6347A= (p.His2116=) c.4997A= (p.His1666=) | |
| 1 | g.207611713A>C | CA344544993 | CR1 | c.6332A>C (p.His2111Pro) c.4982A>C (p.His1661Pro) c.1180-4862A>C c.6347A>C (p.His2116Pro) c.4997A>C (p.His1666Pro) | |
| 1 | g.207611713A>G | CA1370421 | CR1 | c.6332A>G (p.His2111Arg) c.4982A>G (p.His1661Arg) c.1180-4862A>G c.6347A>G (p.His2116Arg) c.4997A>G (p.His1666Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207611713A>T | CA344544994 | CR1 | c.6332A>T (p.His2111Leu) c.4982A>T (p.His1661Leu) c.1180-4862A>T c.6347A>T (p.His2116Leu) c.4997A>T (p.His1666Leu) | |
| 1 | g.207611714T>A | CA344544996 | CR1 | c.6333T>A (p.His2111Gln) c.4983T>A (p.His1661Gln) c.1180-4861T>A c.6348T>A (p.His2116Gln) c.4998T>A (p.His1666Gln) | |
| 1 | g.207611714T>C | CA422972777 | CR1 | c.6333T>C (p.His2111=) c.4983T>C (p.His1661=) c.1180-4861T>C c.6348T>C (p.His2116=) c.4998T>C (p.His1666=) | |
| 1 | g.207611714T>G | CA344544995 | CR1 | c.6333T>G (p.His2111Gln) c.4983T>G (p.His1661Gln) c.1180-4861T>G c.6348T>G (p.His2116Gln) c.4998T>G (p.His1666Gln) | |
| 1 | g.207611715A>C | CA344544997 | CR1 | c.6334A>C (p.Thr2112Pro) c.4984A>C (p.Thr1662Pro) c.1180-4860A>C c.6349A>C (p.Thr2117Pro) c.4999A>C (p.Thr1667Pro) | |
| 1 | g.207611715A>G | CA344544999 | CR1 | c.6334A>G (p.Thr2112Ala) c.4984A>G (p.Thr1662Ala) c.1180-4860A>G c.6349A>G (p.Thr2117Ala) c.4999A>G (p.Thr1667Ala) | |
| 1 | g.207611715A>T | CA344544998 | CR1 | c.6334A>T (p.Thr2112Ser) c.4984A>T (p.Thr1662Ser) c.1180-4860A>T c.6349A>T (p.Thr2117Ser) c.4999A>T (p.Thr1667Ser) | |
| 1 | g.207611715_207611716delinsAC | CA2483456531 | CR1 | c.6334_6335delinsAC (p.Thr2112=) c.4984_4985delinsAC (p.Thr1662=) c.1180-4860_1180-4859delinsAC c.6349_6350delinsAC (p.Thr2117=) c.4999_5000delinsAC (p.Thr1667=) | |
| 1 | g.207611716C>A | CA344545000 | CR1 | c.6335C>A (p.Thr2112Asn) c.4985C>A (p.Thr1662Asn) c.1180-4859C>A c.6350C>A (p.Thr2117Asn) c.5000C>A (p.Thr1667Asn) | gnomAD v4 |
| 1 | g.207611716C= | CA2483456532 | CR1 | c.6335C= (p.Thr2112=) c.4985C= (p.Thr1662=) c.1180-4859C= c.6350C= (p.Thr2117=) c.5000C= (p.Thr1667=) | |
| 1 | g.207611716C>G | CA344545001 | CR1 | c.6335C>G (p.Thr2112Ser) c.4985C>G (p.Thr1662Ser) c.1180-4859C>G c.6350C>G (p.Thr2117Ser) c.5000C>G (p.Thr1667Ser) | |
| 1 | g.207611716C>T | CA344545002 | CR1 | c.6335C>T (p.Thr2112Ile) c.4985C>T (p.Thr1662Ile) c.1180-4859C>T c.6350C>T (p.Thr2117Ile) c.5000C>T (p.Thr1667Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207611718del | CA528999500 | CR1 | c.6337del (p.Leu2113Ter) c.4987del (p.Leu1663Ter) c.1180-4857del c.6352del (p.Leu2118Ter) c.5002del (p.Leu1668Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207611717C>A | CA422972784 | CR1 | c.6336C>A (p.Thr2112=) c.4986C>A (p.Thr1662=) c.1180-4858C>A c.6351C>A (p.Thr2117=) c.5001C>A (p.Thr1667=) | |
| 1 | g.207611717C>G | CA422972785 | CR1 | c.6336C>G (p.Thr2112=) c.4986C>G (p.Thr1662=) c.1180-4858C>G c.6351C>G (p.Thr2117=) c.5001C>G (p.Thr1667=) | |
| 1 | g.207611717C>T | CA422972787 | CR1 | c.6336C>T (p.Thr2112=) c.4986C>T (p.Thr1662=) c.1180-4858C>T c.6351C>T (p.Thr2117=) c.5001C>T (p.Thr1667=) | |
| 1 | g.207611718C>A | CA344545003 | CR1 | c.6337C>A (p.Leu2113Ile) c.4987C>A (p.Leu1663Ile) c.1180-4857C>A c.6352C>A (p.Leu2118Ile) c.5002C>A (p.Leu1668Ile) | |
| 1 | g.207611718C>G | CA344545004 | CR1 | c.6337C>G (p.Leu2113Val) c.4987C>G (p.Leu1663Val) c.1180-4857C>G c.6352C>G (p.Leu2118Val) c.5002C>G (p.Leu1668Val) | gnomAD v4 |
| 1 | g.207611718C>T | CA422972790 | CR1 | c.6337C>T (p.Leu2113=) c.4987C>T (p.Leu1663=) c.1180-4857C>T c.6352C>T (p.Leu2118=) c.5002C>T (p.Leu1668=) | COSMIC COSMIC |
| 1 | g.207611719T>A | CA344545005 | CR1 | c.6338T>A (p.Leu2113Gln) c.4988T>A (p.Leu1663Gln) c.1180-4856T>A c.6353T>A (p.Leu2118Gln) c.5003T>A (p.Leu1668Gln) | gnomAD v4 |
| 1 | g.207611719T>C | CA344545006 | CR1 | c.6338T>C (p.Leu2113Pro) c.4988T>C (p.Leu1663Pro) c.1180-4856T>C c.6353T>C (p.Leu2118Pro) c.5003T>C (p.Leu1668Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207611719T>G | CA344545007 | CR1 | c.6338T>G (p.Leu2113Arg) c.4988T>G (p.Leu1663Arg) c.1180-4856T>G c.6353T>G (p.Leu2118Arg) c.5003T>G (p.Leu1668Arg) | |
| 1 | g.207611719T= | CA2483456533 | CR1 | c.6338T= (p.Leu2113=) c.4988T= (p.Leu1663=) c.1180-4856T= c.6353T= (p.Leu2118=) c.5003T= (p.Leu1668=) | |
| 1 | g.207611720A>C | CA422972795 | CR1 | c.6339A>C (p.Leu2113=) c.4989A>C (p.Leu1663=) c.1180-4855A>C c.6354A>C (p.Leu2118=) c.5004A>C (p.Leu1668=) | |
| 1 | g.207611720A>G | CA422972797 | CR1 | c.6339A>G (p.Leu2113=) c.4989A>G (p.Leu1663=) c.1180-4855A>G c.6354A>G (p.Leu2118=) c.5004A>G (p.Leu1668=) | |
| 1 | g.207611720A>T | CA422972798 | CR1 | c.6339A>T (p.Leu2113=) c.4989A>T (p.Leu1663=) c.1180-4855A>T c.6354A>T (p.Leu2118=) c.5004A>T (p.Leu1668=) | |
| 1 | g.207611721A>C | CA344545008 | CR1 | c.6340A>C (p.Ser2114Arg) c.4990A>C (p.Ser1664Arg) c.1180-4854A>C c.6355A>C (p.Ser2119Arg) c.5005A>C (p.Ser1669Arg) | |
| 1 | g.207611721A>G | CA344545009 | CR1 | c.6340A>G (p.Ser2114Gly) c.4990A>G (p.Ser1664Gly) c.1180-4854A>G c.6355A>G (p.Ser2119Gly) c.5005A>G (p.Ser1669Gly) | |
