Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209795254C>T | CA2650336318 | IRF6 | c.508+36G>A (n.508+36G>A) c.223+36G>A (n.223+36G>A) | gnomAD v4 |
1 | g.209795255_209795257delinsCAT | CA2484367192 | IRF6 | c.508+33_508+35delinsATG (n.508+33_508+35delinsATG) c.223+33_223+35delinsATG (n.223+33_223+35delinsATG) | |
1 | g.209795256A= | CA2484367193 | IRF6 | c.508+34T= (n.508+34T=) c.223+34T= (n.223+34T=) | |
1 | g.209795256A>G | CA2484367194 | IRF6 | c.508+34T>C (n.508+34T>C) c.223+34T>C (n.223+34T>C) | dbSNP |
1 | g.209795258_209795259del | CA1377312 | IRF6 | c.508+33_508+34del (n.508+33_508+34del) c.223+33_223+34del (n.223+33_223+34del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795257T>C | CA2484367196 | IRF6 | c.508+33A>G (n.508+33A>G) c.223+33A>G (n.223+33A>G) | dbSNP gnomAD v4 |
1 | g.209795257T= | CA2484367195 | IRF6 | c.508+33A= (n.508+33A=) c.223+33A= (n.223+33A=) | |
1 | g.209795258A>G | CA2650336320 | IRF6 | c.508+32T>C (n.508+32T>C) c.223+32T>C (n.223+32T>C) | gnomAD v4 |
1 | g.209795259T>A | CA528646044 | IRF6 | c.508+31A>T (n.508+31A>T) c.223+31A>T (n.223+31A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795259T= | CA2484367197 | IRF6 | c.508+31A= (n.508+31A=) c.223+31A= (n.223+31A=) | |
1 | g.209795260G>A | CA2650336321 | IRF6 | c.508+30C>T (n.508+30C>T) c.223+30C>T (n.223+30C>T) | gnomAD v4 |
1 | g.209795260G= | CA2484367198 | IRF6 | c.508+30C= (n.508+30C=) c.223+30C= (n.223+30C=) | |
1 | g.209795260G>T | CA1377313 | IRF6 | c.508+30C>A (n.508+30C>A) c.223+30C>A (n.223+30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795265T>C | CA646387507 | IRF6 | c.508+25A>G (n.508+25A>G) c.223+25A>G (n.223+25A>G) | COSMIC |
1 | g.209795266G>C | CA2484367200 | IRF6 | c.508+24C>G (n.508+24C>G) c.223+24C>G (n.223+24C>G) | dbSNP |
1 | g.209795266G= | CA2484367199 | IRF6 | c.508+24C= (n.508+24C=) c.223+24C= (n.223+24C=) | |
1 | g.209795266G>T | CA2650336322 | IRF6 | c.508+24C>A (n.508+24C>A) c.223+24C>A (n.223+24C>A) | gnomAD v4 |
1 | g.209795268A= | CA1139855415 | IRF6 | c.508+22T= (n.508+22T=) c.223+22T= (n.223+22T=) | |
1 | g.209795268A>G | CA36754453 | IRF6 | c.508+22T>C (n.508+22T>C) c.223+22T>C (n.223+22T>C) | dbSNP |
1 | g.209795269C>T | CA1011776613 | IRF6 | c.508+21G>A (n.508+21G>A) c.223+21G>A (n.223+21G>A) | gnomAD v3 gnomAD v4 |
1 | g.209795270C= | CA2484367201 | IRF6 | c.508+20G= (n.508+20G=) c.223+20G= (n.223+20G=) | |
1 | g.209795270C>T | CA646387510 | IRF6 | c.508+20G>A (n.508+20G>A) c.223+20G>A (n.223+20G>A) | dbSNP COSMIC |
1 | g.209795271A>G | CA2650336323 | IRF6 | c.508+19T>C (n.508+19T>C) c.223+19T>C (n.223+19T>C) | gnomAD v4 |
1 | g.209795271A>T | CA2650336324 | IRF6 | c.508+19T>A (n.508+19T>A) c.223+19T>A (n.223+19T>A) | gnomAD v4 |
1 | g.209795272C= | CA2484367202 | IRF6 | c.508+18G= (n.508+18G=) c.223+18G= (n.223+18G=) | |
1 | g.209795272C>G | CA528646045 | IRF6 | c.508+18G>C (n.508+18G>C) c.223+18G>C (n.223+18G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795273C>A | CA2650336325 | IRF6 | c.508+17G>T (n.508+17G>T) c.223+17G>T (n.223+17G>T) | gnomAD v4 |
1 | g.209795273C>G | CA2650336326 | IRF6 | c.508+17G>C (n.508+17G>C) c.223+17G>C (n.223+17G>C) | gnomAD v4 |
1 | g.209795273C>T | CA2747568880 | IRF6 | c.508+17G>A (n.508+17G>A) c.223+17G>A (n.223+17G>A) | |
1 | g.209795274C= | CA2484367203 | IRF6 | c.508+16G= (n.508+16G=) c.223+16G= (n.223+16G=) | |
1 | g.209795274C>G | CA2650336327 | IRF6 | c.508+16G>C (n.508+16G>C) c.223+16G>C (n.223+16G>C) | gnomAD v4 |
