Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53391782G>ACA503875798DCCc.2583G>A (p.Arg861=)
c.2257-5526G>A
c.2514G>A (p.Arg838=)
c.1488G>A (p.Arg496=)
c.1548G>A (p.Arg516=)
c.2523G>A (p.Arg841=)
 COSMIC COSMIC
18g.53391782G>CCA402472037DCCc.2583G>C (p.Arg861Ser)
c.2257-5526G>C
c.2514G>C (p.Arg838Ser)
c.1488G>C (p.Arg496Ser)
c.1548G>C (p.Arg516Ser)
c.2523G>C (p.Arg841Ser)
 dbSNP
18g.53391782G=CA2304132169DCCc.2583G= (p.Arg861=)
c.2257-5526G=
c.2514G= (p.Arg838=)
c.1488G= (p.Arg496=)
c.1548G= (p.Arg516=)
c.2523G= (p.Arg841=)
18g.53391782G>TCA402472036DCCc.2583G>T (p.Arg861Ser)
c.2257-5526G>T
c.2514G>T (p.Arg838Ser)
c.1488G>T (p.Arg496Ser)
c.1548G>T (p.Arg516Ser)
c.2523G>T (p.Arg841Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.53391783G>ACA402472038DCCc.2584G>A (p.Val862Ile)
c.2257-5525G>A
c.2515G>A (p.Val839Ile)
c.1489G>A (p.Val497Ile)
c.1549G>A (p.Val517Ile)
c.2524G>A (p.Val842Ile)
 gnomAD v4
18g.53391783G>CCA402472039DCCc.2584G>C (p.Val862Leu)
c.2257-5525G>C
c.2515G>C (p.Val839Leu)
c.1489G>C (p.Val497Leu)
c.1549G>C (p.Val517Leu)
c.2524G>C (p.Val842Leu)
18g.53391783G>TCA402472040DCCc.2584G>T (p.Val862Phe)
c.2257-5525G>T
c.2515G>T (p.Val839Phe)
c.1489G>T (p.Val497Phe)
c.1549G>T (p.Val517Phe)
c.2524G>T (p.Val842Phe)
18g.53391784T>ACA402472041DCCc.2585T>A (p.Val862Asp)
c.2257-5524T>A
c.2516T>A (p.Val839Asp)
c.1T>A
c.1490T>A (p.Val497Asp)
c.1550T>A (p.Val517Asp)
c.2525T>A (p.Val842Asp)
18g.53391784T>CCA402472042DCCc.2585T>C (p.Val862Ala)
c.2257-5524T>C
c.2516T>C (p.Val839Ala)
c.1T>C
c.1490T>C (p.Val497Ala)
c.1550T>C (p.Val517Ala)
c.2525T>C (p.Val842Ala)
18g.53391784T>GCA402472043DCCc.2585T>G (p.Val862Gly)
c.2257-5524T>G
c.2516T>G (p.Val839Gly)
c.1T>G
c.1490T>G (p.Val497Gly)
c.1550T>G (p.Val517Gly)
c.2525T>G (p.Val842Gly)
18g.53391784_53391789delCA2576506862DCCc.2585_2590del (p.Val862_Trp864delinsGly)
c.2257-5524_2257-5519del
c.2516_2521del (p.Val839_Trp841delinsGly)
c.1_6del
c.1490_1495del (p.Val497_Trp499delinsGly)
c.1550_1555del (p.Val517_Trp519delinsGly)
c.2525_2530del (p.Val842_Trp844delinsGly)
 gnomAD v4
18g.53391785C>ACA503875811DCCc.2586C>A (p.Val862=)
c.2257-5523C>A
c.2517C>A (p.Val839=)
c.2C>A
c.1491C>A (p.Val497=)
c.1551C>A (p.Val517=)
c.2526C>A (p.Val842=)
18g.53391785C>GCA503875814DCCc.2586C>G (p.Val862=)
c.2257-5523C>G
c.2517C>G (p.Val839=)
c.2C>G
c.1491C>G (p.Val497=)
c.1551C>G (p.Val517=)
c.2526C>G (p.Val842=)
18g.53391785C>TCA503875817DCCc.2586C>T (p.Val862=)
c.2257-5523C>T
c.2517C>T (p.Val839=)
c.2C>T
c.1491C>T (p.Val497=)
c.1551C>T (p.Val517=)
c.2526C>T (p.Val842=)
18g.53391786A>CCA402472044DCCc.2587A>C (p.Ser863Arg)
c.2257-5522A>C
c.2518A>C (p.Ser840Arg)
c.3A>C
c.1492A>C (p.Ser498Arg)
c.1552A>C (p.Ser518Arg)
c.2527A>C (p.Ser843Arg)
18g.53391786A>GCA402472045DCCc.2587A>G (p.Ser863Gly)
c.2257-5522A>G
c.2518A>G (p.Ser840Gly)
c.3A>G
c.1492A>G (p.Ser498Gly)
c.1552A>G (p.Ser518Gly)
c.2527A>G (p.Ser843Gly)
18g.53391786A>TCA402472046DCCc.2587A>T (p.Ser863Cys)
c.2257-5522A>T
c.2518A>T (p.Ser840Cys)
c.3A>T
c.1492A>T (p.Ser498Cys)
c.1552A>T (p.Ser518Cys)
c.2527A>T (p.Ser843Cys)
18g.53391787G>ACA402472047DCCc.2588G>A (p.Ser863Asn)
c.2257-5521G>A
c.2519G>A (p.Ser840Asn)
c.4G>A
c.1493G>A (p.Ser498Asn)
c.1553G>A (p.Ser518Asn)
c.2528G>A (p.Ser843Asn)
18g.53391787G>CCA402472048DCCc.2588G>C (p.Ser863Thr)
c.2257-5521G>C
c.2519G>C (p.Ser840Thr)
c.4G>C
c.1493G>C (p.Ser498Thr)
c.1553G>C (p.Ser518Thr)
c.2528G>C (p.Ser843Thr)
 dbSNP
18g.53391787G=CA2304132170DCCc.2588G= (p.Ser863=)
c.2257-5521G=
c.2519G= (p.Ser840=)
c.4G=
c.1493G= (p.Ser498=)
c.1553G= (p.Ser518=)
c.2528G= (p.Ser843=)
18g.53391787G>TCA300692992DCCc.2588G>T (p.Ser863Ile)
c.2257-5521G>T
c.2519G>T (p.Ser840Ile)
c.4G>T
c.1493G>T (p.Ser498Ile)
c.1553G>T (p.Ser518Ile)
c.2528G>T (p.Ser843Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53391788C>ACA402472050DCCc.2589C>A (p.Ser863Arg)
c.2257-5520C>A
c.2520C>A (p.Ser840Arg)
c.5C>A
c.1494C>A (p.Ser498Arg)
c.1554C>A (p.Ser518Arg)
c.2529C>A (p.Ser843Arg)
18g.53391788C=CA2304132171DCCc.2589C= (p.Ser863=)
c.2257-5520C=
c.2520C= (p.Ser840=)
c.5C=
c.1494C= (p.Ser498=)
c.1554C= (p.Ser518=)
c.2529C= (p.Ser843=)
18g.53391788C>GCA402472049DCCc.2589C>G (p.Ser863Arg)
c.2257-5520C>G
c.2520C>G (p.Ser840Arg)
c.5C>G
c.1494C>G (p.Ser498Arg)
c.1554C>G (p.Ser518Arg)
c.2529C>G (p.Ser843Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.53391788C>TCA503875829DCCc.2589C>T (p.Ser863=)
c.2257-5520C>T
c.2520C>T (p.Ser840=)
c.5C>T
c.1494C>T (p.Ser498=)
c.1554C>T (p.Ser518=)
c.2529C>T (p.Ser843=)
18g.53391789T>ACA402472051DCCc.2590T>A (p.Trp864Arg)
c.2257-5519T>A
c.2521T>A (p.Trp841Arg)
c.6T>A
c.1495T>A (p.Trp499Arg)
c.1555T>A (p.Trp519Arg)
c.2530T>A (p.Trp844Arg)
18g.53391789T>CCA402472052DCCc.2590T>C (p.Trp864Arg)
c.2257-5519T>C
c.2521T>C (p.Trp841Arg)
c.6T>C
c.1495T>C (p.Trp499Arg)
c.1555T>C (p.Trp519Arg)
c.2530T>C (p.Trp844Arg)
18g.53391789T>GCA402472053DCCc.2590T>G (p.Trp864Gly)
c.2257-5519T>G
c.2521T>G (p.Trp841Gly)
c.6T>G
c.1495T>G (p.Trp499Gly)
c.1555T>G (p.Trp519Gly)
c.2530T>G (p.Trp844Gly)
18g.53391790G>ACA402472054DCCc.2591G>A (p.Trp864Ter)
c.2257-5518G>A
c.2522G>A (p.Trp841Ter)
c.7G>A
c.1496G>A (p.Trp499Ter)
c.1556G>A (p.Trp519Ter)
c.2531G>A (p.Trp844Ter)
18g.53391790G>CCA402472055DCCc.2591G>C (p.Trp864Ser)
c.2257-5518G>C
c.2522G>C (p.Trp841Ser)
c.7G>C
c.1496G>C (p.Trp499Ser)
c.1556G>C (p.Trp519Ser)
c.2531G>C (p.Trp844Ser)
18g.53391790G>TCA402472056DCCc.2591G>T (p.Trp864Leu)
c.2257-5518G>T
c.2522G>T (p.Trp841Leu)
c.7G>T
c.1496G>T (p.Trp499Leu)
c.1556G>T (p.Trp519Leu)
c.2531G>T (p.Trp844Leu)
18g.53391791G>ACA402472057DCCc.2592G>A (p.Trp864Ter)
c.2257-5517G>A
c.2523G>A (p.Trp841Ter)
c.8G>A
c.1497G>A (p.Trp499Ter)
c.1557G>A (p.Trp519Ter)
c.2532G>A (p.Trp844Ter)
18g.53391791G>CCA402472058DCCc.2592G>C (p.Trp864Cys)
c.2257-5517G>C
c.2523G>C (p.Trp841Cys)
c.8G>C
c.1497G>C (p.Trp499Cys)
c.1557G>C (p.Trp519Cys)
c.2532G>C (p.Trp844Cys)
 dbSNP gnomAD v2 gnomAD v4
18g.53391791G=CA2304132172DCCc.2592G= (p.Trp864=)
c.2257-5517G=
c.2523G= (p.Trp841=)
c.8G=
c.1497G= (p.Trp499=)
c.1557G= (p.Trp519=)
c.2532G= (p.Trp844=)
18g.53391791G>TCA402472059DCCc.2592G>T (p.Trp864Cys)
c.2257-5517G>T
c.2523G>T (p.Trp841Cys)
c.8G>T
c.1497G>T (p.Trp499Cys)
c.1557G>T (p.Trp519Cys)
c.2532G>T (p.Trp844Cys)
18g.53391792G>ACA402472060DCCc.2593G>A (p.Ala865Thr)
c.2257-5516G>A
c.2524G>A (p.Ala842Thr)
c.9G>A
c.1498G>A (p.Ala500Thr)
c.1558G>A (p.Ala520Thr)
c.2533G>A (p.Ala845Thr)
 gnomAD v4
18g.53391792G>CCA402472061DCCc.2593G>C (p.Ala865Pro)
c.2257-5516G>C
c.2524G>C (p.Ala842Pro)
c.9G>C
c.1498G>C (p.Ala500Pro)
c.1558G>C (p.Ala520Pro)
c.2533G>C (p.Ala845Pro)
18g.53391792G>TCA402472062DCCc.2593G>T (p.Ala865Ser)
c.2257-5516G>T
c.2524G>T (p.Ala842Ser)
c.9G>T
c.1498G>T (p.Ala500Ser)
c.1558G>T (p.Ala520Ser)
c.2533G>T (p.Ala845Ser)
18g.53391793C>ACA402472064DCCc.2594C>A (p.Ala865Glu)
c.2257-5515C>A
c.2525C>A (p.Ala842Glu)
c.10C>A
c.1499C>A (p.Ala500Glu)
c.1559C>A (p.Ala520Glu)
c.2534C>A (p.Ala845Glu)
 COSMIC COSMIC
18g.53391793C>GCA402472065DCCc.2594C>G (p.Ala865Gly)
c.2257-5515C>G
c.2525C>G (p.Ala842Gly)
c.10C>G
c.1499C>G (p.Ala500Gly)
c.1559C>G (p.Ala520Gly)
c.2534C>G (p.Ala845Gly)
18g.53391793C>TCA402472063DCCc.2594C>T (p.Ala865Val)
c.2257-5515C>T
c.2525C>T (p.Ala842Val)
c.10C>T
c.1499C>T (p.Ala500Val)
c.1559C>T (p.Ala520Val)
c.2534C>T (p.Ala845Val)
 gnomAD v4
18g.53391794A=CA2304132173DCCc.2595A= (p.Ala865=)
c.2257-5514A=
c.2526A= (p.Ala842=)
c.11A=
c.1500A= (p.Ala500=)
c.1560A= (p.Ala520=)
c.2535A= (p.Ala845=)
18g.53391794A>CCA503875853DCCc.2595A>C (p.Ala865=)
c.2257-5514A>C
c.2526A>C (p.Ala842=)
c.11A>C
c.1500A>C (p.Ala500=)
c.1560A>C (p.Ala520=)
c.2535A>C (p.Ala845=)
 dbSNP gnomAD v2 gnomAD v4
18g.53391794A>GCA503875859DCCc.2595A>G (p.Ala865=)
c.2257-5514A>G
c.2526A>G (p.Ala842=)
c.11A>G
c.1500A>G (p.Ala500=)
c.1560A>G (p.Ala520=)
c.2535A>G (p.Ala845=)
 dbSNP
18g.53391794A>TCA503875856DCCc.2595A>T (p.Ala865=)
c.2257-5514A>T
c.2526A>T (p.Ala842=)
c.11A>T
c.1500A>T (p.Ala500=)
c.1560A>T (p.Ala520=)
c.2535A>T (p.Ala845=)
18g.53391795G>ACA402472066DCCc.2596G>A (p.Asp866Asn)
c.2257-5513G>A
c.2527G>A (p.Asp843Asn)
c.12G>A
c.1501G>A (p.Asp501Asn)
c.1561G>A (p.Asp521Asn)
c.2536G>A (p.Asp846Asn)
 COSMIC COSMIC
18g.53391795G>CCA402472067DCCc.2596G>C (p.Asp866His)
c.2257-5513G>C
c.2527G>C (p.Asp843His)
c.12G>C
c.1501G>C (p.Asp501His)
c.1561G>C (p.Asp521His)
c.2536G>C (p.Asp846His)
18g.53391795G=CA2304132174DCCc.2596G= (p.Asp866=)
c.2257-5513G=
c.2527G= (p.Asp843=)
c.12G=
c.1501G= (p.Asp501=)
c.1561G= (p.Asp521=)
c.2536G= (p.Asp846=)
18g.53391795G>TCA402472068DCCc.2596G>T (p.Asp866Tyr)
c.2257-5513G>T
c.2527G>T (p.Asp843Tyr)
c.12G>T
c.1501G>T (p.Asp501Tyr)
c.1561G>T (p.Asp521Tyr)
c.2536G>T (p.Asp846Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.53391796delCA2576506863DCCc.2597del (p.Asp866AlafsTer?)