| 1 | g.207611721A>T | CA344545010 | CR1 | c.6340A>T (p.Ser2114Cys) c.4990A>T (p.Ser1664Cys) c.1180-4854A>T c.6355A>T (p.Ser2119Cys) c.5005A>T (p.Ser1669Cys) | |
| 1 | g.207611722G>A | CA344545011 | CR1 | c.6341G>A (p.Ser2114Asn) c.4991G>A (p.Ser1664Asn) c.1180-4853G>A c.6356G>A (p.Ser2119Asn) c.5006G>A (p.Ser1669Asn) | |
| 1 | g.207611722G>C | CA344545012 | CR1 | c.6341G>C (p.Ser2114Thr) c.4991G>C (p.Ser1664Thr) c.1180-4853G>C c.6356G>C (p.Ser2119Thr) c.5006G>C (p.Ser1669Thr) | |
| 1 | g.207611722G>T | CA344545013 | CR1 | c.6341G>T (p.Ser2114Ile) c.4991G>T (p.Ser1664Ile) c.1180-4853G>T c.6356G>T (p.Ser2119Ile) c.5006G>T (p.Ser1669Ile) | |
| 1 | g.207611723C>A | CA344545014 | CR1 | c.6342C>A (p.Ser2114Arg) c.4992C>A (p.Ser1664Arg) c.1180-4852C>A c.6357C>A (p.Ser2119Arg) c.5007C>A (p.Ser1669Arg) | |
| 1 | g.207611723C>G | CA344545015 | CR1 | c.6342C>G (p.Ser2114Arg) c.4992C>G (p.Ser1664Arg) c.1180-4852C>G c.6357C>G (p.Ser2119Arg) c.5007C>G (p.Ser1669Arg) | |
| 1 | g.207611723C>T | CA422972808 | CR1 | c.6342C>T (p.Ser2114=) c.4992C>T (p.Ser1664=) c.1180-4852C>T c.6357C>T (p.Ser2119=) c.5007C>T (p.Ser1669=) | |
| 1 | g.207611724C>A | CA344545016 | CR1 | c.6343C>A (p.His2115Asn) c.4993C>A (p.His1665Asn) c.1180-4851C>A c.6358C>A (p.His2120Asn) c.5008C>A (p.His1670Asn) | |
| 1 | g.207611724C>G | CA344545017 | CR1 | c.6343C>G (p.His2115Asp) c.4993C>G (p.His1665Asp) c.1180-4851C>G c.6358C>G (p.His2120Asp) c.5008C>G (p.His1670Asp) | |
| 1 | g.207611724C>T | CA344545018 | CR1 | c.6343C>T (p.His2115Tyr) c.4993C>T (p.His1665Tyr) c.1180-4851C>T c.6358C>T (p.His2120Tyr) c.5008C>T (p.His1670Tyr) | gnomAD v3 gnomAD v4 |
| 1 | g.207611725A>C | CA344545019 | CR1 | c.6344A>C (p.His2115Pro) c.4994A>C (p.His1665Pro) c.1180-4850A>C c.6359A>C (p.His2120Pro) c.5009A>C (p.His1670Pro) | |
| 1 | g.207611725A>G | CA344545020 | CR1 | c.6344A>G (p.His2115Arg) c.4994A>G (p.His1665Arg) c.1180-4850A>G c.6359A>G (p.His2120Arg) c.5009A>G (p.His1670Arg) | |
| 1 | g.207611725A>T | CA344545021 | CR1 | c.6344A>T (p.His2115Leu) c.4994A>T (p.His1665Leu) c.1180-4850A>T c.6359A>T (p.His2120Leu) c.5009A>T (p.His1670Leu) | |
| 1 | g.207611726T>A | CA344545022 | CR1 | c.6345T>A (p.His2115Gln) c.4995T>A (p.His1665Gln) c.1180-4849T>A c.6360T>A (p.His2120Gln) c.5010T>A (p.His1670Gln) | |
| 1 | g.207611726T>C | CA422972817 | CR1 | c.6345T>C (p.His2115=) c.4995T>C (p.His1665=) c.1180-4849T>C c.6360T>C (p.His2120=) c.5010T>C (p.His1670=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207611726T>G | CA344545023 | CR1 | c.6345T>G (p.His2115Gln) c.4995T>G (p.His1665Gln) c.1180-4849T>G c.6360T>G (p.His2120Gln) c.5010T>G (p.His1670Gln) | |
| 1 | g.207611726T= | CA2483456534 | CR1 | c.6345T= (p.His2115=) c.4995T= (p.His1665=) c.1180-4849T= c.6360T= (p.His2120=) c.5010T= (p.His1670=) | |
| 1 | g.207611727C>A | CA344545024 | CR1 | c.6346C>A (p.Gln2116Lys) c.4996C>A (p.Gln1666Lys) c.1180-4848C>A c.6361C>A (p.Gln2121Lys) c.5011C>A (p.Gln1671Lys) | |
| 1 | g.207611727C= | CA2483456535 | CR1 | c.6346C= (p.Gln2116=) c.4996C= (p.Gln1666=) c.1180-4848C= c.6361C= (p.Gln2121=) c.5011C= (p.Gln1671=) | |
| 1 | g.207611727C>G | CA36655196 | CR1 | c.6346C>G (p.Gln2116Glu) c.4996C>G (p.Gln1666Glu) c.1180-4848C>G c.6361C>G (p.Gln2121Glu) c.5011C>G (p.Gln1671Glu) | dbSNP |
| 1 | g.207611727C>T | CA36655198 | CR1 | c.6346C>T (p.Gln2116Ter) c.4996C>T (p.Gln1666Ter) c.1180-4848C>T c.6361C>T (p.Gln2121Ter) c.5011C>T (p.Gln1671Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611728A>C | CA344545027 | CR1 | c.6347A>C (p.Gln2116Pro) c.4997A>C (p.Gln1666Pro) c.1180-4847A>C c.6362A>C (p.Gln2121Pro) c.5012A>C (p.Gln1671Pro) | |
| 1 | g.207611728A>G | CA344545026 | CR1 | c.6347A>G (p.Gln2116Arg) c.4997A>G (p.Gln1666Arg) c.1180-4847A>G c.6362A>G (p.Gln2121Arg) c.5012A>G (p.Gln1671Arg) | gnomAD v4 |
| 1 | g.207611728A>T | CA344545025 | CR1 | c.6347A>T (p.Gln2116Leu) c.4997A>T (p.Gln1666Leu) c.1180-4847A>T c.6362A>T (p.Gln2121Leu) c.5012A>T (p.Gln1671Leu) | |
| 1 | g.207611729G>A | CA1370422 | CR1 | c.6348G>A (p.Gln2116=) c.4998G>A (p.Gln1666=) c.1180-4846G>A c.6363G>A (p.Gln2121=) c.5013G>A (p.Gln1671=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207611729G>C | CA344545028 | CR1 | c.6348G>C (p.Gln2116His) c.4998G>C (p.Gln1666His) c.1180-4846G>C c.6363G>C (p.Gln2121His) c.5013G>C (p.Gln1671His) | |
| 1 | g.207611729G= | CA2483456536 | CR1 | c.6348G= (p.Gln2116=) c.4998G= (p.Gln1666=) c.1180-4846G= c.6363G= (p.Gln2121=) c.5013G= (p.Gln1671=) | |
| 1 | g.207611729G>T | CA344545029 | CR1 | c.6348G>T (p.Gln2116His) c.4998G>T (p.Gln1666His) c.1180-4846G>T c.6363G>T (p.Gln2121His) c.5013G>T (p.Gln1671His) | |
| 1 | g.207611730G>A | CA344545030 | CR1 | c.6349G>A (p.Asp2117Asn) c.4999G>A (p.Asp1667Asn) c.1180-4845G>A c.6364G>A (p.Asp2122Asn) c.5014G>A (p.Asp1672Asn) | gnomAD v4 |
| 1 | g.207611730G>C | CA344545031 | CR1 | c.6349G>C (p.Asp2117His) c.4999G>C (p.Asp1667His) c.1180-4845G>C c.6364G>C (p.Asp2122His) c.5014G>C (p.Asp1672His) | |