1 | g.209795274C>T | CA2484367204 | IRF6 | c.508+16G>A (n.508+16G>A) c.223+16G>A (n.223+16G>A) | dbSNP |
1 | g.209795275A>C | CA2574125122 | IRF6 | c.508+15T>G (n.508+15T>G) c.223+15T>G (n.223+15T>G) | ClinVar gnomAD v4 |
1 | g.209795277C= | CA2484367205 | IRF6 | c.508+13G= (n.508+13G=) c.223+13G= (n.223+13G=) | |
1 | g.209795277C>T | CA1377314 | IRF6 | c.508+13G>A (n.508+13G>A) c.223+13G>A (n.223+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795278A= | CA2484367206 | IRF6 | c.508+12T= (n.508+12T=) c.223+12T= (n.223+12T=) | |
1 | g.209795278A>C | CA1377315 | IRF6 | c.508+12T>G (n.508+12T>G) c.223+12T>G (n.223+12T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795279T>C | CA646387512 | IRF6 | c.508+11A>G (n.508+11A>G) c.223+11A>G (n.223+11A>G) | COSMIC |
1 | g.209795281C>A | CA2650336328 | IRF6 | c.508+9G>T (n.508+9G>T) c.223+9G>T (n.223+9G>T) | gnomAD v4 |
1 | g.209795284A= | CA2484367207 | IRF6 | c.508+6T= (n.508+6T=) c.223+6T= (n.223+6T=) | |
1 | g.209795284A>T | CA730857501 | IRF6 | c.508+6T>A (n.508+6T>A) c.223+6T>A (n.223+6T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209795285C>A | CA528646048 | IRF6 | c.508+5G>T (n.508+5G>T) c.223+5G>T (n.223+5G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795285C= | CA2484367208 | IRF6 | c.508+5G= (n.508+5G=) c.223+5G= (n.223+5G=) | |
1 | g.209795285C>G | CA2650336329 | IRF6 | c.508+5G>C (n.508+5G>C) c.223+5G>C (n.223+5G>C) | gnomAD v4 |
1 | g.209795285C>T | CA2484367209 | IRF6 | c.508+5G>A (n.508+5G>A) c.223+5G>A (n.223+5G>A) | dbSNP |
1 | g.209795286T>C | CA2484367211 | IRF6 | c.508+4A>G (n.508+4A>G) c.223+4A>G (n.223+4A>G) | dbSNP |
1 | g.209795286T= | CA2484367210 | IRF6 | c.508+4A= (n.508+4A=) c.223+4A= (n.223+4A=) | |
1 | g.209795287C>T | CA2574125123 | IRF6 | c.508+3G>A (n.508+3G>A) c.223+3G>A (n.223+3G>A) | |
1 | g.209795288A>C | CA344582351 | IRF6 | c.508+2T>G (n.508+2T>G) c.223+2T>G (n.223+2T>G) | |
1 | g.209795288A>G | CA344582353 | IRF6 | c.508+2T>C (n.508+2T>C) c.223+2T>C (n.223+2T>C) | |
1 | g.209795288A>T | CA344582355 | IRF6 | c.508+2T>A (n.508+2T>A) c.223+2T>A (n.223+2T>A) | |
1 | g.209795289C>A | CA344582358 | IRF6 | c.508+1G>T (n.508+1G>T) c.223+1G>T (n.223+1G>T) | |
1 | g.209795289C>G | CA344582360 | IRF6 | c.508+1G>C (n.508+1G>C) c.223+1G>C (n.223+1G>C) | |
1 | g.209795289C>T | CA344582362 | IRF6 | c.508+1G>A (n.508+1G>A) c.223+1G>A (n.223+1G>A) | |
1 | g.209795289_209795293del | CA2650336330 | IRF6 | c.505_508+1del c.220_223+1del | gnomAD v4 |
1 | g.209795290C>A | CA344582369 | IRF6 | c.508G>T (p.Gly170Cys) c.508G>T (p.Glu170Ter) c.223G>T (p.Gly75Cys) | |
1 | g.209795290C= | CA2484367212 | IRF6 | c.508G= (p.Gly170=) c.508G= (p.Glu170=) c.223G= (p.Gly75=) | |
1 | g.209795290C>G | CA344582364 | IRF6 | c.508G>C (p.Gly170Arg) c.508G>C (p.Glu170Gln) c.223G>C (p.Gly75Arg) | |
1 | g.209795290C>T | CA344582367 | IRF6 | c.508G>A (p.Gly170Ser) c.508G>A (p.Glu170Lys) c.223G>A (p.Gly75Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209795291A>C | CA344582371 | IRF6 | c.507T>G (p.Asn169Lys) c.222T>G (p.Asn74Lys) | |
1 | g.209795291A>G | CA423029851 | IRF6 | c.507T>C (p.Asn169=) c.222T>C (p.Asn74=) | |
1 | g.209795291A>T | CA344582373 | IRF6 | c.507T>A (p.Asn169Lys) c.222T>A (p.Asn74Lys) | |
1 | g.209795292T>A | CA344582376 | IRF6 | c.506A>T (p.Asn169Ile) c.221A>T (p.Asn74Ile) | |
1 | g.209795292T>C | CA1377316 | IRF6 | c.506A>G (p.Asn169Ser) c.221A>G (p.Asn74Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795292T>G | CA344582378 | IRF6 | c.506A>C (p.Asn169Thr) c.221A>C (p.Asn74Thr) | |