c.2257-5512del
c.2528del (p.Asp843AlafsTer?)
c.13del
c.1502del (p.Asp501AlafsTer?)
c.1562del (p.Asp521AlafsTer?)
c.2537del (p.Asp846AlafsTer?)
 gnomAD v4
18g.53391796A>CCA402472069DCCc.2597A>C (p.Asp866Ala)
c.2257-5512A>C
c.2528A>C (p.Asp843Ala)
c.13A>C
c.1502A>C (p.Asp501Ala)
c.1562A>C (p.Asp521Ala)
c.2537A>C (p.Asp846Ala)
18g.53391796A>GCA402472070DCCc.2597A>G (p.Asp866Gly)
c.2257-5512A>G
c.2528A>G (p.Asp843Gly)
c.13A>G
c.1502A>G (p.Asp501Gly)
c.1562A>G (p.Asp521Gly)
c.2537A>G (p.Asp846Gly)
18g.53391796A>TCA402472071DCCc.2597A>T (p.Asp866Val)
c.2257-5512A>T
c.2528A>T (p.Asp843Val)
c.13A>T
c.1502A>T (p.Asp501Val)
c.1562A>T (p.Asp521Val)
c.2537A>T (p.Asp846Val)
18g.53391797C>ACA402472072DCCc.2598C>A (p.Asp866Glu)
c.2257-5511C>A
c.2529C>A (p.Asp843Glu)
c.14C>A
c.1503C>A (p.Asp501Glu)
c.1563C>A (p.Asp521Glu)
c.2538C>A (p.Asp846Glu)
18g.53391797C>GCA402472073DCCc.2598C>G (p.Asp866Glu)
c.2257-5511C>G
c.2529C>G (p.Asp843Glu)
c.14C>G
c.1503C>G (p.Asp501Glu)
c.1563C>G (p.Asp521Glu)
c.2538C>G (p.Asp846Glu)
18g.53391797C>TCA503875872DCCc.2598C>T (p.Asp866=)
c.2257-5511C>T
c.2529C>T (p.Asp843=)
c.14C>T
c.1503C>T (p.Asp501=)
c.1563C>T (p.Asp521=)
c.2538C>T (p.Asp846=)
18g.53391798A=CA2304132175DCCc.2599A= (p.Asn867=)
c.2257-5510A=
c.2530A= (p.Asn844=)
c.15A=
c.1504A= (p.Asn502=)
c.1564A= (p.Asn522=)
c.2539A= (p.Asn847=)
18g.53391798A>CCA402472074DCCc.2599A>C (p.Asn867His)
c.2257-5510A>C
c.2530A>C (p.Asn844His)
c.15A>C
c.1504A>C (p.Asn502His)
c.1564A>C (p.Asn522His)
c.2539A>C (p.Asn847His)
 dbSNP
18g.53391798A>GCA402472075DCCc.2599A>G (p.Asn867Asp)
c.2257-5510A>G
c.2530A>G (p.Asn844Asp)
c.15A>G
c.1504A>G (p.Asn502Asp)
c.1564A>G (p.Asn522Asp)
c.2539A>G (p.Asn847Asp)
18g.53391798A>TCA402472076DCCc.2599A>T (p.Asn867Tyr)
c.2257-5510A>T
c.2530A>T (p.Asn844Tyr)
c.15A>T
c.1504A>T (p.Asn502Tyr)
c.1564A>T (p.Asn522Tyr)
c.2539A>T (p.Asn847Tyr)
18g.53391799A=CA2304132176DCCc.2600A= (p.Asn867=)
c.2257-5509A=
c.2531A= (p.Asn844=)
c.16A=
c.1505A= (p.Asn502=)
c.1565A= (p.Asn522=)
c.2540A= (p.Asn847=)
18g.53391799A>CCA402472077DCCc.2600A>C (p.Asn867Thr)
c.2257-5509A>C
c.2531A>C (p.Asn844Thr)
c.16A>C
c.1505A>C (p.Asn502Thr)
c.1565A>C (p.Asn522Thr)
c.2540A>C (p.Asn847Thr)
18g.53391799A>GCA300692996DCCc.2600A>G (p.Asn867Ser)
c.2257-5509A>G
c.2531A>G (p.Asn844Ser)
c.16A>G
c.1505A>G (p.Asn502Ser)
c.1565A>G (p.Asn522Ser)
c.2540A>G (p.Asn847Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53391799A>TCA402472078DCCc.2600A>T (p.Asn867Ile)
c.2257-5509A>T
c.2531A>T (p.Asn844Ile)
c.16A>T
c.1505A>T (p.Asn502Ile)
c.1565A>T (p.Asn522Ile)
c.2540A>T (p.Asn847Ile)
18g.53391800C>ACA402472079DCCc.2601C>A (p.Asn867Lys)
c.2257-5508C>A
c.2532C>A (p.Asn844Lys)
c.17C>A
c.1506C>A (p.Asn502Lys)
c.1566C>A (p.Asn522Lys)
c.2541C>A (p.Asn847Lys)
18g.53391800C=CA2304132177DCCc.2601C= (p.Asn867=)
c.2257-5508C=
c.2532C= (p.Asn844=)
c.17C=
c.1506C= (p.Asn502=)
c.1566C= (p.Asn522=)
c.2541C= (p.Asn847=)
18g.53391800C>GCA402472080DCCc.2601C>G (p.Asn867Lys)
c.2257-5508C>G
c.2532C>G (p.Asn844Lys)
c.17C>G
c.1506C>G (p.Asn502Lys)
c.1566C>G (p.Asn522Lys)
c.2541C>G (p.Asn847Lys)
18g.53391800C>TCA8967230DCCc.2601C>T (p.Asn867=)
c.2257-5508C>T
c.2532C>T (p.Asn844=)
c.17C>T
c.1506C>T (p.Asn502=)
c.1566C>T (p.Asn522=)
c.2541C>T (p.Asn847=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391801T>ACA402472082DCCc.2602T>A (p.Ser868Thr)
c.2257-5507T>A
c.2533T>A (p.Ser845Thr)
c.18T>A
c.1507T>A (p.Ser503Thr)
c.1567T>A (p.Ser523Thr)
c.2542T>A (p.Ser848Thr)
18g.53391801T>CCA402472081DCCc.2602T>C (p.Ser868Pro)
c.2257-5507T>C
c.2533T>C (p.Ser845Pro)
c.18T>C
c.1507T>C (p.Ser503Pro)
c.1567T>C (p.Ser523Pro)
c.2542T>C (p.Ser848Pro)
 gnomAD v4
18g.53391801T>GCA402472083DCCc.2602T>G (p.Ser868Ala)
c.2257-5507T>G
c.2533T>G (p.Ser845Ala)
c.18T>G
c.1507T>G (p.Ser503Ala)
c.1567T>G (p.Ser523Ala)
c.2542T>G (p.Ser848Ala)
18g.53391802C>ACA402472084DCCc.2603C>A (p.Ser868Tyr)
c.2257-5506C>A
c.2534C>A (p.Ser845Tyr)
c.19C>A
c.1508C>A (p.Ser503Tyr)
c.1568C>A (p.Ser523Tyr)
c.2543C>A (p.Ser848Tyr)
18g.53391802C=CA2304132178DCCc.2603C= (p.Ser868=)
c.2257-5506C=
c.2534C= (p.Ser845=)
c.19C=
c.1508C= (p.Ser503=)
c.1568C= (p.Ser523=)
c.2543C= (p.Ser848=)
18g.53391802C>GCA402472085DCCc.2603C>G (p.Ser868Cys)
c.2257-5506C>G
c.2534C>G (p.Ser845Cys)
c.19C>G
c.1508C>G (p.Ser503Cys)
c.1568C>G (p.Ser523Cys)
c.2543C>G (p.Ser848Cys)
 gnomAD v4
18g.53391802C>TCA8967231DCCc.2603C>T (p.Ser868Phe)
c.2257-5506C>T
c.2534C>T (p.Ser845Phe)
c.19C>T
c.1508C>T (p.Ser503Phe)
c.1568C>T (p.Ser523Phe)
c.2543C>T (p.Ser848Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391803T>ACA503875893DCCc.2604T>A (p.Ser868=)
c.2257-5505T>A
c.2535T>A (p.Ser845=)
c.20T>A
c.1509T>A (p.Ser503=)
c.1569T>A (p.Ser523=)
c.2544T>A (p.Ser848=)
18g.53391803T>CCA8967232DCCc.2604T>C (p.Ser868=)
c.2257-5505T>C
c.2535T>C (p.Ser845=)
c.20T>C
c.1509T>C (p.Ser503=)
c.1569T>C (p.Ser523=)
c.2544T>C (p.Ser848=)
 dbSNP ExAC gnomAD v2
18g.53391803T>GCA503875896DCCc.2604T>G (p.Ser868=)
c.2257-5505T>G
c.2535T>G (p.Ser845=)
c.20T>G
c.1509T>G (p.Ser503=)
c.1569T>G (p.Ser523=)
c.2544T>G (p.Ser848=)
18g.53391803T=CA2304132179DCCc.2604T= (p.Ser868=)
c.2257-5505T=
c.2535T= (p.Ser845=)
c.20T=
c.1509T= (p.Ser503=)
c.1569T= (p.Ser523=)
c.2544T= (p.Ser848=)
18g.53391804G>ACA402472086DCCc.2605G>A (p.Val869Ile)
c.2257-5504G>A
c.2536G>A (p.Val846Ile)
c.21G>A
c.1510G>A (p.Val504Ile)
c.1570G>A (p.Val524Ile)
c.2545G>A (p.Val849Ile)
 dbSNP
18g.53391804G>CCA402472087DCCc.2605G>C (p.Val869Leu)
c.2257-5504G>C
c.2536G>C (p.Val846Leu)
c.21G>C
c.1510G>C (p.Val504Leu)
c.1570G>C (p.Val524Leu)
c.2545G>C (p.Val849Leu)
18g.53391804G=CA2304132180DCCc.2605G= (p.Val869=)
c.2257-5504G=
c.2536G= (p.Val846=)
c.21G=
c.1510G= (p.Val504=)
c.1570G= (p.Val524=)
c.2545G= (p.Val849=)
18g.53391804G>TCA402472088DCCc.2605G>T (p.Val869Phe)
c.2257-5504G>T
c.2536G>T (p.Val846Phe)
c.21G>T
c.1510G>T (p.Val504Phe)
c.1570G>T (p.Val524Phe)
c.2545G>T (p.Val849Phe)
18g.53391805T>ACA402472089DCCc.2606T>A (p.Val869Asp)
c.2257-5503T>A
c.2537T>A (p.Val846Asp)
c.22T>A
c.1511T>A (p.Val504Asp)
c.1571T>A (p.Val524Asp)
c.2546T>A (p.Val849Asp)
18g.53391805T>CCA402472090DCCc.2606T>C (p.Val869Ala)
c.2257-5503T>C
c.2537T>C (p.Val846Ala)
c.22T>C
c.1511T>C (p.Val504Ala)
c.1571T>C (p.Val524Ala)
c.2546T>C (p.Val849Ala)
18g.53391805T>GCA402472091DCCc.2606T>G (p.Val869Gly)
c.2257-5503T>G
c.2537T>G (p.Val846Gly)
c.22T>G
c.1511T>G (p.Val504Gly)
c.1571T>G (p.Val524Gly)
c.2546T>G (p.Val849Gly)
18g.53391806C>ACA503875907DCCc.2607C>A (p.Val869=)
c.2257-5502C>A
c.2538C>A (p.Val846=)
c.23C>A
c.1512C>A (p.Val504=)
c.1572C>A (p.Val524=)
c.2547C>A (p.Val849=)
18g.53391806C=CA2304132181DCCc.2607C= (p.Val869=)
c.2257-5502C=
c.2538C= (p.Val846=)
c.23C=
c.1512C= (p.Val504=)
c.1572C= (p.Val524=)
c.2547C= (p.Val849=)
18g.53391806C>GCA503875903DCCc.2607C>G (p.Val869=)
c.2257-5502C>G
c.2538C>G (p.Val846=)
c.23C>G
c.1512C>G (p.Val504=)
c.1572C>G (p.Val524=)
c.2547C>G (p.Val849=)
18g.53391806C>TCA503875905DCCc.2607C>T (p.Val869=)
c.2257-5502C>T
c.2538C>T (p.Val846=)
c.23C>T
c.1512C>T (p.Val504=)