| 1 | g.207611730G>T | CA344545032 | CR1 | c.6349G>T (p.Asp2117Tyr) c.4999G>T (p.Asp1667Tyr) c.1180-4845G>T c.6364G>T (p.Asp2122Tyr) c.5014G>T (p.Asp1672Tyr) | |
| 1 | g.207611731A>C | CA344545035 | CR1 | c.6350A>C (p.Asp2117Ala) c.5000A>C (p.Asp1667Ala) c.1180-4844A>C c.6365A>C (p.Asp2122Ala) c.5015A>C (p.Asp1672Ala) | |
| 1 | g.207611731A>G | CA344545034 | CR1 | c.6350A>G (p.Asp2117Gly) c.5000A>G (p.Asp1667Gly) c.1180-4844A>G c.6365A>G (p.Asp2122Gly) c.5015A>G (p.Asp1672Gly) | gnomAD v4 |
| 1 | g.207611731A>T | CA344545033 | CR1 | c.6350A>T (p.Asp2117Val) c.5000A>T (p.Asp1667Val) c.1180-4844A>T c.6365A>T (p.Asp2122Val) c.5015A>T (p.Asp1672Val) | |
| 1 | g.207611733_207611735del | CA2650269920 | CR1 | c.6352_6354del (p.Asn2118del) c.5002_5004del (p.Asn1668del) c.1180-4842_1180-4840del c.6367_6369del (p.Asn2123del) c.5017_5019del (p.Asn1673del) | gnomAD v4 |
| 1 | g.207611732C>A | CA344545036 | CR1 | c.6351C>A (p.Asp2117Glu) c.5001C>A (p.Asp1667Glu) c.1180-4843C>A c.6366C>A (p.Asp2122Glu) c.5016C>A (p.Asp1672Glu) | |
| 1 | g.207611732C= | CA1147040781 | CR1 | c.6351C= (p.Asp2117=) c.5001C= (p.Asp1667=) c.1180-4843C= c.6366C= (p.Asp2122=) c.5016C= (p.Asp1672=) | |
| 1 | g.207611732C>G | CA344545037 | CR1 | c.6351C>G (p.Asp2117Glu) c.5001C>G (p.Asp1667Glu) c.1180-4843C>G c.6366C>G (p.Asp2122Glu) c.5016C>G (p.Asp1672Glu) | |
| 1 | g.207611732C>T | CA1370423 | CR1 | c.6351C>T (p.Asp2117=) c.5001C>T (p.Asp1667=) c.1180-4843C>T c.6366C>T (p.Asp2122=) c.5016C>T (p.Asp1672=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611733A>C | CA344545038 | CR1 | c.6352A>C (p.Asn2118His) c.5002A>C (p.Asn1668His) c.1180-4842A>C c.6367A>C (p.Asn2123His) c.5017A>C (p.Asn1673His) | |
| 1 | g.207611733A>G | CA344545039 | CR1 | c.6352A>G (p.Asn2118Asp) c.5002A>G (p.Asn1668Asp) c.1180-4842A>G c.6367A>G (p.Asn2123Asp) c.5017A>G (p.Asn1673Asp) | |
| 1 | g.207611733A>T | CA344545040 | CR1 | c.6352A>T (p.Asn2118Tyr) c.5002A>T (p.Asn1668Tyr) c.1180-4842A>T c.6367A>T (p.Asn2123Tyr) c.5017A>T (p.Asn1673Tyr) | |
| 1 | g.207611734A>C | CA344545041 | CR1 | c.6353A>C (p.Asn2118Thr) c.5003A>C (p.Asn1668Thr) c.1180-4841A>C c.6368A>C (p.Asn2123Thr) c.5018A>C (p.Asn1673Thr) | |
| 1 | g.207611734A>G | CA344545043 | CR1 | c.6353A>G (p.Asn2118Ser) c.5003A>G (p.Asn1668Ser) c.1180-4841A>G c.6368A>G (p.Asn2123Ser) c.5018A>G (p.Asn1673Ser) | |
| 1 | g.207611734A>T | CA344545042 | CR1 | c.6353A>T (p.Asn2118Ile) c.5003A>T (p.Asn1668Ile) c.1180-4841A>T c.6368A>T (p.Asn2123Ile) c.5018A>T (p.Asn1673Ile) | |
| 1 | g.207611735del | CA2650269921 | CR1 | c.6354del (p.Ser2120HisfsTer?) c.5004del (p.Ser1670HisfsTer?) c.1180-4840del c.6369del (p.Ser2125HisfsTer?) c.5019del (p.Ser1675HisfsTer?) | gnomAD v4 |
| 1 | g.207611735C>A | CA1370424 | CR1 | c.6354C>A (p.Asn2118Lys) c.5004C>A (p.Asn1668Lys) c.1180-4840C>A c.6369C>A (p.Asn2123Lys) c.5019C>A (p.Asn1673Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207611735C= | CA1149040170 | CR1 | c.6354C= (p.Asn2118=) c.5004C= (p.Asn1668=) c.1180-4840C= c.6369C= (p.Asn2123=) c.5019C= (p.Asn1673=) | |
| 1 | g.207611735C>G | CA344545044 | CR1 | c.6354C>G (p.Asn2118Lys) c.5004C>G (p.Asn1668Lys) c.1180-4840C>G c.6369C>G (p.Asn2123Lys) c.5019C>G (p.Asn1673Lys) | |
| 1 | g.207611735C>T | CA422972842 | CR1 | c.6354C>T (p.Asn2118=) c.5004C>T (p.Asn1668=) c.1180-4840C>T c.6369C>T (p.Asn2123=) c.5019C>T (p.Asn1673=) | |
| 1 | g.207611735_207611736delinsCT | CA2483456537 | CR1 | c.6354_6355delinsCT (p.Asn2118=) c.5004_5005delinsCT (p.Asn1668=) c.1180-4840_1180-4839delinsCT c.6369_6370delinsCT (p.Asn2123=) c.5019_5020delinsCT (p.Asn1673=) | |
| 1 | g.207611736T>A | CA344545045 | CR1 | c.6355T>A (p.Phe2119Ile) c.5005T>A (p.Phe1669Ile) c.1180-4839T>A c.6370T>A (p.Phe2124Ile) c.5020T>A (p.Phe1674Ile) | |
| 1 | g.207611736T>C | CA344545046 | CR1 | c.6355T>C (p.Phe2119Leu) c.5005T>C (p.Phe1669Leu) c.1180-4839T>C c.6370T>C (p.Phe2124Leu) c.5020T>C (p.Phe1674Leu) | |
| 1 | g.207611736T>G | CA344545047 | CR1 | c.6355T>G (p.Phe2119Val) c.5005T>G (p.Phe1669Val) c.1180-4839T>G c.6370T>G (p.Phe2124Val) c.5020T>G (p.Phe1674Val) | |
| 1 | g.207611739del | CA730633333 | CR1 | c.6358del (p.Ser2120HisfsTer?) c.5008del (p.Ser1670HisfsTer?) c.1180-4836del c.6373del (p.Ser2125HisfsTer?) c.5023del (p.Ser1675HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611737T>A | CA344545048 | CR1 | c.6356T>A (p.Phe2119Tyr) c.5006T>A (p.Phe1669Tyr) c.1180-4838T>A c.6371T>A (p.Phe2124Tyr) c.5021T>A (p.Phe1674Tyr) | |
| 1 | g.207611737T>C | CA1370425 | CR1 | c.6356T>C (p.Phe2119Ser) c.5006T>C (p.Phe1669Ser) c.1180-4838T>C c.6371T>C (p.Phe2124Ser) c.5021T>C (p.Phe1674Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.207611737T>G | CA344545049 | CR1 | c.6356T>G (p.Phe2119Cys) c.5006T>G (p.Phe1669Cys) c.1180-4838T>G c.6371T>G (p.Phe2124Cys) c.5021T>G (p.Phe1674Cys) | |
| 1 | g.207611737T= | CA2483456538 | CR1 | c.6356T= (p.Phe2119=) c.5006T= (p.Phe1669=) c.1180-4838T= c.6371T= (p.Phe2124=) c.5021T= (p.Phe1674=) | |
| 1 | g.207611738T>A | CA344545050 | CR1 | c.6357T>A (p.Phe2119Leu) c.5007T>A (p.Phe1669Leu) c.1180-4837T>A c.6372T>A (p.Phe2124Leu) c.5022T>A (p.Phe1674Leu) | |