1 | g.209795292T= | CA1143474177 | IRF6 | c.506A= (p.Asn169=) c.221A= (p.Asn74=) | |
1 | g.209795293T>A | CA344582381 | IRF6 | c.505A>T (p.Asn169Tyr) c.220A>T (p.Asn74Tyr) | |
1 | g.209795293T>C | CA344582383 | IRF6 | c.505A>G (p.Asn169Asp) c.220A>G (p.Asn74Asp) | |
1 | g.209795293T>G | CA344582385 | IRF6 | c.505A>C (p.Asn169His) c.220A>C (p.Asn74His) | |
1 | g.209795294G>A | CA423029855 | IRF6 | c.504C>T (p.Ile168=) c.219C>T (p.Ile73=) | COSMIC |
1 | g.209795294G>C | CA344582387 | IRF6 | c.504C>G (p.Ile168Met) c.219C>G (p.Ile73Met) | |
1 | g.209795294G>T | CA423029853 | IRF6 | c.504C>A (p.Ile168=) c.219C>A (p.Ile73=) | |
1 | g.209795295A= | CA2484367213 | IRF6 | c.503T= (p.Ile168=) c.218T= (p.Ile73=) | |
1 | g.209795295A>C | CA344582388 | IRF6 | c.503T>G (p.Ile168Ser) c.218T>G (p.Ile73Ser) | |
1 | g.209795295A>G | CA344582389 | IRF6 | c.503T>C (p.Ile168Thr) c.218T>C (p.Ile73Thr) | |
1 | g.209795295A>T | CA344582391 | IRF6 | c.503T>A (p.Ile168Asn) c.218T>A (p.Ile73Asn) | |
1 | g.209795296T>A | CA344582397 | IRF6 | c.502A>T (p.Ile168Phe) c.217A>T (p.Ile73Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209795296T>C | CA1377317 | IRF6 | c.502A>G (p.Ile168Val) c.217A>G (p.Ile73Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795296T>G | CA344582394 | IRF6 | c.502A>C (p.Ile168Leu) c.217A>C (p.Ile73Leu) | |
1 | g.209795296T= | CA2484367214 | IRF6 | c.502A= (p.Ile168=) c.217A= (p.Ile73=) | |
1 | g.209795299_209795316dup | CA528646051 | IRF6 | c.485_502dup (p.Asn167_Ile168insThrPheProPheLeuAsn) c.200_217dup (p.Asn72_Ile73insThrPheProPheLeuAsn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795297G>A | CA423029859 | IRF6 | c.501C>T (p.Asn167=) c.216C>T (p.Asn72=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795297G>C | CA344582399 | IRF6 | c.501C>G (p.Asn167Lys) c.216C>G (p.Asn72Lys) | |
1 | g.209795297G= | CA2484367215 | IRF6 | c.501C= (p.Asn167=) c.216C= (p.Asn72=) | |
1 | g.209795297G>T | CA344582400 | IRF6 | c.501C>A (p.Asn167Lys) c.216C>A (p.Asn72Lys) | |
1 | g.209795298T>A | CA344582402 | IRF6 | c.500A>T (p.Asn167Ile) c.215A>T (p.Asn72Ile) | |
1 | g.209795298T>C | CA344582404 | IRF6 | c.500A>G (p.Asn167Ser) c.215A>G (p.Asn72Ser) | |
1 | g.209795298T>G | CA344582406 | IRF6 | c.500A>C (p.Asn167Thr) c.215A>C (p.Asn72Thr) | |
1 | g.209795299T>A | CA344582408 | IRF6 | c.499A>T (p.Asn167Tyr) c.214A>T (p.Asn72Tyr) | |
1 | g.209795299T>C | CA344582410 | IRF6 | c.499A>G (p.Asn167Asp) c.214A>G (p.Asn72Asp) | |
1 | g.209795299T>G | CA344582411 | IRF6 | c.499A>C (p.Asn167His) c.214A>C (p.Asn72His) | |
1 | g.209795300C>A | CA423029863 | IRF6 | c.498G>T (p.Leu166=) c.213G>T (p.Leu71=) | |
1 | g.209795300C>G | CA423029866 | IRF6 | c.498G>C (p.Leu166=) c.213G>C (p.Leu71=) | |
1 | g.209795300C>T | CA423029864 | IRF6 | c.498G>A (p.Leu166=) c.213G>A (p.Leu71=) | |
1 | g.209795301A>C | CA344582414 | IRF6 | c.497T>G (p.Leu166Arg) c.212T>G (p.Leu71Arg) | |
1 | g.209795301A>G | CA344582416 | IRF6 | c.497T>C (p.Leu166Pro) c.212T>C (p.Leu71Pro) | |
1 | g.209795301A>T | CA344582418 | IRF6 | c.497T>A (p.Leu166Gln) c.212T>A (p.Leu71Gln) | |
1 | g.209795302G>A | CA423029867 | IRF6 | c.496C>T (p.Leu166=) c.211C>T (p.Leu71=) | gnomAD v4 COSMIC |
1 | g.209795302G>C | CA344582420 | IRF6 | c.496C>G (p.Leu166Val) c.211C>G (p.Leu71Val) | |
1 | g.209795302G>T | CA344582422 | IRF6 | c.496C>A (p.Leu166Met) c.211C>A (p.Leu71Met) | |
