Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36246316_36246326del | CA2573106149 | CLTA,GNE | c.416_426del (p.Ile139ArgfsTer4) c.146_156del (p.Ile49ArgfsTer4) c.323_333del (p.Ile108ArgfsTer4) c.486-16882_486-16872del (n.486-16882_486-16872del) c.308_318del (p.Ile103ArgfsTer4) | |
9 | g.36246317A>C | CA373419444 | CLTA,GNE | c.423T>G (p.His141Gln) c.153T>G (p.His51Gln) c.330T>G (p.His110Gln) c.486-16881A>C (n.486-16881A>C) c.315T>G (p.His105Gln) | |
9 | g.36246317A>G | CA464619917 | CLTA,GNE | c.423T>C (p.His141=) c.153T>C (p.His51=) c.330T>C (p.His110=) c.486-16881A>G (n.486-16881A>G) c.315T>C (p.His105=) | ClinVar dbSNP |
9 | g.36246317A>T | CA373419447 | CLTA,GNE | c.423T>A (p.His141Gln) c.153T>A (p.His51Gln) c.330T>A (p.His110Gln) c.486-16881A>T (n.486-16881A>T) c.315T>A (p.His105Gln) | |
9 | g.36246318T>A | CA373419452 | CLTA,GNE | c.422A>T (p.His141Leu) c.152A>T (p.His51Leu) c.329A>T (p.His110Leu) c.486-16880T>A (n.486-16880T>A) c.314A>T (p.His105Leu) | |
9 | g.36246318T>C | CA10605885 | CLTA,GNE | c.422A>G (p.His141Arg) c.152A>G (p.His51Arg) c.329A>G (p.His110Arg) c.486-16880T>C (n.486-16880T>C) c.314A>G (p.His105Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.36246318T>G | CA373419459 | CLTA,GNE | c.422A>C (p.His141Pro) c.152A>C (p.His51Pro) c.329A>C (p.His110Pro) c.486-16880T>G (n.486-16880T>G) c.314A>C (p.His105Pro) | |
9 | g.36246318T= | CA1846320917 | CLTA,GNE | c.422A= (p.His141=) c.152A= (p.His51=) c.329A= (p.His110=) c.486-16880T= (n.486-16880T=) c.314A= (p.His105=) | |
9 | g.36246319G>A | CA373419472 | CLTA,GNE | c.421C>T (p.His141Tyr) c.151C>T (p.His51Tyr) c.328C>T (p.His110Tyr) c.486-16879G>A (n.486-16879G>A) c.313C>T (p.His105Tyr) | |
9 | g.36246319G>C | CA373419470 | CLTA,GNE | c.421C>G (p.His141Asp) c.151C>G (p.His51Asp) c.328C>G (p.His110Asp) c.486-16879G>C (n.486-16879G>C) c.313C>G (p.His105Asp) | ClinVar dbSNP |
9 | g.36246319G>T | CA373419464 | CLTA,GNE | c.421C>A (p.His141Asn) c.151C>A (p.His51Asn) c.328C>A (p.His110Asn) c.486-16879G>T (n.486-16879G>T) c.313C>A (p.His105Asn) | |
9 | g.36246320A= | CA1846320923 | CLTA,GNE | c.420T= (p.Val140=) c.150T= (p.Val50=) c.327T= (p.Val109=) c.486-16878A= (n.486-16878A=) c.312T= (p.Val104=) | |
9 | g.36246320A>C | CA464619921 | CLTA,GNE | c.420T>G (p.Val140=) c.150T>G (p.Val50=) c.327T>G (p.Val109=) c.486-16878A>C (n.486-16878A>C) c.312T>G (p.Val104=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246320A>G | CA464619923 | CLTA,GNE | c.420T>C (p.Val140=) c.150T>C (p.Val50=) c.327T>C (p.Val109=) c.486-16878A>G (n.486-16878A>G) c.312T>C (p.Val104=) | |
9 | g.36246320A>T | CA464619924 | CLTA,GNE | c.420T>A (p.Val140=) c.150T>A (p.Val50=) c.327T>A (p.Val109=) c.486-16878A>T (n.486-16878A>T) c.312T>A (p.Val104=) | |
9 | g.36246321del | CA2689947826 | CLTA,GNE | c.420del (p.His141MetfsTer16) c.150del (p.His51MetfsTer16) c.327del (p.His110MetfsTer16) c.486-16877del (n.486-16877del) c.312del (p.His105MetfsTer16) | gnomAD v4 |
9 | g.36246321A>C | CA373419487 | CLTA,GNE | c.419T>G (p.Val140Gly) c.149T>G (p.Val50Gly) c.326T>G (p.Val109Gly) c.486-16877A>C (n.486-16877A>C) c.311T>G (p.Val104Gly) | |
9 | g.36246321A>G | CA373419478 | CLTA,GNE | c.419T>C (p.Val140Ala) c.149T>C (p.Val50Ala) c.326T>C (p.Val109Ala) c.486-16877A>G (n.486-16877A>G) c.311T>C (p.Val104Ala) | |
9 | g.36246321A>T | CA373419483 | CLTA,GNE | c.419T>A (p.Val140Asp) c.149T>A (p.Val50Asp) c.326T>A (p.Val109Asp) c.486-16877A>T (n.486-16877A>T) c.311T>A (p.Val104Asp) | |
9 | g.36246322C>A | CA373419492 | CLTA,GNE | c.418G>T (p.Val140Phe) c.148G>T (p.Val50Phe) c.325G>T (p.Val109Phe) c.486-16876C>A (n.486-16876C>A) c.310G>T (p.Val104Phe) | |
9 | g.36246322C>G | CA373419495 | CLTA,GNE | c.418G>C (p.Val140Leu) c.148G>C (p.Val50Leu) c.325G>C (p.Val109Leu) c.486-16876C>G (n.486-16876C>G) c.310G>C (p.Val104Leu) | |
9 | g.36246322C>T | CA373419499 | CLTA,GNE | c.418G>A (p.Val140Ile) c.148G>A (p.Val50Ile) c.325G>A (p.Val109Ile) c.486-16876C>T (n.486-16876C>T) c.310G>A (p.Val104Ile) | ClinVar dbSNP |
9 | g.36246323A>C | CA373419503 | CLTA,GNE | c.417T>G (p.Ile139Met) c.147T>G (p.Ile49Met) c.324T>G (p.Ile108Met) c.486-16875A>C (n.486-16875A>C) c.309T>G (p.Ile103Met) | |
9 | g.36246323A>G | CA464619930 | CLTA,GNE | c.417T>C (p.Ile139=) c.147T>C (p.Ile49=) c.324T>C (p.Ile108=) c.486-16875A>G (n.486-16875A>G) c.309T>C (p.Ile103=) | |
9 | g.36246323A>T | CA464619928 | CLTA,GNE | c.417T>A (p.Ile139=) c.147T>A (p.Ile49=) c.324T>A (p.Ile108=) c.486-16875A>T (n.486-16875A>T) c.309T>A (p.Ile103=) | |
9 | g.36246324A>C | CA373419509 | CLTA,GNE | c.416T>G (p.Ile139Ser) c.146T>G (p.Ile49Ser) c.323T>G (p.Ile108Ser) c.486-16874A>C (n.486-16874A>C) c.308T>G (p.Ile103Ser) | |
9 | g.36246324A>G | CA373419512 | CLTA,GNE | c.416T>C (p.Ile139Thr) c.146T>C (p.Ile49Thr) c.323T>C (p.Ile108Thr) c.486-16874A>G (n.486-16874A>G) c.308T>C (p.Ile103Thr) | ClinVar dbSNP |
9 | g.36246324A>T | CA373419516 | CLTA,GNE | c.416T>A (p.Ile139Asn) c.146T>A (p.Ile49Asn) c.323T>A (p.Ile108Asn) c.486-16874A>T (n.486-16874A>T) c.308T>A (p.Ile103Asn) | |
9 | g.36246325T>A | CA373419521 | CLTA,GNE | c.415A>T (p.Ile139Phe) c.145A>T (p.Ile49Phe) c.322A>T (p.Ile108Phe) c.486-16873T>A (n.486-16873T>A) c.307A>T (p.Ile103Phe) | |
9 | g.36246325T>C | CA373419524 | CLTA,GNE | c.415A>G (p.Ile139Val) c.145A>G (p.Ile49Val) c.322A>G (p.Ile108Val) c.486-16873T>C (n.486-16873T>C) c.307A>G (p.Ile103Val) | |
9 | g.36246325T>G | CA373419529 | CLTA,GNE | c.415A>C (p.Ile139Leu) c.145A>C (p.Ile49Leu) c.322A>C (p.Ile108Leu) c.486-16873T>G (n.486-16873T>G) c.307A>C (p.Ile103Leu) | |
9 | g.36246326C>A | CA373419555 | CLTA,GNE | c.414G>T (p.Met138Ile) c.144G>T (p.Met48Ile) c.321G>T (p.Met107Ile) c.486-16872C>A (n.486-16872C>A) c.306G>T (p.Met102Ile) | |
9 | g.36246326C= | CA1846320929 | CLTA,GNE | c.414G= (p.Met138=) c.144G= (p.Met48=) c.321G= (p.Met107=) c.486-16872C= (n.486-16872C=) c.306G= (p.Met102=) | |
9 | g.36246326C>G | CA373419550 | CLTA,GNE | c.414G>C (p.Met138Ile) c.144G>C (p.Met48Ile) c.321G>C (p.Met107Ile) c.486-16872C>G (n.486-16872C>G) c.306G>C (p.Met102Ile) | COSMIC COSMIC COSMIC |
9 | g.36246326C>T | CA373419536 | CLTA,GNE | c.414G>A (p.Met138Ile) c.144G>A (p.Met48Ile) c.321G>A (p.Met107Ile) c.486-16872C>T (n.486-16872C>T) c.306G>A (p.Met102Ile) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246327A>C | CA373419564 | CLTA,GNE | c.413T>G (p.Met138Arg) c.143T>G (p.Met48Arg) c.320T>G (p.Met107Arg) c.486-16871A>C (n.486-16871A>C) c.305T>G (p.Met102Arg) | |
9 | g.36246327A>G | CA373419567 | CLTA,GNE | c.413T>C (p.Met138Thr) c.143T>C (p.Met48Thr) c.320T>C (p.Met107Thr) c.486-16871A>G (n.486-16871A>G) c.305T>C (p.Met102Thr) | |
9 | g.36246327A>T | CA373419570 | CLTA,GNE | c.413T>A (p.Met138Lys) c.143T>A (p.Met48Lys) c.320T>A (p.Met107Lys) c.486-16871A>T (n.486-16871A>T) c.305T>A (p.Met102Lys) | |
9 | g.36246328T>A | CA373419574 | CLTA,GNE | c.412A>T (p.Met138Leu) c.142A>T (p.Met48Leu) c.319A>T (p.Met107Leu) c.486-16870T>A (n.486-16870T>A) c.304A>T (p.Met102Leu) | |
9 | g.36246328T>C | CA373419576 | CLTA,GNE | c.412A>G (p.Met138Val) c.142A>G (p.Met48Val) c.319A>G (p.Met107Val) c.486-16870T>C (n.486-16870T>C) c.304A>G (p.Met102Val) | gnomAD v4 |
9 | g.36246328T>G | CA373419580 | CLTA,GNE | c.412A>C (p.Met138Leu) c.142A>C (p.Met48Leu) c.319A>C (p.Met107Leu) c.486-16870T>G (n.486-16870T>G) c.304A>C (p.Met102Leu) | |
9 | g.36246328T= | CA1846320939 | CLTA,GNE | c.412A= (p.Met138=) c.142A= (p.Met48=) c.319A= (p.Met107=) c.486-16870T= (n.486-16870T=) c.304A= (p.Met102=) | |
9 | g.36246329G>A | CA464619947 | CLTA,GNE | c.411C>T (p.Ile137=) c.141C>T (p.Ile47=) c.318C>T (p.Ile106=) c.486-16869G>A (n.486-16869G>A) c.303C>T (p.Ile101=) | |