| 1 | g.207611738T>C | CA1370426 | CR1 | c.6357T>C (p.Phe2119=) c.5007T>C (p.Phe1669=) c.1180-4837T>C c.6372T>C (p.Phe2124=) c.5022T>C (p.Phe1674=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611738T>G | CA344545051 | CR1 | c.6357T>G (p.Phe2119Leu) c.5007T>G (p.Phe1669Leu) c.1180-4837T>G c.6372T>G (p.Phe2124Leu) c.5022T>G (p.Phe1674Leu) | |
| 1 | g.207611738T= | CA2483456539 | CR1 | c.6357T= (p.Phe2119=) c.5007T= (p.Phe1669=) c.1180-4837T= c.6372T= (p.Phe2124=) c.5022T= (p.Phe1674=) | |
| 1 | g.207611739T>A | CA344545052 | CR1 | c.6358T>A (p.Ser2120Thr) c.5008T>A (p.Ser1670Thr) c.1180-4836T>A c.6373T>A (p.Ser2125Thr) c.5023T>A (p.Ser1675Thr) | |
| 1 | g.207611739T>C | CA344545054 | CR1 | c.6358T>C (p.Ser2120Pro) c.5008T>C (p.Ser1670Pro) c.1180-4836T>C c.6373T>C (p.Ser2125Pro) c.5023T>C (p.Ser1675Pro) | |
| 1 | g.207611739T>G | CA344545053 | CR1 | c.6358T>G (p.Ser2120Ala) c.5008T>G (p.Ser1670Ala) c.1180-4836T>G c.6373T>G (p.Ser2125Ala) c.5023T>G (p.Ser1675Ala) | |
| 1 | g.207611740C>A | CA344545055 | CR1 | c.6359C>A (p.Ser2120Ter) c.5009C>A (p.Ser1670Ter) c.1180-4835C>A c.6374C>A (p.Ser2125Ter) c.5024C>A (p.Ser1675Ter) | |
| 1 | g.207611740C>G | CA344545057 | CR1 | c.6359C>G (p.Ser2120Ter) c.5009C>G (p.Ser1670Ter) c.1180-4835C>G c.6374C>G (p.Ser2125Ter) c.5024C>G (p.Ser1675Ter) | |
| 1 | g.207611740C>T | CA344545056 | CR1 | c.6359C>T (p.Ser2120Leu) c.5009C>T (p.Ser1670Leu) c.1180-4835C>T c.6374C>T (p.Ser2125Leu) c.5024C>T (p.Ser1675Leu) | gnomAD v4 COSMIC COSMIC |
| 1 | g.207611741A>C | CA422972856 | CR1 | c.6360A>C (p.Ser2120=) c.5010A>C (p.Ser1670=) c.1180-4834A>C c.6375A>C (p.Ser2125=) c.5025A>C (p.Ser1675=) | |
| 1 | g.207611741A>G | CA422972858 | CR1 | c.6360A>G (p.Ser2120=) c.5010A>G (p.Ser1670=) c.1180-4834A>G c.6375A>G (p.Ser2125=) c.5025A>G (p.Ser1675=) | |
| 1 | g.207611741A>T | CA422972860 | CR1 | c.6360A>T (p.Ser2120=) c.5010A>T (p.Ser1670=) c.1180-4834A>T c.6375A>T (p.Ser2125=) c.5025A>T (p.Ser1675=) | |
| 1 | g.207611742C>A | CA344545058 | CR1 | c.6361C>A (p.Pro2121Thr) c.5011C>A (p.Pro1671Thr) c.1180-4833C>A c.6376C>A (p.Pro2126Thr) c.5026C>A (p.Pro1676Thr) | |
| 1 | g.207611742C>G | CA344545060 | CR1 | c.6361C>G (p.Pro2121Ala) c.5011C>G (p.Pro1671Ala) c.1180-4833C>G c.6376C>G (p.Pro2126Ala) c.5026C>G (p.Pro1676Ala) | |
| 1 | g.207611742C>T | CA344545059 | CR1 | c.6361C>T (p.Pro2121Ser) c.5011C>T (p.Pro1671Ser) c.1180-4833C>T c.6376C>T (p.Pro2126Ser) c.5026C>T (p.Pro1676Ser) | |
| 1 | g.207611743C>A | CA344545061 | CR1 | c.6362C>A (p.Pro2121His) c.5012C>A (p.Pro1671His) c.1180-4832C>A c.6377C>A (p.Pro2126His) c.5027C>A (p.Pro1676His) | |
| 1 | g.207611743C>G | CA344545063 | CR1 | c.6362C>G (p.Pro2121Arg) c.5012C>G (p.Pro1671Arg) c.1180-4832C>G c.6377C>G (p.Pro2126Arg) c.5027C>G (p.Pro1676Arg) | |
| 1 | g.207611743C>T | CA344545062 | CR1 | c.6362C>T (p.Pro2121Leu) c.5012C>T (p.Pro1671Leu) c.1180-4832C>T c.6377C>T (p.Pro2126Leu) c.5027C>T (p.Pro1676Leu) | gnomAD v4 |
| 1 | g.207611744T>A | CA422972866 | CR1 | c.6363T>A (p.Pro2121=) c.5013T>A (p.Pro1671=) c.1180-4831T>A c.6378T>A (p.Pro2126=) c.5028T>A (p.Pro1676=) | |
| 1 | g.207611744T>C | CA422972869 | CR1 | c.6363T>C (p.Pro2121=) c.5013T>C (p.Pro1671=) c.1180-4831T>C c.6378T>C (p.Pro2126=) c.5028T>C (p.Pro1676=) | |
| 1 | g.207611744T>G | CA422972868 | CR1 | c.6363T>G (p.Pro2121=) c.5013T>G (p.Pro1671=) c.1180-4831T>G c.6378T>G (p.Pro2126=) c.5028T>G (p.Pro1676=) | |
| 1 | g.207611745G>A | CA344545064 | CR1 | c.6364G>A (p.Gly2122Arg) c.5014G>A (p.Gly1672Arg) c.1180-4830G>A c.6379G>A (p.Gly2127Arg) c.5029G>A (p.Gly1677Arg) | gnomAD v4 |
| 1 | g.207611745G>C | CA344545065 | CR1 | c.6364G>C (p.Gly2122Arg) c.5014G>C (p.Gly1672Arg) c.1180-4830G>C c.6379G>C (p.Gly2127Arg) c.5029G>C (p.Gly1677Arg) | |
| 1 | g.207611745G>T | CA344545066 | CR1 | c.6364G>T (p.Gly2122Trp) c.5014G>T (p.Gly1672Trp) c.1180-4830G>T c.6379G>T (p.Gly2127Trp) c.5029G>T (p.Gly1677Trp) | |
| 1 | g.207611746G>A | CA344545067 | CR1 | c.6365G>A (p.Gly2122Glu) c.5015G>A (p.Gly1672Glu) c.1180-4829G>A c.6380G>A (p.Gly2127Glu) c.5030G>A (p.Gly1677Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207611746G>C | CA36655208 | CR1 | c.6365G>C (p.Gly2122Ala) c.5015G>C (p.Gly1672Ala) c.1180-4829G>C c.6380G>C (p.Gly2127Ala) c.5030G>C (p.Gly1677Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611746G= | CA1143924818 | CR1 | c.6365G= (p.Gly2122=) c.5015G= (p.Gly1672=) c.1180-4829G= c.6380G= (p.Gly2127=) c.5030G= (p.Gly1677=) | |
| 1 | g.207611746G>T | CA344545068 | CR1 | c.6365G>T (p.Gly2122Val) c.5015G>T (p.Gly1672Val) c.1180-4829G>T c.6380G>T (p.Gly2127Val) c.5030G>T (p.Gly1677Val) | |
| 1 | g.207611747G>A | CA422972877 | CR1 | c.6366G>A (p.Gly2122=) c.5016G>A (p.Gly1672=) c.1180-4828G>A c.6381G>A (p.Gly2127=) c.5031G>A (p.Gly1677=) | |
| 1 | g.207611747G>C | CA422972879 | CR1 | c.6366G>C (p.Gly2122=) c.5016G>C (p.Gly1672=) c.1180-4828G>C c.6381G>C (p.Gly2127=) c.5031G>C (p.Gly1677=) | |
| 1 | g.207611747G= | CA2483456540 | CR1 | c.6366G= (p.Gly2122=) c.5016G= (p.Gly1672=) c.1180-4828G= c.6381G= (p.Gly2127=) c.5031G= (p.Gly1677=) | |