1 | g.209795303G>A | CA1377318 | IRF6 | c.495C>T (p.Phe165=) c.210C>T (p.Phe70=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.209795303G>C | CA344582427 | IRF6 | c.495C>G (p.Phe165Leu) c.210C>G (p.Phe70Leu) | COSMIC |
1 | g.209795303G= | CA2484367216 | IRF6 | c.495C= (p.Phe165=) c.210C= (p.Phe70=) | |
1 | g.209795303G>T | CA344582425 | IRF6 | c.495C>A (p.Phe165Leu) c.210C>A (p.Phe70Leu) | gnomAD v3 gnomAD v4 |
1 | g.209795304A>C | CA344582430 | IRF6 | c.494T>G (p.Phe165Cys) c.209T>G (p.Phe70Cys) | |
1 | g.209795304A>G | CA344582433 | IRF6 | c.494T>C (p.Phe165Ser) c.209T>C (p.Phe70Ser) | |
1 | g.209795304A>T | CA344582432 | IRF6 | c.494T>A (p.Phe165Tyr) c.209T>A (p.Phe70Tyr) | |
1 | g.209795305del | CA2586968070 | IRF6 | c.494del (p.Phe165SerfsTer2) c.209del (p.Phe70SerfsTer2) | |
1 | g.209795305A>C | CA344582435 | IRF6 | c.493T>G (p.Phe165Val) c.208T>G (p.Phe70Val) | |
1 | g.209795305A>G | CA344582436 | IRF6 | c.493T>C (p.Phe165Leu) c.208T>C (p.Phe70Leu) | |
1 | g.209795305A>T | CA344582437 | IRF6 | c.493T>A (p.Phe165Ile) c.208T>A (p.Phe70Ile) | |
1 | g.209795306G>A | CA423029872 | IRF6 | c.492C>T (p.Pro164=) c.207C>T (p.Pro69=) | dbSNP gnomAD v4 COSMIC |
1 | g.209795306G>C | CA423029873 | IRF6 | c.492C>G (p.Pro164=) c.207C>G (p.Pro69=) | |
1 | g.209795306G= | CA2484367217 | IRF6 | c.492C= (p.Pro164=) c.207C= (p.Pro69=) | |
1 | g.209795306G>T | CA423029875 | IRF6 | c.492C>A (p.Pro164=) c.207C>A (p.Pro69=) | |
1 | g.209795309del | CA2740090307 | IRF6 | c.492del (p.Phe165SerfsTer2) c.207del (p.Phe70SerfsTer2) | ClinVar |
1 | g.209795307G>A | CA1377319 | IRF6 | c.491C>T (p.Pro164Leu) c.206C>T (p.Pro69Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795307G>C | CA344582441 | IRF6 | c.491C>G (p.Pro164Arg) c.206C>G (p.Pro69Arg) | |
1 | g.209795307G= | CA2484367218 | IRF6 | c.491C= (p.Pro164=) c.206C= (p.Pro69=) | |
1 | g.209795307G>T | CA344582443 | IRF6 | c.491C>A (p.Pro164His) c.206C>A (p.Pro69His) | |
1 | g.209795308G>A | CA344582446 | IRF6 | c.490C>T (p.Pro164Ser) c.205C>T (p.Pro69Ser) | gnomAD v4 COSMIC |
1 | g.209795308G>C | CA36754467 | IRF6 | c.490C>G (p.Pro164Ala) c.205C>G (p.Pro69Ala) | ClinVar dbSNP |
1 | g.209795308G= | CA2484367219 | IRF6 | c.490C= (p.Pro164=) c.205C= (p.Pro69=) | |
1 | g.209795308G>T | CA344582448 | IRF6 | c.490C>A (p.Pro164Thr) c.205C>A (p.Pro69Thr) | |
1 | g.209795309G>A | CA423029880 | IRF6 | c.489C>T (p.Phe163=) c.204C>T (p.Phe68=) | |
1 | g.209795309G>C | CA344582451 | IRF6 | c.489C>G (p.Phe163Leu) c.204C>G (p.Phe68Leu) | |
1 | g.209795309G>T | CA344582452 | IRF6 | c.489C>A (p.Phe163Leu) c.204C>A (p.Phe68Leu) | |
1 | g.209795310A= | CA2484367220 | IRF6 | c.488T= (p.Phe163=) c.203T= (p.Phe68=) | |
1 | g.209795310A>C | CA344582458 | IRF6 | c.488T>G (p.Phe163Cys) c.203T>G (p.Phe68Cys) | |
1 | g.209795310A>G | CA344582457 | IRF6 | c.488T>C (p.Phe163Ser) c.203T>C (p.Phe68Ser) | |
1 | g.209795310A>T | CA344582455 | IRF6 | c.488T>A (p.Phe163Tyr) c.203T>A (p.Phe68Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795311A= | CA2484367221 | IRF6 | c.487T= (p.Phe163=) c.202T= (p.Phe68=) | |
1 | g.209795311A>C | CA344582459 | IRF6 | c.487T>G (p.Phe163Val) c.202T>G (p.Phe68Val) | |
1 | g.209795311A>G | CA1377320 | IRF6 | c.487T>C (p.Phe163Leu) c.202T>C (p.Phe68Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209795311A>T | CA344582460 | IRF6 | c.487T>A (p.Phe163Ile) c.202T>A (p.Phe68Ile) | gnomAD v4 |
1 | g.209795312G>A | CA423029883 | IRF6 | c.486C>T (p.Thr162=) c.201C>T (p.Thr67=) | gnomAD v4 |