9 | g.36246329G>C | CA373419585 | CLTA,GNE | c.411C>G (p.Ile137Met) c.141C>G (p.Ile47Met) c.318C>G (p.Ile106Met) c.486-16869G>C (n.486-16869G>C) c.303C>G (p.Ile101Met) | |
9 | g.36246329G= | CA1846320949 | CLTA,GNE | c.411C= (p.Ile137=) c.141C= (p.Ile47=) c.318C= (p.Ile106=) c.486-16869G= (n.486-16869G=) c.303C= (p.Ile101=) | |
9 | g.36246329G>T | CA464619951 | CLTA,GNE | c.411C>A (p.Ile137=) c.141C>A (p.Ile47=) c.318C>A (p.Ile106=) c.486-16869G>T (n.486-16869G>T) c.303C>A (p.Ile101=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246329dup | CA1123252962 | CLTA,GNE | c.411dup (p.Met138HisfsTer9) c.141dup (p.Met48HisfsTer9) c.318dup (p.Met107HisfsTer9) c.486-16869dup (n.486-16869dup) c.303dup (p.Met102HisfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246330A= | CA1846320950 | CLTA,GNE | c.410T= (p.Ile137=) c.140T= (p.Ile47=) c.317T= (p.Ile106=) c.486-16868A= (n.486-16868A=) c.302T= (p.Ile101=) | |
9 | g.36246330A>C | CA373419591 | CLTA,GNE | c.410T>G (p.Ile137Ser) c.140T>G (p.Ile47Ser) c.317T>G (p.Ile106Ser) c.486-16868A>C (n.486-16868A>C) c.302T>G (p.Ile101Ser) | |
9 | g.36246330A>G | CA5056733 | CLTA,GNE | c.410T>C (p.Ile137Thr) c.140T>C (p.Ile47Thr) c.317T>C (p.Ile106Thr) c.486-16868A>G (n.486-16868A>G) c.302T>C (p.Ile101Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246330A>T | CA373419599 | CLTA,GNE | c.410T>A (p.Ile137Asn) c.140T>A (p.Ile47Asn) c.317T>A (p.Ile106Asn) c.486-16868A>T (n.486-16868A>T) c.302T>A (p.Ile101Asn) | |
9 | g.36246331T>A | CA373419603 | CLTA,GNE | c.409A>T (p.Ile137Phe) c.139A>T (p.Ile47Phe) c.316A>T (p.Ile106Phe) c.486-16867T>A (n.486-16867T>A) c.301A>T (p.Ile101Phe) | dbSNP |
9 | g.36246331T>C | CA5056734 | CLTA,GNE | c.409A>G (p.Ile137Val) c.139A>G (p.Ile47Val) c.316A>G (p.Ile106Val) c.486-16867T>C (n.486-16867T>C) c.301A>G (p.Ile101Val) | dbSNP ExAC |
9 | g.36246331T>G | CA373419611 | CLTA,GNE | c.409A>C (p.Ile137Leu) c.139A>C (p.Ile47Leu) c.316A>C (p.Ile106Leu) c.486-16867T>G (n.486-16867T>G) c.301A>C (p.Ile101Leu) | |
9 | g.36246331T= | CA1846320951 | CLTA,GNE | c.409A= (p.Ile137=) c.139A= (p.Ile47=) c.316A= (p.Ile106=) c.486-16867T= (n.486-16867T=) c.301A= (p.Ile101=) | |
9 | g.36246331_36246334delinsTATC | CA1846320952 | CLTA,GNE | c.406_409delinsGATA (p.Asp136=) c.136_139delinsGATA (p.Asp46=) c.313_316delinsGATA (p.Asp105=) c.486-16867_486-16864delinsTATC (n.486-16867_486-16864delinsTATC) c.298_301delinsGATA (p.Asp100=) | |
9 | g.36246332A= | CA1846320957 | CLTA,GNE | c.408T= (p.Asp136=) c.138T= (p.Asp46=) c.315T= (p.Asp105=) c.486-16866A= (n.486-16866A=) c.300T= (p.Asp100=) | |
9 | g.36246332A>C | CA373419619 | CLTA,GNE | c.408T>G (p.Asp136Glu) c.138T>G (p.Asp46Glu) c.315T>G (p.Asp105Glu) c.486-16866A>C (n.486-16866A>C) c.300T>G (p.Asp100Glu) | |
9 | g.36246332A>G | CA10630085 | CLTA,GNE | c.408T>C (p.Asp136=) c.138T>C (p.Asp46=) c.315T>C (p.Asp105=) c.486-16866A>G (n.486-16866A>G) c.300T>C (p.Asp100=) | ClinVar dbSNP |
9 | g.36246332A>T | CA373419615 | CLTA,GNE | c.408T>A (p.Asp136Glu) c.138T>A (p.Asp46Glu) c.315T>A (p.Asp105Glu) c.486-16866A>T (n.486-16866A>T) c.300T>A (p.Asp100Glu) | |
9 | g.36246333_36246335del | CA1123252967 | CLTA,GNE | c.406_408del (p.Asp136del) c.136_138del (p.Asp46del) c.313_315del (p.Asp105del) c.486-16865_486-16863del (n.486-16865_486-16863del) c.298_300del (p.Asp100del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246333T>A | CA373419626 | CLTA,GNE | c.407A>T (p.Asp136Val) c.137A>T (p.Asp46Val) c.314A>T (p.Asp105Val) c.486-16865T>A (n.486-16865T>A) c.299A>T (p.Asp100Val) | |
9 | g.36246333T>C | CA373419631 | CLTA,GNE | c.407A>G (p.Asp136Gly) c.137A>G (p.Asp46Gly) c.314A>G (p.Asp105Gly) c.486-16865T>C (n.486-16865T>C) c.299A>G (p.Asp100Gly) | gnomAD v4 |
9 | g.36246333T>G | CA373419629 | CLTA,GNE | c.407A>C (p.Asp136Ala) c.137A>C (p.Asp46Ala) c.314A>C (p.Asp105Ala) c.486-16865T>G (n.486-16865T>G) c.299A>C (p.Asp100Ala) | |
9 | g.36246334C>A | CA373419635 | CLTA,GNE | c.406G>T (p.Asp136Tyr) c.136G>T (p.Asp46Tyr) c.313G>T (p.Asp105Tyr) c.486-16864C>A (n.486-16864C>A) c.298G>T (p.Asp100Tyr) | |
9 | g.36246334C= | CA1846320961 | CLTA,GNE | c.406G= (p.Asp136=) c.136G= (p.Asp46=) c.313G= (p.Asp105=) c.486-16864C= (n.486-16864C=) c.298G= (p.Asp100=) | |
9 | g.36246334C>G | CA192828341 | CLTA,GNE | c.406G>C (p.Asp136His) c.136G>C (p.Asp46His) c.313G>C (p.Asp105His) c.486-16864C>G (n.486-16864C>G) c.298G>C (p.Asp100His) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246334C>T | CA192828348 | CLTA,GNE | c.406G>A (p.Asp136Asn) c.136G>A (p.Asp46Asn) c.313G>A (p.Asp105Asn) c.486-16864C>T (n.486-16864C>T) c.298G>A (p.Asp100Asn) | dbSNP |
9 | g.36246335A= | CA1846320967 | CLTA,GNE | c.405T= (p.Pro135=) c.135T= (p.Pro45=) c.312T= (p.Pro104=) c.486-16863A= (n.486-16863A=) c.297T= (p.Pro99=) | |
9 | g.36246335A>C | CA5056735 | CLTA,GNE | c.405T>G (p.Pro135=) c.135T>G (p.Pro45=) c.312T>G (p.Pro104=) c.486-16863A>C (n.486-16863A>C) c.297T>G (p.Pro99=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246335A>G | CA464619965 | CLTA,GNE | c.405T>C (p.Pro135=) c.135T>C (p.Pro45=) c.312T>C (p.Pro104=) c.486-16863A>G (n.486-16863A>G) c.297T>C (p.Pro99=) | |
9 | g.36246335A>T | CA464619967 | CLTA,GNE | c.405T>A (p.Pro135=) c.135T>A (p.Pro45=) c.312T>A (p.Pro104=) c.486-16863A>T (n.486-16863A>T) c.297T>A (p.Pro99=) | |
9 | g.36246336G>A | CA373419652 | CLTA,GNE | c.404C>T (p.Pro135Leu) c.134C>T (p.Pro45Leu) c.311C>T (p.Pro104Leu) c.486-16862G>A (n.486-16862G>A) c.296C>T (p.Pro99Leu) | dbSNP |
9 | g.36246336G>C | CA373419654 | CLTA,GNE | c.404C>G (p.Pro135Arg) c.134C>G (p.Pro45Arg) c.311C>G (p.Pro104Arg) c.486-16862G>C (n.486-16862G>C) c.296C>G (p.Pro99Arg) | |
9 | g.36246336G= | CA1846320972 | CLTA,GNE | c.404C= (p.Pro135=) c.134C= (p.Pro45=) c.311C= (p.Pro104=) c.486-16862G= (n.486-16862G=) c.296C= (p.Pro99=) | |
9 | g.36246336G>T | CA373419657 | CLTA,GNE | c.404C>A (p.Pro135His) c.134C>A (p.Pro45His) c.311C>A (p.Pro104His) c.486-16862G>T (n.486-16862G>T) c.296C>A (p.Pro99His) | |
9 | g.36246337G>A | CA373419661 | CLTA,GNE | c.403C>T (p.Pro135Ser) c.133C>T (p.Pro45Ser) c.310C>T (p.Pro104Ser) c.486-16861G>A (n.486-16861G>A) c.295C>T (p.Pro99Ser) | |
9 | g.36246337G>C | CA373419663 | CLTA,GNE | c.403C>G (p.Pro135Ala) c.133C>G (p.Pro45Ala) c.310C>G (p.Pro104Ala) c.486-16861G>C (n.486-16861G>C) c.295C>G (p.Pro99Ala) | |
9 | g.36246337G>T | CA373419665 | CLTA,GNE | c.403C>A (p.Pro135Thr) c.133C>A (p.Pro45Thr) c.310C>A (p.Pro104Thr) c.486-16861G>T (n.486-16861G>T) c.295C>A (p.Pro99Thr) | |
9 | g.36246338C>A | CA373419673 | CLTA,GNE | c.402G>T (p.Lys134Asn) c.132G>T (p.Lys44Asn) c.309G>T (p.Lys103Asn) c.486-16860C>A (n.486-16860C>A) c.294G>T (p.Lys98Asn) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246338C= | CA1846320976 | CLTA,GNE | c.402G= (p.Lys134=) c.132G= (p.Lys44=) c.309G= (p.Lys103=) c.486-16860C= (n.486-16860C=) c.294G= (p.Lys98=) | |
9 | g.36246338C>G | CA373419675 | CLTA,GNE | c.402G>C (p.Lys134Asn) c.132G>C (p.Lys44Asn) c.309G>C (p.Lys103Asn) c.486-16860C>G (n.486-16860C>G) c.294G>C (p.Lys98Asn) | |
9 | g.36246338C>T | CA464619975 | CLTA,GNE | c.402G>A (p.Lys134=) c.132G>A (p.Lys44=) c.309G>A (p.Lys103=) c.486-16860C>T (n.486-16860C>T) c.294G>A (p.Lys98=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246339T>A | CA373419678 | CLTA,GNE | c.401A>T (p.Lys134Met) c.131A>T (p.Lys44Met) c.308A>T (p.Lys103Met) c.486-16859T>A (n.486-16859T>A) c.293A>T (p.Lys98Met) | |
9 | g.36246339T>C | CA373419687 | CLTA,GNE | c.401A>G (p.Lys134Arg) c.131A>G (p.Lys44Arg) c.308A>G (p.Lys103Arg) c.486-16859T>C (n.486-16859T>C) c.293A>G (p.Lys98Arg) | |