| 1 | g.207611747G>T | CA422972880 | CR1 | c.6366G>T (p.Gly2122=) c.5016G>T (p.Gly1672=) c.1180-4828G>T c.6381G>T (p.Gly2127=) c.5031G>T (p.Gly1677=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611748C>A | CA344545069 | CR1 | c.6367C>A (p.Gln2123Lys) c.5017C>A (p.Gln1673Lys) c.1180-4827C>A c.6382C>A (p.Gln2128Lys) c.5032C>A (p.Gln1678Lys) | |
| 1 | g.207611748C>G | CA344545070 | CR1 | c.6367C>G (p.Gln2123Glu) c.5017C>G (p.Gln1673Glu) c.1180-4827C>G c.6382C>G (p.Gln2128Glu) c.5032C>G (p.Gln1678Glu) | |
| 1 | g.207611748C>T | CA344545071 | CR1 | c.6367C>T (p.Gln2123Ter) c.5017C>T (p.Gln1673Ter) c.1180-4827C>T c.6382C>T (p.Gln2128Ter) c.5032C>T (p.Gln1678Ter) | |
| 1 | g.207611749A= | CA2483456541 | CR1 | c.6368A= (p.Gln2123=) c.5018A= (p.Gln1673=) c.1180-4826A= c.6383A= (p.Gln2128=) c.5033A= (p.Gln1678=) | |
| 1 | g.207611749A>C | CA344545072 | CR1 | c.6368A>C (p.Gln2123Pro) c.5018A>C (p.Gln1673Pro) c.1180-4826A>C c.6383A>C (p.Gln2128Pro) c.5033A>C (p.Gln1678Pro) | |
| 1 | g.207611749A>G | CA36655210 | CR1 | c.6368A>G (p.Gln2123Arg) c.5018A>G (p.Gln1673Arg) c.1180-4826A>G c.6383A>G (p.Gln2128Arg) c.5033A>G (p.Gln1678Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611749A>T | CA344545073 | CR1 | c.6368A>T (p.Gln2123Leu) c.5018A>T (p.Gln1673Leu) c.1180-4826A>T c.6383A>T (p.Gln2128Leu) c.5033A>T (p.Gln1678Leu) | |
| 1 | g.207611750G>A | CA422972886 | CR1 | c.6369G>A (p.Gln2123=) c.5019G>A (p.Gln1673=) c.1180-4825G>A c.6384G>A (p.Gln2128=) c.5034G>A (p.Gln1678=) | |
| 1 | g.207611750G>C | CA344545074 | CR1 | c.6369G>C (p.Gln2123His) c.5019G>C (p.Gln1673His) c.1180-4825G>C c.6384G>C (p.Gln2128His) c.5034G>C (p.Gln1678His) | |
| 1 | g.207611750G>T | CA344545075 | CR1 | c.6369G>T (p.Gln2123His) c.5019G>T (p.Gln1673His) c.1180-4825G>T c.6384G>T (p.Gln2128His) c.5034G>T (p.Gln1678His) | |
| 1 | g.207611751G>A | CA1370427 | CR1 | c.6370G>A (p.Glu2124Lys) c.5020G>A (p.Glu1674Lys) c.1180-4824G>A c.6385G>A (p.Glu2129Lys) c.5035G>A (p.Glu1679Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207611751G>C | CA344545077 | CR1 | c.6370G>C (p.Glu2124Gln) c.5020G>C (p.Glu1674Gln) c.1180-4824G>C c.6385G>C (p.Glu2129Gln) c.5035G>C (p.Glu1679Gln) | dbSNP |
| 1 | g.207611751G= | CA2483456542 | CR1 | c.6370G= (p.Glu2124=) c.5020G= (p.Glu1674=) c.1180-4824G= c.6385G= (p.Glu2129=) c.5035G= (p.Glu1679=) | |
| 1 | g.207611751G>T | CA344545076 | CR1 | c.6370G>T (p.Glu2124Ter) c.5020G>T (p.Glu1674Ter) c.1180-4824G>T c.6385G>T (p.Glu2129Ter) c.5035G>T (p.Glu1679Ter) | gnomAD v4 |
| 1 | g.207611752A>C | CA344545078 | CR1 | c.6371A>C (p.Glu2124Ala) c.5021A>C (p.Glu1674Ala) c.1180-4823A>C c.6386A>C (p.Glu2129Ala) c.5036A>C (p.Glu1679Ala) | |
| 1 | g.207611752A>G | CA344545079 | CR1 | c.6371A>G (p.Glu2124Gly) c.5021A>G (p.Glu1674Gly) c.1180-4823A>G c.6386A>G (p.Glu2129Gly) c.5036A>G (p.Glu1679Gly) | |
| 1 | g.207611752A>T | CA344545080 | CR1 | c.6371A>T (p.Glu2124Val) c.5021A>T (p.Glu1674Val) c.1180-4823A>T c.6386A>T (p.Glu2129Val) c.5036A>T (p.Glu1679Val) | |
| 1 | g.207611753A>C | CA344545081 | CR1 | c.6372A>C (p.Glu2124Asp) c.5022A>C (p.Glu1674Asp) c.1180-4822A>C c.6387A>C (p.Glu2129Asp) c.5037A>C (p.Glu1679Asp) | |
| 1 | g.207611753A>G | CA422972893 | CR1 | c.6372A>G (p.Glu2124=) c.5022A>G (p.Glu1674=) c.1180-4822A>G c.6387A>G (p.Glu2129=) c.5037A>G (p.Glu1679=) | |
| 1 | g.207611753A>T | CA344545082 | CR1 | c.6372A>T (p.Glu2124Asp) c.5022A>T (p.Glu1674Asp) c.1180-4822A>T c.6387A>T (p.Glu2129Asp) c.5037A>T (p.Glu1679Asp) | |
| 1 | g.207611754G>A | CA344545083 | CR1 | c.6373G>A (p.Val2125Met) c.5023G>A (p.Val1675Met) c.1180-4821G>A c.6388G>A (p.Val2130Met) c.5038G>A (p.Val1680Met) | gnomAD v4 |
| 1 | g.207611754G>C | CA1370429 | CR1 | c.6373G>C (p.Val2125Leu) c.5023G>C (p.Val1675Leu) c.1180-4821G>C c.6388G>C (p.Val2130Leu) c.5038G>C (p.Val1680Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611754G= | CA1143529754 | CR1 | c.6373G= (p.Val2125=) c.5023G= (p.Val1675=) c.1180-4821G= c.6388G= (p.Val2130=) c.5038G= (p.Val1680=) | |
| 1 | g.207611754G>T | CA1370428 | CR1 | c.6373G>T (p.Val2125Leu) c.5023G>T (p.Val1675Leu) c.1180-4821G>T c.6388G>T (p.Val2130Leu) c.5038G>T (p.Val1680Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611755T>A | CA344545084 | CR1 | c.6374T>A (p.Val2125Glu) c.5024T>A (p.Val1675Glu) c.1180-4820T>A c.6389T>A (p.Val2130Glu) c.5039T>A (p.Val1680Glu) | |
| 1 | g.207611755T>C | CA344545085 | CR1 | c.6374T>C (p.Val2125Ala) c.5024T>C (p.Val1675Ala) c.1180-4820T>C c.6389T>C (p.Val2130Ala) c.5039T>C (p.Val1680Ala) | |
| 1 | g.207611755T>G | CA344545086 | CR1 | c.6374T>G (p.Val2125Gly) c.5024T>G (p.Val1675Gly) c.1180-4820T>G c.6389T>G (p.Val2130Gly) c.5039T>G (p.Val1680Gly) | |
| 1 | g.207611756G>A | CA422972899 | CR1 | c.6375G>A (p.Val2125=) c.5025G>A (p.Val1675=) c.1180-4819G>A c.6390G>A (p.Val2130=) c.5040G>A (p.Val1680=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207611756G>C | CA422972900 | CR1 | c.6375G>C (p.Val2125=) c.5025G>C (p.Val1675=) c.1180-4819G>C c.6390G>C (p.Val2130=) c.5040G>C (p.Val1680=) | |