c.1572C>T (p.Val524=)
c.2547C>T (p.Val849=)
 dbSNP COSMIC COSMIC
18g.53391807C>ACA402472092DCCc.2608C>A (p.Pro870Thr)
c.2257-5501C>A
c.2539C>A (p.Pro847Thr)
c.24C>A
c.1513C>A (p.Pro505Thr)
c.1573C>A (p.Pro525Thr)
c.2548C>A (p.Pro850Thr)
18g.53391807C=CA2304132182DCCc.2608C= (p.Pro870=)
c.2257-5501C=
c.2539C= (p.Pro847=)
c.24C=
c.1513C= (p.Pro505=)
c.1573C= (p.Pro525=)
c.2548C= (p.Pro850=)
18g.53391807C>GCA402472093DCCc.2608C>G (p.Pro870Ala)
c.2257-5501C>G
c.2539C>G (p.Pro847Ala)
c.24C>G
c.1513C>G (p.Pro505Ala)
c.1573C>G (p.Pro525Ala)
c.2548C>G (p.Pro850Ala)
 dbSNP gnomAD v4
18g.53391807C>TCA402472094DCCc.2608C>T (p.Pro870Ser)
c.2257-5501C>T
c.2539C>T (p.Pro847Ser)
c.24C>T
c.1513C>T (p.Pro505Ser)
c.1573C>T (p.Pro525Ser)
c.2548C>T (p.Pro850Ser)
 gnomAD v4 COSMIC COSMIC
18g.53391808C>ACA402472097DCCc.2609C>A (p.Pro870His)
c.2257-5500C>A
c.2540C>A (p.Pro847His)
c.25C>A
c.1514C>A (p.Pro505His)
c.1574C>A (p.Pro525His)
c.2549C>A (p.Pro850His)
18g.53391808C=CA2304132183DCCc.2609C= (p.Pro870=)
c.2257-5500C=
c.2540C= (p.Pro847=)
c.25C=
c.1514C= (p.Pro505=)
c.1574C= (p.Pro525=)
c.2549C= (p.Pro850=)
18g.53391808C>GCA402472095DCCc.2609C>G (p.Pro870Arg)
c.2257-5500C>G
c.2540C>G (p.Pro847Arg)
c.25C>G
c.1514C>G (p.Pro505Arg)
c.1574C>G (p.Pro525Arg)
c.2549C>G (p.Pro850Arg)
 dbSNP
18g.53391808C>TCA402472096DCCc.2609C>T (p.Pro870Leu)
c.2257-5500C>T
c.2540C>T (p.Pro847Leu)
c.25C>T
c.1514C>T (p.Pro505Leu)
c.1574C>T (p.Pro525Leu)
c.2549C>T (p.Pro850Leu)
18g.53391809T>ACA503875919DCCc.2610T>A (p.Pro870=)
c.2257-5499T>A
c.2541T>A (p.Pro847=)
c.26T>A
c.1515T>A (p.Pro505=)
c.1575T>A (p.Pro525=)
c.2550T>A (p.Pro850=)
18g.53391809T>CCA503875921DCCc.2610T>C (p.Pro870=)
c.2257-5499T>C
c.2541T>C (p.Pro847=)
c.26T>C
c.1515T>C (p.Pro505=)
c.1575T>C (p.Pro525=)
c.2550T>C (p.Pro850=)
18g.53391809T>GCA503875924DCCc.2610T>G (p.Pro870=)
c.2257-5499T>G
c.2541T>G (p.Pro847=)
c.26T>G
c.1515T>G (p.Pro505=)
c.1575T>G (p.Pro525=)
c.2550T>G (p.Pro850=)
18g.53391810A>CCA402472098DCCc.2611A>C (p.Lys871Gln)
c.2257-5498A>C
c.2542A>C (p.Lys848Gln)
c.27A>C
c.1516A>C (p.Lys506Gln)
c.1576A>C (p.Lys526Gln)
c.2551A>C (p.Lys851Gln)
18g.53391810A>GCA402472099DCCc.2611A>G (p.Lys871Glu)
c.2257-5498A>G
c.2542A>G (p.Lys848Glu)
c.27A>G
c.1516A>G (p.Lys506Glu)
c.1576A>G (p.Lys526Glu)
c.2551A>G (p.Lys851Glu)
18g.53391810A>TCA402472100DCCc.2611A>T (p.Lys871Ter)
c.2257-5498A>T
c.2542A>T (p.Lys848Ter)
c.27A>T
c.1516A>T (p.Lys506Ter)
c.1576A>T (p.Lys526Ter)
c.2551A>T (p.Lys851Ter)
18g.53391811A>CCA402472101DCCc.2612A>C (p.Lys871Thr)
c.2257-5497A>C
c.2543A>C (p.Lys848Thr)
c.28A>C
c.1517A>C (p.Lys506Thr)
c.1577A>C (p.Lys526Thr)
c.2552A>C (p.Lys851Thr)
18g.53391811A>GCA402472102DCCc.2612A>G (p.Lys871Arg)
c.2257-5497A>G
c.2543A>G (p.Lys848Arg)
c.28A>G
c.1517A>G (p.Lys506Arg)
c.1577A>G (p.Lys526Arg)
c.2552A>G (p.Lys851Arg)
18g.53391811A>TCA402472103DCCc.2612A>T (p.Lys871Met)
c.2257-5497A>T
c.2543A>T (p.Lys848Met)
c.28A>T
c.1517A>T (p.Lys506Met)
c.1577A>T (p.Lys526Met)
c.2552A>T (p.Lys851Met)
18g.53391812G>ACA503875936DCCc.2613G>A (p.Lys871=)
c.2257-5496G>A
c.2544G>A (p.Lys848=)
c.29G>A
c.1518G>A (p.Lys506=)
c.1578G>A (p.Lys526=)
c.2553G>A (p.Lys851=)
18g.53391812G>CCA402472104DCCc.2613G>C (p.Lys871Asn)
c.2257-5496G>C
c.2544G>C (p.Lys848Asn)
c.29G>C
c.1518G>C (p.Lys506Asn)
c.1578G>C (p.Lys526Asn)
c.2553G>C (p.Lys851Asn)
18g.53391812G>TCA402472105DCCc.2613G>T (p.Lys871Asn)
c.2257-5496G>T
c.2544G>T (p.Lys848Asn)
c.29G>T
c.1518G>T (p.Lys506Asn)
c.1578G>T (p.Lys526Asn)
c.2553G>T (p.Lys851Asn)
18g.53391813A>CCA402472106DCCc.2614A>C (p.Asn872His)
c.2257-5495A>C
c.2545A>C (p.Asn849His)
c.30A>C
c.1519A>C (p.Asn507His)
c.1579A>C (p.Asn527His)
c.2554A>C (p.Asn852His)
18g.53391813A>GCA402472107DCCc.2614A>G (p.Asn872Asp)
c.2257-5495A>G
c.2545A>G (p.Asn849Asp)
c.30A>G
c.1519A>G (p.Asn507Asp)
c.1579A>G (p.Asn527Asp)
c.2554A>G (p.Asn852Asp)
18g.53391813A>TCA402472108DCCc.2614A>T (p.Asn872Tyr)
c.2257-5495A>T
c.2545A>T (p.Asn849Tyr)
c.30A>T
c.1519A>T (p.Asn507Tyr)
c.1579A>T (p.Asn527Tyr)
c.2554A>T (p.Asn852Tyr)
18g.53391814A=CA2304132184DCCc.2615A= (p.Asn872=)
c.2257-5494A=
c.2546A= (p.Asn849=)
c.31A=
c.1520A= (p.Asn507=)
c.1580A= (p.Asn527=)
c.2555A= (p.Asn852=)
18g.53391814A>CCA402472111DCCc.2615A>C (p.Asn872Thr)
c.2257-5494A>C
c.2546A>C (p.Asn849Thr)
c.31A>C
c.1520A>C (p.Asn507Thr)
c.1580A>C (p.Asn527Thr)
c.2555A>C (p.Asn852Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.53391814A>GCA402472110DCCc.2615A>G (p.Asn872Ser)
c.2257-5494A>G
c.2546A>G (p.Asn849Ser)
c.31A>G
c.1520A>G (p.Asn507Ser)
c.1580A>G (p.Asn527Ser)
c.2555A>G (p.Asn852Ser)
18g.53391814A>TCA402472109DCCc.2615A>T (p.Asn872Ile)
c.2257-5494A>T
c.2546A>T (p.Asn849Ile)
c.31A>T
c.1520A>T (p.Asn507Ile)
c.1580A>T (p.Asn527Ile)
c.2555A>T (p.Asn852Ile)
18g.53391815C>ACA402472112DCCc.2616C>A (p.Asn872Lys)
c.2257-5493C>A
c.2547C>A (p.Asn849Lys)
c.32C>A
c.1521C>A (p.Asn507Lys)
c.1581C>A (p.Asn527Lys)
c.2556C>A (p.Asn852Lys)
 gnomAD v4
18g.53391815C=CA2304132185DCCc.2616C= (p.Asn872=)
c.2257-5493C=
c.2547C= (p.Asn849=)
c.32C=
c.1521C= (p.Asn507=)
c.1581C= (p.Asn527=)
c.2556C= (p.Asn852=)
18g.53391815C>GCA402472113DCCc.2616C>G (p.Asn872Lys)
c.2257-5493C>G
c.2547C>G (p.Asn849Lys)
c.32C>G
c.1521C>G (p.Asn507Lys)
c.1581C>G (p.Asn527Lys)
c.2556C>G (p.Asn852Lys)
18g.53391815C>TCA503875950DCCc.2616C>T (p.Asn872=)
c.2257-5493C>T
c.2547C>T (p.Asn849=)
c.32C>T
c.1521C>T (p.Asn507=)
c.1581C>T (p.Asn527=)
c.2556C>T (p.Asn852=)
 dbSNP gnomAD v4
18g.53391816C>ACA402472114DCCc.2617C>A (p.Gln873Lys)
c.2257-5492C>A
c.2548C>A (p.Gln850Lys)
c.33C>A
c.1522C>A (p.Gln508Lys)
c.1582C>A (p.Gln528Lys)
c.2557C>A (p.Gln853Lys)
18g.53391816C>GCA402472115DCCc.2617C>G (p.Gln873Glu)
c.2257-5492C>G
c.2548C>G (p.Gln850Glu)
c.33C>G
c.1522C>G (p.Gln508Glu)
c.1582C>G (p.Gln528Glu)
c.2557C>G (p.Gln853Glu)
 gnomAD v4
18g.53391816C>TCA402472116DCCc.2617C>T (p.Gln873Ter)
c.2257-5492C>T
c.2548C>T (p.Gln850Ter)
c.33C>T
c.1522C>T (p.Gln508Ter)
c.1582C>T (p.Gln528Ter)
c.2557C>T (p.Gln853Ter)
18g.53391817A=CA2304132186DCCc.2618A= (p.Gln873=)
c.2257-5491A=
c.2549A= (p.Gln850=)
c.34A=
c.1523A= (p.Gln508=)
c.1583A= (p.Gln528=)
c.2558A= (p.Gln853=)
18g.53391817A>CCA402472117DCCc.2618A>C (p.Gln873Pro)
c.2257-5491A>C
c.2549A>C (p.Gln850Pro)
c.34A>C
c.1523A>C (p.Gln508Pro)
c.1583A>C (p.Gln528Pro)
c.2558A>C (p.Gln853Pro)
18g.53391817A>GCA402472118DCCc.2618A>G (p.Gln873Arg)
c.2257-5491A>G
c.2549A>G (p.Gln850Arg)
c.34A>G
c.1523A>G (p.Gln508Arg)
c.1583A>G (p.Gln528Arg)
c.2558A>G (p.Gln853Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.53391817A>TCA402472119DCCc.2618A>T (p.Gln873Leu)
c.2257-5491A>T
c.2549A>T (p.Gln850Leu)
c.34A>T
c.1523A>T (p.Gln508Leu)
c.1583A>T (p.Gln528Leu)
c.2558A>T (p.Gln853Leu)
18g.53391818A>CCA402472120DCCc.2619A>C (p.Gln873His)
c.2257-5490A>C
c.2550A>C (p.Gln850His)
c.35A>C
c.1524A>C (p.Gln508His)
c.1584A>C (p.Gln528His)
c.2559A>C (p.Gln853His)
18g.53391818A>GCA503875961DCCc.2619A>G (p.Gln873=)
c.2257-5490A>G
c.2550A>G (p.Gln850=)
c.35A>G
c.1524A>G (p.Gln508=)
c.1584A>G (p.Gln528=)
c.2559A>G (p.Gln853=)