9 | g.36246339T>G | CA373419681 | CLTA,GNE | c.401A>C (p.Lys134Thr) c.131A>C (p.Lys44Thr) c.308A>C (p.Lys103Thr) c.486-16859T>G (n.486-16859T>G) c.293A>C (p.Lys98Thr) | |
9 | g.36246340T>A | CA373419692 | CLTA,GNE | c.400A>T (p.Lys134Ter) c.130A>T (p.Lys44Ter) c.307A>T (p.Lys103Ter) c.486-16858T>A (n.486-16858T>A) c.292A>T (p.Lys98Ter) | |
9 | g.36246340T>C | CA373419694 | CLTA,GNE | c.400A>G (p.Lys134Glu) c.130A>G (p.Lys44Glu) c.307A>G (p.Lys103Glu) c.486-16858T>C (n.486-16858T>C) c.292A>G (p.Lys98Glu) | |
9 | g.36246340T>G | CA373419696 | CLTA,GNE | c.400A>C (p.Lys134Gln) c.130A>C (p.Lys44Gln) c.307A>C (p.Lys103Gln) c.486-16858T>G (n.486-16858T>G) c.292A>C (p.Lys98Gln) | |
9 | g.36246341C>A | CA464619984 | CLTA,GNE | c.399G>T (p.Leu133=) c.129G>T (p.Leu43=) c.306G>T (p.Leu102=) c.486-16857C>A (n.486-16857C>A) c.291G>T (p.Leu97=) | |
9 | g.36246341C= | CA1846320979 | CLTA,GNE | c.399G= (p.Leu133=) c.129G= (p.Leu43=) c.306G= (p.Leu102=) c.486-16857C= (n.486-16857C=) c.291G= (p.Leu97=) | |
9 | g.36246341C>G | CA464619982 | CLTA,GNE | c.399G>C (p.Leu133=) c.129G>C (p.Leu43=) c.306G>C (p.Leu102=) c.486-16857C>G (n.486-16857C>G) c.291G>C (p.Leu97=) | |
9 | g.36246341C>T | CA5056736 | CLTA,GNE | c.399G>A (p.Leu133=) c.129G>A (p.Leu43=) c.306G>A (p.Leu102=) c.486-16857C>T (n.486-16857C>T) c.291G>A (p.Leu97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246342A= | CA1846320983 | CLTA,GNE | c.398T= (p.Leu133=) c.128T= (p.Leu43=) c.305T= (p.Leu102=) c.486-16856A= (n.486-16856A=) c.290T= (p.Leu97=) | |
9 | g.36246342A>C | CA373419702 | CLTA,GNE | c.398T>G (p.Leu133Arg) c.128T>G (p.Leu43Arg) c.305T>G (p.Leu102Arg) c.486-16856A>C (n.486-16856A>C) c.290T>G (p.Leu97Arg) | |
9 | g.36246342A>G | CA5056737 | CLTA,GNE | c.398T>C (p.Leu133Pro) c.128T>C (p.Leu43Pro) c.305T>C (p.Leu102Pro) c.486-16856A>G (n.486-16856A>G) c.290T>C (p.Leu97Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246342A>T | CA373419706 | CLTA,GNE | c.398T>A (p.Leu133Gln) c.128T>A (p.Leu43Gln) c.305T>A (p.Leu102Gln) c.486-16856A>T (n.486-16856A>T) c.290T>A (p.Leu97Gln) | |
9 | g.36246343G>A | CA464619987 | CLTA,GNE | c.397C>T (p.Leu133=) c.127C>T (p.Leu43=) c.304C>T (p.Leu102=) c.486-16855G>A (n.486-16855G>A) c.289C>T (p.Leu97=) | gnomAD v4 |
9 | g.36246343G>C | CA373419710 | CLTA,GNE | c.397C>G (p.Leu133Val) c.127C>G (p.Leu43Val) c.304C>G (p.Leu102Val) c.486-16855G>C (n.486-16855G>C) c.289C>G (p.Leu97Val) | |
9 | g.36246343G>T | CA373419711 | CLTA,GNE | c.397C>A (p.Leu133Met) c.127C>A (p.Leu43Met) c.304C>A (p.Leu102Met) c.486-16855G>T (n.486-16855G>T) c.289C>A (p.Leu97Met) | |
9 | g.36246344G>A | CA464619989 | CLTA,GNE | c.396C>T (p.Arg132=) c.126C>T (p.Arg42=) c.303C>T (p.Arg101=) c.486-16854G>A (n.486-16854G>A) c.288C>T (p.Arg96=) | |
9 | g.36246344G>C | CA464619991 | CLTA,GNE | c.396C>G (p.Arg132=) c.126C>G (p.Arg42=) c.303C>G (p.Arg101=) c.486-16854G>C (n.486-16854G>C) c.288C>G (p.Arg96=) | ClinVar gnomAD v4 |
9 | g.36246344G>T | CA464619992 | CLTA,GNE | c.396C>A (p.Arg132=) c.126C>A (p.Arg42=) c.303C>A (p.Arg101=) c.486-16854G>T (n.486-16854G>T) c.288C>A (p.Arg96=) | |
9 | g.36246345del | CA2689947827 | CLTA,GNE | c.395del (p.Arg132ProfsTer2) c.125del (p.Arg42ProfsTer2) c.302del (p.Arg101ProfsTer2) c.486-16853del (n.486-16853del) c.287del (p.Arg96ProfsTer2) | gnomAD v4 |
9 | g.36246345C>A | CA373419712 | CLTA,GNE | c.395G>T (p.Arg132Leu) c.125G>T (p.Arg42Leu) c.302G>T (p.Arg101Leu) c.486-16853C>A (n.486-16853C>A) c.287G>T (p.Arg96Leu) | gnomAD v4 |
9 | g.36246345C= | CA1846320990 | CLTA,GNE | c.395G= (p.Arg132=) c.125G= (p.Arg42=) c.302G= (p.Arg101=) c.486-16853C= (n.486-16853C=) c.287G= (p.Arg96=) | |
9 | g.36246345C>G | CA373419713 | CLTA,GNE | c.395G>C (p.Arg132Pro) c.125G>C (p.Arg42Pro) c.302G>C (p.Arg101Pro) c.486-16853C>G (n.486-16853C>G) c.287G>C (p.Arg96Pro) | ClinVar |
9 | g.36246345C>T | CA5056738 | CLTA,GNE | c.395G>A (p.Arg132His) c.125G>A (p.Arg42His) c.302G>A (p.Arg101His) c.486-16853C>T (n.486-16853C>T) c.287G>A (p.Arg96His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246346G>A | CA5056739 | CLTA,GNE | c.394C>T (p.Arg132Cys) c.124C>T (p.Arg42Cys) c.301C>T (p.Arg101Cys) c.486-16852G>A (n.486-16852G>A) c.286C>T (p.Arg96Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246346G>C | CA373419714 | CLTA,GNE | c.394C>G (p.Arg132Gly) c.124C>G (p.Arg42Gly) c.301C>G (p.Arg101Gly) c.486-16852G>C (n.486-16852G>C) c.286C>G (p.Arg96Gly) | |
9 | g.36246346G= | CA1846320995 | CLTA,GNE | c.394C= (p.Arg132=) c.124C= (p.Arg42=) c.301C= (p.Arg101=) c.486-16852G= (n.486-16852G=) c.286C= (p.Arg96=) | |
9 | g.36246346G>T | CA373419715 | CLTA,GNE | c.394C>A (p.Arg132Ser) c.124C>A (p.Arg42Ser) c.301C>A (p.Arg101Ser) c.486-16852G>T (n.486-16852G>T) c.286C>A (p.Arg96Ser) | |
9 | g.36246347A>C | CA373419716 | CLTA,GNE | c.393T>G (p.Asn131Lys) c.123T>G (p.Asn41Lys) c.300T>G (p.Asn100Lys) c.486-16851A>C (n.486-16851A>C) c.285T>G (p.Asn95Lys) | |
9 | g.36246347A>G | CA464620001 | CLTA,GNE | c.393T>C (p.Asn131=) c.123T>C (p.Asn41=) c.300T>C (p.Asn100=) c.486-16851A>G (n.486-16851A>G) c.285T>C (p.Asn95=) | |
9 | g.36246347A>T | CA373419717 | CLTA,GNE | c.393T>A (p.Asn131Lys) c.123T>A (p.Asn41Lys) c.300T>A (p.Asn100Lys) c.486-16851A>T (n.486-16851A>T) c.285T>A (p.Asn95Lys) | |
9 | g.36246348T>A | CA373419720 | CLTA,GNE | c.392A>T (p.Asn131Ile) c.122A>T (p.Asn41Ile) c.299A>T (p.Asn100Ile) c.486-16850T>A (n.486-16850T>A) c.284A>T (p.Asn95Ile) | |
9 | g.36246348T>C | CA373419718 | CLTA,GNE | c.392A>G (p.Asn131Ser) c.122A>G (p.Asn41Ser) c.299A>G (p.Asn100Ser) c.486-16850T>C (n.486-16850T>C) c.284A>G (p.Asn95Ser) | |
9 | g.36246348T>G | CA373419719 | CLTA,GNE | c.392A>C (p.Asn131Thr) c.122A>C (p.Asn41Thr) c.299A>C (p.Asn100Thr) c.486-16850T>G (n.486-16850T>G) c.284A>C (p.Asn95Thr) | |
9 | g.36246349T>A | CA373419721 | CLTA,GNE | c.391A>T (p.Asn131Tyr) c.121A>T (p.Asn41Tyr) c.298A>T (p.Asn100Tyr) c.486-16849T>A (n.486-16849T>A) c.283A>T (p.Asn95Tyr) | |
9 | g.36246349T>C | CA373419722 | CLTA,GNE | c.391A>G (p.Asn131Asp) c.121A>G (p.Asn41Asp) c.298A>G (p.Asn100Asp) c.486-16849T>C (n.486-16849T>C) c.283A>G (p.Asn95Asp) | |
9 | g.36246349T>G | CA373419723 | CLTA,GNE | c.391A>C (p.Asn131His) c.121A>C (p.Asn41His) c.298A>C (p.Asn100His) c.486-16849T>G (n.486-16849T>G) c.283A>C (p.Asn95His) | |
9 | g.36246350A= | CA1846321000 | CLTA,GNE | c.390T= (p.Leu130=) c.120T= (p.Leu40=) c.297T= (p.Leu99=) c.486-16848A= (n.486-16848A=) c.282T= (p.Leu94=) | |
9 | g.36246350A>C | CA10606154 | CLTA,GNE | c.390T>G (p.Leu130=) c.120T>G (p.Leu40=) c.297T>G (p.Leu99=) c.486-16848A>C (n.486-16848A>C) c.282T>G (p.Leu94=) | ClinVar dbSNP |
9 | g.36246350A>G | CA5056740 | CLTA,GNE | c.390T>C (p.Leu130=) c.120T>C (p.Leu40=) c.297T>C (p.Leu99=) c.486-16848A>G (n.486-16848A>G) c.282T>C (p.Leu94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246350A>T | CA464620011 | CLTA,GNE | c.390T>A (p.Leu130=) c.120T>A (p.Leu40=) c.297T>A (p.Leu99=) c.486-16848A>T (n.486-16848A>T) c.282T>A (p.Leu94=) | |
9 | g.36246351A= | CA1846321010 | CLTA,GNE | c.389T= (p.Leu130=) c.119T= (p.Leu40=) c.296T= (p.Leu99=) c.486-16847A= (n.486-16847A=) c.281T= (p.Leu94=) | |
9 | g.36246351A>C | CA373419724 | CLTA,GNE | c.389T>G (p.Leu130Arg) c.119T>G (p.Leu40Arg) c.296T>G (p.Leu99Arg) c.486-16847A>C (n.486-16847A>C) c.281T>G (p.Leu94Arg) | |
9 | g.36246351A>G | CA373419726 | CLTA,GNE | c.389T>C (p.Leu130Pro) c.119T>C (p.Leu40Pro) c.296T>C (p.Leu99Pro) c.486-16847A>G (n.486-16847A>G) c.281T>C (p.Leu94Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246351A>T | CA373419725 | CLTA,GNE | c.389T>A (p.Leu130His) c.119T>A (p.Leu40His) c.296T>A (p.Leu99His) c.486-16847A>T (n.486-16847A>T) c.281T>A (p.Leu94His) | |