| 1 | g.207611756G= | CA2483456543 | CR1 | c.6375G= (p.Val2125=) c.5025G= (p.Val1675=) c.1180-4819G= c.6390G= (p.Val2130=) c.5040G= (p.Val1680=) | |
| 1 | g.207611756G>T | CA422972905 | CR1 | c.6375G>T (p.Val2125=) c.5025G>T (p.Val1675=) c.1180-4819G>T c.6390G>T (p.Val2130=) c.5040G>T (p.Val1680=) | |
| 1 | g.207611757T>A | CA344545087 | CR1 | c.6376T>A (p.Phe2126Ile) c.5026T>A (p.Phe1676Ile) c.1180-4818T>A c.6391T>A (p.Phe2131Ile) c.5041T>A (p.Phe1681Ile) | |
| 1 | g.207611757T>C | CA344545088 | CR1 | c.6376T>C (p.Phe2126Leu) c.5026T>C (p.Phe1676Leu) c.1180-4818T>C c.6391T>C (p.Phe2131Leu) c.5041T>C (p.Phe1681Leu) | |
| 1 | g.207611757T>G | CA344545089 | CR1 | c.6376T>G (p.Phe2126Val) c.5026T>G (p.Phe1676Val) c.1180-4818T>G c.6391T>G (p.Phe2131Val) c.5041T>G (p.Phe1681Val) | |
| 1 | g.207611758T>A | CA344545092 | CR1 | c.6377T>A (p.Phe2126Tyr) c.5027T>A (p.Phe1676Tyr) c.1180-4817T>A c.6392T>A (p.Phe2131Tyr) c.5042T>A (p.Phe1681Tyr) | COSMIC COSMIC |
| 1 | g.207611758T>C | CA344545091 | CR1 | c.6377T>C (p.Phe2126Ser) c.5027T>C (p.Phe1676Ser) c.1180-4817T>C c.6392T>C (p.Phe2131Ser) c.5042T>C (p.Phe1681Ser) | |
| 1 | g.207611758T>G | CA344545090 | CR1 | c.6377T>G (p.Phe2126Cys) c.5027T>G (p.Phe1676Cys) c.1180-4817T>G c.6392T>G (p.Phe2131Cys) c.5042T>G (p.Phe1681Cys) | |
| 1 | g.207611759C>A | CA344545093 | CR1 | c.6378C>A (p.Phe2126Leu) c.5028C>A (p.Phe1676Leu) c.1180-4816C>A c.6393C>A (p.Phe2131Leu) c.5043C>A (p.Phe1681Leu) | |
| 1 | g.207611759C= | CA2483456544 | CR1 | c.6378C= (p.Phe2126=) c.5028C= (p.Phe1676=) c.1180-4816C= c.6393C= (p.Phe2131=) c.5043C= (p.Phe1681=) | |
| 1 | g.207611759C>G | CA344545094 | CR1 | c.6378C>G (p.Phe2126Leu) c.5028C>G (p.Phe1676Leu) c.1180-4816C>G c.6393C>G (p.Phe2131Leu) c.5043C>G (p.Phe1681Leu) | |
| 1 | g.207611759C>T | CA422972914 | CR1 | c.6378C>T (p.Phe2126=) c.5028C>T (p.Phe1676=) c.1180-4816C>T c.6393C>T (p.Phe2131=) c.5043C>T (p.Phe1681=) | dbSNP |
| 1 | g.207611760T>A | CA344545095 | CR1 | c.6379T>A (p.Tyr2127Asn) c.5029T>A (p.Tyr1677Asn) c.1180-4815T>A c.6394T>A (p.Tyr2132Asn) c.5044T>A (p.Tyr1682Asn) | |
| 1 | g.207611760T>C | CA344545096 | CR1 | c.6379T>C (p.Tyr2127His) c.5029T>C (p.Tyr1677His) c.1180-4815T>C c.6394T>C (p.Tyr2132His) c.5044T>C (p.Tyr1682His) | gnomAD v4 |
| 1 | g.207611760T>G | CA344545097 | CR1 | c.6379T>G (p.Tyr2127Asp) c.5029T>G (p.Tyr1677Asp) c.1180-4815T>G c.6394T>G (p.Tyr2132Asp) c.5044T>G (p.Tyr1682Asp) | |
| 1 | g.207611761A>C | CA344545098 | CR1 | c.6380A>C (p.Tyr2127Ser) c.5030A>C (p.Tyr1677Ser) c.1180-4814A>C c.6395A>C (p.Tyr2132Ser) c.5045A>C (p.Tyr1682Ser) | |
| 1 | g.207611761A>G | CA344545099 | CR1 | c.6380A>G (p.Tyr2127Cys) c.5030A>G (p.Tyr1677Cys) c.1180-4814A>G c.6395A>G (p.Tyr2132Cys) c.5045A>G (p.Tyr1682Cys) | gnomAD v4 |
| 1 | g.207611761A>T | CA344545100 | CR1 | c.6380A>T (p.Tyr2127Phe) c.5030A>T (p.Tyr1677Phe) c.1180-4814A>T c.6395A>T (p.Tyr2132Phe) c.5045A>T (p.Tyr1682Phe) | |
| 1 | g.207611762C>A | CA344545101 | CR1 | c.6381C>A (p.Tyr2127Ter) c.5031C>A (p.Tyr1677Ter) c.1180-4813C>A c.6396C>A (p.Tyr2132Ter) c.5046C>A (p.Tyr1682Ter) | |
| 1 | g.207611762C= | CA2483456545 | CR1 | c.6381C= (p.Tyr2127=) c.5031C= (p.Tyr1677=) c.1180-4813C= c.6396C= (p.Tyr2132=) c.5046C= (p.Tyr1682=) | |
| 1 | g.207611762C>G | CA344545102 | CR1 | c.6381C>G (p.Tyr2127Ter) c.5031C>G (p.Tyr1677Ter) c.1180-4813C>G c.6396C>G (p.Tyr2132Ter) c.5046C>G (p.Tyr1682Ter) | |
| 1 | g.207611762C>T | CA422972922 | CR1 | c.6381C>T (p.Tyr2127=) c.5031C>T (p.Tyr1677=) c.1180-4813C>T c.6396C>T (p.Tyr2132=) c.5046C>T (p.Tyr1682=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611763A>C | CA344545103 | CR1 | c.6382A>C (p.Ser2128Arg) c.5032A>C (p.Ser1678Arg) c.1180-4812A>C c.6397A>C (p.Ser2133Arg) c.5047A>C (p.Ser1683Arg) | |
| 1 | g.207611763A>G | CA344545104 | CR1 | c.6382A>G (p.Ser2128Gly) c.5032A>G (p.Ser1678Gly) c.1180-4812A>G c.6397A>G (p.Ser2133Gly) c.5047A>G (p.Ser1683Gly) | |
| 1 | g.207611763A>T | CA344545105 | CR1 | c.6382A>T (p.Ser2128Cys) c.5032A>T (p.Ser1678Cys) c.1180-4812A>T c.6397A>T (p.Ser2133Cys) c.5047A>T (p.Ser1683Cys) | |
| 1 | g.207611764G>A | CA344545108 | CR1 | c.6383G>A (p.Ser2128Asn) c.5033G>A (p.Ser1678Asn) c.1180-4811G>A c.6398G>A (p.Ser2133Asn) c.5048G>A (p.Ser1683Asn) | |
| 1 | g.207611764G>C | CA344545107 | CR1 | c.6383G>C (p.Ser2128Thr) c.5033G>C (p.Ser1678Thr) c.1180-4811G>C c.6398G>C (p.Ser2133Thr) c.5048G>C (p.Ser1683Thr) | |
| 1 | g.207611764G>T | CA344545106 | CR1 | c.6383G>T (p.Ser2128Ile) c.5033G>T (p.Ser1678Ile) c.1180-4811G>T c.6398G>T (p.Ser2133Ile) c.5048G>T (p.Ser1683Ile) | |
| 1 | g.207611765C>A | CA344545109 | CR1 | c.6384C>A (p.Ser2128Arg) c.5034C>A (p.Ser1678Arg) c.1180-4810C>A c.6399C>A (p.Ser2133Arg) c.5049C>A (p.Ser1683Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207611765C= | CA2483456546 | CR1 | c.6384C= (p.Ser2128=) c.5034C= (p.Ser1678=) c.1180-4810C= c.6399C= (p.Ser2133=) c.5049C= (p.Ser1683=) | |
| 1 | g.207611765C>G | CA344545110 | CR1 | c.6384C>G (p.Ser2128Arg) c.5034C>G (p.Ser1678Arg) c.1180-4810C>G c.6399C>G (p.Ser2133Arg) c.5049C>G (p.Ser1683Arg) | |
