Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101761646T>ACA386296253GNPTABc.2833A>T (p.Lys945Ter)
c.2752A>T (p.Lys918Ter)
c.2617A>T (p.Lys873Ter)
c.1606A>T (p.Lys536Ter)
12g.101761646T>CCA386296254GNPTABc.2833A>G (p.Lys945Glu)
c.2752A>G (p.Lys918Glu)
c.2617A>G (p.Lys873Glu)
c.1606A>G (p.Lys536Glu)
 dbSNP gnomAD v3 gnomAD v4
12g.101761646T>GCA386296255GNPTABc.2833A>C (p.Lys945Gln)
c.2752A>C (p.Lys918Gln)
c.2617A>C (p.Lys873Gln)
c.1606A>C (p.Lys536Gln)
 gnomAD v4
12g.101761646T=CA2058953097GNPTABc.2833A= (p.Lys945=)
c.2752A= (p.Lys918=)
c.2617A= (p.Lys873=)
c.1606A= (p.Lys536=)
12g.101761647G>ACA481576756GNPTABc.2832C>T (p.Ser944=)
c.2751C>T (p.Ser917=)
c.2616C>T (p.Ser872=)
c.1605C>T (p.Ser535=)
12g.101761647G>CCA386296256GNPTABc.2832C>G (p.Ser944Arg)
c.2751C>G (p.Ser917Arg)
c.2616C>G (p.Ser872Arg)
c.1605C>G (p.Ser535Arg)
12g.101761647G>TCA386296257GNPTABc.2832C>A (p.Ser944Arg)
c.2751C>A (p.Ser917Arg)
c.2616C>A (p.Ser872Arg)
c.1605C>A (p.Ser535Arg)
12g.101761648C>ACA386296258GNPTABc.2831G>T (p.Ser944Ile)
c.2750G>T (p.Ser917Ile)
c.2615G>T (p.Ser872Ile)
c.1604G>T (p.Ser535Ile)
12g.101761648C=CA2058953100GNPTABc.2831G= (p.Ser944=)
c.2750G= (p.Ser917=)
c.2615G= (p.Ser872=)
c.1604G= (p.Ser535=)
12g.101761648C>GCA386296259GNPTABc.2831G>C (p.Ser944Thr)
c.2750G>C (p.Ser917Thr)
c.2615G>C (p.Ser872Thr)
c.1604G>C (p.Ser535Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761648C>TCA386296260GNPTABc.2831G>A (p.Ser944Asn)
c.2750G>A (p.Ser917Asn)
c.2615G>A (p.Ser872Asn)
c.1604G>A (p.Ser535Asn)
12g.101761649T>ACA386296261GNPTABc.2830A>T (p.Ser944Cys)
c.2749A>T (p.Ser917Cys)
c.2614A>T (p.Ser872Cys)
c.1603A>T (p.Ser535Cys)
12g.101761649T>CCA386296262GNPTABc.2830A>G (p.Ser944Gly)
c.2749A>G (p.Ser917Gly)
c.2614A>G (p.Ser872Gly)
c.1603A>G (p.Ser535Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.101761649T>GCA386296263GNPTABc.2830A>C (p.Ser944Arg)
c.2749A>C (p.Ser917Arg)
c.2614A>C (p.Ser872Arg)
c.1603A>C (p.Ser535Arg)
 ClinVar
12g.101761649T=CA2058953103GNPTABc.2830A= (p.Ser944=)
c.2749A= (p.Ser917=)
c.2614A= (p.Ser872=)
c.1603A= (p.Ser535=)
12g.101761650A=CA2058953105GNPTABc.2829T= (p.Asn943=)
c.2748T= (p.Asn916=)
c.2613T= (p.Asn871=)
c.1602T= (p.Asn534=)
12g.101761650A>CCA386296265GNPTABc.2829T>G (p.Asn943Lys)
c.2748T>G (p.Asn916Lys)
c.2613T>G (p.Asn871Lys)
c.1602T>G (p.Asn534Lys)
12g.101761650A>GCA242454331GNPTABc.2829T>C (p.Asn943=)