9 | g.36246352G>A | CA373419727 | CLTA,GNE | c.388C>T (p.Leu130Phe) c.118C>T (p.Leu40Phe) c.295C>T (p.Leu99Phe) c.486-16846G>A (n.486-16846G>A) c.280C>T (p.Leu94Phe) | |
9 | g.36246352G>C | CA373419729 | CLTA,GNE | c.388C>G (p.Leu130Val) c.118C>G (p.Leu40Val) c.295C>G (p.Leu99Val) c.486-16846G>C (n.486-16846G>C) c.280C>G (p.Leu94Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246352G= | CA1846321016 | CLTA,GNE | c.388C= (p.Leu130=) c.118C= (p.Leu40=) c.295C= (p.Leu99=) c.486-16846G= (n.486-16846G=) c.280C= (p.Leu94=) | |
9 | g.36246352G>T | CA373419730 | CLTA,GNE | c.388C>A (p.Leu130Ile) c.118C>A (p.Leu40Ile) c.295C>A (p.Leu99Ile) c.486-16846G>T (n.486-16846G>T) c.280C>A (p.Leu94Ile) | |
9 | g.36246353G>A | CA464620018 | CLTA,GNE | c.387C>T (p.Val129=) c.117C>T (p.Val39=) c.294C>T (p.Val98=) c.486-16845G>A (n.486-16845G>A) c.279C>T (p.Val93=) | dbSNP gnomAD v4 |
9 | g.36246353G>C | CA464620019 | CLTA,GNE | c.387C>G (p.Val129=) c.117C>G (p.Val39=) c.294C>G (p.Val98=) c.486-16845G>C (n.486-16845G>C) c.279C>G (p.Val93=) | |
9 | g.36246353G= | CA1846321021 | CLTA,GNE | c.387C= (p.Val129=) c.117C= (p.Val39=) c.294C= (p.Val98=) c.486-16845G= (n.486-16845G=) c.279C= (p.Val93=) | |
9 | g.36246353G>T | CA464620020 | CLTA,GNE | c.387C>A (p.Val129=) c.117C>A (p.Val39=) c.294C>A (p.Val98=) c.486-16845G>T (n.486-16845G>T) c.279C>A (p.Val93=) | |
9 | g.36246354A>C | CA373419731 | CLTA,GNE | c.386T>G (p.Val129Gly) c.116T>G (p.Val39Gly) c.293T>G (p.Val98Gly) c.486-16844A>C (n.486-16844A>C) c.278T>G (p.Val93Gly) | |
9 | g.36246354A>G | CA373419732 | CLTA,GNE | c.386T>C (p.Val129Ala) c.116T>C (p.Val39Ala) c.293T>C (p.Val98Ala) c.486-16844A>G (n.486-16844A>G) c.278T>C (p.Val93Ala) | |
9 | g.36246354A>T | CA373419733 | CLTA,GNE | c.386T>A (p.Val129Asp) c.116T>A (p.Val39Asp) c.293T>A (p.Val98Asp) c.486-16844A>T (n.486-16844A>T) c.278T>A (p.Val93Asp) | |
9 | g.36246355C>A | CA373419734 | CLTA,GNE | c.385G>T (p.Val129Phe) c.115G>T (p.Val39Phe) c.292G>T (p.Val98Phe) c.486-16843C>A (n.486-16843C>A) c.277G>T (p.Val93Phe) | |
9 | g.36246355C>G | CA373419735 | CLTA,GNE | c.385G>C (p.Val129Leu) c.115G>C (p.Val39Leu) c.292G>C (p.Val98Leu) c.486-16843C>G (n.486-16843C>G) c.277G>C (p.Val93Leu) | |
9 | g.36246355C>T | CA373419736 | CLTA,GNE | c.385G>A (p.Val129Ile) c.115G>A (p.Val39Ile) c.292G>A (p.Val98Ile) c.486-16843C>T (n.486-16843C>T) c.277G>A (p.Val93Ile) | |
9 | g.36246356A= | CA1846321026 | CLTA,GNE | c.384T= (p.Asp128=) c.114T= (p.Asp38=) c.291T= (p.Asp97=) c.486-16842A= (n.486-16842A=) c.276T= (p.Asp92=) | |
9 | g.36246356A>C | CA373419737 | CLTA,GNE | c.384T>G (p.Asp128Glu) c.114T>G (p.Asp38Glu) c.291T>G (p.Asp97Glu) c.486-16842A>C (n.486-16842A>C) c.276T>G (p.Asp92Glu) | |
9 | g.36246356A>G | CA464620030 | CLTA,GNE | c.384T>C (p.Asp128=) c.114T>C (p.Asp38=) c.291T>C (p.Asp97=) c.486-16842A>G (n.486-16842A>G) c.276T>C (p.Asp92=) | dbSNP |
9 | g.36246356A>T | CA373419738 | CLTA,GNE | c.384T>A (p.Asp128Glu) c.114T>A (p.Asp38Glu) c.291T>A (p.Asp97Glu) c.486-16842A>T (n.486-16842A>T) c.276T>A (p.Asp92Glu) | |
9 | g.36246357T>A | CA373419741 | CLTA,GNE | c.383A>T (p.Asp128Val) c.113A>T (p.Asp38Val) c.290A>T (p.Asp97Val) c.486-16841T>A (n.486-16841T>A) c.275A>T (p.Asp92Val) | |
9 | g.36246357T>C | CA373419740 | CLTA,GNE | c.383A>G (p.Asp128Gly) c.113A>G (p.Asp38Gly) c.290A>G (p.Asp97Gly) c.486-16841T>C (n.486-16841T>C) c.275A>G (p.Asp92Gly) | |
9 | g.36246357T>G | CA373419739 | CLTA,GNE | c.383A>C (p.Asp128Ala) c.113A>C (p.Asp38Ala) c.290A>C (p.Asp97Ala) c.486-16841T>G (n.486-16841T>G) c.275A>C (p.Asp92Ala) | |
9 | g.36246358C>A | CA373419742 | CLTA,GNE | c.382G>T (p.Asp128Tyr) c.112G>T (p.Asp38Tyr) c.289G>T (p.Asp97Tyr) c.486-16840C>A (n.486-16840C>A) c.274G>T (p.Asp92Tyr) | |
9 | g.36246358C>G | CA373419744 | CLTA,GNE | c.382G>C (p.Asp128His) c.112G>C (p.Asp38His) c.289G>C (p.Asp97His) c.486-16840C>G (n.486-16840C>G) c.274G>C (p.Asp92His) | |
9 | g.36246358C>T | CA373419743 | CLTA,GNE | c.382G>A (p.Asp128Asn) c.112G>A (p.Asp38Asn) c.289G>A (p.Asp97Asn) c.486-16840C>T (n.486-16840C>T) c.274G>A (p.Asp92Asn) | gnomAD v4 |
9 | g.36246359T>A | CA464620036 | CLTA,GNE | c.381A>T (p.Pro127=) c.111A>T (p.Pro37=) c.288A>T (p.Pro96=) c.486-16839T>A (n.486-16839T>A) c.273A>T (p.Pro91=) | |
9 | g.36246359T>C | CA464620037 | CLTA,GNE | c.381A>G (p.Pro127=) c.111A>G (p.Pro37=) c.288A>G (p.Pro96=) c.486-16839T>C (n.486-16839T>C) c.273A>G (p.Pro91=) | dbSNP |
9 | g.36246359T>G | CA464620038 | CLTA,GNE | c.381A>C (p.Pro127=) c.111A>C (p.Pro37=) c.288A>C (p.Pro96=) c.486-16839T>G (n.486-16839T>G) c.273A>C (p.Pro91=) | |
9 | g.36246359T= | CA1846321034 | CLTA,GNE | c.381A= (p.Pro127=) c.111A= (p.Pro37=) c.288A= (p.Pro96=) c.486-16839T= (n.486-16839T=) c.273A= (p.Pro91=) | |
9 | g.36246359_36246360delinsTG | CA1846321031 | CLTA,GNE | c.380_381delinsCA (p.Pro127=) c.110_111delinsCA (p.Pro37=) c.287_288delinsCA (p.Pro96=) c.486-16839_486-16838delinsTG (n.486-16839_486-16838delinsTG) c.272_273delinsCA (p.Pro91=) | |
9 | g.36246360G>A | CA373419745 | CLTA,GNE | c.380C>T (p.Pro127Leu) c.110C>T (p.Pro37Leu) c.287C>T (p.Pro96Leu) c.486-16838G>A (n.486-16838G>A) c.272C>T (p.Pro91Leu) | |
9 | g.36246360G>C | CA373419747 | CLTA,GNE | c.380C>G (p.Pro127Arg) c.110C>G (p.Pro37Arg) c.287C>G (p.Pro96Arg) c.486-16838G>C (n.486-16838G>C) c.272C>G (p.Pro91Arg) | |
9 | g.36246360G>T | CA373419746 | CLTA,GNE | c.380C>A (p.Pro127Gln) c.110C>A (p.Pro37Gln) c.287C>A (p.Pro96Gln) c.486-16838G>T (n.486-16838G>T) c.272C>A (p.Pro91Gln) | |
9 | g.36246361del | CA863602855 | CLTA,GNE | c.380del (p.Pro127GlnfsTer7) c.110del (p.Pro37GlnfsTer7) c.287del (p.Pro96GlnfsTer7) c.486-16837del (n.486-16837del) c.272del (p.Pro91GlnfsTer7) | dbSNP |
9 | g.36246361G>A | CA373419748 | CLTA,GNE | c.379C>T (p.Pro127Ser) c.109C>T (p.Pro37Ser) c.286C>T (p.Pro96Ser) c.486-16837G>A (n.486-16837G>A) c.271C>T (p.Pro91Ser) | |
9 | g.36246361G>C | CA373419749 | CLTA,GNE | c.379C>G (p.Pro127Ala) c.109C>G (p.Pro37Ala) c.286C>G (p.Pro96Ala) c.486-16837G>C (n.486-16837G>C) c.271C>G (p.Pro91Ala) | |
9 | g.36246361G>T | CA373419750 | CLTA,GNE | c.379C>A (p.Pro127Thr) c.109C>A (p.Pro37Thr) c.286C>A (p.Pro96Thr) c.486-16837G>T (n.486-16837G>T) c.271C>A (p.Pro91Thr) | |
9 | g.36246362C>A | CA464620047 | CLTA,GNE | c.378G>T (p.Leu126=) c.108G>T (p.Leu36=) c.285G>T (p.Leu95=) c.486-16836C>A (n.486-16836C>A) c.270G>T (p.Leu90=) | |
9 | g.36246362C= | CA1846321042 | CLTA,GNE | c.378G= (p.Leu126=) c.108G= (p.Leu36=) c.285G= (p.Leu95=) c.486-16836C= (n.486-16836C=) c.270G= (p.Leu90=) | |
9 | g.36246362C>G | CA464620049 | CLTA,GNE | c.378G>C (p.Leu126=) c.108G>C (p.Leu36=) c.285G>C (p.Leu95=) c.486-16836C>G (n.486-16836C>G) c.270G>C (p.Leu90=) | |
9 | g.36246362C>T | CA464620050 | CLTA,GNE | c.378G>A (p.Leu126=) c.108G>A (p.Leu36=) c.285G>A (p.Leu95=) c.486-16836C>T (n.486-16836C>T) c.270G>A (p.Leu90=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246363A>C | CA373419751 | CLTA,GNE | c.377T>G (p.Leu126Arg) c.107T>G (p.Leu36Arg) c.284T>G (p.Leu95Arg) c.486-16835A>C (n.486-16835A>C) c.269T>G (p.Leu90Arg) | |
9 | g.36246363A>G | CA373419752 | CLTA,GNE | c.377T>C (p.Leu126Pro) c.107T>C (p.Leu36Pro) c.284T>C (p.Leu95Pro) c.486-16835A>G (n.486-16835A>G) c.269T>C (p.Leu90Pro) | gnomAD v4 |
9 | g.36246363A>T | CA373419753 | CLTA,GNE | c.377T>A (p.Leu126Gln) c.107T>A (p.Leu36Gln) c.284T>A (p.Leu95Gln) c.486-16835A>T (n.486-16835A>T) c.269T>A (p.Leu90Gln) | |