18g.53391818A>TCA402472121DCCc.2619A>T (p.Gln873His)
c.2257-5490A>T
c.2550A>T (p.Gln850His)
c.35A>T
c.1524A>T (p.Gln508His)
c.1584A>T (p.Gln528His)
c.2559A>T (p.Gln853His)
18g.53391819A>CCA402472122DCCc.2620A>C (p.Lys874Gln)
c.2257-5489A>C
c.2551A>C (p.Lys851Gln)
c.36A>C
c.1525A>C (p.Lys509Gln)
c.1585A>C (p.Lys529Gln)
c.2560A>C (p.Lys854Gln)
18g.53391819A>GCA402472123DCCc.2620A>G (p.Lys874Glu)
c.2257-5489A>G
c.2551A>G (p.Lys851Glu)
c.36A>G
c.1525A>G (p.Lys509Glu)
c.1585A>G (p.Lys529Glu)
c.2560A>G (p.Lys854Glu)
18g.53391819A>TCA402472124DCCc.2620A>T (p.Lys874Ter)
c.2257-5489A>T
c.2551A>T (p.Lys851Ter)
c.36A>T
c.1525A>T (p.Lys509Ter)
c.1585A>T (p.Lys529Ter)
c.2560A>T (p.Lys854Ter)
18g.53391820A>CCA402472127DCCc.2621A>C (p.Lys874Thr)
c.2257-5488A>C
c.2552A>C (p.Lys851Thr)
c.37A>C
c.1526A>C (p.Lys509Thr)
c.1586A>C (p.Lys529Thr)
c.2561A>C (p.Lys854Thr)
18g.53391820A>GCA402472125DCCc.2621A>G (p.Lys874Arg)
c.2257-5488A>G
c.2552A>G (p.Lys851Arg)
c.37A>G
c.1526A>G (p.Lys509Arg)
c.1586A>G (p.Lys529Arg)
c.2561A>G (p.Lys854Arg)
18g.53391820A>TCA402472126DCCc.2621A>T (p.Lys874Met)
c.2257-5488A>T
c.2552A>T (p.Lys851Met)
c.37A>T
c.1526A>T (p.Lys509Met)
c.1586A>T (p.Lys529Met)
c.2561A>T (p.Lys854Met)
18g.53391821G>ACA503875976DCCc.2622G>A (p.Lys874=)
c.2257-5487G>A
c.2553G>A (p.Lys851=)
c.38G>A
c.1527G>A (p.Lys509=)
c.1587G>A (p.Lys529=)
c.2562G>A (p.Lys854=)
 gnomAD v4 COSMIC COSMIC
18g.53391821G>CCA402472128DCCc.2622G>C (p.Lys874Asn)
c.2257-5487G>C
c.2553G>C (p.Lys851Asn)
c.38G>C
c.1527G>C (p.Lys509Asn)
c.1587G>C (p.Lys529Asn)
c.2562G>C (p.Lys854Asn)
18g.53391821G>TCA402472129DCCc.2622G>T (p.Lys874Asn)
c.2257-5487G>T
c.2553G>T (p.Lys851Asn)
c.38G>T
c.1527G>T (p.Lys509Asn)
c.1587G>T (p.Lys529Asn)
c.2562G>T (p.Lys854Asn)
18g.53391822A=CA2304132187DCCc.2623A= (p.Thr875=)
c.2257-5486A=
c.2554A= (p.Thr852=)
c.39A=
c.1528A= (p.Thr510=)
c.1588A= (p.Thr530=)
c.2563A= (p.Thr855=)
18g.53391822A>CCA402472130DCCc.2623A>C (p.Thr875Pro)
c.2257-5486A>C
c.2554A>C (p.Thr852Pro)
c.39A>C
c.1528A>C (p.Thr510Pro)
c.1588A>C (p.Thr530Pro)
c.2563A>C (p.Thr855Pro)
 dbSNP
18g.53391822A>GCA402472131DCCc.2623A>G (p.Thr875Ala)
c.2257-5486A>G
c.2554A>G (p.Thr852Ala)
c.39A>G
c.1528A>G (p.Thr510Ala)
c.1588A>G (p.Thr530Ala)
c.2563A>G (p.Thr855Ala)
 gnomAD v4
18g.53391822A>TCA402472132DCCc.2623A>T (p.Thr875Ser)
c.2257-5486A>T
c.2554A>T (p.Thr852Ser)
c.39A>T
c.1528A>T (p.Thr510Ser)
c.1588A>T (p.Thr530Ser)
c.2563A>T (p.Thr855Ser)
18g.53391823C>ACA402472133DCCc.2624C>A (p.Thr875Lys)
c.2257-5485C>A
c.2555C>A (p.Thr852Lys)
c.40C>A
c.1529C>A (p.Thr510Lys)
c.1589C>A (p.Thr530Lys)
c.2564C>A (p.Thr855Lys)
18g.53391823C=CA2304132188DCCc.2624C= (p.Thr875=)
c.2257-5485C=
c.2555C= (p.Thr852=)
c.40C=
c.1529C= (p.Thr510=)
c.1589C= (p.Thr530=)
c.2564C= (p.Thr855=)
18g.53391823C>GCA402472134DCCc.2624C>G (p.Thr875Arg)
c.2257-5485C>G
c.2555C>G (p.Thr852Arg)
c.40C>G
c.1529C>G (p.Thr510Arg)
c.1589C>G (p.Thr530Arg)
c.2564C>G (p.Thr855Arg)
18g.53391823C>TCA8967233DCCc.2624C>T (p.Thr875Met)
c.2257-5485C>T
c.2555C>T (p.Thr852Met)
c.40C>T
c.1529C>T (p.Thr510Met)
c.1589C>T (p.Thr530Met)
c.2564C>T (p.Thr855Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391824G>ACA8967234DCCc.2625G>A (p.Thr875=)
c.2257-5484G>A
c.2556G>A (p.Thr852=)
c.41G>A
c.1530G>A (p.Thr510=)
c.1590G>A (p.Thr530=)
c.2565G>A (p.Thr855=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391824G>CCA503875990DCCc.2625G>C (p.Thr875=)
c.2257-5484G>C
c.2556G>C (p.Thr852=)
c.41G>C
c.1530G>C (p.Thr510=)
c.1590G>C (p.Thr530=)
c.2565G>C (p.Thr855=)
18g.53391824G=CA2304132189DCCc.2625G= (p.Thr875=)
c.2257-5484G=
c.2556G= (p.Thr852=)
c.41G=
c.1530G= (p.Thr510=)
c.1590G= (p.Thr530=)
c.2565G= (p.Thr855=)
18g.53391824G>TCA503875991DCCc.2625G>T (p.Thr875=)
c.2257-5484G>T
c.2556G>T (p.Thr852=)
c.41G>T
c.1530G>T (p.Thr510=)
c.1590G>T (p.Thr530=)
c.2565G>T (p.Thr855=)
18g.53391825T>ACA402472135DCCc.2626T>A (p.Ser876Thr)
c.2257-5483T>A
c.2557T>A (p.Ser853Thr)
c.42T>A
c.1531T>A (p.Ser511Thr)
c.1591T>A (p.Ser531Thr)
c.2566T>A (p.Ser856Thr)
18g.53391825T>CCA402472136DCCc.2626T>C (p.Ser876Pro)
c.2257-5483T>C
c.2557T>C (p.Ser853Pro)
c.42T>C
c.1531T>C (p.Ser511Pro)
c.1591T>C (p.Ser531Pro)
c.2566T>C (p.Ser856Pro)
18g.53391825T>GCA8967235DCCc.2626T>G (p.Ser876Ala)
c.2257-5483T>G
c.2557T>G (p.Ser853Ala)
c.42T>G
c.1531T>G (p.Ser511Ala)
c.1591T>G (p.Ser531Ala)
c.2566T>G (p.Ser856Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391825T=CA2304132190DCCc.2626T= (p.Ser876=)
c.2257-5483T=
c.2557T= (p.Ser853=)
c.42T=
c.1531T= (p.Ser511=)
c.1591T= (p.Ser531=)
c.2566T= (p.Ser856=)
18g.53391826C>ACA402472139DCCc.2627C>A (p.Ser876Tyr)
c.2257-5482C>A
c.2558C>A (p.Ser853Tyr)
c.43C>A
c.1532C>A (p.Ser511Tyr)
c.1592C>A (p.Ser531Tyr)
c.2567C>A (p.Ser856Tyr)
 gnomAD v4
18g.53391826C=CA2304132191DCCc.2627C= (p.Ser876=)
c.2257-5482C=
c.2558C= (p.Ser853=)
c.43C=
c.1532C= (p.Ser511=)
c.1592C= (p.Ser531=)
c.2567C= (p.Ser856=)
18g.53391826C>GCA402472138DCCc.2627C>G (p.Ser876Cys)
c.2257-5482C>G
c.2558C>G (p.Ser853Cys)
c.43C>G
c.1532C>G (p.Ser511Cys)
c.1592C>G (p.Ser531Cys)
c.2567C>G (p.Ser856Cys)
18g.53391826C>TCA402472137DCCc.2627C>T (p.Ser876Phe)
c.2257-5482C>T
c.2558C>T (p.Ser853Phe)
c.43C>T
c.1532C>T (p.Ser511Phe)
c.1592C>T (p.Ser531Phe)
c.2567C>T (p.Ser856Phe)
 dbSNP gnomAD v3 gnomAD v4
18g.53391827T>ACA503876002DCCc.2628T>A (p.Ser876=)
c.2257-5481T>A
c.2559T>A (p.Ser853=)
c.44T>A
c.1533T>A (p.Ser511=)
c.1593T>A (p.Ser531=)
c.2568T>A (p.Ser856=)
18g.53391827T>CCA503876007DCCc.2628T>C (p.Ser876=)
c.2257-5481T>C
c.2559T>C (p.Ser853=)
c.44T>C
c.1533T>C (p.Ser511=)
c.1593T>C (p.Ser531=)
c.2568T>C (p.Ser856=)
18g.53391827T>GCA503876004DCCc.2628T>G (p.Ser876=)
c.2257-5481T>G
c.2559T>G (p.Ser853=)
c.44T>G
c.1533T>G (p.Ser511=)
c.1593T>G (p.Ser531=)
c.2568T>G (p.Ser856=)
18g.53391828G>ACA402472140DCCc.2629G>A (p.Glu877Lys)
c.2257-5480G>A
c.2560G>A (p.Glu854Lys)
c.45G>A
c.1534G>A (p.Glu512Lys)
c.1594G>A (p.Glu532Lys)
c.2569G>A (p.Glu857Lys)
18g.53391828G>CCA402472142DCCc.2629G>C (p.Glu877Gln)
c.2257-5480G>C
c.2560G>C (p.Glu854Gln)
c.45G>C
c.1534G>C (p.Glu512Gln)
c.1594G>C (p.Glu532Gln)
c.2569G>C (p.Glu857Gln)
18g.53391828G>TCA402472141DCCc.2629G>T (p.Glu877Ter)
c.2257-5480G>T
c.2560G>T (p.Glu854Ter)
c.45G>T
c.1534G>T (p.Glu512Ter)
c.1594G>T (p.Glu532Ter)
c.2569G>T (p.Glu857Ter)
18g.53391829A>CCA402472143DCCc.2630A>C (p.Glu877Ala)
c.2257-5479A>C
c.2561A>C (p.Glu854Ala)
c.46A>C
c.1535A>C (p.Glu512Ala)
c.1595A>C (p.Glu532Ala)
c.2570A>C (p.Glu857Ala)
18g.53391829A>GCA402472144DCCc.2630A>G (p.Glu877Gly)
c.2257-5479A>G
c.2561A>G (p.Glu854Gly)
c.46A>G
c.1535A>G (p.Glu512Gly)
c.1595A>G (p.Glu532Gly)
c.2570A>G (p.Glu857Gly)
18g.53391829A>TCA402472145DCCc.2630A>T (p.Glu877Val)
c.2257-5479A>T
c.2561A>T (p.Glu854Val)
c.46A>T
c.1535A>T (p.Glu512Val)
c.1595A>T (p.Glu532Val)
c.2570A>T (p.Glu857Val)
18g.53391829dupCA2641857524DCCc.2630dup (p.Val878GlyfsTer?)
c.2257-5479dup
c.2561dup (p.Val855GlyfsTer?)
c.46dup
c.1535dup (p.Val513GlyfsTer?)
c.1595dup (p.Val533GlyfsTer?)
c.2570dup (p.Val858GlyfsTer?)