1 | g.209795312G>C | CA423029884 | IRF6 | c.486C>G (p.Thr162=) c.201C>G (p.Thr67=) | |
1 | g.209795312G>T | CA423029887 | IRF6 | c.486C>A (p.Thr162=) c.201C>A (p.Thr67=) | gnomAD v4 |
1 | g.209795313G>A | CA344582461 | IRF6 | c.485C>T (p.Thr162Ile) c.200C>T (p.Thr67Ile) | gnomAD v4 |
1 | g.209795313G>C | CA344582462 | IRF6 | c.485C>G (p.Thr162Ser) c.200C>G (p.Thr67Ser) | gnomAD v4 |
1 | g.209795313G= | CA2484367222 | IRF6 | c.485C= (p.Thr162=) c.200C= (p.Thr67=) | |
1 | g.209795313G>T | CA344582463 | IRF6 | c.485C>A (p.Thr162Asn) c.200C>A (p.Thr67Asn) | dbSNP gnomAD v4 |
1 | g.209795314T>A | CA344582464 | IRF6 | c.484A>T (p.Thr162Ser) c.199A>T (p.Thr67Ser) | |
1 | g.209795314T>C | CA344582465 | IRF6 | c.484A>G (p.Thr162Ala) c.199A>G (p.Thr67Ala) | gnomAD v4 |
1 | g.209795314T>G | CA344582466 | IRF6 | c.484A>C (p.Thr162Pro) c.199A>C (p.Thr67Pro) | |
1 | g.209795315G>A | CA423029891 | IRF6 | c.483C>T (p.Asp161=) c.198C>T (p.Asp66=) | |
1 | g.209795315G>C | CA344582467 | IRF6 | c.483C>G (p.Asp161Glu) c.198C>G (p.Asp66Glu) | |
1 | g.209795315G>T | CA344582468 | IRF6 | c.483C>A (p.Asp161Glu) c.198C>A (p.Asp66Glu) | |
1 | g.209795316T>A | CA344582471 | IRF6 | c.482A>T (p.Asp161Val) c.197A>T (p.Asp66Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209795316T>C | CA344582470 | IRF6 | c.482A>G (p.Asp161Gly) c.197A>G (p.Asp66Gly) | |
1 | g.209795316T>G | CA344582469 | IRF6 | c.482A>C (p.Asp161Ala) c.197A>C (p.Asp66Ala) | |
1 | g.209795316T= | CA2484367223 | IRF6 | c.482A= (p.Asp161=) c.197A= (p.Asp66=) | |
1 | g.209795317C>A | CA344582472 | IRF6 | c.481G>T (p.Asp161Tyr) c.196G>T (p.Asp66Tyr) | |
1 | g.209795317C>G | CA344582473 | IRF6 | c.481G>C (p.Asp161His) c.196G>C (p.Asp66His) | |
1 | g.209795317C>T | CA344582474 | IRF6 | c.481G>A (p.Asp161Asn) c.196G>A (p.Asp66Asn) | |
1 | g.209795318C>A | CA344582475 | IRF6 | c.480G>T (p.Gln160His) c.195G>T (p.Gln65His) | |
1 | g.209795318C>G | CA344582476 | IRF6 | c.480G>C (p.Gln160His) c.195G>C (p.Gln65His) | |
1 | g.209795318C>T | CA423029893 | IRF6 | c.480G>A (p.Gln160=) c.195G>A (p.Gln65=) | |
1 | g.209795319T>A | CA1377321 | IRF6 | c.479A>T (p.Gln160Leu) c.194A>T (p.Gln65Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209795319T>C | CA344582477 | IRF6 | c.479A>G (p.Gln160Arg) c.194A>G (p.Gln65Arg) | COSMIC |
1 | g.209795319T>G | CA344582478 | IRF6 | c.479A>C (p.Gln160Pro) c.194A>C (p.Gln65Pro) | |
1 | g.209795319T= | CA2484367224 | IRF6 | c.479A= (p.Gln160=) c.194A= (p.Gln65=) | |
1 | g.209795320G>A | CA344582479 | IRF6 | c.478C>T (p.Gln160Ter) c.193C>T (p.Gln65Ter) | ClinVar dbSNP gnomAD v2 |
1 | g.209795320G>C | CA344582480 | IRF6 | c.478C>G (p.Gln160Glu) c.193C>G (p.Gln65Glu) | |
1 | g.209795320G= | CA2484367225 | IRF6 | c.478C= (p.Gln160=) c.193C= (p.Gln65=) | |
1 | g.209795320G>T | CA344582481 | IRF6 | c.478C>A (p.Gln160Lys) c.193C>A (p.Gln65Lys) | |
1 | g.209795321G>A | CA423029898 | IRF6 | c.477C>T (p.Ile159=) c.192C>T (p.Ile64=) | |
1 | g.209795321G>C | CA344582482 | IRF6 | c.477C>G (p.Ile159Met) c.192C>G (p.Ile64Met) | |
1 | g.209795321G= | CA2484367226 | IRF6 | c.477C= (p.Ile159=) c.192C= (p.Ile64=) | |
1 | g.209795321G>T | CA423029901 | IRF6 | c.477C>A (p.Ile159=) c.192C>A (p.Ile64=) | dbSNP gnomAD v4 |
1 | g.209795322A= | CA2484367227 | IRF6 | c.476T= (p.Ile159=) c.191T= (p.Ile64=) | |
1 | g.209795322A>C | CA36754472 | IRF6 | c.476T>G (p.Ile159Ser) c.191T>G (p.Ile64Ser) | dbSNP gnomAD v4 |
1 | g.209795322A>G | CA344582483 | IRF6 | c.476T>C (p.Ile159Thr) c.191T>C (p.Ile64Thr) | |