9 | g.36246364G>A | CA464620055 | CLTA,GNE | c.376C>T (p.Leu126=) c.106C>T (p.Leu36=) c.283C>T (p.Leu95=) c.486-16834G>A (n.486-16834G>A) c.268C>T (p.Leu90=) | |
9 | g.36246364G>C | CA373419754 | CLTA,GNE | c.376C>G (p.Leu126Val) c.106C>G (p.Leu36Val) c.283C>G (p.Leu95Val) c.486-16834G>C (n.486-16834G>C) c.268C>G (p.Leu90Val) | |
9 | g.36246364G= | CA1846321044 | CLTA,GNE | c.376C= (p.Leu126=) c.106C= (p.Leu36=) c.283C= (p.Leu95=) c.486-16834G= (n.486-16834G=) c.268C= (p.Leu90=) | |
9 | g.36246364G>T | CA5056741 | CLTA,GNE | c.376C>A (p.Leu126Met) c.106C>A (p.Leu36Met) c.283C>A (p.Leu95Met) c.486-16834G>T (n.486-16834G>T) c.268C>A (p.Leu90Met) | dbSNP ExAC gnomAD v2 |
9 | g.36246365C>A | CA373419755 | CLTA,GNE | c.375G>T (p.Lys125Asn) c.105G>T (p.Lys35Asn) c.282G>T (p.Lys94Asn) c.486-16833C>A (n.486-16833C>A) c.267G>T (p.Lys89Asn) | |
9 | g.36246365C>G | CA373419756 | CLTA,GNE | c.375G>C (p.Lys125Asn) c.105G>C (p.Lys35Asn) c.282G>C (p.Lys94Asn) c.486-16833C>G (n.486-16833C>G) c.267G>C (p.Lys89Asn) | |
9 | g.36246365C>T | CA464620058 | CLTA,GNE | c.375G>A (p.Lys125=) c.105G>A (p.Lys35=) c.282G>A (p.Lys94=) c.486-16833C>T (n.486-16833C>T) c.267G>A (p.Lys89=) | |
9 | g.36246366T>A | CA373419759 | CLTA,GNE | c.374A>T (p.Lys125Met) c.104A>T (p.Lys35Met) c.281A>T (p.Lys94Met) c.486-16832T>A (n.486-16832T>A) c.266A>T (p.Lys89Met) | |
9 | g.36246366T>C | CA373419757 | CLTA,GNE | c.374A>G (p.Lys125Arg) c.104A>G (p.Lys35Arg) c.281A>G (p.Lys94Arg) c.486-16832T>C (n.486-16832T>C) c.266A>G (p.Lys89Arg) | |
9 | g.36246366T>G | CA373419758 | CLTA,GNE | c.374A>C (p.Lys125Thr) c.104A>C (p.Lys35Thr) c.281A>C (p.Lys94Thr) c.486-16832T>G (n.486-16832T>G) c.266A>C (p.Lys89Thr) | |
9 | g.36246367T>A | CA373419760 | CLTA,GNE | c.373A>T (p.Lys125Ter) c.103A>T (p.Lys35Ter) c.280A>T (p.Lys94Ter) c.486-16831T>A (n.486-16831T>A) c.265A>T (p.Lys89Ter) | |
9 | g.36246367T>C | CA373419761 | CLTA,GNE | c.373A>G (p.Lys125Glu) c.103A>G (p.Lys35Glu) c.280A>G (p.Lys94Glu) c.486-16831T>C (n.486-16831T>C) c.265A>G (p.Lys89Glu) | |
9 | g.36246367T>G | CA373419762 | CLTA,GNE | c.373A>C (p.Lys125Gln) c.103A>C (p.Lys35Gln) c.280A>C (p.Lys94Gln) c.486-16831T>G (n.486-16831T>G) c.265A>C (p.Lys89Gln) | |
9 | g.36246368C>A | CA464620063 | CLTA,GNE | c.372G>T (p.Val124=) c.102G>T (p.Val34=) c.279G>T (p.Val93=) c.486-16830C>A (n.486-16830C>A) c.264G>T (p.Val88=) | |
9 | g.36246368C>G | CA464620064 | CLTA,GNE | c.372G>C (p.Val124=) c.102G>C (p.Val34=) c.279G>C (p.Val93=) c.486-16830C>G (n.486-16830C>G) c.264G>C (p.Val88=) | |
9 | g.36246368C>T | CA464620066 | CLTA,GNE | c.372G>A (p.Val124=) c.102G>A (p.Val34=) c.279G>A (p.Val93=) c.486-16830C>T (n.486-16830C>T) c.264G>A (p.Val88=) | |
9 | g.36246369A>C | CA373419763 | CLTA,GNE | c.371T>G (p.Val124Gly) c.101T>G (p.Val34Gly) c.278T>G (p.Val93Gly) c.486-16829A>C (n.486-16829A>C) c.263T>G (p.Val88Gly) | |
9 | g.36246369A>G | CA373419764 | CLTA,GNE | c.371T>C (p.Val124Ala) c.101T>C (p.Val34Ala) c.278T>C (p.Val93Ala) c.486-16829A>G (n.486-16829A>G) c.263T>C (p.Val88Ala) | |
9 | g.36246369A>T | CA373419765 | CLTA,GNE | c.371T>A (p.Val124Glu) c.101T>A (p.Val34Glu) c.278T>A (p.Val93Glu) c.486-16829A>T (n.486-16829A>T) c.263T>A (p.Val88Glu) | |
9 | g.36246370C>A | CA373419766 | CLTA,GNE | c.370G>T (p.Val124Leu) c.100G>T (p.Val34Leu) c.277G>T (p.Val93Leu) c.486-16828C>A (n.486-16828C>A) c.262G>T (p.Val88Leu) | |
9 | g.36246370C>G | CA373419767 | CLTA,GNE | c.370G>C (p.Val124Leu) c.100G>C (p.Val34Leu) c.277G>C (p.Val93Leu) c.486-16828C>G (n.486-16828C>G) c.262G>C (p.Val88Leu) | |
9 | g.36246370C>T | CA373419768 | CLTA,GNE | c.370G>A (p.Val124Met) c.100G>A (p.Val34Met) c.277G>A (p.Val93Met) c.486-16828C>T (n.486-16828C>T) c.262G>A (p.Val88Met) | gnomAD v4 |
9 | g.36246371T>A | CA464620068 | CLTA,GNE | c.369A>T (p.Leu123=) c.99A>T (p.Leu33=) c.276A>T (p.Leu92=) c.486-16827T>A (n.486-16827T>A) c.261A>T (p.Leu87=) | gnomAD v3 gnomAD v4 |
9 | g.36246371T>C | CA464620071 | CLTA,GNE | c.369A>G (p.Leu123=) c.99A>G (p.Leu33=) c.276A>G (p.Leu92=) c.486-16827T>C (n.486-16827T>C) c.261A>G (p.Leu87=) | gnomAD v4 |
9 | g.36246371T>G | CA5056742 | CLTA,GNE | c.369A>C (p.Leu123=) c.99A>C (p.Leu33=) c.276A>C (p.Leu92=) c.486-16827T>G (n.486-16827T>G) c.261A>C (p.Leu87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246371T= | CA1846321047 | CLTA,GNE | c.369A= (p.Leu123=) c.99A= (p.Leu33=) c.276A= (p.Leu92=) c.486-16827T= (n.486-16827T=) c.261A= (p.Leu87=) | |
9 | g.36246372A>C | CA373419770 | CLTA,GNE | c.368T>G (p.Leu123Arg) c.98T>G (p.Leu33Arg) c.275T>G (p.Leu92Arg) c.486-16826A>C (n.486-16826A>C) c.260T>G (p.Leu87Arg) | |
9 | g.36246372A>G | CA373419771 | CLTA,GNE | c.368T>C (p.Leu123Pro) c.98T>C (p.Leu33Pro) c.275T>C (p.Leu92Pro) c.486-16826A>G (n.486-16826A>G) c.260T>C (p.Leu87Pro) | gnomAD v4 |
9 | g.36246372A>T | CA373419769 | CLTA,GNE | c.368T>A (p.Leu123Gln) c.98T>A (p.Leu33Gln) c.275T>A (p.Leu92Gln) c.486-16826A>T (n.486-16826A>T) c.260T>A (p.Leu87Gln) | |
9 | g.36246373G>A | CA464620075 | CLTA,GNE | c.367C>T (p.Leu123=) c.97C>T (p.Leu33=) c.274C>T (p.Leu92=) c.486-16825G>A (n.486-16825G>A) c.259C>T (p.Leu87=) | |
9 | g.36246373G>C | CA373419772 | CLTA,GNE | c.367C>G (p.Leu123Val) c.97C>G (p.Leu33Val) c.274C>G (p.Leu92Val) c.486-16825G>C (n.486-16825G>C) c.259C>G (p.Leu87Val) | |
9 | g.36246373G>T | CA373419773 | CLTA,GNE | c.367C>A (p.Leu123Ile) c.97C>A (p.Leu33Ile) c.274C>A (p.Leu92Ile) c.486-16825G>T (n.486-16825G>T) c.259C>A (p.Leu87Ile) | ClinVar |
9 | g.36246374G>A | CA464620076 | CLTA,GNE | c.366C>T (p.Ala122=) c.96C>T (p.Ala32=) c.273C>T (p.Ala91=) c.486-16824G>A (n.486-16824G>A) c.258C>T (p.Ala86=) | gnomAD v4 |
9 | g.36246374G>C | CA464620077 | CLTA,GNE | c.366C>G (p.Ala122=) c.96C>G (p.Ala32=) c.273C>G (p.Ala91=) c.486-16824G>C (n.486-16824G>C) c.258C>G (p.Ala86=) | |
9 | g.36246374G>T | CA464620078 | CLTA,GNE | c.366C>A (p.Ala122=) c.96C>A (p.Ala32=) c.273C>A (p.Ala91=) c.486-16824G>T (n.486-16824G>T) c.258C>A (p.Ala86=) | |
9 | g.36246375G>A | CA373419774 | CLTA,GNE | c.365C>T (p.Ala122Val) c.95C>T (p.Ala32Val) c.272C>T (p.Ala91Val) c.486-16823G>A (n.486-16823G>A) c.257C>T (p.Ala86Val) | |
9 | g.36246375G>C | CA373419775 | CLTA,GNE | c.365C>G (p.Ala122Gly) c.95C>G (p.Ala32Gly) c.272C>G (p.Ala91Gly) c.486-16823G>C (n.486-16823G>C) c.257C>G (p.Ala86Gly) | |
9 | g.36246375G>T | CA373419776 | CLTA,GNE | c.365C>A (p.Ala122Asp) c.95C>A (p.Ala32Asp) c.272C>A (p.Ala91Asp) c.486-16823G>T (n.486-16823G>T) c.257C>A (p.Ala86Asp) | gnomAD v4 |
9 | g.36246376C>A | CA373419779 | CLTA,GNE | c.364G>T (p.Ala122Ser) c.94G>T (p.Ala32Ser) c.271G>T (p.Ala91Ser) c.486-16822C>A (n.486-16822C>A) c.256G>T (p.Ala86Ser) | |
9 | g.36246376C>G | CA373419777 | CLTA,GNE | c.364G>C (p.Ala122Pro) c.94G>C (p.Ala32Pro) c.271G>C (p.Ala91Pro) c.486-16822C>G (n.486-16822C>G) c.256G>C (p.Ala86Pro) | |
9 | g.36246376C>T | CA373419778 | CLTA,GNE | c.364G>A (p.Ala122Thr) c.94G>A (p.Ala32Thr) c.271G>A (p.Ala91Thr) c.486-16822C>T (n.486-16822C>T) c.256G>A (p.Ala86Thr) | |
9 | g.36246377C>A | CA464620084 | CLTA,GNE | c.363G>T (p.Leu121=) c.93G>T (p.Leu31=) c.270G>T (p.Leu90=) c.486-16821C>A (n.486-16821C>A) c.255G>T (p.Leu85=) | |
9 | g.36246377C>G | CA464620083 | CLTA,GNE | c.363G>C (p.Leu121=) c.93G>C (p.Leu31=) c.270G>C (p.Leu90=) c.486-16821C>G (n.486-16821C>G) c.255G>C (p.Leu85=) | |
9 | g.36246377C>T | CA464620082 | CLTA,GNE | c.363G>A (p.Leu121=) c.93G>A (p.Leu31=) c.270G>A (p.Leu90=) c.486-16821C>T (n.486-16821C>T) c.255G>A (p.Leu85=) | |
9 | g.36246378A= | CA1846321051 | CLTA,GNE | c.362T= (p.Leu121=) c.92T= (p.Leu31=) c.269T= (p.Leu90=) c.486-16820A= (n.486-16820A=) c.254T= (p.Leu85=) | |