 gnomAD v4
18g.53391830G>ACA8967236DCCc.2631G>A (p.Glu877=)
c.2257-5478G>A
c.2562G>A (p.Glu854=)
c.47G>A
c.1536G>A (p.Glu512=)
c.1596G>A (p.Glu532=)
c.2571G>A (p.Glu857=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391830G>CCA402472146DCCc.2631G>C (p.Glu877Asp)
c.2257-5478G>C
c.2562G>C (p.Glu854Asp)
c.47G>C
c.1536G>C (p.Glu512Asp)
c.1596G>C (p.Glu532Asp)
c.2571G>C (p.Glu857Asp)
18g.53391830G=CA2304132192DCCc.2631G= (p.Glu877=)
c.2257-5478G=
c.2562G= (p.Glu854=)
c.47G=
c.1536G= (p.Glu512=)
c.1596G= (p.Glu532=)
c.2571G= (p.Glu857=)
18g.53391830G>TCA402472147DCCc.2631G>T (p.Glu877Asp)
c.2257-5478G>T
c.2562G>T (p.Glu854Asp)
c.47G>T
c.1536G>T (p.Glu512Asp)
c.1596G>T (p.Glu532Asp)
c.2571G>T (p.Glu857Asp)
18g.53391831G>ACA402472148DCCc.2632G>A (p.Val878Met)
c.2257-5477G>A
c.2563G>A (p.Val855Met)
c.48G>A
c.1537G>A (p.Val513Met)
c.1597G>A (p.Val533Met)
c.2572G>A (p.Val858Met)
 COSMIC COSMIC
18g.53391831G>CCA402472149DCCc.2632G>C (p.Val878Leu)
c.2257-5477G>C
c.2563G>C (p.Val855Leu)
c.48G>C
c.1537G>C (p.Val513Leu)
c.1597G>C (p.Val533Leu)
c.2572G>C (p.Val858Leu)
18g.53391831G>TCA402472150DCCc.2632G>T (p.Val878Leu)
c.2257-5477G>T
c.2563G>T (p.Val855Leu)
c.48G>T
c.1537G>T (p.Val513Leu)
c.1597G>T (p.Val533Leu)
c.2572G>T (p.Val858Leu)
 gnomAD v4
18g.53391832T>ACA402472151DCCc.2633T>A (p.Val878Glu)
c.2257-5476T>A
c.2564T>A (p.Val855Glu)
c.49T>A
c.1538T>A (p.Val513Glu)
c.1598T>A (p.Val533Glu)
c.2573T>A (p.Val858Glu)
18g.53391832T>CCA402472152DCCc.2633T>C (p.Val878Ala)
c.2257-5476T>C
c.2564T>C (p.Val855Ala)
c.49T>C
c.1538T>C (p.Val513Ala)
c.1598T>C (p.Val533Ala)
c.2573T>C (p.Val858Ala)
18g.53391832T>GCA402472153DCCc.2633T>G (p.Val878Gly)
c.2257-5476T>G
c.2564T>G (p.Val855Gly)
c.49T>G
c.1538T>G (p.Val513Gly)
c.1598T>G (p.Val533Gly)
c.2573T>G (p.Val858Gly)
18g.53391833G>ACA503876024DCCc.2634G>A (p.Val878=)
c.2257-5475G>A
c.2565G>A (p.Val855=)
c.50G>A
c.1539G>A (p.Val513=)
c.1599G>A (p.Val533=)
c.2574G>A (p.Val858=)
18g.53391833G>CCA503876025DCCc.2634G>C (p.Val878=)
c.2257-5475G>C
c.2565G>C (p.Val855=)
c.50G>C
c.1539G>C (p.Val513=)
c.1599G>C (p.Val533=)
c.2574G>C (p.Val858=)
18g.53391833G>TCA503876027DCCc.2634G>T (p.Val878=)
c.2257-5475G>T
c.2565G>T (p.Val855=)
c.50G>T
c.1539G>T (p.Val513=)
c.1599G>T (p.Val533=)
c.2574G>T (p.Val858=)
18g.53391834C>ACA8967237DCCc.2635C>A (p.Arg879=)
c.2257-5474C>A
c.2566C>A (p.Arg856=)
c.51C>A
c.1540C>A (p.Arg514=)
c.1600C>A (p.Arg534=)
c.2575C>A (p.Arg859=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391834C=CA2304132193DCCc.2635C= (p.Arg879=)
c.2257-5474C=
c.2566C= (p.Arg856=)
c.51C=
c.1540C= (p.Arg514=)
c.1600C= (p.Arg534=)
c.2575C= (p.Arg859=)
18g.53391834C>GCA402472155DCCc.2635C>G (p.Arg879Gly)
c.2257-5474C>G
c.2566C>G (p.Arg856Gly)
c.51C>G
c.1540C>G (p.Arg514Gly)
c.1600C>G (p.Arg534Gly)
c.2575C>G (p.Arg859Gly)
18g.53391834C>TCA402472154DCCc.2635C>T (p.Arg879Ter)
c.2257-5474C>T
c.2566C>T (p.Arg856Ter)
c.51C>T
c.1540C>T (p.Arg514Ter)
c.1600C>T (p.Arg534Ter)
c.2575C>T (p.Arg859Ter)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53391835G>ACA8967238DCCc.2636G>A (p.Arg879Gln)
c.2257-5473G>A
c.2567G>A (p.Arg856Gln)
c.52G>A
c.1541G>A (p.Arg514Gln)
c.1601G>A (p.Arg534Gln)
c.2576G>A (p.Arg859Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391835G>CCA402472156DCCc.2636G>C (p.Arg879Pro)
c.2257-5473G>C
c.2567G>C (p.Arg856Pro)
c.52G>C
c.1541G>C (p.Arg514Pro)
c.1601G>C (p.Arg534Pro)
c.2576G>C (p.Arg859Pro)
18g.53391835G=CA2304132194DCCc.2636G= (p.Arg879=)
c.2257-5473G=
c.2567G= (p.Arg856=)
c.52G=
c.1541G= (p.Arg514=)
c.1601G= (p.Arg534=)
c.2576G= (p.Arg859=)
18g.53391835G>TCA402472157DCCc.2636G>T (p.Arg879Leu)
c.2257-5473G>T
c.2567G>T (p.Arg856Leu)
c.52G>T
c.1541G>T (p.Arg514Leu)
c.1601G>T (p.Arg534Leu)
c.2576G>T (p.Arg859Leu)
 COSMIC COSMIC
18g.53391836A>CCA503876028DCCc.2637A>C (p.Arg879=)
c.2257-5472A>C
c.2568A>C (p.Arg856=)
c.53A>C
c.1542A>C (p.Arg514=)
c.1602A>C (p.Arg534=)
c.2577A>C (p.Arg859=)
18g.53391836A>GCA503876029DCCc.2637A>G (p.Arg879=)
c.2257-5472A>G
c.2568A>G (p.Arg856=)
c.53A>G
c.1542A>G (p.Arg514=)
c.1602A>G (p.Arg534=)
c.2577A>G (p.Arg859=)
18g.53391836A>TCA503876030DCCc.2637A>T (p.Arg879=)
c.2257-5472A>T
c.2568A>T (p.Arg856=)
c.53A>T
c.1542A>T (p.Arg514=)
c.1602A>T (p.Arg534=)
c.2577A>T (p.Arg859=)
18g.53391837C>ACA402472158DCCc.2638C>A (p.Leu880Ile)
c.2257-5471C>A
c.2569C>A (p.Leu857Ile)
c.54C>A
c.1543C>A (p.Leu515Ile)
c.1603C>A (p.Leu535Ile)
c.2578C>A (p.Leu860Ile)
18g.53391837C>GCA402472159DCCc.2638C>G (p.Leu880Val)
c.2257-5471C>G
c.2569C>G (p.Leu857Val)
c.54C>G
c.1543C>G (p.Leu515Val)
c.1603C>G (p.Leu535Val)
c.2578C>G (p.Leu860Val)
18g.53391837C>TCA402472160DCCc.2638C>T (p.Leu880Phe)
c.2257-5471C>T
c.2569C>T (p.Leu857Phe)
c.54C>T
c.1543C>T (p.Leu515Phe)
c.1603C>T (p.Leu535Phe)
c.2578C>T (p.Leu860Phe)
18g.53391838T>ACA402472161DCCc.2639T>A (p.Leu880His)
c.2257-5470T>A
c.2570T>A (p.Leu857His)
c.55T>A
c.1544T>A (p.Leu515His)
c.1604T>A (p.Leu535His)
c.2579T>A (p.Leu860His)
18g.53391838T>CCA402472162DCCc.2639T>C (p.Leu880Pro)
c.2257-5470T>C
c.2570T>C (p.Leu857Pro)
c.55T>C
c.1544T>C (p.Leu515Pro)
c.1604T>C (p.Leu535Pro)
c.2579T>C (p.Leu860Pro)
18g.53391838T>GCA402472163DCCc.2639T>G (p.Leu880Arg)
c.2257-5470T>G
c.2570T>G (p.Leu857Arg)
c.55T>G
c.1544T>G (p.Leu515Arg)
c.1604T>G (p.Leu535Arg)
c.2579T>G (p.Leu860Arg)
18g.53391840delCA2576506864DCCc.2641del (p.Tyr881ThrfsTer23)
c.2257-5468del
c.2572del (p.Tyr858ThrfsTer23)
c.57del
c.1546del (p.Tyr516ThrfsTer23)
c.1606del (p.Tyr536ThrfsTer23)
c.2581del (p.Tyr861ThrfsTer23)
18g.53391839T>ACA503876032DCCc.2640T>A (p.Leu880=)
c.2257-5469T>A
c.2571T>A (p.Leu857=)
c.56T>A
c.1545T>A (p.Leu515=)
c.1605T>A (p.Leu535=)
c.2580T>A (p.Leu860=)
 COSMIC
18g.53391839T>CCA503876034DCCc.2640T>C (p.Leu880=)
c.2257-5469T>C
c.2571T>C (p.Leu857=)
c.56T>C
c.1545T>C (p.Leu515=)
c.1605T>C (p.Leu535=)
c.2580T>C (p.Leu860=)
18g.53391839T>GCA503876033DCCc.2640T>G (p.Leu880=)
c.2257-5469T>G
c.2571T>G (p.Leu857=)
c.56T>G
c.1545T>G (p.Leu515=)
c.1605T>G (p.Leu535=)
c.2580T>G (p.Leu860=)
18g.53391840T>ACA402472164DCCc.2641T>A (p.Tyr881Asn)
c.2257-5468T>A
c.2572T>A (p.Tyr858Asn)
c.57T>A
c.1546T>A (p.Tyr516Asn)
c.1606T>A (p.Tyr536Asn)
c.2581T>A (p.Tyr861Asn)
18g.53391840T>CCA402472165DCCc.2641T>C (p.Tyr881His)
c.2257-5468T>C
c.2572T>C (p.Tyr858His)
c.57T>C
c.1546T>C (p.Tyr516His)
c.1606T>C (p.Tyr536His)
c.2581T>C (p.Tyr861His)
18g.53391840T>GCA402472166DCCc.2641T>G (p.Tyr881Asp)
c.2257-5468T>G
c.2572T>G (p.Tyr858Asp)
c.57T>G
c.1546T>G (p.Tyr516Asp)
c.1606T>G (p.Tyr536Asp)
c.2581T>G (p.Tyr861Asp)
18g.53391841delCA2641857525DCCc.2642del (p.Tyr881SerfsTer23)
c.2257-5467del
c.2573del (p.Tyr858SerfsTer23)
c.58del
c.1547del (p.Tyr516SerfsTer23)
c.1607del (p.Tyr536SerfsTer23)
c.2582del (p.Tyr861SerfsTer23)
 gnomAD v4
18g.53391841A>CCA402472169DCCc.2642A>C (p.Tyr881Ser)
c.2257-5467A>C
c.2573A>C (p.Tyr858Ser)
c.58A>C
c.1547A>C (p.Tyr516Ser)
c.1607A>C (p.Tyr536Ser)
c.2582A>C (p.Tyr861Ser)
18g.53391841A>GCA402472168DCCc.2642A>G (p.Tyr881Cys)
c.2257-5467A>G
c.2573A>G (p.Tyr858Cys)
c.58A>G
c.1547A>G (p.Tyr516Cys)
c.1607A>G (p.Tyr536Cys)
c.2582A>G (p.Tyr861Cys)
18g.53391841A>TCA402472167DCCc.2642A>T (p.Tyr881Phe)
c.2257-5467A>T
c.2573A>T (p.Tyr858Phe)
c.58A>T
c.1547A>T (p.Tyr516Phe)
c.1607A>T (p.Tyr536Phe)
c.2582A>T (p.Tyr861Phe)
18g.53391842C>ACA402472170DCCc.2643C>A (p.Tyr881Ter)
c.2257-5466C>A
c.2574C>A (p.Tyr858Ter)
c.59C>A
c.1548C>A (p.Tyr516Ter)
c.1608C>A (p.Tyr536Ter)
c.2583C>A (p.Tyr861Ter)
18g.53391842C>GCA402472171DCCc.2643C>G (p.Tyr881Ter)
c.2257-5466C>G
c.2574C>G (p.Tyr858Ter)
c.59C>G
c.1548C>G (p.Tyr516Ter)
c.1608C>G (p.Tyr536Ter)
c.2583C>G (p.Tyr861Ter)
18g.53391842C>TCA503876040DCCc.2643C>T (p.Tyr881=)
c.2257-5466C>T
c.2574C>T (p.Tyr858=)
c.59C>T
c.1548C>T (p.Tyr516=)
c.1608C>T (p.Tyr536=)
c.2583C>T (p.Tyr861=)