c.2748T>C (p.Asn916=)
c.2613T>C (p.Asn871=)
c.1602T>C (p.Asn534=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761650A>TCA386296264GNPTABc.2829T>A (p.Asn943Lys)
c.2748T>A (p.Asn916Lys)
c.2613T>A (p.Asn871Lys)
c.1602T>A (p.Asn534Lys)
 gnomAD v4
12g.101761651T>ACA386296266GNPTABc.2828A>T (p.Asn943Ile)
c.2747A>T (p.Asn916Ile)
c.2612A>T (p.Asn871Ile)
c.1601A>T (p.Asn534Ile)
12g.101761651T>CCA386296267GNPTABc.2828A>G (p.Asn943Ser)
c.2747A>G (p.Asn916Ser)
c.2612A>G (p.Asn871Ser)
c.1601A>G (p.Asn534Ser)
12g.101761651T>GCA386296268GNPTABc.2828A>C (p.Asn943Thr)
c.2747A>C (p.Asn916Thr)
c.2612A>C (p.Asn871Thr)
c.1601A>C (p.Asn534Thr)
12g.101761652T>ACA386296269GNPTABc.2827A>T (p.Asn943Tyr)
c.2746A>T (p.Asn916Tyr)
c.2611A>T (p.Asn871Tyr)
c.1600A>T (p.Asn534Tyr)
12g.101761652T>CCA386296270GNPTABc.2827A>G (p.Asn943Asp)
c.2746A>G (p.Asn916Asp)
c.2611A>G (p.Asn871Asp)
c.1600A>G (p.Asn534Asp)
12g.101761652T>GCA386296271GNPTABc.2827A>C (p.Asn943His)
c.2746A>C (p.Asn916His)
c.2611A>C (p.Asn871His)
c.1600A>C (p.Asn534His)
12g.101761653T>ACA481576760GNPTABc.2826A>T (p.Leu942=)
c.2745A>T (p.Leu915=)
c.2610A>T (p.Leu870=)
c.1599A>T (p.Leu533=)
12g.101761653T>CCA481576761GNPTABc.2826A>G (p.Leu942=)
c.2745A>G (p.Leu915=)
c.2610A>G (p.Leu870=)
c.1599A>G (p.Leu533=)
12g.101761653T>GCA481576762GNPTABc.2826A>C (p.Leu942=)
c.2745A>C (p.Leu915=)
c.2610A>C (p.Leu870=)
c.1599A>C (p.Leu533=)
12g.101761654A>CCA386296272GNPTABc.2825T>G (p.Leu942Arg)
c.2744T>G (p.Leu915Arg)
c.2609T>G (p.Leu870Arg)
c.1598T>G (p.Leu533Arg)
12g.101761654A>GCA386296273GNPTABc.2825T>C (p.Leu942Pro)
c.2744T>C (p.Leu915Pro)
c.2609T>C (p.Leu870Pro)
c.1598T>C (p.Leu533Pro)
 ClinVar dbSNP
12g.101761654A>TCA386296274GNPTABc.2825T>A (p.Leu942Gln)
c.2744T>A (p.Leu915Gln)
c.2609T>A (p.Leu870Gln)
c.1598T>A (p.Leu533Gln)
12g.101761655G>ACA481576764GNPTABc.2824C>T (p.Leu942=)
c.2743C>T (p.Leu915=)
c.2608C>T (p.Leu870=)
c.1597C>T (p.Leu533=)
12g.101761655G>CCA386296275GNPTABc.2824C>G (p.Leu942Val)
c.2743C>G (p.Leu915Val)
c.2608C>G (p.Leu870Val)
c.1597C>G (p.Leu533Val)
12g.101761655G>TCA386296276GNPTABc.2824C>A (p.Leu942Ile)
c.2743C>A (p.Leu915Ile)
c.2608C>A (p.Leu870Ile)
c.1597C>A (p.Leu533Ile)
 gnomAD v4 COSMIC
12g.101761656A>CCA386296277GNPTABc.2823T>G (p.Ile941Met)
c.2742T>G (p.Ile914Met)
c.2607T>G (p.Ile869Met)
c.1596T>G (p.Ile532Met)
 gnomAD v4
12g.101761656A>GCA481576768GNPTABc.2823T>C (p.Ile941=)