| 1 | g.207611765C>T | CA422972931 | CR1 | c.6384C>T (p.Ser2128=) c.5034C>T (p.Ser1678=) c.1180-4810C>T c.6399C>T (p.Ser2133=) c.5049C>T (p.Ser1683=) | |
| 1 | g.207611766T>A | CA344545111 | CR1 | c.6385T>A (p.Cys2129Ser) c.5035T>A (p.Cys1679Ser) c.1180-4809T>A c.6400T>A (p.Cys2134Ser) c.5050T>A (p.Cys1684Ser) | |
| 1 | g.207611766T>C | CA344545112 | CR1 | c.6385T>C (p.Cys2129Arg) c.5035T>C (p.Cys1679Arg) c.1180-4809T>C c.6400T>C (p.Cys2134Arg) c.5050T>C (p.Cys1684Arg) | |
| 1 | g.207611766T>G | CA344545113 | CR1 | c.6385T>G (p.Cys2129Gly) c.5035T>G (p.Cys1679Gly) c.1180-4809T>G c.6400T>G (p.Cys2134Gly) c.5050T>G (p.Cys1684Gly) | |
| 1 | g.207611767G>A | CA344545114 | CR1 | c.6386G>A (p.Cys2129Tyr) c.5036G>A (p.Cys1679Tyr) c.1180-4808G>A c.6401G>A (p.Cys2134Tyr) c.5051G>A (p.Cys1684Tyr) | |
| 1 | g.207611767G>C | CA1370430 | CR1 | c.6386G>C (p.Cys2129Ser) c.5036G>C (p.Cys1679Ser) c.1180-4808G>C c.6401G>C (p.Cys2134Ser) c.5051G>C (p.Cys1684Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207611767G= | CA2483456547 | CR1 | c.6386G= (p.Cys2129=) c.5036G= (p.Cys1679=) c.1180-4808G= c.6401G= (p.Cys2134=) c.5051G= (p.Cys1684=) | |
| 1 | g.207611767G>T | CA344545115 | CR1 | c.6386G>T (p.Cys2129Phe) c.5036G>T (p.Cys1679Phe) c.1180-4808G>T c.6401G>T (p.Cys2134Phe) c.5051G>T (p.Cys1684Phe) | |
| 1 | g.207611768T>A | CA344545116 | CR1 | c.6387T>A (p.Cys2129Ter) c.5037T>A (p.Cys1679Ter) c.1180-4807T>A c.6402T>A (p.Cys2134Ter) c.5052T>A (p.Cys1684Ter) | |
| 1 | g.207611768T>C | CA422972940 | CR1 | c.6387T>C (p.Cys2129=) c.5037T>C (p.Cys1679=) c.1180-4807T>C c.6402T>C (p.Cys2134=) c.5052T>C (p.Cys1684=) | |
| 1 | g.207611768T>G | CA344545117 | CR1 | c.6387T>G (p.Cys2129Trp) c.5037T>G (p.Cys1679Trp) c.1180-4807T>G c.6402T>G (p.Cys2134Trp) c.5052T>G (p.Cys1684Trp) | |
| 1 | g.207611769G>A | CA344545118 | CR1 | c.6388G>A (p.Glu2130Lys) c.5038G>A (p.Glu1680Lys) c.1180-4806G>A c.6403G>A (p.Glu2135Lys) c.5053G>A (p.Glu1685Lys) | dbSNP gnomAD v4 |
| 1 | g.207611769G>C | CA344545119 | CR1 | c.6388G>C (p.Glu2130Gln) c.5038G>C (p.Glu1680Gln) c.1180-4806G>C c.6403G>C (p.Glu2135Gln) c.5053G>C (p.Glu1685Gln) | |
| 1 | g.207611769G= | CA2483456548 | CR1 | c.6388G= (p.Glu2130=) c.5038G= (p.Glu1680=) c.1180-4806G= c.6403G= (p.Glu2135=) c.5053G= (p.Glu1685=) | |
| 1 | g.207611769G>T | CA344545120 | CR1 | c.6388G>T (p.Glu2130Ter) c.5038G>T (p.Glu1680Ter) c.1180-4806G>T c.6403G>T (p.Glu2135Ter) c.5053G>T (p.Glu1685Ter) | |
| 1 | g.207611770A>C | CA344545122 | CR1 | c.6389A>C (p.Glu2130Ala) c.5039A>C (p.Glu1680Ala) c.1180-4805A>C c.6404A>C (p.Glu2135Ala) c.5054A>C (p.Glu1685Ala) | |
| 1 | g.207611770A>G | CA344545123 | CR1 | c.6389A>G (p.Glu2130Gly) c.5039A>G (p.Glu1680Gly) c.1180-4805A>G c.6404A>G (p.Glu2135Gly) c.5054A>G (p.Glu1685Gly) | |
| 1 | g.207611770A>T | CA344545121 | CR1 | c.6389A>T (p.Glu2130Val) c.5039A>T (p.Glu1680Val) c.1180-4805A>T c.6404A>T (p.Glu2135Val) c.5054A>T (p.Glu1685Val) | |
| 1 | g.207611771G>A | CA422972949 | CR1 | c.6390G>A (p.Glu2130=) c.5040G>A (p.Glu1680=) c.1180-4804G>A c.6405G>A (p.Glu2135=) c.5055G>A (p.Glu1685=) | |
| 1 | g.207611771G>C | CA344545124 | CR1 | c.6390G>C (p.Glu2130Asp) c.5040G>C (p.Glu1680Asp) c.1180-4804G>C c.6405G>C (p.Glu2135Asp) c.5055G>C (p.Glu1685Asp) | |
| 1 | g.207611771G>T | CA344545125 | CR1 | c.6390G>T (p.Glu2130Asp) c.5040G>T (p.Glu1680Asp) c.1180-4804G>T c.6405G>T (p.Glu2135Asp) c.5055G>T (p.Glu1685Asp) | |
| 1 | g.207611772C>A | CA344545126 | CR1 | c.6391C>A (p.Pro2131Thr) c.5041C>A (p.Pro1681Thr) c.1180-4803C>A c.6406C>A (p.Pro2136Thr) c.5056C>A (p.Pro1686Thr) | |
| 1 | g.207611772C>G | CA344545127 | CR1 | c.6391C>G (p.Pro2131Ala) c.5041C>G (p.Pro1681Ala) c.1180-4803C>G c.6406C>G (p.Pro2136Ala) c.5056C>G (p.Pro1686Ala) | |
| 1 | g.207611772C>T | CA344545128 | CR1 | c.6391C>T (p.Pro2131Ser) c.5041C>T (p.Pro1681Ser) c.1180-4803C>T c.6406C>T (p.Pro2136Ser) c.5056C>T (p.Pro1686Ser) | |
| 1 | g.207611773C>A | CA344545129 | CR1 | c.6392C>A (p.Pro2131His) c.5042C>A (p.Pro1681His) c.1180-4802C>A c.6407C>A (p.Pro2136His) c.5057C>A (p.Pro1686His) | |
| 1 | g.207611773C>G | CA344545130 | CR1 | c.6392C>G (p.Pro2131Arg) c.5042C>G (p.Pro1681Arg) c.1180-4802C>G c.6407C>G (p.Pro2136Arg) c.5057C>G (p.Pro1686Arg) | |
| 1 | g.207611773C>T | CA344545131 | CR1 | c.6392C>T (p.Pro2131Leu) c.5042C>T (p.Pro1681Leu) c.1180-4802C>T c.6407C>T (p.Pro2136Leu) c.5057C>T (p.Pro1686Leu) | |
| 1 | g.207611774C>A | CA422972950 | CR1 | c.6393C>A (p.Pro2131=) c.5043C>A (p.Pro1681=) c.1180-4801C>A c.6408C>A (p.Pro2136=) c.5058C>A (p.Pro1686=) | COSMIC COSMIC |
| 1 | g.207611774C= | CA2483456549 | CR1 | c.6393C= (p.Pro2131=) c.5043C= (p.Pro1681=) c.1180-4801C= c.6408C= (p.Pro2136=) c.5058C= (p.Pro1686=) | |
| 1 | g.207611774C>G | CA422972951 | CR1 | c.6393C>G (p.Pro2131=) c.5043C>G (p.Pro1681=) c.1180-4801C>G c.6408C>G (p.Pro2136=) c.5058C>G (p.Pro1686=) | |
| 1 | g.207611774C>T | CA422972952 | CR1 | c.6393C>T (p.Pro2131=) c.5043C>T (p.Pro1681=) c.1180-4801C>T c.6408C>T (p.Pro2136=) c.5058C>T (p.Pro1686=) | dbSNP gnomAD v2 |