18g.53391843A>CCA402472172DCCc.2644A>C (p.Thr882Pro)
c.2257-5465A>C
c.2575A>C (p.Thr859Pro)
c.60A>C
c.1549A>C (p.Thr517Pro)
c.1609A>C (p.Thr537Pro)
c.2584A>C (p.Thr862Pro)
18g.53391843A>GCA402472173DCCc.2644A>G (p.Thr882Ala)
c.2257-5465A>G
c.2575A>G (p.Thr859Ala)
c.60A>G
c.1549A>G (p.Thr517Ala)
c.1609A>G (p.Thr537Ala)
c.2584A>G (p.Thr862Ala)
18g.53391843A>TCA402472174DCCc.2644A>T (p.Thr882Ser)
c.2257-5465A>T
c.2575A>T (p.Thr859Ser)
c.60A>T
c.1549A>T (p.Thr517Ser)
c.1609A>T (p.Thr537Ser)
c.2584A>T (p.Thr862Ser)
18g.53391844C>ACA402472175DCCc.2645C>A (p.Thr882Asn)
c.2257-5464C>A
c.2576C>A (p.Thr859Asn)
c.61C>A
c.1550C>A (p.Thr517Asn)
c.1610C>A (p.Thr537Asn)
c.2585C>A (p.Thr862Asn)
 gnomAD v4
18g.53391844C=CA2304132195DCCc.2645C= (p.Thr882=)
c.2257-5464C=
c.2576C= (p.Thr859=)
c.61C=
c.1550C= (p.Thr517=)
c.1610C= (p.Thr537=)
c.2585C= (p.Thr862=)
18g.53391844C>GCA402472176DCCc.2645C>G (p.Thr882Ser)
c.2257-5464C>G
c.2576C>G (p.Thr859Ser)
c.61C>G
c.1550C>G (p.Thr517Ser)
c.1610C>G (p.Thr537Ser)
c.2585C>G (p.Thr862Ser)
 gnomAD v4
18g.53391844C>TCA402472177DCCc.2645C>T (p.Thr882Ile)
c.2257-5464C>T
c.2576C>T (p.Thr859Ile)
c.61C>T
c.1550C>T (p.Thr517Ile)
c.1610C>T (p.Thr537Ile)
c.2585C>T (p.Thr862Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391845delCA2576506865DCCc.2646del (p.Val883SerfsTer21)
c.2257-5463del
c.2577del (p.Val860SerfsTer21)
c.62del
c.1551del (p.Val518SerfsTer21)
c.1611del (p.Val538SerfsTer21)
c.2586del (p.Val863SerfsTer21)
18g.53391845C>ACA503876053DCCc.2646C>A (p.Thr882=)
c.2257-5463C>A
c.2577C>A (p.Thr859=)
c.62C>A
c.1551C>A (p.Thr517=)
c.1611C>A (p.Thr537=)
c.2586C>A (p.Thr862=)
18g.53391845C=CA2304132196DCCc.2646C= (p.Thr882=)
c.2257-5463C=
c.2577C= (p.Thr859=)
c.62C=
c.1551C= (p.Thr517=)
c.1611C= (p.Thr537=)
c.2586C= (p.Thr862=)
18g.53391845C>GCA503876055DCCc.2646C>G (p.Thr882=)
c.2257-5463C>G
c.2577C>G (p.Thr859=)
c.62C>G
c.1551C>G (p.Thr517=)
c.1611C>G (p.Thr537=)
c.2586C>G (p.Thr862=)
18g.53391845C>TCA300693017DCCc.2646C>T (p.Thr882=)
c.2257-5463C>T
c.2577C>T (p.Thr859=)
c.62C>T
c.1551C>T (p.Thr517=)
c.1611C>T (p.Thr537=)
c.2586C>T (p.Thr862=)
 dbSNP gnomAD v2 gnomAD v4
18g.53391846G>ACA8967239DCCc.2647G>A (p.Val883Ile)
c.2257-5462G>A
c.2578G>A (p.Val860Ile)
c.63G>A
c.1552G>A (p.Val518Ile)
c.1612G>A (p.Val538Ile)
c.2587G>A (p.Val863Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391846G>CCA402472178DCCc.2647G>C (p.Val883Leu)
c.2257-5462G>C
c.2578G>C (p.Val860Leu)
c.63G>C
c.1552G>C (p.Val518Leu)
c.1612G>C (p.Val538Leu)
c.2587G>C (p.Val863Leu)
18g.53391846G=CA2304132197DCCc.2647G= (p.Val883=)
c.2257-5462G=
c.2578G= (p.Val860=)
c.63G=
c.1552G= (p.Val518=)
c.1612G= (p.Val538=)
c.2587G= (p.Val863=)
18g.53391846G>TCA402472179DCCc.2647G>T (p.Val883Phe)
c.2257-5462G>T
c.2578G>T (p.Val860Phe)
c.63G>T
c.1552G>T (p.Val518Phe)
c.1612G>T (p.Val538Phe)
c.2587G>T (p.Val863Phe)
 gnomAD v4
18g.53391847T>ACA402472180DCCc.2648T>A (p.Val883Asp)
c.2257-5461T>A
c.2579T>A (p.Val860Asp)
c.64T>A
c.1553T>A (p.Val518Asp)
c.1613T>A (p.Val538Asp)
c.2588T>A (p.Val863Asp)
18g.53391847T>CCA402472181DCCc.2648T>C (p.Val883Ala)
c.2257-5461T>C
c.2579T>C (p.Val860Ala)
c.64T>C
c.1553T>C (p.Val518Ala)
c.1613T>C (p.Val538Ala)
c.2588T>C (p.Val863Ala)
18g.53391847T>GCA402472182DCCc.2648T>G (p.Val883Gly)
c.2257-5461T>G
c.2579T>G (p.Val860Gly)
c.64T>G
c.1553T>G (p.Val518Gly)
c.1613T>G (p.Val538Gly)
c.2588T>G (p.Val863Gly)
18g.53391848C>ACA503876069DCCc.2649C>A (p.Val883=)
c.2257-5460C>A
c.2580C>A (p.Val860=)
c.65C>A
c.1554C>A (p.Val518=)
c.1614C>A (p.Val538=)
c.2589C>A (p.Val863=)
18g.53391848C>GCA503876067DCCc.2649C>G (p.Val883=)
c.2257-5460C>G
c.2580C>G (p.Val860=)
c.65C>G
c.1554C>G (p.Val518=)
c.1614C>G (p.Val538=)
c.2589C>G (p.Val863=)
 gnomAD v4
18g.53391848C>TCA503876065DCCc.2649C>T (p.Val883=)
c.2257-5460C>T
c.2580C>T (p.Val860=)
c.65C>T
c.1554C>T (p.Val518=)
c.1614C>T (p.Val538=)
c.2589C>T (p.Val863=)
18g.53391849C>ACA503876071DCCc.2650C>A (p.Arg884=)
c.2257-5459C>A
c.2581C>A (p.Arg861=)
c.66C>A
c.1555C>A (p.Arg519=)
c.1615C>A (p.Arg539=)
c.2590C>A (p.Arg864=)
 gnomAD v4
18g.53391849C=CA2304132198DCCc.2650C= (p.Arg884=)
c.2257-5459C=
c.2581C= (p.Arg861=)
c.66C=
c.1555C= (p.Arg519=)
c.1615C= (p.Arg539=)
c.2590C= (p.Arg864=)
18g.53391849C>GCA402472183DCCc.2650C>G (p.Arg884Gly)
c.2257-5459C>G
c.2581C>G (p.Arg861Gly)
c.66C>G
c.1555C>G (p.Arg519Gly)
c.1615C>G (p.Arg539Gly)
c.2590C>G (p.Arg864Gly)
18g.53391849C>TCA8967240DCCc.2650C>T (p.Arg884Trp)
c.2257-5459C>T
c.2581C>T (p.Arg861Trp)
c.66C>T
c.1555C>T (p.Arg519Trp)
c.1615C>T (p.Arg539Trp)
c.2590C>T (p.Arg864Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391850G>ACA8967241DCCc.2651G>A (p.Arg884Gln)
c.2257-5458G>A
c.2582G>A (p.Arg861Gln)
c.67G>A
c.1556G>A (p.Arg519Gln)
c.1616G>A (p.Arg539Gln)
c.2591G>A (p.Arg864Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391850G>CCA402472184DCCc.2651G>C (p.Arg884Pro)
c.2257-5458G>C
c.2582G>C (p.Arg861Pro)
c.67G>C
c.1556G>C (p.Arg519Pro)
c.1616G>C (p.Arg539Pro)
c.2591G>C (p.Arg864Pro)
18g.53391850G=CA2304132199DCCc.2651G= (p.Arg884=)
c.2257-5458G=
c.2582G= (p.Arg861=)
c.67G=
c.1556G= (p.Arg519=)
c.1616G= (p.Arg539=)
c.2591G= (p.Arg864=)
18g.53391850G>TCA402472185DCCc.2651G>T (p.Arg884Leu)
c.2257-5458G>T
c.2582G>T (p.Arg861Leu)
c.67G>T
c.1556G>T (p.Arg519Leu)
c.1616G>T (p.Arg539Leu)
c.2591G>T (p.Arg864Leu)
18g.53391851G>ACA300693027DCCc.2652G>A (p.Arg884=)
c.2257-5457G>A
c.2583G>A (p.Arg861=)
c.68G>A
c.1557G>A (p.Arg519=)
c.1617G>A (p.Arg539=)
c.2592G>A (p.Arg864=)
 dbSNP gnomAD v3 gnomAD v4
18g.53391851G>CCA503876080DCCc.2652G>C (p.Arg884=)
c.2257-5457G>C
c.2583G>C (p.Arg861=)
c.68G>C
c.1557G>C (p.Arg519=)
c.1617G>C (p.Arg539=)
c.2592G>C (p.Arg864=)
18g.53391851G=CA2304132200DCCc.2652G= (p.Arg884=)
c.2257-5457G=
c.2583G= (p.Arg861=)
c.68G=
c.1557G= (p.Arg519=)
c.1617G= (p.Arg539=)
c.2592G= (p.Arg864=)
18g.53391851G>TCA503876082DCCc.2652G>T (p.Arg884=)
c.2257-5457G>T
c.2583G>T (p.Arg861=)
c.68G>T
c.1557G>T (p.Arg519=)
c.1617G>T (p.Arg539=)
c.2592G>T (p.Arg864=)
18g.53391852T>ACA402472186DCCc.2653T>A (p.Trp885Arg)
c.2257-5456T>A
c.2584T>A (p.Trp862Arg)
c.69T>A
c.1558T>A (p.Trp520Arg)
c.1618T>A (p.Trp540Arg)
c.2593T>A (p.Trp865Arg)
18g.53391852T>CCA402472187DCCc.2653T>C (p.Trp885Arg)
c.2257-5456T>C
c.2584T>C (p.Trp862Arg)
c.69T>C
c.1558T>C (p.Trp520Arg)
c.1618T>C (p.Trp540Arg)
c.2593T>C (p.Trp865Arg)
18g.53391852T>GCA402472188DCCc.2653T>G (p.Trp885Gly)
c.2257-5456T>G
c.2584T>G (p.Trp862Gly)
c.69T>G
c.1558T>G (p.Trp520Gly)
c.1618T>G (p.Trp540Gly)
c.2593T>G (p.Trp865Gly)
18g.53391853G>ACA300693034DCCc.2654G>A (p.Trp885Ter)
c.2257-5455G>A
c.2585G>A (p.Trp862Ter)
c.70G>A
c.1559G>A (p.Trp520Ter)
c.1619G>A (p.Trp540Ter)
c.2594G>A (p.Trp865Ter)
 dbSNP gnomAD v4 COSMIC
18g.53391853G>CCA402472189DCCc.2654G>C (p.Trp885Ser)
c.2257-5455G>C
c.2585G>C (p.Trp862Ser)
c.70G>C
c.1559G>C (p.Trp520Ser)
c.1619G>C (p.Trp540Ser)
c.2594G>C (p.Trp865Ser)
18g.53391853G=CA2304132201DCCc.2654G= (p.Trp885=)
c.2257-5455G=
c.2585G= (p.Trp862=)
c.70G=
c.1559G= (p.Trp520=)
c.1619G= (p.Trp540=)
c.2594G= (p.Trp865=)
18g.53391853G>TCA402472190DCCc.2654G>T (p.Trp885Leu)
c.2257-5455G>T
c.2585G>T (p.Trp862Leu)
c.70G>T
c.1559G>T (p.Trp520Leu)
c.1619G>T (p.Trp540Leu)
c.2594G>T (p.Trp865Leu)
 gnomAD v4
18g.53391854G>ACA402472191DCCc.2655G>A (p.Trp885Ter)
c.2257-5454G>A
c.2586G>A (p.Trp862Ter)
c.71G>A
c.1560G>A (p.Trp520Ter)
c.1620G>A (p.Trp540Ter)
c.2595G>A (p.Trp865Ter)
 COSMIC
18g.53391854G>CCA402472192DCCc.2655G>C (p.Trp885Cys)
c.2257-5454G>C
c.2586G>C (p.Trp862Cys)
c.71G>C
c.1560G>C (p.Trp520Cys)
c.1620G>C (p.Trp540Cys)
c.2595G>C (p.Trp865Cys)
18g.53391854G>TCA402472193DCCc.2655G>T (p.Trp885Cys)
c.2257-5454G>T
c.2586G>T (p.Trp862Cys)
c.71G>T
c.1560G>T (p.Trp520Cys)
c.1620G>T (p.Trp540Cys)
c.2595G>T (p.Trp865Cys)
18g.53391855A>CCA503876095DCCc.2656A>C (p.Arg886=)