9 | g.36246378A>C | CA373419780 | CLTA,GNE | c.362T>G (p.Leu121Arg) c.92T>G (p.Leu31Arg) c.269T>G (p.Leu90Arg) c.486-16820A>C (n.486-16820A>C) c.254T>G (p.Leu85Arg) | |
9 | g.36246378A>G | CA373419781 | CLTA,GNE | c.362T>C (p.Leu121Pro) c.92T>C (p.Leu31Pro) c.269T>C (p.Leu90Pro) c.486-16820A>G (n.486-16820A>G) c.254T>C (p.Leu85Pro) | dbSNP |
9 | g.36246378A>T | CA373419782 | CLTA,GNE | c.362T>A (p.Leu121Gln) c.92T>A (p.Leu31Gln) c.269T>A (p.Leu90Gln) c.486-16820A>T (n.486-16820A>T) c.254T>A (p.Leu85Gln) | |
9 | g.36246379G>A | CA464620086 | CLTA,GNE | c.361C>T (p.Leu121=) c.91C>T (p.Leu31=) c.268C>T (p.Leu90=) c.486-16819G>A (n.486-16819G>A) c.253C>T (p.Leu85=) | |
9 | g.36246379G>C | CA373419783 | CLTA,GNE | c.361C>G (p.Leu121Val) c.91C>G (p.Leu31Val) c.268C>G (p.Leu90Val) c.486-16819G>C (n.486-16819G>C) c.253C>G (p.Leu85Val) | |
9 | g.36246379G>T | CA373419784 | CLTA,GNE | c.361C>A (p.Leu121Met) c.91C>A (p.Leu31Met) c.268C>A (p.Leu90Met) c.486-16819G>T (n.486-16819G>T) c.253C>A (p.Leu85Met) | |
9 | g.36246380G>A | CA464620087 | CLTA,GNE | c.360C>T (p.Gly120=) c.90C>T (p.Gly30=) c.267C>T (p.Gly89=) c.486-16818G>A (n.486-16818G>A) c.252C>T (p.Gly84=) | ClinVar |
9 | g.36246380G>C | CA464620088 | CLTA,GNE | c.360C>G (p.Gly120=) c.90C>G (p.Gly30=) c.267C>G (p.Gly89=) c.486-16818G>C (n.486-16818G>C) c.252C>G (p.Gly84=) | ClinVar gnomAD v4 |
9 | g.36246380G>T | CA464620089 | CLTA,GNE | c.360C>A (p.Gly120=) c.90C>A (p.Gly30=) c.267C>A (p.Gly89=) c.486-16818G>T (n.486-16818G>T) c.252C>A (p.Gly84=) | |
9 | g.36246381C>A | CA373419785 | CLTA,GNE | c.359G>T (p.Gly120Val) c.89G>T (p.Gly30Val) c.266G>T (p.Gly89Val) c.486-16817C>A (n.486-16817C>A) c.251G>T (p.Gly84Val) | gnomAD v4 |
9 | g.36246381C>G | CA373419787 | CLTA,GNE | c.359G>C (p.Gly120Ala) c.89G>C (p.Gly30Ala) c.266G>C (p.Gly89Ala) c.486-16817C>G (n.486-16817C>G) c.251G>C (p.Gly84Ala) | |
9 | g.36246381C>T | CA373419786 | CLTA,GNE | c.359G>A (p.Gly120Asp) c.89G>A (p.Gly30Asp) c.266G>A (p.Gly89Asp) c.486-16817C>T (n.486-16817C>T) c.251G>A (p.Gly84Asp) | |
9 | g.36246382C>A | CA373419788 | CLTA,GNE | c.358G>T (p.Gly120Cys) c.88G>T (p.Gly30Cys) c.265G>T (p.Gly89Cys) c.486-16816C>A (n.486-16816C>A) c.250G>T (p.Gly84Cys) | |
9 | g.36246382C= | CA1846321055 | CLTA,GNE | c.358G= (p.Gly120=) c.88G= (p.Gly30=) c.265G= (p.Gly89=) c.486-16816C= (n.486-16816C=) c.250G= (p.Gly84=) | |
9 | g.36246382C>G | CA373419789 | CLTA,GNE | c.358G>C (p.Gly120Arg) c.88G>C (p.Gly30Arg) c.265G>C (p.Gly89Arg) c.486-16816C>G (n.486-16816C>G) c.250G>C (p.Gly84Arg) | |
9 | g.36246382C>T | CA373419790 | CLTA,GNE | c.358G>A (p.Gly120Ser) c.88G>A (p.Gly30Ser) c.265G>A (p.Gly89Ser) c.486-16816C>T (n.486-16816C>T) c.250G>A (p.Gly84Ser) | ClinVar dbSNP gnomAD v4 |
9 | g.36246383T>A | CA464620093 | CLTA,GNE | c.357A>T (p.Val119=) c.87A>T (p.Val29=) c.264A>T (p.Val88=) c.486-16815T>A (n.486-16815T>A) c.249A>T (p.Val83=) | |
9 | g.36246383T>C | CA464620094 | CLTA,GNE | c.357A>G (p.Val119=) c.87A>G (p.Val29=) c.264A>G (p.Val88=) c.486-16815T>C (n.486-16815T>C) c.249A>G (p.Val83=) | |
9 | g.36246383T>G | CA464620095 | CLTA,GNE | c.357A>C (p.Val119=) c.87A>C (p.Val29=) c.264A>C (p.Val88=) c.486-16815T>G (n.486-16815T>G) c.249A>C (p.Val83=) | |
9 | g.36246384A>C | CA373419791 | CLTA,GNE | c.356T>G (p.Val119Gly) c.86T>G (p.Val29Gly) c.263T>G (p.Val88Gly) c.486-16814A>C (n.486-16814A>C) c.248T>G (p.Val83Gly) | |
9 | g.36246384A>G | CA373419792 | CLTA,GNE | c.356T>C (p.Val119Ala) c.86T>C (p.Val29Ala) c.263T>C (p.Val88Ala) c.486-16814A>G (n.486-16814A>G) c.248T>C (p.Val83Ala) | |
9 | g.36246384A>T | CA373419793 | CLTA,GNE | c.356T>A (p.Val119Glu) c.86T>A (p.Val29Glu) c.263T>A (p.Val88Glu) c.486-16814A>T (n.486-16814A>T) c.248T>A (p.Val83Glu) | |
9 | g.36246385C>A | CA373419794 | CLTA,GNE | c.355G>T (p.Val119Leu) c.85G>T (p.Val29Leu) c.262G>T (p.Val88Leu) c.486-16813C>A (n.486-16813C>A) c.247G>T (p.Val83Leu) | |
9 | g.36246385C>G | CA373419795 | CLTA,GNE | c.355G>C (p.Val119Leu) c.85G>C (p.Val29Leu) c.262G>C (p.Val88Leu) c.486-16813C>G (n.486-16813C>G) c.247G>C (p.Val83Leu) | |
9 | g.36246385C>T | CA373419796 | CLTA,GNE | c.355G>A (p.Val119Ile) c.85G>A (p.Val29Ile) c.262G>A (p.Val88Ile) c.486-16813C>T (n.486-16813C>T) c.247G>A (p.Val83Ile) | gnomAD v4 |
9 | g.36246386T>A | CA464620096 | CLTA,GNE | c.354A>T (p.Ser118=) c.84A>T (p.Ser28=) c.261A>T (p.Ser87=) c.486-16812T>A (n.486-16812T>A) c.246A>T (p.Ser82=) | |
9 | g.36246386T>C | CA464620097 | CLTA,GNE | c.354A>G (p.Ser118=) c.84A>G (p.Ser28=) c.261A>G (p.Ser87=) c.486-16812T>C (n.486-16812T>C) c.246A>G (p.Ser82=) | |
9 | g.36246386T>G | CA464620098 | CLTA,GNE | c.354A>C (p.Ser118=) c.84A>C (p.Ser28=) c.261A>C (p.Ser87=) c.486-16812T>G (n.486-16812T>G) c.246A>C (p.Ser82=) | |
9 | g.36246387G>A | CA373419797 | CLTA,GNE | c.353C>T (p.Ser118Leu) c.83C>T (p.Ser28Leu) c.260C>T (p.Ser87Leu) c.486-16811G>A (n.486-16811G>A) c.245C>T (p.Ser82Leu) | |
9 | g.36246387G>C | CA373419798 | CLTA,GNE | c.353C>G (p.Ser118Ter) c.83C>G (p.Ser28Ter) c.260C>G (p.Ser87Ter) c.486-16811G>C (n.486-16811G>C) c.245C>G (p.Ser82Ter) | gnomAD v4 |
9 | g.36246387G>T | CA373419799 | CLTA,GNE | c.353C>A (p.Ser118Ter) c.83C>A (p.Ser28Ter) c.260C>A (p.Ser87Ter) c.486-16811G>T (n.486-16811G>T) c.245C>A (p.Ser82Ter) | |
9 | g.36246388A>C | CA373419801 | CLTA,GNE | c.352T>G (p.Ser118Ala) c.82T>G (p.Ser28Ala) c.259T>G (p.Ser87Ala) c.486-16810A>C (n.486-16810A>C) c.244T>G (p.Ser82Ala) | |
9 | g.36246388A>G | CA373419802 | CLTA,GNE | c.352T>C (p.Ser118Pro) c.82T>C (p.Ser28Pro) c.259T>C (p.Ser87Pro) c.486-16810A>G (n.486-16810A>G) c.244T>C (p.Ser82Pro) | |
9 | g.36246388A>T | CA373419800 | CLTA,GNE | c.352T>A (p.Ser118Thr) c.82T>A (p.Ser28Thr) c.259T>A (p.Ser87Thr) c.486-16810A>T (n.486-16810A>T) c.244T>A (p.Ser82Thr) | |
9 | g.36246389C>A | CA373419804 | CLTA,GNE | c.351G>T (p.Glu117Asp) c.81G>T (p.Glu27Asp) c.258G>T (p.Glu86Asp) c.486-16809C>A (n.486-16809C>A) c.243G>T (p.Glu81Asp) | |
9 | g.36246389C>G | CA373419803 | CLTA,GNE | c.351G>C (p.Glu117Asp) c.81G>C (p.Glu27Asp) c.258G>C (p.Glu86Asp) c.486-16809C>G (n.486-16809C>G) c.243G>C (p.Glu81Asp) | gnomAD v4 |
9 | g.36246389C>T | CA464620104 | CLTA,GNE | c.351G>A (p.Glu117=) c.81G>A (p.Glu27=) c.258G>A (p.Glu86=) c.486-16809C>T (n.486-16809C>T) c.243G>A (p.Glu81=) | |
9 | g.36246390T>A | CA373419805 | CLTA,GNE | c.350A>T (p.Glu117Val) c.80A>T (p.Glu27Val) c.257A>T (p.Glu86Val) c.486-16808T>A (n.486-16808T>A) c.242A>T (p.Glu81Val) | |
9 | g.36246390T>C | CA373419806 | CLTA,GNE | c.350A>G (p.Glu117Gly) c.80A>G (p.Glu27Gly) c.257A>G (p.Glu86Gly) c.486-16808T>C (n.486-16808T>C) c.242A>G (p.Glu81Gly) | |
9 | g.36246390T>G | CA373419807 | CLTA,GNE | c.350A>C (p.Glu117Ala) c.80A>C (p.Glu27Ala) c.257A>C (p.Glu86Ala) c.486-16808T>G (n.486-16808T>G) c.242A>C (p.Glu81Ala) | ClinVar dbSNP |
9 | g.36246391C>A | CA373419808 | CLTA,GNE | c.349G>T (p.Glu117Ter) c.79G>T (p.Glu27Ter) c.256G>T (p.Glu86Ter) c.486-16807C>A (n.486-16807C>A) c.241G>T (p.Glu81Ter) | |
9 | g.36246391C>G | CA373419809 | CLTA,GNE | c.349G>C (p.Glu117Gln) c.79G>C (p.Glu27Gln) c.256G>C (p.Glu86Gln) c.486-16807C>G (n.486-16807C>G) c.241G>C (p.Glu81Gln) | |
9 | g.36246391C>T | CA373419810 | CLTA,GNE | c.349G>A (p.Glu117Lys) c.79G>A (p.Glu27Lys) c.256G>A (p.Glu86Lys) c.486-16807C>T (n.486-16807C>T) c.241G>A (p.Glu81Lys) | |
9 | g.36246392C>A | CA464620106 | CLTA,GNE | c.348G>T (p.Val116=) c.78G>T (p.Val26=) c.255G>T (p.Val85=) c.486-16806C>A (n.486-16806C>A) c.240G>T (p.Val80=) | |
9 | g.36246392C>G | CA464620107 | CLTA,GNE | c.348G>C (p.Val116=) c.78G>C (p.Val26=) c.255G>C (p.Val85=) c.486-16806C>G (n.486-16806C>G) c.240G>C (p.Val80=) | |