c.2742T>C (p.Ile914=)
c.2607T>C (p.Ile869=)
c.1596T>C (p.Ile532=)
12g.101761656A>TCA481576769GNPTABc.2823T>A (p.Ile941=)
c.2742T>A (p.Ile914=)
c.2607T>A (p.Ile869=)
c.1596T>A (p.Ile532=)
12g.101761657A>CCA386296280GNPTABc.2822T>G (p.Ile941Ser)
c.2741T>G (p.Ile914Ser)
c.2606T>G (p.Ile869Ser)
c.1595T>G (p.Ile532Ser)
12g.101761657A>GCA386296279GNPTABc.2822T>C (p.Ile941Thr)
c.2741T>C (p.Ile914Thr)
c.2606T>C (p.Ile869Thr)
c.1595T>C (p.Ile532Thr)
 COSMIC
12g.101761657A>TCA386296278GNPTABc.2822T>A (p.Ile941Asn)
c.2741T>A (p.Ile914Asn)
c.2606T>A (p.Ile869Asn)
c.1595T>A (p.Ile532Asn)
12g.101761658T>ACA386296281GNPTABc.2821A>T (p.Ile941Phe)
c.2740A>T (p.Ile914Phe)
c.2605A>T (p.Ile869Phe)
c.1594A>T (p.Ile532Phe)
12g.101761658T>CCA386296282GNPTABc.2821A>G (p.Ile941Val)
c.2740A>G (p.Ile914Val)
c.2605A>G (p.Ile869Val)
c.1594A>G (p.Ile532Val)
12g.101761658T>GCA386296283GNPTABc.2821A>C (p.Ile941Leu)
c.2740A>C (p.Ile914Leu)
c.2605A>C (p.Ile869Leu)
c.1594A>C (p.Ile532Leu)
12g.101761661dupCA2695217202GNPTABc.2821dup (p.Ile941AsnfsTer4)
c.2740dup (p.Ile914AsnfsTer4)
c.2605dup (p.Ile869AsnfsTer4)
c.1594dup (p.Ile532AsnfsTer4)
12g.101761659T>ACA386296284GNPTABc.2820A>T (p.Lys940Asn)
c.2739A>T (p.Lys913Asn)
c.2604A>T (p.Lys868Asn)
c.1593A>T (p.Lys531Asn)
12g.101761659T>CCA481576772GNPTABc.2820A>G (p.Lys940=)
c.2739A>G (p.Lys913=)
c.2604A>G (p.Lys868=)
c.1593A>G (p.Lys531=)
 gnomAD v4
12g.101761659T>GCA386296285GNPTABc.2820A>C (p.Lys940Asn)
c.2739A>C (p.Lys913Asn)
c.2604A>C (p.Lys868Asn)
c.1593A>C (p.Lys531Asn)
12g.101761660T>ACA386296286GNPTABc.2819A>T (p.Lys940Ile)
c.2738A>T (p.Lys913Ile)
c.2603A>T (p.Lys868Ile)
c.1592A>T (p.Lys531Ile)
12g.101761660T>CCA386296287GNPTABc.2819A>G (p.Lys940Arg)
c.2738A>G (p.Lys913Arg)
c.2603A>G (p.Lys868Arg)
c.1592A>G (p.Lys531Arg)
12g.101761660T>GCA386296288GNPTABc.2819A>C (p.Lys940Thr)
c.2738A>C (p.Lys913Thr)
c.2603A>C (p.Lys868Thr)
c.1592A>C (p.Lys531Thr)
 gnomAD v4
12g.101761661T>ACA386296289GNPTABc.2818A>T (p.Lys940Ter)
c.2737A>T (p.Lys913Ter)
c.2602A>T (p.Lys868Ter)
c.1591A>T (p.Lys531Ter)
12g.101761661T>CCA386296290GNPTABc.2818A>G (p.Lys940Glu)
c.2737A>G (p.Lys913Glu)
c.2602A>G (p.Lys868Glu)
c.1591A>G (p.Lys531Glu)
12g.101761661T>GCA6746342GNPTABc.2818A>C (p.Lys940Gln)
c.2737A>C (p.Lys913Gln)
c.2602A>C (p.Lys868Gln)
c.1591A>C (p.Lys531Gln)
 dbSNP ExAC gnomAD v2