c.2257-5453A>C
c.2587A>C (p.Arg863=)
c.72A>C
c.1561A>C (p.Arg521=)
c.1621A>C (p.Arg541=)
c.2596A>C (p.Arg866=)
18g.53391855A>GCA402472194DCCc.2656A>G (p.Arg886Gly)
c.2257-5453A>G
c.2587A>G (p.Arg863Gly)
c.72A>G
c.1561A>G (p.Arg521Gly)
c.1621A>G (p.Arg541Gly)
c.2596A>G (p.Arg866Gly)
18g.53391855A>TCA402472195DCCc.2656A>T (p.Arg886Ter)
c.2257-5453A>T
c.2587A>T (p.Arg863Ter)
c.72A>T
c.1561A>T (p.Arg521Ter)
c.1621A>T (p.Arg541Ter)
c.2596A>T (p.Arg866Ter)
18g.53391856G>ACA402472196DCCc.2657G>A (p.Arg886Lys)
c.2257-5452G>A
c.2588G>A (p.Arg863Lys)
c.73G>A
c.1562G>A (p.Arg521Lys)
c.1622G>A (p.Arg541Lys)
c.2597G>A (p.Arg866Lys)
 COSMIC COSMIC
18g.53391856G>CCA402472197DCCc.2657G>C (p.Arg886Thr)
c.2257-5452G>C
c.2588G>C (p.Arg863Thr)
c.73G>C
c.1562G>C (p.Arg521Thr)
c.1622G>C (p.Arg541Thr)
c.2597G>C (p.Arg866Thr)
18g.53391856G=CA2304132202DCCc.2657G= (p.Arg886=)
c.2257-5452G=
c.2588G= (p.Arg863=)
c.73G=
c.1562G= (p.Arg521=)
c.1622G= (p.Arg541=)
c.2597G= (p.Arg866=)
18g.53391856G>TCA8967242DCCc.2657G>T (p.Arg886Ile)
c.2257-5452G>T
c.2588G>T (p.Arg863Ile)
c.73G>T
c.1562G>T (p.Arg521Ile)
c.1622G>T (p.Arg541Ile)
c.2597G>T (p.Arg866Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391857A>CCA402472198DCCc.2658A>C (p.Arg886Ser)
c.2257-5451A>C
c.2589A>C (p.Arg863Ser)
c.74A>C
c.1563A>C (p.Arg521Ser)
c.1623A>C (p.Arg541Ser)
c.2598A>C (p.Arg866Ser)
18g.53391857A>GCA503876104DCCc.2658A>G (p.Arg886=)
c.2257-5451A>G
c.2589A>G (p.Arg863=)
c.74A>G
c.1563A>G (p.Arg521=)
c.1623A>G (p.Arg541=)
c.2598A>G (p.Arg866=)
18g.53391857A>TCA402472199DCCc.2658A>T (p.Arg886Ser)
c.2257-5451A>T
c.2589A>T (p.Arg863Ser)
c.74A>T
c.1563A>T (p.Arg521Ser)
c.1623A>T (p.Arg541Ser)
c.2598A>T (p.Arg866Ser)
18g.53391858A>CCA402472200DCCc.2659A>C (p.Thr887Pro)
c.2257-5450A>C
c.2590A>C (p.Thr864Pro)
c.75A>C
c.1564A>C (p.Thr522Pro)
c.1624A>C (p.Thr542Pro)
c.2599A>C (p.Thr867Pro)
18g.53391858A>GCA402472202DCCc.2659A>G (p.Thr887Ala)
c.2257-5450A>G
c.2590A>G (p.Thr864Ala)
c.75A>G
c.1564A>G (p.Thr522Ala)
c.1624A>G (p.Thr542Ala)
c.2599A>G (p.Thr867Ala)
 gnomAD v4
18g.53391858A>TCA402472201DCCc.2659A>T (p.Thr887Ser)
c.2257-5450A>T
c.2590A>T (p.Thr864Ser)
c.75A>T
c.1564A>T (p.Thr522Ser)
c.1624A>T (p.Thr542Ser)
c.2599A>T (p.Thr867Ser)
18g.53391859C>ACA402472203DCCc.2660C>A (p.Thr887Asn)
c.2257-5449C>A
c.2591C>A (p.Thr864Asn)
c.76C>A
c.1565C>A (p.Thr522Asn)
c.1625C>A (p.Thr542Asn)
c.2600C>A (p.Thr867Asn)
18g.53391859C=CA2304132203DCCc.2660C= (p.Thr887=)
c.2257-5449C=
c.2591C= (p.Thr864=)
c.76C=
c.1565C= (p.Thr522=)
c.1625C= (p.Thr542=)
c.2600C= (p.Thr867=)
18g.53391859C>GCA402472204DCCc.2660C>G (p.Thr887Ser)
c.2257-5449C>G
c.2591C>G (p.Thr864Ser)
c.76C>G
c.1565C>G (p.Thr522Ser)
c.1625C>G (p.Thr542Ser)
c.2600C>G (p.Thr867Ser)
18g.53391859C>TCA8967243DCCc.2660C>T (p.Thr887Ile)
c.2257-5449C>T
c.2591C>T (p.Thr864Ile)
c.76C>T
c.1565C>T (p.Thr522Ile)
c.1625C>T (p.Thr542Ile)
c.2600C>T (p.Thr867Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391860C>ACA503876115DCCc.2661C>A (p.Thr887=)
c.2257-5448C>A
c.2592C>A (p.Thr864=)
c.77C>A
c.1566C>A (p.Thr522=)
c.1626C>A (p.Thr542=)
c.2601C>A (p.Thr867=)
18g.53391860C>GCA503876116DCCc.2661C>G (p.Thr887=)
c.2257-5448C>G
c.2592C>G (p.Thr864=)
c.77C>G
c.1566C>G (p.Thr522=)
c.1626C>G (p.Thr542=)
c.2601C>G (p.Thr867=)
18g.53391860C>TCA503876118DCCc.2661C>T (p.Thr887=)
c.2257-5448C>T
c.2592C>T (p.Thr864=)
c.77C>T
c.1566C>T (p.Thr522=)
c.1626C>T (p.Thr542=)
c.2601C>T (p.Thr867=)
18g.53391861A>CCA402472205DCCc.2662A>C (p.Ser888Arg)
c.2257-5447A>C
c.2593A>C (p.Ser865Arg)
c.78A>C
c.1567A>C (p.Ser523Arg)
c.1627A>C (p.Ser543Arg)
c.2602A>C (p.Ser868Arg)
18g.53391861A>GCA402472206DCCc.2662A>G (p.Ser888Gly)
c.2257-5447A>G
c.2593A>G (p.Ser865Gly)
c.78A>G
c.1567A>G (p.Ser523Gly)
c.1627A>G (p.Ser543Gly)
c.2602A>G (p.Ser868Gly)
18g.53391861A>TCA402472207DCCc.2662A>T (p.Ser888Cys)
c.2257-5447A>T
c.2593A>T (p.Ser865Cys)
c.78A>T
c.1567A>T (p.Ser523Cys)
c.1627A>T (p.Ser543Cys)
c.2602A>T (p.Ser868Cys)
18g.53391862G>ACA8967245DCCc.2663G>A (p.Ser888Asn)
c.2257-5446G>A
c.2594G>A (p.Ser865Asn)
c.79G>A
c.1568G>A (p.Ser523Asn)
c.1628G>A (p.Ser543Asn)
c.2603G>A (p.Ser868Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391862G>CCA8967244DCCc.2663G>C (p.Ser888Thr)
c.2257-5446G>C
c.2594G>C (p.Ser865Thr)
c.79G>C
c.1568G>C (p.Ser523Thr)
c.1628G>C (p.Ser543Thr)
c.2603G>C (p.Ser868Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391862G=CA2304132204DCCc.2663G= (p.Ser888=)
c.2257-5446G=
c.2594G= (p.Ser865=)
c.79G=
c.1568G= (p.Ser523=)
c.1628G= (p.Ser543=)
c.2603G= (p.Ser868=)
18g.53391862G>TCA402472208DCCc.2663G>T (p.Ser888Ile)
c.2257-5446G>T
c.2594G>T (p.Ser865Ile)
c.79G>T
c.1568G>T (p.Ser523Ile)
c.1628G>T (p.Ser543Ile)
c.2603G>T (p.Ser868Ile)
18g.53391863C>ACA402472209DCCc.2664C>A (p.Ser888Arg)
c.2257-5445C>A
c.2595C>A (p.Ser865Arg)
c.80C>A
c.1569C>A (p.Ser523Arg)
c.1629C>A (p.Ser543Arg)
c.2604C>A (p.Ser868Arg)
 gnomAD v4
18g.53391863C>GCA402472210DCCc.2664C>G (p.Ser888Arg)
c.2257-5445C>G
c.2595C>G (p.Ser865Arg)
c.80C>G
c.1569C>G (p.Ser523Arg)
c.1629C>G (p.Ser543Arg)
c.2604C>G (p.Ser868Arg)
18g.53391863C>TCA503876129DCCc.2664C>T (p.Ser888=)
c.2257-5445C>T
c.2595C>T (p.Ser865=)
c.80C>T
c.1569C>T (p.Ser523=)
c.1629C>T (p.Ser543=)
c.2604C>T (p.Ser868=)
 COSMIC
18g.53391864T>ACA402472211DCCc.2665T>A (p.Phe889Ile)
c.2257-5444T>A
c.2596T>A (p.Phe866Ile)
c.81T>A
c.1570T>A (p.Phe524Ile)
c.1630T>A (p.Phe544Ile)
c.2605T>A (p.Phe869Ile)
18g.53391864T>CCA402472212DCCc.2665T>C (p.Phe889Leu)
c.2257-5444T>C
c.2596T>C (p.Phe866Leu)
c.81T>C
c.1570T>C (p.Phe524Leu)
c.1630T>C (p.Phe544Leu)
c.2605T>C (p.Phe869Leu)
18g.53391864T>GCA402472213DCCc.2665T>G (p.Phe889Val)
c.2257-5444T>G
c.2596T>G (p.Phe866Val)
c.81T>G
c.1570T>G (p.Phe524Val)
c.1630T>G (p.Phe544Val)
c.2605T>G (p.Phe869Val)
18g.53391865T>ACA402472216DCCc.2666T>A (p.Phe889Tyr)
c.2257-5443T>A
c.2597T>A (p.Phe866Tyr)
c.82T>A
c.1571T>A (p.Phe524Tyr)
c.1631T>A (p.Phe544Tyr)
c.2606T>A (p.Phe869Tyr)
18g.53391865T>CCA402472215DCCc.2666T>C (p.Phe889Ser)
c.2257-5443T>C
c.2597T>C (p.Phe866Ser)
c.82T>C
c.1571T>C (p.Phe524Ser)
c.1631T>C (p.Phe544Ser)
c.2606T>C (p.Phe869Ser)
18g.53391865T>GCA402472214DCCc.2666T>G (p.Phe889Cys)
c.2257-5443T>G
c.2597T>G (p.Phe866Cys)
c.82T>G
c.1571T>G (p.Phe524Cys)
c.1631T>G (p.Phe544Cys)
c.2606T>G (p.Phe869Cys)
18g.53391866T>ACA402472217DCCc.2667T>A (p.Phe889Leu)
c.2257-5442T>A
c.2598T>A (p.Phe866Leu)
c.83T>A
c.1572T>A (p.Phe524Leu)
c.1632T>A (p.Phe544Leu)
c.2607T>A (p.Phe869Leu)
18g.53391866T>CCA503876139DCCc.2667T>C (p.Phe889=)
c.2257-5442T>C
c.2598T>C (p.Phe866=)
c.83T>C
c.1572T>C (p.Phe524=)
c.1632T>C (p.Phe544=)
c.2607T>C (p.Phe869=)
18g.53391866T>GCA402472218DCCc.2667T>G (p.Phe889Leu)
c.2257-5442T>G
c.2598T>G (p.Phe866Leu)
c.83T>G
c.1572T>G (p.Phe524Leu)
c.1632T>G (p.Phe544Leu)
c.2607T>G (p.Phe869Leu)
18g.53391867T>ACA402472219DCCc.2668T>A (p.Ser890Thr)
c.2257-5441T>A
c.2599T>A (p.Ser867Thr)
c.84T>A
c.1573T>A (p.Ser525Thr)
c.1633T>A (p.Ser545Thr)
c.2608T>A (p.Ser870Thr)
18g.53391867T>CCA402472220DCCc.2668T>C (p.Ser890Pro)
c.2257-5441T>C
c.2599T>C (p.Ser867Pro)
c.84T>C
c.1573T>C (p.Ser525Pro)
c.1633T>C (p.Ser545Pro)
c.2608T>C (p.Ser870Pro)
18g.53391867T>GCA402472221DCCc.2668T>G (p.Ser890Ala)
c.2257-5441T>G
c.2599T>G (p.Ser867Ala)
c.84T>G
c.1573T>G (p.Ser525Ala)
c.1633T>G (p.Ser545Ala)
c.2608T>G (p.Ser870Ala)
18g.53391868C>ACA402472222DCCc.2669C>A (p.Ser890Tyr)
c.2257-5440C>A
c.2600C>A (p.Ser867Tyr)
c.85C>A
c.1574C>A (p.Ser525Tyr)
c.1634C>A (p.Ser545Tyr)
c.2609C>A (p.Ser870Tyr)
18g.53391868C>GCA402472223DCCc.2669C>G (p.Ser890Cys)
c.2257-5440C>G
c.2600C>G (p.Ser867Cys)
c.85C>G
c.1574C>G (p.Ser525Cys)
c.1634C>G (p.Ser545Cys)
c.2609C>G (p.Ser870Cys)
18g.53391868C>TCA402472224DCCc.2669C>T (p.Ser890Phe)
c.2257-5440C>T
c.2600C>T (p.Ser867Phe)
c.85C>T