9 | g.36246392C>T | CA464620108 | CLTA,GNE | c.348G>A (p.Val116=) c.78G>A (p.Val26=) c.255G>A (p.Val85=) c.486-16806C>T (n.486-16806C>T) c.240G>A (p.Val80=) | ClinVar dbSNP |
9 | g.36246393A= | CA1846321064 | CLTA,GNE | c.347T= (p.Val116=) c.77T= (p.Val26=) c.254T= (p.Val85=) c.486-16805A= (n.486-16805A=) c.239T= (p.Val80=) | |
9 | g.36246393A>C | CA373419811 | CLTA,GNE | c.347T>G (p.Val116Gly) c.77T>G (p.Val26Gly) c.254T>G (p.Val85Gly) c.486-16805A>C (n.486-16805A>C) c.239T>G (p.Val80Gly) | dbSNP |
9 | g.36246393A>G | CA373419812 | CLTA,GNE | c.347T>C (p.Val116Ala) c.77T>C (p.Val26Ala) c.254T>C (p.Val85Ala) c.486-16805A>G (n.486-16805A>G) c.239T>C (p.Val80Ala) | |
9 | g.36246393A>T | CA373419813 | CLTA,GNE | c.347T>A (p.Val116Glu) c.77T>A (p.Val26Glu) c.254T>A (p.Val85Glu) c.486-16805A>T (n.486-16805A>T) c.239T>A (p.Val80Glu) | |
9 | g.36246394C>A | CA373419814 | CLTA,GNE | c.346G>T (p.Val116Leu) c.76G>T (p.Val26Leu) c.253G>T (p.Val85Leu) c.486-16804C>A (n.486-16804C>A) c.238G>T (p.Val80Leu) | |
9 | g.36246394C= | CA1846321069 | CLTA,GNE | c.346G= (p.Val116=) c.76G= (p.Val26=) c.253G= (p.Val85=) c.486-16804C= (n.486-16804C=) c.238G= (p.Val80=) | |
9 | g.36246394C>G | CA373419815 | CLTA,GNE | c.346G>C (p.Val116Leu) c.76G>C (p.Val26Leu) c.253G>C (p.Val85Leu) c.486-16804C>G (n.486-16804C>G) c.238G>C (p.Val80Leu) | |
9 | g.36246394C>T | CA373419816 | CLTA,GNE | c.346G>A (p.Val116Met) c.76G>A (p.Val26Met) c.253G>A (p.Val85Met) c.486-16804C>T (n.486-16804C>T) c.238G>A (p.Val80Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246395C>A | CA373419819 | CLTA,GNE | c.345G>T (p.Met115Ile) c.75G>T (p.Met25Ile) c.252G>T (p.Met84Ile) c.486-16803C>A (n.486-16803C>A) c.237G>T (p.Met79Ile) | |
9 | g.36246395C>G | CA373419817 | CLTA,GNE | c.345G>C (p.Met115Ile) c.75G>C (p.Met25Ile) c.252G>C (p.Met84Ile) c.486-16803C>G (n.486-16803C>G) c.237G>C (p.Met79Ile) | |
9 | g.36246395C>T | CA373419818 | CLTA,GNE | c.345G>A (p.Met115Ile) c.75G>A (p.Met25Ile) c.252G>A (p.Met84Ile) c.486-16803C>T (n.486-16803C>T) c.237G>A (p.Met79Ile) | |
9 | g.36246396A>C | CA373419820 | CLTA,GNE | c.344T>G (p.Met115Arg) c.74T>G (p.Met25Arg) c.251T>G (p.Met84Arg) c.486-16802A>C (n.486-16802A>C) c.236T>G (p.Met79Arg) | |
9 | g.36246396A>G | CA373419821 | CLTA,GNE | c.344T>C (p.Met115Thr) c.74T>C (p.Met25Thr) c.251T>C (p.Met84Thr) c.486-16802A>G (n.486-16802A>G) c.236T>C (p.Met79Thr) | |
9 | g.36246396A>T | CA373419822 | CLTA,GNE | c.344T>A (p.Met115Lys) c.74T>A (p.Met25Lys) c.251T>A (p.Met84Lys) c.486-16802A>T (n.486-16802A>T) c.236T>A (p.Met79Lys) | |
9 | g.36246397T>A | CA373419823 | CLTA,GNE | c.343A>T (p.Met115Leu) c.73A>T (p.Met25Leu) c.250A>T (p.Met84Leu) c.486-16801T>A (n.486-16801T>A) c.235A>T (p.Met79Leu) | |
9 | g.36246397T>C | CA373419824 | CLTA,GNE | c.343A>G (p.Met115Val) c.73A>G (p.Met25Val) c.250A>G (p.Met84Val) c.486-16801T>C (n.486-16801T>C) c.235A>G (p.Met79Val) | gnomAD v4 |
9 | g.36246397T>G | CA373419825 | CLTA,GNE | c.343A>C (p.Met115Leu) c.73A>C (p.Met25Leu) c.250A>C (p.Met84Leu) c.486-16801T>G (n.486-16801T>G) c.235A>C (p.Met79Leu) | |
9 | g.36246398G>A | CA464620115 | CLTA,GNE | c.342C>T (p.Ala114=) c.72C>T (p.Ala24=) c.249C>T (p.Ala83=) c.486-16800G>A (n.486-16800G>A) c.234C>T (p.Ala78=) | gnomAD v4 |
9 | g.36246398G>C | CA464620117 | CLTA,GNE | c.342C>G (p.Ala114=) c.72C>G (p.Ala24=) c.249C>G (p.Ala83=) c.486-16800G>C (n.486-16800G>C) c.234C>G (p.Ala78=) | |
9 | g.36246398G>T | CA464620116 | CLTA,GNE | c.342C>A (p.Ala114=) c.72C>A (p.Ala24=) c.249C>A (p.Ala83=) c.486-16800G>T (n.486-16800G>T) c.234C>A (p.Ala78=) | gnomAD v4 |
9 | g.36246399G>A | CA373419826 | CLTA,GNE | c.341C>T (p.Ala114Val) c.71C>T (p.Ala24Val) c.248C>T (p.Ala83Val) c.486-16799G>A (n.486-16799G>A) c.233C>T (p.Ala78Val) | |
9 | g.36246399G>C | CA373419827 | CLTA,GNE | c.341C>G (p.Ala114Gly) c.71C>G (p.Ala24Gly) c.248C>G (p.Ala83Gly) c.486-16799G>C (n.486-16799G>C) c.233C>G (p.Ala78Gly) | |
9 | g.36246399G>T | CA373419828 | CLTA,GNE | c.341C>A (p.Ala114Asp) c.71C>A (p.Ala24Asp) c.248C>A (p.Ala83Asp) c.486-16799G>T (n.486-16799G>T) c.233C>A (p.Ala78Asp) | |
9 | g.36246400C>A | CA373419829 | CLTA,GNE | c.340G>T (p.Ala114Ser) c.70G>T (p.Ala24Ser) c.247G>T (p.Ala83Ser) c.486-16798C>A (n.486-16798C>A) c.232G>T (p.Ala78Ser) | |
9 | g.36246400C= | CA1846321072 | CLTA,GNE | c.340G= (p.Ala114=) c.70G= (p.Ala24=) c.247G= (p.Ala83=) c.486-16798C= (n.486-16798C=) c.232G= (p.Ala78=) | |
9 | g.36246400C>G | CA373419830 | CLTA,GNE | c.340G>C (p.Ala114Pro) c.70G>C (p.Ala24Pro) c.247G>C (p.Ala83Pro) c.486-16798C>G (n.486-16798C>G) c.232G>C (p.Ala78Pro) | |
9 | g.36246400C>T | CA373419831 | CLTA,GNE | c.340G>A (p.Ala114Thr) c.70G>A (p.Ala24Thr) c.247G>A (p.Ala83Thr) c.486-16798C>T (n.486-16798C>T) c.232G>A (p.Ala78Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246401T>A | CA464620121 | CLTA,GNE | c.339A>T (p.Ala113=) c.69A>T (p.Ala23=) c.246A>T (p.Ala82=) c.486-16797T>A (n.486-16797T>A) c.231A>T (p.Ala77=) | |
9 | g.36246401T>C | CA464620123 | CLTA,GNE | c.339A>G (p.Ala113=) c.69A>G (p.Ala23=) c.246A>G (p.Ala82=) c.486-16797T>C (n.486-16797T>C) c.231A>G (p.Ala77=) | ClinVar dbSNP |
9 | g.36246401T>G | CA464620124 | CLTA,GNE | c.339A>C (p.Ala113=) c.69A>C (p.Ala23=) c.246A>C (p.Ala82=) c.486-16797T>G (n.486-16797T>G) c.231A>C (p.Ala77=) | gnomAD v4 |
9 | g.36246401dup | CA2689947828 | CLTA,GNE | c.339dup (p.Ala114SerfsTer18) c.69dup (p.Ala24SerfsTer18) c.246dup (p.Ala83SerfsTer18) c.486-16797dup (n.486-16797dup) c.231dup (p.Ala78SerfsTer18) | gnomAD v4 |
9 | g.36246402G>A | CA373419834 | CLTA,GNE | c.338C>T (p.Ala113Val) c.68C>T (p.Ala23Val) c.245C>T (p.Ala82Val) c.486-16796G>A (n.486-16796G>A) c.230C>T (p.Ala77Val) | |
9 | g.36246402G>C | CA373419833 | CLTA,GNE | c.338C>G (p.Ala113Gly) c.68C>G (p.Ala23Gly) c.245C>G (p.Ala82Gly) c.486-16796G>C (n.486-16796G>C) c.230C>G (p.Ala77Gly) | |
9 | g.36246402G>T | CA373419832 | CLTA,GNE | c.338C>A (p.Ala113Glu) c.68C>A (p.Ala23Glu) c.245C>A (p.Ala82Glu) c.486-16796G>T (n.486-16796G>T) c.230C>A (p.Ala77Glu) | |
9 | g.36246403C>A | CA373419835 | CLTA,GNE | c.337G>T (p.Ala113Ser) c.67G>T (p.Ala23Ser) c.244G>T (p.Ala82Ser) c.486-16795C>A (n.486-16795C>A) c.229G>T (p.Ala77Ser) | |
9 | g.36246403C>G | CA373419836 | CLTA,GNE | c.337G>C (p.Ala113Pro) c.67G>C (p.Ala23Pro) c.244G>C (p.Ala82Pro) c.486-16795C>G (n.486-16795C>G) c.229G>C (p.Ala77Pro) | |
9 | g.36246403C>T | CA373419837 | CLTA,GNE | c.337G>A (p.Ala113Thr) c.67G>A (p.Ala23Thr) c.244G>A (p.Ala82Thr) c.486-16795C>T (n.486-16795C>T) c.229G>A (p.Ala77Thr) | |
9 | g.36246404C>A | CA373419838 | CLTA,GNE | c.336G>T (p.Glu112Asp) c.66G>T (p.Glu22Asp) c.243G>T (p.Glu81Asp) c.486-16794C>A (n.486-16794C>A) c.228G>T (p.Glu76Asp) | |
9 | g.36246404C>G | CA373419839 | CLTA,GNE | c.336G>C (p.Glu112Asp) c.66G>C (p.Glu22Asp) c.243G>C (p.Glu81Asp) c.486-16794C>G (n.486-16794C>G) c.228G>C (p.Glu76Asp) | gnomAD v4 |
9 | g.36246404C>T | CA464620126 | CLTA,GNE | c.336G>A (p.Glu112=) c.66G>A (p.Glu22=) c.243G>A (p.Glu81=) c.486-16794C>T (n.486-16794C>T) c.228G>A (p.Glu76=) | ClinVar |
9 | g.36246405T>A | CA373419841 | CLTA,GNE | c.335A>T (p.Glu112Val) c.65A>T (p.Glu22Val) c.242A>T (p.Glu81Val) c.486-16793T>A (n.486-16793T>A) c.227A>T (p.Glu76Val) | |
9 | g.36246405T>C | CA373419840 | CLTA,GNE | c.335A>G (p.Glu112Gly) c.65A>G (p.Glu22Gly) c.242A>G (p.Glu81Gly) c.486-16793T>C (n.486-16793T>C) c.227A>G (p.Glu76Gly) | gnomAD v4 |
9 | g.36246405T>G | CA5056743 | CLTA,GNE | c.335A>C (p.Glu112Ala) c.65A>C (p.Glu22Ala) c.242A>C (p.Glu81Ala) c.486-16793T>G (n.486-16793T>G) c.227A>C (p.Glu76Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246405T= | CA1846321076 | CLTA,GNE | c.335A= (p.Glu112=) c.65A= (p.Glu22=) c.242A= (p.Glu81=) c.486-16793T= (n.486-16793T=) c.227A= (p.Glu76=) | |