12g.101761661T=CA2058953110GNPTABc.2818A= (p.Lys940=)
c.2737A= (p.Lys913=)
c.2602A= (p.Lys868=)
c.1591A= (p.Lys531=)
12g.101761662A>CCA386296291GNPTABc.2817T>G (p.Asn939Lys)
c.2736T>G (p.Asn912Lys)
c.2601T>G (p.Asn867Lys)
c.1590T>G (p.Asn530Lys)
12g.101761662A>GCA481576777GNPTABc.2817T>C (p.Asn939=)
c.2736T>C (p.Asn912=)
c.2601T>C (p.Asn867=)
c.1590T>C (p.Asn530=)
 gnomAD v4
12g.101761662A>TCA386296292GNPTABc.2817T>A (p.Asn939Lys)
c.2736T>A (p.Asn912Lys)
c.2601T>A (p.Asn867Lys)
c.1590T>A (p.Asn530Lys)
12g.101761663T>ACA386296295GNPTABc.2816A>T (p.Asn939Ile)
c.2735A>T (p.Asn912Ile)
c.2600A>T (p.Asn867Ile)
c.1589A>T (p.Asn530Ile)
12g.101761663T>CCA386296293GNPTABc.2816A>G (p.Asn939Ser)
c.2735A>G (p.Asn912Ser)
c.2600A>G (p.Asn867Ser)
c.1589A>G (p.Asn530Ser)
12g.101761663T>GCA386296294GNPTABc.2816A>C (p.Asn939Thr)
c.2735A>C (p.Asn912Thr)
c.2600A>C (p.Asn867Thr)
c.1589A>C (p.Asn530Thr)
12g.101761664T>ACA386296296GNPTABc.2815A>T (p.Asn939Tyr)
c.2734A>T (p.Asn912Tyr)
c.2599A>T (p.Asn867Tyr)
c.1588A>T (p.Asn530Tyr)
12g.101761664T>CCA386296297GNPTABc.2815A>G (p.Asn939Asp)
c.2734A>G (p.Asn912Asp)
c.2599A>G (p.Asn867Asp)
c.1588A>G (p.Asn530Asp)
12g.101761664T>GCA386296298GNPTABc.2815A>C (p.Asn939His)
c.2734A>C (p.Asn912His)
c.2599A>C (p.Asn867His)
c.1588A>C (p.Asn530His)
12g.101761665T>ACA481576780GNPTABc.2814A>T (p.Val938=)
c.2733A>T (p.Val911=)
c.2598A>T (p.Val866=)
c.1587A>T (p.Val529=)
12g.101761665T>CCA481576781GNPTABc.2814A>G (p.Val938=)
c.2733A>G (p.Val911=)
c.2598A>G (p.Val866=)
c.1587A>G (p.Val529=)
12g.101761665T>GCA481576784GNPTABc.2814A>C (p.Val938=)
c.2733A>C (p.Val911=)
c.2598A>C (p.Val866=)
c.1587A>C (p.Val529=)
12g.101761666A>CCA386296299GNPTABc.2813T>G (p.Val938Gly)
c.2732T>G (p.Val911Gly)
c.2597T>G (p.Val866Gly)
c.1586T>G (p.Val529Gly)
12g.101761666A>GCA386296300GNPTABc.2813T>C (p.Val938Ala)
c.2732T>C (p.Val911Ala)
c.2597T>C (p.Val866Ala)
c.1586T>C (p.Val529Ala)
12g.101761666A>TCA386296301GNPTABc.2813T>A (p.Val938Glu)
c.2732T>A (p.Val911Glu)
c.2597T>A (p.Val866Glu)
c.1586T>A (p.Val529Glu)
12g.101761667C>ACA386296302GNPTABc.2812G>T (p.Val938Leu)
c.2731G>T (p.Val911Leu)
c.2596G>T (p.Val866Leu)
c.1585G>T (p.Val529Leu)
12g.101761667C=CA2058953113GNPTABc.2812G= (p.Val938=)
c.2731G= (p.Val911=)
c.2596G= (p.Val866=)
c.1585G= (p.Val529=)
12g.101761667C>GCA386296303GNPTABc.2812G>C (p.Val938Leu)
c.2731G>C (p.Val911Leu)
c.2596G>C (p.Val866Leu)