1 | g.209795322A>T | CA344582484 | IRF6 | c.476T>A (p.Ile159Asn) c.191T>A (p.Ile64Asn) | |
1 | g.209795323T>A | CA344582485 | IRF6 | c.475A>T (p.Ile159Phe) c.190A>T (p.Ile64Phe) | |
1 | g.209795323T>C | CA344582486 | IRF6 | c.475A>G (p.Ile159Val) c.190A>G (p.Ile64Val) | |
1 | g.209795323T>G | CA344582487 | IRF6 | c.475A>C (p.Ile159Leu) c.190A>C (p.Ile64Leu) | |
1 | g.209795324G>A | CA423029918 | IRF6 | c.474C>T (p.Pro158=) c.189C>T (p.Pro63=) | |
1 | g.209795324G>C | CA423029915 | IRF6 | c.474C>G (p.Pro158=) c.189C>G (p.Pro63=) | |
1 | g.209795324G>T | CA423029911 | IRF6 | c.474C>A (p.Pro158=) c.189C>A (p.Pro63=) | |
1 | g.209795325G>A | CA344582488 | IRF6 | c.473C>T (p.Pro158Leu) c.188C>T (p.Pro63Leu) | dbSNP gnomAD v4 |
1 | g.209795325G>C | CA344582489 | IRF6 | c.473C>G (p.Pro158Arg) c.188C>G (p.Pro63Arg) | |
1 | g.209795325G= | CA2484367228 | IRF6 | c.473C= (p.Pro158=) c.188C= (p.Pro63=) | |
1 | g.209795325G>T | CA1377322 | IRF6 | c.473C>A (p.Pro158His) c.188C>A (p.Pro63His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209795326G>A | CA344582490 | IRF6 | c.472C>T (p.Pro158Ser) c.187C>T (p.Pro63Ser) | gnomAD v4 COSMIC |
1 | g.209795326G>C | CA344582491 | IRF6 | c.472C>G (p.Pro158Ala) c.187C>G (p.Pro63Ala) | |
1 | g.209795326G>T | CA344582492 | IRF6 | c.472C>A (p.Pro158Thr) c.187C>A (p.Pro63Thr) | |
1 | g.209795327A>C | CA423029923 | IRF6 | c.471T>G (p.Val157=) c.186T>G (p.Val62=) | |
1 | g.209795327A>G | CA423029927 | IRF6 | c.471T>C (p.Val157=) c.186T>C (p.Val62=) | |
1 | g.209795327A>T | CA423029924 | IRF6 | c.471T>A (p.Val157=) c.186T>A (p.Val62=) | |
1 | g.209795328A>C | CA344582493 | IRF6 | c.470T>G (p.Val157Gly) c.185T>G (p.Val62Gly) | |
1 | g.209795328A>G | CA344582494 | IRF6 | c.470T>C (p.Val157Ala) c.185T>C (p.Val62Ala) | |
1 | g.209795328A>T | CA344582495 | IRF6 | c.470T>A (p.Val157Asp) c.185T>A (p.Val62Asp) | gnomAD v4 |
1 | g.209795329C>A | CA344582497 | IRF6 | c.469G>T (p.Val157Phe) c.184G>T (p.Val62Phe) | |
1 | g.209795329C= | CA2484367229 | IRF6 | c.469G= (p.Val157=) c.184G= (p.Val62=) | |
1 | g.209795329C>G | CA344582498 | IRF6 | c.469G>C (p.Val157Leu) c.184G>C (p.Val62Leu) | |
1 | g.209795329C>T | CA344582496 | IRF6 | c.469G>A (p.Val157Ile) c.184G>A (p.Val62Ile) | dbSNP gnomAD v4 |
1 | g.209795330A>C | CA344582500 | IRF6 | c.468T>G (p.His156Gln) c.183T>G (p.His61Gln) | |
1 | g.209795330A>G | CA423029938 | IRF6 | c.468T>C (p.His156=) c.183T>C (p.His61=) | gnomAD v4 |
1 | g.209795330A>T | CA344582499 | IRF6 | c.468T>A (p.His156Gln) c.183T>A (p.His61Gln) | |
1 | g.209795331T>A | CA344582502 | IRF6 | c.467A>T (p.His156Leu) c.182A>T (p.His61Leu) | |
1 | g.209795331T>C | CA1377323 | IRF6 | c.467A>G (p.His156Arg) c.182A>G (p.His61Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209795331T>G | CA344582501 | IRF6 | c.467A>C (p.His156Pro) c.182A>C (p.His61Pro) | |
1 | g.209795331T= | CA2484367230 | IRF6 | c.467A= (p.His156=) c.182A= (p.His61=) | |
1 | g.209795332G>A | CA344582503 | IRF6 | c.466C>T (p.His156Tyr) c.181C>T (p.His61Tyr) | gnomAD v4 |
1 | g.209795332G>C | CA344582504 | IRF6 | c.466C>G (p.His156Asp) c.181C>G (p.His61Asp) | gnomAD v4 |
1 | g.209795332G>T | CA344582505 | IRF6 | c.466C>A (p.His156Asn) c.181C>A (p.His61Asn) | |
1 | g.209795333dup | CA2586968071 | IRF6 | c.466dup (p.His156ProfsTer?) c.466dup (p.His156ProfsTer15) c.181dup (p.His61ProfsTer?) | |
1 | g.209795333G>A | CA423029945 | IRF6 | c.465C>T (p.His155=) c.180C>T (p.His60=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795333G>C | CA344582506 | IRF6 | c.465C>G (p.His155Gln) c.180C>G (p.His60Gln) | |