c.1574C>T (p.Ser525Phe)
c.1634C>T (p.Ser545Phe)
c.2609C>T (p.Ser870Phe)
 gnomAD v4
18g.53391869T>ACA503876149DCCc.2670T>A (p.Ser890=)
c.2257-5439T>A
c.2601T>A (p.Ser867=)
c.86T>A
c.1575T>A (p.Ser525=)
c.1635T>A (p.Ser545=)
c.2610T>A (p.Ser870=)
18g.53391869T>CCA503876153DCCc.2670T>C (p.Ser890=)
c.2257-5439T>C
c.2601T>C (p.Ser867=)
c.86T>C
c.1575T>C (p.Ser525=)
c.1635T>C (p.Ser545=)
c.2610T>C (p.Ser870=)
18g.53391869T>GCA503876151DCCc.2670T>G (p.Ser890=)
c.2257-5439T>G
c.2601T>G (p.Ser867=)
c.86T>G
c.1575T>G (p.Ser525=)
c.1635T>G (p.Ser545=)
c.2610T>G (p.Ser870=)
18g.53391870G>ACA402472225DCCc.2671G>A (p.Ala891Thr)
c.2257-5438G>A
c.2602G>A (p.Ala868Thr)
c.87G>A
c.1576G>A (p.Ala526Thr)
c.1636G>A (p.Ala546Thr)
c.2611G>A (p.Ala871Thr)
18g.53391870G>CCA402472226DCCc.2671G>C (p.Ala891Pro)
c.2257-5438G>C
c.2602G>C (p.Ala868Pro)
c.87G>C
c.1576G>C (p.Ala526Pro)
c.1636G>C (p.Ala546Pro)
c.2611G>C (p.Ala871Pro)
18g.53391870G>TCA402472227DCCc.2671G>T (p.Ala891Ser)
c.2257-5438G>T
c.2602G>T (p.Ala868Ser)
c.87G>T
c.1576G>T (p.Ala526Ser)
c.1636G>T (p.Ala546Ser)
c.2611G>T (p.Ala871Ser)
 gnomAD v4
18g.53391871C>ACA402472230DCCc.2672C>A (p.Ala891Glu)
c.2257-5437C>A
c.2603C>A (p.Ala868Glu)
c.88C>A
c.1577C>A (p.Ala526Glu)
c.1637C>A (p.Ala546Glu)
c.2612C>A (p.Ala871Glu)
 gnomAD v4
18g.53391871C>GCA402472229DCCc.2672C>G (p.Ala891Gly)
c.2257-5437C>G
c.2603C>G (p.Ala868Gly)
c.88C>G
c.1577C>G (p.Ala526Gly)
c.1637C>G (p.Ala546Gly)
c.2612C>G (p.Ala871Gly)
18g.53391871C>TCA402472228DCCc.2672C>T (p.Ala891Val)
c.2257-5437C>T
c.2603C>T (p.Ala868Val)
c.88C>T
c.1577C>T (p.Ala526Val)
c.1637C>T (p.Ala546Val)
c.2612C>T (p.Ala871Val)
 gnomAD v4
18g.53391872A>CCA503876162DCCc.2673A>C (p.Ala891=)
c.2257-5436A>C
c.2604A>C (p.Ala868=)
c.89A>C
c.1578A>C (p.Ala526=)
c.1638A>C (p.Ala546=)
c.2613A>C (p.Ala871=)
18g.53391872A>GCA503876163DCCc.2673A>G (p.Ala891=)
c.2257-5436A>G
c.2604A>G (p.Ala868=)
c.89A>G
c.1578A>G (p.Ala526=)
c.1638A>G (p.Ala546=)
c.2613A>G (p.Ala871=)
18g.53391872A>TCA503876165DCCc.2673A>T (p.Ala891=)
c.2257-5436A>T
c.2604A>T (p.Ala868=)
c.89A>T
c.1578A>T (p.Ala526=)
c.1638A>T (p.Ala546=)
c.2613A>T (p.Ala871=)
18g.53391873A>CCA402472231DCCc.2674A>C (p.Ser892Arg)
c.2257-5435A>C
c.2605A>C (p.Ser869Arg)
c.90A>C
c.1579A>C (p.Ser527Arg)
c.1639A>C (p.Ser547Arg)
c.2614A>C (p.Ser872Arg)
18g.53391873A>GCA402472232DCCc.2674A>G (p.Ser892Gly)
c.2257-5435A>G
c.2605A>G (p.Ser869Gly)
c.90A>G
c.1579A>G (p.Ser527Gly)
c.1639A>G (p.Ser547Gly)
c.2614A>G (p.Ser872Gly)
18g.53391873A>TCA402472233DCCc.2674A>T (p.Ser892Cys)
c.2257-5435A>T
c.2605A>T (p.Ser869Cys)
c.90A>T
c.1579A>T (p.Ser527Cys)
c.1639A>T (p.Ser547Cys)
c.2614A>T (p.Ser872Cys)
18g.53391874G>ACA402472234DCCc.2675G>A (p.Ser892Asn)
c.2257-5434G>A
c.2606G>A (p.Ser869Asn)
c.91G>A
c.1580G>A (p.Ser527Asn)
c.1640G>A (p.Ser547Asn)
c.2615G>A (p.Ser872Asn)
 gnomAD v4
18g.53391874G>CCA402472235DCCc.2675G>C (p.Ser892Thr)
c.2257-5434G>C
c.2606G>C (p.Ser869Thr)
c.91G>C
c.1580G>C (p.Ser527Thr)
c.1640G>C (p.Ser547Thr)
c.2615G>C (p.Ser872Thr)
18g.53391874G>TCA402472236DCCc.2675G>T (p.Ser892Ile)
c.2257-5434G>T
c.2606G>T (p.Ser869Ile)
c.91G>T
c.1580G>T (p.Ser527Ile)
c.1640G>T (p.Ser547Ile)
c.2615G>T (p.Ser872Ile)
18g.53391875T>ACA402472237DCCc.2676T>A (p.Ser892Arg)
c.2257-5433T>A
c.2607T>A (p.Ser869Arg)
c.92T>A
c.1581T>A (p.Ser527Arg)
c.1641T>A (p.Ser547Arg)
c.2616T>A (p.Ser872Arg)
18g.53391875T>CCA503876175DCCc.2676T>C (p.Ser892=)
c.2257-5433T>C
c.2607T>C (p.Ser869=)
c.92T>C
c.1581T>C (p.Ser527=)
c.1641T>C (p.Ser547=)
c.2616T>C (p.Ser872=)
18g.53391875T>GCA402472238DCCc.2676T>G (p.Ser892Arg)
c.2257-5433T>G
c.2607T>G (p.Ser869Arg)
c.92T>G
c.1581T>G (p.Ser527Arg)
c.1641T>G (p.Ser547Arg)
c.2616T>G (p.Ser872Arg)
 ClinVar gnomAD v4
18g.53391876G>ACA16044036DCCc.2677G>A (p.Ala893Thr)
c.2257-5432G>A
c.2608G>A (p.Ala870Thr)
c.93G>A
c.1582G>A (p.Ala528Thr)
c.1642G>A (p.Ala548Thr)
c.2617G>A (p.Ala873Thr)
 ClinVar dbSNP gnomAD v4
18g.53391876G>CCA402472239DCCc.2677G>C (p.Ala893Pro)
c.2257-5432G>C
c.2608G>C (p.Ala870Pro)
c.93G>C
c.1582G>C (p.Ala528Pro)
c.1642G>C (p.Ala548Pro)
c.2617G>C (p.Ala873Pro)
18g.53391876G=CA2304132205DCCc.2677G= (p.Ala893=)
c.2257-5432G=
c.2608G= (p.Ala870=)
c.93G=
c.1582G= (p.Ala528=)
c.1642G= (p.Ala548=)
c.2617G= (p.Ala873=)
18g.53391876G>TCA402472240DCCc.2677G>T (p.Ala893Ser)
c.2257-5432G>T
c.2608G>T (p.Ala870Ser)
c.93G>T
c.1582G>T (p.Ala528Ser)
c.1642G>T (p.Ala548Ser)
c.2617G>T (p.Ala873Ser)
18g.53391877C>ACA402472243DCCc.2678C>A (p.Ala893Glu)
c.2257-5431C>A
c.2609C>A (p.Ala870Glu)
c.94C>A
c.1583C>A (p.Ala528Glu)
c.1643C>A (p.Ala548Glu)
c.2618C>A (p.Ala873Glu)
 dbSNP gnomAD v4
18g.53391877C>GCA402472242DCCc.2678C>G (p.Ala893Gly)
c.2257-5431C>G
c.2609C>G (p.Ala870Gly)
c.94C>G
c.1583C>G (p.Ala528Gly)
c.1643C>G (p.Ala548Gly)
c.2618C>G (p.Ala873Gly)
 gnomAD v4
18g.53391877C>TCA402472241DCCc.2678C>T (p.Ala893Val)
c.2257-5431C>T
c.2609C>T (p.Ala870Val)
c.94C>T
c.1583C>T (p.Ala528Val)
c.1643C>T (p.Ala548Val)
c.2618C>T (p.Ala873Val)
 gnomAD v4
18g.53391878A=CA2304132206DCCc.2679A= (p.Ala893=)
c.2257-5430A=
c.2610A= (p.Ala870=)
c.95A=
c.1584A= (p.Ala528=)
c.1644A= (p.Ala548=)
c.2619A= (p.Ala873=)
18g.53391878A>CCA503876184DCCc.2679A>C (p.Ala893=)
c.2257-5430A>C
c.2610A>C (p.Ala870=)
c.95A>C
c.1584A>C (p.Ala528=)
c.1644A>C (p.Ala548=)
c.2619A>C (p.Ala873=)
18g.53391878A>GCA8967246DCCc.2679A>G (p.Ala893=)
c.2257-5430A>G
c.2610A>G (p.Ala870=)
c.95A>G
c.1584A>G (p.Ala528=)
c.1644A>G (p.Ala548=)
c.2619A>G (p.Ala873=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391878A>TCA503876188DCCc.2679A>T (p.Ala893=)
c.2257-5430A>T
c.2610A>T (p.Ala870=)
c.95A>T
c.1584A>T (p.Ala528=)
c.1644A>T (p.Ala548=)
c.2619A>T (p.Ala873=)
18g.53391879A>CCA402472244DCCc.2680A>C (p.Lys894Gln)
c.2257-5429A>C
c.2611A>C (p.Lys871Gln)
c.96A>C
c.1585A>C (p.Lys529Gln)
c.1645A>C (p.Lys549Gln)
c.2620A>C (p.Lys874Gln)
18g.53391879A>GCA402472245DCCc.2680A>G (p.Lys894Glu)
c.2257-5429A>G
c.2611A>G (p.Lys871Glu)
c.96A>G
c.1585A>G (p.Lys529Glu)
c.1645A>G (p.Lys549Glu)
c.2620A>G (p.Lys874Glu)
 gnomAD v4
18g.53391879A>TCA402472246DCCc.2680A>T (p.Lys894Ter)
c.2257-5429A>T
c.2611A>T (p.Lys871Ter)
c.96A>T
c.1585A>T (p.Lys529Ter)
c.1645A>T (p.Lys549Ter)
c.2620A>T (p.Lys874Ter)
18g.53391880A>CCA402472247DCCc.2681A>C (p.Lys894Thr)
c.2257-5428A>C
c.2612A>C (p.Lys871Thr)
c.97A>C
c.1586A>C (p.Lys529Thr)
c.1646A>C (p.Lys549Thr)
c.2621A>C (p.Lys874Thr)
18g.53391880A>GCA402472248DCCc.2681A>G (p.Lys894Arg)
c.2257-5428A>G
c.2612A>G (p.Lys871Arg)
c.97A>G
c.1586A>G (p.Lys529Arg)
c.1646A>G (p.Lys549Arg)
c.2621A>G (p.Lys874Arg)
18g.53391880A>TCA402472249DCCc.2681A>T (p.Lys894Ile)
c.2257-5428A>T
c.2612A>T (p.Lys871Ile)
c.97A>T
c.1586A>T (p.Lys529Ile)
c.1646A>T (p.Lys549Ile)
c.2621A>T (p.Lys874Ile)
18g.53391881A>CCA402472250DCCc.2682A>C (p.Lys894Asn)
c.2257-5427A>C
c.2613A>C (p.Lys871Asn)
c.98A>C
c.1587A>C (p.Lys529Asn)
c.1647A>C (p.Lys549Asn)
c.2622A>C (p.Lys874Asn)
18g.53391881A>GCA503876198DCCc.2682A>G (p.Lys894=)
c.2257-5427A>G
c.2613A>G (p.Lys871=)
c.98A>G
c.1587A>G (p.Lys529=)
c.1647A>G (p.Lys549=)
c.2622A>G (p.Lys874=)
 gnomAD v4
18g.53391881A>TCA402472251DCCc.2682A>T (p.Lys894Asn)
c.2257-5427A>T
c.2613A>T (p.Lys871Asn)
c.98A>T
c.1587A>T (p.Lys529Asn)
c.1647A>T (p.Lys549Asn)
c.2622A>T (p.Lys874Asn)
18g.53391882T>ACA402472252DCCc.2683T>A (p.Tyr895Asn)
c.2257-5426T>A
c.2614T>A (p.Tyr872Asn)
c.99T>A
c.1588T>A (p.Tyr530Asn)
c.1648T>A (p.Tyr550Asn)
c.2623T>A (p.Tyr875Asn)
18g.53391882T>CCA402472253DCCc.2683T>C (p.Tyr895His)
c.2257-5426T>C
c.2614T>C (p.Tyr872His)
c.99T>C
c.1588T>C (p.Tyr530His)
c.1648T>C (p.Tyr550His)
c.2623T>C (p.Tyr875His)
18g.53391882T>GCA402472254DCCc.2683T>G (p.Tyr895Asp)
c.2257-5426T>G
c.2614T>G (p.Tyr872Asp)
c.99T>G
c.1588T>G (p.Tyr530Asp)
c.1648T>G (p.Tyr550Asp)
c.2623T>G (p.Tyr875Asp)

Number of alleles fetched