c.1585G>C (p.Val529Leu)
12g.101761667C>TCA6746343GNPTABc.2812G>A (p.Val938Ile)
c.2731G>A (p.Val911Ile)
c.2596G>A (p.Val866Ile)
c.1585G>A (p.Val529Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761667_101761668insCATGCTAAATTTCA2058953121GNPTABc.2811_2812insAAATTTAGCATG (p.Tyr937_Val938insLysPheSerMet)
c.2730_2731insAAATTTAGCATG (p.Tyr910_Val911insLysPheSerMet)
c.2595_2596insAAATTTAGCATG (p.Tyr865_Val866insLysPheSerMet)
c.1584_1585insAAATTTAGCATG (p.Tyr528_Val529insLysPheSerMet)
 dbSNP
12g.101761668A=CA2058953123GNPTABc.2811T= (p.Tyr937=)
c.2730T= (p.Tyr910=)
c.2595T= (p.Tyr865=)
c.1584T= (p.Tyr528=)
12g.101761668A>CCA386296304GNPTABc.2811T>G (p.Tyr937Ter)
c.2730T>G (p.Tyr910Ter)
c.2595T>G (p.Tyr865Ter)
c.1584T>G (p.Tyr528Ter)
12g.101761668A>GCA242454332GNPTABc.2811T>C (p.Tyr937=)
c.2730T>C (p.Tyr910=)
c.2595T>C (p.Tyr865=)
c.1584T>C (p.Tyr528=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101761668A>TCA386296305GNPTABc.2811T>A (p.Tyr937Ter)
c.2730T>A (p.Tyr910Ter)
c.2595T>A (p.Tyr865Ter)
c.1584T>A (p.Tyr528Ter)
 gnomAD v4
12g.101761669T>ACA386296306GNPTABc.2810A>T (p.Tyr937Phe)
c.2729A>T (p.Tyr910Phe)
c.2594A>T (p.Tyr865Phe)
c.1583A>T (p.Tyr528Phe)
12g.101761669T>CCA386296308GNPTABc.2810A>G (p.Tyr937Cys)
c.2729A>G (p.Tyr910Cys)
c.2594A>G (p.Tyr865Cys)
c.1583A>G (p.Tyr528Cys)
 gnomAD v4
12g.101761669T>GCA386296307GNPTABc.2810A>C (p.Tyr937Ser)
c.2729A>C (p.Tyr910Ser)
c.2594A>C (p.Tyr865Ser)
c.1583A>C (p.Tyr528Ser)
12g.101761670A>CCA386296309GNPTABc.2809T>G (p.Tyr937Asp)
c.2728T>G (p.Tyr910Asp)
c.2593T>G (p.Tyr865Asp)
c.1582T>G (p.Tyr528Asp)
12g.101761670A>GCA386296311GNPTABc.2809T>C (p.Tyr937His)
c.2728T>C (p.Tyr910His)
c.2593T>C (p.Tyr865His)
c.1582T>C (p.Tyr528His)
 gnomAD v4
12g.101761670A>TCA386296310GNPTABc.2809T>A (p.Tyr937Asn)
c.2728T>A (p.Tyr910Asn)
c.2593T>A (p.Tyr865Asn)
c.1582T>A (p.Tyr528Asn)
12g.101761671T>ACA386296312GNPTABc.2808A>T (p.Arg936Ser)
c.2727A>T (p.Arg909Ser)
c.2592A>T (p.Arg864Ser)
c.1581A>T (p.Arg527Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.101761671T>CCA481576789GNPTABc.2808A>G (p.Arg936=)
c.2727A>G (p.Arg909=)
c.2592A>G (p.Arg864=)
c.1581A>G (p.Arg527=)
 gnomAD v4
12g.101761671T>GCA386296313GNPTABc.2808A>C (p.Arg936Ser)
c.2727A>C (p.Arg909Ser)
c.2592A>C (p.Arg864Ser)
c.1581A>C (p.Arg527Ser)
 dbSNP
12g.101761671T=CA2058953132GNPTABc.2808A= (p.Arg936=)
c.2727A= (p.Arg909=)