1 | g.209795333G= | CA2484367231 | IRF6 | c.465C= (p.His155=) c.180C= (p.His60=) | |
1 | g.209795333G>T | CA344582507 | IRF6 | c.465C>A (p.His155Gln) c.180C>A (p.His60Gln) | gnomAD v4 |
1 | g.209795334T>A | CA344582508 | IRF6 | c.464A>T (p.His155Leu) c.179A>T (p.His60Leu) | |
1 | g.209795334T>C | CA344582509 | IRF6 | c.464A>G (p.His155Arg) c.179A>G (p.His60Arg) | |
1 | g.209795334T>G | CA344582510 | IRF6 | c.464A>C (p.His155Pro) c.179A>C (p.His60Pro) | |
1 | g.209795335G>A | CA344582511 | IRF6 | c.463C>T (p.His155Tyr) c.178C>T (p.His60Tyr) | dbSNP |
1 | g.209795335G>C | CA344582512 | IRF6 | c.463C>G (p.His155Asp) c.178C>G (p.His60Asp) | |
1 | g.209795335G= | CA2484367232 | IRF6 | c.463C= (p.His155=) c.178C= (p.His60=) | |
1 | g.209795335G>T | CA344582513 | IRF6 | c.463C>A (p.His155Asn) c.178C>A (p.His60Asn) | |
1 | g.209795336C>A | CA344582514 | IRF6 | c.462G>T (p.Gln154His) c.177G>T (p.Gln59His) | |
1 | g.209795336C>G | CA344582515 | IRF6 | c.462G>C (p.Gln154His) c.177G>C (p.Gln59His) | |
1 | g.209795336C>T | CA423029964 | IRF6 | c.462G>A (p.Gln154=) c.177G>A (p.Gln59=) | |
1 | g.209795337T>A | CA344582516 | IRF6 | c.461A>T (p.Gln154Leu) c.176A>T (p.Gln59Leu) | |
1 | g.209795337T>C | CA344582517 | IRF6 | c.461A>G (p.Gln154Arg) c.176A>G (p.Gln59Arg) | |
1 | g.209795337T>G | CA344582518 | IRF6 | c.461A>C (p.Gln154Pro) c.176A>C (p.Gln59Pro) | |
1 | g.209795338G>A | CA344582519 | IRF6 | c.460C>T (p.Gln154Ter) c.175C>T (p.Gln59Ter) | |
1 | g.209795338G>C | CA344582520 | IRF6 | c.460C>G (p.Gln154Glu) c.175C>G (p.Gln59Glu) | |
1 | g.209795338G>T | CA344582521 | IRF6 | c.460C>A (p.Gln154Lys) c.175C>A (p.Gln59Lys) | |
1 | g.209795339C>A | CA1377324 | IRF6 | c.459G>T (p.Ser153=) c.174G>T (p.Ser58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795339C= | CA1139908281 | IRF6 | c.459G= (p.Ser153=) c.174G= (p.Ser58=) | |
1 | g.209795339C>G | CA423029972 | IRF6 | c.459G>C (p.Ser153=) c.174G>C (p.Ser58=) | |
1 | g.209795339C>T | CA1377325 | IRF6 | c.459G>A (p.Ser153=) c.174G>A (p.Ser58=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209795340G>A | CA1377326 | IRF6 | c.458C>T (p.Ser153Leu) c.173C>T (p.Ser58Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209795340G>C | CA344582522 | IRF6 | c.458C>G (p.Ser153Trp) c.173C>G (p.Ser58Trp) | gnomAD v4 |
1 | g.209795340G= | CA2484367233 | IRF6 | c.458C= (p.Ser153=) c.173C= (p.Ser58=) | |
1 | g.209795340G>T | CA344582523 | IRF6 | c.458C>A (p.Ser153Ter) c.173C>A (p.Ser58Ter) | |
1 | g.209795341A= | CA2484367234 | IRF6 | c.457T= (p.Ser153=) c.172T= (p.Ser58=) | |
1 | g.209795341A>C | CA344582525 | IRF6 | c.457T>G (p.Ser153Ala) c.172T>G (p.Ser58Ala) | ClinVar dbSNP |
1 | g.209795341A>G | CA344582526 | IRF6 | c.457T>C (p.Ser153Pro) c.172T>C (p.Ser58Pro) | |
1 | g.209795341A>T | CA344582524 | IRF6 | c.457T>A (p.Ser153Thr) c.172T>A (p.Ser58Thr) | |
1 | g.209795342C>A | CA344582527 | IRF6 | c.456G>T (p.Gln152His) c.171G>T (p.Gln57His) | |
1 | g.209795342C>G | CA344582528 | IRF6 | c.456G>C (p.Gln152His) c.171G>C (p.Gln57His) | |
1 | g.209795342C>T | CA423029976 | IRF6 | c.456G>A (p.Gln152=) c.171G>A (p.Gln57=) | |
1 | g.209795342_209795343insATATGGAGGATG | CA2552453596 | IRF6 | c.455_456insCATCCTCCATAT (p.Gln152delinsHisIleLeuHisMet) c.170_171insCATCCTCCATAT (p.Gln57delinsHisIleLeuHisMet) | |
1 | g.209795343T>A | CA344582529 | IRF6 | c.455A>T (p.Gln152Leu) c.170A>T (p.Gln57Leu) | |