9 | g.36246406C>A | CA373419842 | CLTA,GNE | c.334G>T (p.Glu112Ter) c.64G>T (p.Glu22Ter) c.241G>T (p.Glu81Ter) c.486-16792C>A (n.486-16792C>A) c.226G>T (p.Glu76Ter) | dbSNP |
9 | g.36246406C= | CA1846321080 | CLTA,GNE | c.334G= (p.Glu112=) c.64G= (p.Glu22=) c.241G= (p.Glu81=) c.486-16792C= (n.486-16792C=) c.226G= (p.Glu76=) | |
9 | g.36246406C>G | CA373419843 | CLTA,GNE | c.334G>C (p.Glu112Gln) c.64G>C (p.Glu22Gln) c.241G>C (p.Glu81Gln) c.486-16792C>G (n.486-16792C>G) c.226G>C (p.Glu76Gln) | |
9 | g.36246406C>T | CA373419844 | CLTA,GNE | c.334G>A (p.Glu112Lys) c.64G>A (p.Glu22Lys) c.241G>A (p.Glu81Lys) c.486-16792C>T (n.486-16792C>T) c.226G>A (p.Glu76Lys) | dbSNP |
9 | g.36246407A= | CA1846321084 | CLTA,GNE | c.333T= (p.Asp111=) c.63T= (p.Asp21=) c.240T= (p.Asp80=) c.486-16791A= (n.486-16791A=) c.225T= (p.Asp75=) | |
9 | g.36246407A>C | CA373419845 | CLTA,GNE | c.333T>G (p.Asp111Glu) c.63T>G (p.Asp21Glu) c.240T>G (p.Asp80Glu) c.486-16791A>C (n.486-16791A>C) c.225T>G (p.Asp75Glu) | |
9 | g.36246407A>G | CA5056744 | CLTA,GNE | c.333T>C (p.Asp111=) c.63T>C (p.Asp21=) c.240T>C (p.Asp80=) c.486-16791A>G (n.486-16791A>G) c.225T>C (p.Asp75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246407A>T | CA373419846 | CLTA,GNE | c.333T>A (p.Asp111Glu) c.63T>A (p.Asp21Glu) c.240T>A (p.Asp80Glu) c.486-16791A>T (n.486-16791A>T) c.225T>A (p.Asp75Glu) | |
9 | g.36246408T>A | CA373419847 | CLTA,GNE | c.332A>T (p.Asp111Val) c.62A>T (p.Asp21Val) c.239A>T (p.Asp80Val) c.486-16790T>A (n.486-16790T>A) c.224A>T (p.Asp75Val) | |
9 | g.36246408T>C | CA373419849 | CLTA,GNE | c.332A>G (p.Asp111Gly) c.62A>G (p.Asp21Gly) c.239A>G (p.Asp80Gly) c.486-16790T>C (n.486-16790T>C) c.224A>G (p.Asp75Gly) | gnomAD v4 |
9 | g.36246408T>G | CA373419848 | CLTA,GNE | c.332A>C (p.Asp111Ala) c.62A>C (p.Asp21Ala) c.239A>C (p.Asp80Ala) c.486-16790T>G (n.486-16790T>G) c.224A>C (p.Asp75Ala) | |
9 | g.36246411_36246413del | CA2580616200 | CLTA,GNE | c.330_332del (p.Glu110del) c.60_62del (p.Glu20del) c.237_239del (p.Glu79del) c.486-16787_486-16785del (n.486-16787_486-16785del) c.222_224del (p.Glu74del) | ClinVar gnomAD v4 |
9 | g.36246409C>A | CA373419850 | CLTA,GNE | c.331G>T (p.Asp111Tyr) c.61G>T (p.Asp21Tyr) c.238G>T (p.Asp80Tyr) c.486-16789C>A (n.486-16789C>A) c.223G>T (p.Asp75Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246409C= | CA1846321087 | CLTA,GNE | c.331G= (p.Asp111=) c.61G= (p.Asp21=) c.238G= (p.Asp80=) c.486-16789C= (n.486-16789C=) c.223G= (p.Asp75=) | |
9 | g.36246409C>G | CA373419851 | CLTA,GNE | c.331G>C (p.Asp111His) c.61G>C (p.Asp21His) c.238G>C (p.Asp80His) c.486-16789C>G (n.486-16789C>G) c.223G>C (p.Asp75His) | |
9 | g.36246409C>T | CA373419852 | CLTA,GNE | c.331G>A (p.Asp111Asn) c.61G>A (p.Asp21Asn) c.238G>A (p.Asp80Asn) c.486-16789C>T (n.486-16789C>T) c.223G>A (p.Asp75Asn) | |
9 | g.36246410T>A | CA373419853 | CLTA,GNE | c.330A>T (p.Glu110Asp) c.60A>T (p.Glu20Asp) c.237A>T (p.Glu79Asp) c.486-16788T>A (n.486-16788T>A) c.222A>T (p.Glu74Asp) | |
9 | g.36246410T>C | CA464620133 | CLTA,GNE | c.330A>G (p.Glu110=) c.60A>G (p.Glu20=) c.237A>G (p.Glu79=) c.486-16788T>C (n.486-16788T>C) c.222A>G (p.Glu74=) | |
9 | g.36246410T>G | CA373419854 | CLTA,GNE | c.330A>C (p.Glu110Asp) c.60A>C (p.Glu20Asp) c.237A>C (p.Glu79Asp) c.486-16788T>G (n.486-16788T>G) c.222A>C (p.Glu74Asp) | |
9 | g.36246411T>A | CA373419855 | CLTA,GNE | c.329A>T (p.Glu110Val) c.59A>T (p.Glu20Val) c.236A>T (p.Glu79Val) c.486-16787T>A (n.486-16787T>A) c.221A>T (p.Glu74Val) | |
9 | g.36246411T>C | CA373419856 | CLTA,GNE | c.329A>G (p.Glu110Gly) c.59A>G (p.Glu20Gly) c.236A>G (p.Glu79Gly) c.486-16787T>C (n.486-16787T>C) c.221A>G (p.Glu74Gly) | |
9 | g.36246411T>G | CA373419857 | CLTA,GNE | c.329A>C (p.Glu110Ala) c.59A>C (p.Glu20Ala) c.236A>C (p.Glu79Ala) c.486-16787T>G (n.486-16787T>G) c.221A>C (p.Glu74Ala) | |
9 | g.36246413_36246414del | CA1123252992 | CLTA,GNE | c.328_329del (p.Glu110ArgfsTer2) c.58_59del (p.Glu20ArgfsTer2) c.235_236del (p.Glu79ArgfsTer2) c.486-16785_486-16784del (n.486-16785_486-16784del) c.220_221del (p.Glu74ArgfsTer2) | gnomAD v3 gnomAD v4 |
9 | g.36246412C>A | CA373419858 | CLTA,GNE | c.328G>T (p.Glu110Ter) c.58G>T (p.Glu20Ter) c.235G>T (p.Glu79Ter) c.486-16786C>A (n.486-16786C>A) c.220G>T (p.Glu74Ter) | |
9 | g.36246412C>G | CA373419859 | CLTA,GNE | c.328G>C (p.Glu110Gln) c.58G>C (p.Glu20Gln) c.235G>C (p.Glu79Gln) c.486-16786C>G (n.486-16786C>G) c.220G>C (p.Glu74Gln) | |
9 | g.36246412C>T | CA373419860 | CLTA,GNE | c.328G>A (p.Glu110Lys) c.58G>A (p.Glu20Lys) c.235G>A (p.Glu79Lys) c.486-16786C>T (n.486-16786C>T) c.220G>A (p.Glu74Lys) | |
9 | g.36246413T>A | CA464620136 | CLTA,GNE | c.327A>T (p.Gly109=) c.57A>T (p.Gly19=) c.234A>T (p.Gly78=) c.486-16785T>A (n.486-16785T>A) c.219A>T (p.Gly73=) | |
9 | g.36246413T>C | CA464620137 | CLTA,GNE | c.327A>G (p.Gly109=) c.57A>G (p.Gly19=) c.234A>G (p.Gly78=) c.486-16785T>C (n.486-16785T>C) c.219A>G (p.Gly73=) | |
9 | g.36246413T>G | CA464620138 | CLTA,GNE | c.327A>C (p.Gly109=) c.57A>C (p.Gly19=) c.234A>C (p.Gly78=) c.486-16785T>G (n.486-16785T>G) c.219A>C (p.Gly73=) | |
9 | g.36246414C>A | CA373419862 | CLTA,GNE | c.326G>T (p.Gly109Val) c.56G>T (p.Gly19Val) c.233G>T (p.Gly78Val) c.486-16784C>A (n.486-16784C>A) c.218G>T (p.Gly73Val) | |
9 | g.36246414C= | CA1846321096 | CLTA,GNE | c.326G= (p.Gly109=) c.56G= (p.Gly19=) c.233G= (p.Gly78=) c.486-16784C= (n.486-16784C=) c.218G= (p.Gly73=) | |
9 | g.36246414C>G | CA373419861 | CLTA,GNE | c.326G>C (p.Gly109Ala) c.56G>C (p.Gly19Ala) c.233G>C (p.Gly78Ala) c.486-16784C>G (n.486-16784C>G) c.218G>C (p.Gly73Ala) | |
9 | g.36246414C>T | CA10605580 | CLTA,GNE | c.326G>A (p.Gly109Glu) c.56G>A (p.Gly19Glu) c.233G>A (p.Gly78Glu) c.486-16784C>T (n.486-16784C>T) c.218G>A (p.Gly73Glu) | ClinVar dbSNP gnomAD v4 |
9 | g.36246415C>A | CA373419863 | CLTA,GNE | c.325G>T (p.Gly109Ter) c.55G>T (p.Gly19Ter) c.232G>T (p.Gly78Ter) c.486-16783C>A (n.486-16783C>A) c.217G>T (p.Gly73Ter) | |
9 | g.36246415C>G | CA373419865 | CLTA,GNE | c.325G>C (p.Gly109Arg) c.55G>C (p.Gly19Arg) c.232G>C (p.Gly78Arg) c.486-16783C>G (n.486-16783C>G) c.217G>C (p.Gly73Arg) | |
9 | g.36246415C>T | CA373419864 | CLTA,GNE | c.325G>A (p.Gly109Arg) c.55G>A (p.Gly19Arg) c.232G>A (p.Gly78Arg) c.486-16783C>T (n.486-16783C>T) c.217G>A (p.Gly73Arg) | |
9 | g.36246416C>A | CA192828409 | CLTA,GNE | c.324G>T (p.Arg108Ser) c.54G>T (p.Arg18Ser) c.231G>T (p.Arg77Ser) c.486-16782C>A (n.486-16782C>A) c.216G>T (p.Arg72Ser) | dbSNP |
9 | g.36246416C= | CA1846321099 | CLTA,GNE | c.324G= (p.Arg108=) c.54G= (p.Arg18=) c.231G= (p.Arg77=) c.486-16782C= (n.486-16782C=) c.216G= (p.Arg72=) | |
9 | g.36246416C>G | CA373419866 | CLTA,GNE | c.324G>C (p.Arg108Ser) c.54G>C (p.Arg18Ser) c.231G>C (p.Arg77Ser) c.486-16782C>G (n.486-16782C>G) c.216G>C (p.Arg72Ser) | |
9 | g.36246416C>T | CA464620142 | CLTA,GNE | c.324G>A (p.Arg108=) c.54G>A (p.Arg18=) c.231G>A (p.Arg77=) c.486-16782C>T (n.486-16782C>T) c.216G>A (p.Arg72=) | |
9 | g.36246417C>A | CA373419867 | CLTA,GNE | c.323G>T (p.Arg108Met) c.53G>T (p.Arg18Met) c.230G>T (p.Arg77Met) c.486-16781C>A (n.486-16781C>A) c.215G>T (p.Arg72Met) | |
9 | g.36246417C>G | CA373419869 | CLTA,GNE | c.323G>C (p.Arg108Thr) c.53G>C (p.Arg18Thr) c.230G>C (p.Arg77Thr) c.486-16781C>G (n.486-16781C>G) c.215G>C (p.Arg72Thr) | |
9 | g.36246417C>T | CA373419868 | CLTA,GNE | c.323G>A (p.Arg108Lys) c.53G>A (p.Arg18Lys) c.230G>A (p.Arg77Lys) c.486-16781C>T (n.486-16781C>T) c.215G>A (p.Arg72Lys) |