| 1 | g.207611775A= | CA2483456550 | CR1 | c.6394A= (p.Ser2132=) c.5044A= (p.Ser1682=) c.1180-4800A= c.6409A= (p.Ser2137=) c.5059A= (p.Ser1687=) | |
| 1 | g.207611775A>C | CA344545132 | CR1 | c.6394A>C (p.Ser2132Arg) c.5044A>C (p.Ser1682Arg) c.1180-4800A>C c.6409A>C (p.Ser2137Arg) c.5059A>C (p.Ser1687Arg) | |
| 1 | g.207611775A>G | CA344545133 | CR1 | c.6394A>G (p.Ser2132Gly) c.5044A>G (p.Ser1682Gly) c.1180-4800A>G c.6409A>G (p.Ser2137Gly) c.5059A>G (p.Ser1687Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.207611775A>T | CA344545134 | CR1 | c.6394A>T (p.Ser2132Cys) c.5044A>T (p.Ser1682Cys) c.1180-4800A>T c.6409A>T (p.Ser2137Cys) c.5059A>T (p.Ser1687Cys) | COSMIC COSMIC |
| 1 | g.207611776G>A | CA344545135 | CR1 | c.6395G>A (p.Ser2132Asn) c.5045G>A (p.Ser1682Asn) c.1180-4799G>A c.6410G>A (p.Ser2137Asn) c.5060G>A (p.Ser1687Asn) | |
| 1 | g.207611776G>C | CA344545136 | CR1 | c.6395G>C (p.Ser2132Thr) c.5045G>C (p.Ser1682Thr) c.1180-4799G>C c.6410G>C (p.Ser2137Thr) c.5060G>C (p.Ser1687Thr) | dbSNP gnomAD v4 |
| 1 | g.207611776G= | CA2483456551 | CR1 | c.6395G= (p.Ser2132=) c.5045G= (p.Ser1682=) c.1180-4799G= c.6410G= (p.Ser2137=) c.5060G= (p.Ser1687=) | |
| 1 | g.207611776G>T | CA344545137 | CR1 | c.6395G>T (p.Ser2132Ile) c.5045G>T (p.Ser1682Ile) c.1180-4799G>T c.6410G>T (p.Ser2137Ile) c.5060G>T (p.Ser1687Ile) | |
| 1 | g.207611777C>A | CA344545139 | CR1 | c.6396C>A (p.Ser2132Arg) c.5046C>A (p.Ser1682Arg) c.1180-4798C>A c.6411C>A (p.Ser2137Arg) c.5061C>A (p.Ser1687Arg) | |
| 1 | g.207611777C= | CA2483456552 | CR1 | c.6396C= (p.Ser2132=) c.5046C= (p.Ser1682=) c.1180-4798C= c.6411C= (p.Ser2137=) c.5061C= (p.Ser1687=) | |
| 1 | g.207611777C>G | CA344545138 | CR1 | c.6396C>G (p.Ser2132Arg) c.5046C>G (p.Ser1682Arg) c.1180-4798C>G c.6411C>G (p.Ser2137Arg) c.5061C>G (p.Ser1687Arg) | |
| 1 | g.207611777C>T | CA1370431 | CR1 | c.6396C>T (p.Ser2132=) c.5046C>T (p.Ser1682=) c.1180-4798C>T c.6411C>T (p.Ser2137=) c.5061C>T (p.Ser1687=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207611778T>A | CA344545140 | CR1 | c.6397T>A (p.Tyr2133Asn) c.5047T>A (p.Tyr1683Asn) c.1180-4797T>A c.6412T>A (p.Tyr2138Asn) c.5062T>A (p.Tyr1688Asn) | |
| 1 | g.207611778T>C | CA344545141 | CR1 | c.6397T>C (p.Tyr2133His) c.5047T>C (p.Tyr1683His) c.1180-4797T>C c.6412T>C (p.Tyr2138His) c.5062T>C (p.Tyr1688His) | |
| 1 | g.207611778T>G | CA344545142 | CR1 | c.6397T>G (p.Tyr2133Asp) c.5047T>G (p.Tyr1683Asp) c.1180-4797T>G c.6412T>G (p.Tyr2138Asp) c.5062T>G (p.Tyr1688Asp) | |
| 1 | g.207611779A= | CA2483456553 | CR1 | c.6398A= (p.Tyr2133=) c.5048A= (p.Tyr1683=) c.1180-4796A= c.6413A= (p.Tyr2138=) c.5063A= (p.Tyr1688=) | |
| 1 | g.207611779A>C | CA344545143 | CR1 | c.6398A>C (p.Tyr2133Ser) c.5048A>C (p.Tyr1683Ser) c.1180-4796A>C c.6413A>C (p.Tyr2138Ser) c.5063A>C (p.Tyr1688Ser) | |
| 1 | g.207611779A>G | CA344545144 | CR1 | c.6398A>G (p.Tyr2133Cys) c.5048A>G (p.Tyr1683Cys) c.1180-4796A>G c.6413A>G (p.Tyr2138Cys) c.5063A>G (p.Tyr1688Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611779A>T | CA344545145 | CR1 | c.6398A>T (p.Tyr2133Phe) c.5048A>T (p.Tyr1683Phe) c.1180-4796A>T c.6413A>T (p.Tyr2138Phe) c.5063A>T (p.Tyr1688Phe) | |
| 1 | g.207611780T>A | CA344545146 | CR1 | c.6399T>A (p.Tyr2133Ter) c.5049T>A (p.Tyr1683Ter) c.1180-4795T>A c.6414T>A (p.Tyr2138Ter) c.5064T>A (p.Tyr1688Ter) | |
| 1 | g.207611780T>C | CA422972963 | CR1 | c.6399T>C (p.Tyr2133=) c.5049T>C (p.Tyr1683=) c.1180-4795T>C c.6414T>C (p.Tyr2138=) c.5064T>C (p.Tyr1688=) | gnomAD v4 |
| 1 | g.207611780T>G | CA344545147 | CR1 | c.6399T>G (p.Tyr2133Ter) c.5049T>G (p.Tyr1683Ter) c.1180-4795T>G c.6414T>G (p.Tyr2138Ter) c.5064T>G (p.Tyr1688Ter) | |
| 1 | g.207611781G>A | CA344545148 | CR1 | c.6400G>A (p.Asp2134Asn) c.5050G>A (p.Asp1684Asn) c.1180-4794G>A c.6415G>A (p.Asp2139Asn) c.5065G>A (p.Asp1689Asn) | |
| 1 | g.207611781G>C | CA344545149 | CR1 | c.6400G>C (p.Asp2134His) c.5050G>C (p.Asp1684His) c.1180-4794G>C c.6415G>C (p.Asp2139His) c.5065G>C (p.Asp1689His) | |
| 1 | g.207611781G= | CA2483456554 | CR1 | c.6400G= (p.Asp2134=) c.5050G= (p.Asp1684=) c.1180-4794G= c.6415G= (p.Asp2139=) c.5065G= (p.Asp1689=) | |
| 1 | g.207611781G>T | CA1370432 | CR1 | c.6400G>T (p.Asp2134Tyr) c.5050G>T (p.Asp1684Tyr) c.1180-4794G>T c.6415G>T (p.Asp2139Tyr) c.5065G>T (p.Asp1689Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611782A= | CA1146972848 | CR1 | c.6401A= (p.Asp2134=) c.5051A= (p.Asp1684=) c.1180-4793A= c.6416A= (p.Asp2139=) c.5066A= (p.Asp1689=) | |
| 1 | g.207611782A>C | CA344545151 | CR1 | c.6401A>C (p.Asp2134Ala) c.5051A>C (p.Asp1684Ala) c.1180-4793A>C c.6416A>C (p.Asp2139Ala) c.5066A>C (p.Asp1689Ala) | |
| 1 | g.207611782A>G | CA1370433 | CR1 | c.6401A>G (p.Asp2134Gly) c.5051A>G (p.Asp1684Gly) c.1180-4793A>G c.6416A>G (p.Asp2139Gly) c.5066A>G (p.Asp1689Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207611782A>T | CA344545150 | CR1 | c.6401A>T (p.Asp2134Val) c.5051A>T (p.Asp1684Val) c.1180-4793A>T c.6416A>T (p.Asp2139Val) c.5066A>T (p.Asp1689Val) | dbSNP |