1 | g.209795343T>C | CA344582530 | IRF6 | c.455A>G (p.Gln152Arg) c.170A>G (p.Gln57Arg) | |
1 | g.209795343T>G | CA344582531 | IRF6 | c.455A>C (p.Gln152Pro) c.170A>C (p.Gln57Pro) | |
1 | g.209795344G>A | CA16603558 | IRF6 | c.454C>T (p.Gln152Ter) c.169C>T (p.Gln57Ter) | ClinVar dbSNP |
1 | g.209795344G>C | CA344582533 | IRF6 | c.454C>G (p.Gln152Glu) c.169C>G (p.Gln57Glu) | COSMIC |
1 | g.209795344G= | CA2484367235 | IRF6 | c.454C= (p.Gln152=) c.169C= (p.Gln57=) | |
1 | g.209795344G>T | CA344582534 | IRF6 | c.454C>A (p.Gln152Lys) c.169C>A (p.Gln57Lys) | |
1 | g.209795345A>C | CA344582535 | IRF6 | c.453T>G (p.Asp151Glu) c.168T>G (p.Asp56Glu) | |
1 | g.209795345A>G | CA423029980 | IRF6 | c.453T>C (p.Asp151=) c.168T>C (p.Asp56=) | |
1 | g.209795345A>T | CA344582536 | IRF6 | c.453T>A (p.Asp151Glu) c.168T>A (p.Asp56Glu) | |
1 | g.209795346T>A | CA344582537 | IRF6 | c.452A>T (p.Asp151Val) c.167A>T (p.Asp56Val) | |
1 | g.209795346T>C | CA344582538 | IRF6 | c.452A>G (p.Asp151Gly) c.167A>G (p.Asp56Gly) | |
1 | g.209795346T>G | CA344582539 | IRF6 | c.452A>C (p.Asp151Ala) c.167A>C (p.Asp56Ala) | |
1 | g.209795347C>A | CA344582542 | IRF6 | c.451G>T (p.Asp151Tyr) c.166G>T (p.Asp56Tyr) | COSMIC |
1 | g.209795347C>G | CA344582541 | IRF6 | c.451G>C (p.Asp151His) c.166G>C (p.Asp56His) | gnomAD v4 |
1 | g.209795347C>T | CA344582540 | IRF6 | c.451G>A (p.Asp151Asn) c.166G>A (p.Asp56Asn) | COSMIC |
1 | g.209795348C>A | CA423029988 | IRF6 | c.450G>T (p.Leu150=) c.165G>T (p.Leu55=) | |
1 | g.209795348C>G | CA423029994 | IRF6 | c.450G>C (p.Leu150=) c.165G>C (p.Leu55=) | |
1 | g.209795348C>T | CA423029991 | IRF6 | c.450G>A (p.Leu150=) c.165G>A (p.Leu55=) | |
1 | g.209795349A>C | CA344582543 | IRF6 | c.449T>G (p.Leu150Arg) c.164T>G (p.Leu55Arg) | gnomAD v4 |
1 | g.209795349A>G | CA344582544 | IRF6 | c.449T>C (p.Leu150Pro) c.164T>C (p.Leu55Pro) | |
1 | g.209795349A>T | CA344582545 | IRF6 | c.449T>A (p.Leu150Gln) c.164T>A (p.Leu55Gln) | |
1 | g.209795350G>A | CA423029996 | IRF6 | c.448C>T (p.Leu150=) c.163C>T (p.Leu55=) | gnomAD v4 |
1 | g.209795350G>C | CA344582546 | IRF6 | c.448C>G (p.Leu150Val) c.163C>G (p.Leu55Val) | |
1 | g.209795350G>T | CA344582547 | IRF6 | c.448C>A (p.Leu150Met) c.163C>A (p.Leu55Met) | |
1 | g.209795351C>A | CA344582548 | IRF6 | c.447G>T (p.Glu149Asp) c.162G>T (p.Glu54Asp) | |
1 | g.209795351C>G | CA344582549 | IRF6 | c.447G>C (p.Glu149Asp) c.162G>C (p.Glu54Asp) | |
1 | g.209795351C>T | CA423030003 | IRF6 | c.447G>A (p.Glu149=) c.162G>A (p.Glu54=) | |
1 | g.209795352T>A | CA344582550 | IRF6 | c.446A>T (p.Glu149Val) c.161A>T (p.Glu54Val) | |
1 | g.209795352T>C | CA344582551 | IRF6 | c.446A>G (p.Glu149Gly) c.161A>G (p.Glu54Gly) | |
1 | g.209795352T>G | CA344582552 | IRF6 | c.446A>C (p.Glu149Ala) c.161A>C (p.Glu54Ala) | |
1 | g.209795353C>A | CA344582553 | IRF6 | c.445G>T (p.Glu149Ter) c.160G>T (p.Glu54Ter) | |
1 | g.209795353C= | CA2484367236 | IRF6 | c.445G= (p.Glu149=) c.160G= (p.Glu54=) | |
1 | g.209795353C>G | CA344582554 | IRF6 | c.445G>C (p.Glu149Gln) c.160G>C (p.Glu54Gln) | |
1 | g.209795353C>T | CA36754488 | IRF6 | c.445G>A (p.Glu149Lys) c.160G>A (p.Glu54Lys) | dbSNP gnomAD v4 |
1 | g.209795354A= | CA1148270651 | IRF6 | c.444T= (p.Asp148=) c.159T= (p.Asp53=) | |
1 | g.209795354A>C | CA344582555 | IRF6 | c.444T>G (p.Asp148Glu) c.159T>G (p.Asp53Glu) | gnomAD v4 |
1 | g.209795354A>G | CA423030008 | IRF6 | c.444T>C (p.Asp148=) c.159T>C (p.Asp53=) | |
1 | g.209795354A>T | CA1377327 | IRF6 | c.444T>A (p.Asp148Glu) c.159T>A (p.Asp53Glu) | dbSNP ExAC gnomAD v2 |