c.2592A= (p.Arg864=)
c.1581A= (p.Arg527=)
12g.101761672C>ACA386296314GNPTABc.2807G>T (p.Arg936Ile)
c.2726G>T (p.Arg909Ile)
c.2591G>T (p.Arg864Ile)
c.1580G>T (p.Arg527Ile)
12g.101761672C=CA2058953138GNPTABc.2807G= (p.Arg936=)
c.2726G= (p.Arg909=)
c.2591G= (p.Arg864=)
c.1580G= (p.Arg527=)
12g.101761672C>GCA386296316GNPTABc.2807G>C (p.Arg936Thr)
c.2726G>C (p.Arg909Thr)
c.2591G>C (p.Arg864Thr)
c.1580G>C (p.Arg527Thr)
12g.101761672C>TCA386296315GNPTABc.2807G>A (p.Arg936Lys)
c.2726G>A (p.Arg909Lys)
c.2591G>A (p.Arg864Lys)
c.1580G>A (p.Arg527Lys)
 dbSNP
12g.101761672_101761673delinsCTCA2058953136GNPTABc.2806_2807delinsAG (p.Arg936=)
c.2725_2726delinsAG (p.Arg909=)
c.2590_2591delinsAG (p.Arg864=)
c.1579_1580delinsAG (p.Arg527=)
12g.101761673delCA682784088GNPTABc.2806del (p.Arg936AspfsTer3)
c.2725del (p.Arg909AspfsTer3)
c.2590del (p.Arg864AspfsTer3)
c.1579del (p.Arg527AspfsTer3)
 dbSNP gnomAD v3 gnomAD v4
12g.101761673T>ACA386296317GNPTABc.2806A>T (p.Arg936Ter)
c.2725A>T (p.Arg909Ter)
c.2590A>T (p.Arg864Ter)
c.1579A>T (p.Arg527Ter)
12g.101761673T>CCA386296318GNPTABc.2806A>G (p.Arg936Gly)
c.2725A>G (p.Arg909Gly)
c.2590A>G (p.Arg864Gly)
c.1579A>G (p.Arg527Gly)
 gnomAD v4
12g.101761673T>GCA481576791GNPTABc.2806A>C (p.Arg936=)
c.2725A>C (p.Arg909=)
c.2590A>C (p.Arg864=)
c.1579A>C (p.Arg527=)
12g.101761674G>ACA481576795GNPTABc.2805C>T (p.Leu935=)
c.2724C>T (p.Leu908=)
c.2589C>T (p.Leu863=)
c.1578C>T (p.Leu526=)
 COSMIC
12g.101761674G>CCA481576796GNPTABc.2805C>G (p.Leu935=)
c.2724C>G (p.Leu908=)
c.2589C>G (p.Leu863=)
c.1578C>G (p.Leu526=)
12g.101761674G>TCA481576797GNPTABc.2805C>A (p.Leu935=)
c.2724C>A (p.Leu908=)
c.2589C>A (p.Leu863=)
c.1578C>A (p.Leu526=)
12g.101761675A>CCA386296319GNPTABc.2804T>G (p.Leu935Arg)
c.2723T>G (p.Leu908Arg)
c.2588T>G (p.Leu863Arg)
c.1577T>G (p.Leu526Arg)
12g.101761675A>GCA386296320GNPTABc.2804T>C (p.Leu935Pro)
c.2723T>C (p.Leu908Pro)
c.2588T>C (p.Leu863Pro)
c.1577T>C (p.Leu526Pro)
12g.101761675A>TCA386296321GNPTABc.2804T>A (p.Leu935His)
c.2723T>A (p.Leu908His)
c.2588T>A (p.Leu863His)
c.1577T>A (p.Leu526His)
12g.101761676G>ACA386296322GNPTABc.2803C>T (p.Leu935Phe)
c.2722C>T (p.Leu908Phe)
c.2587C>T (p.Leu863Phe)
c.1576C>T (p.Leu526Phe)
 gnomAD v4
12g.101761676G>CCA386296323GNPTABc.2803C>G (p.Leu935Val)
c.2722C>G (p.Leu908Val)
c.2587C>G (p.Leu863Val)
c.1576C>G (p.Leu526Val)
12g.101761676G>TCA386296324GNPTABc.2803C>A (p.Leu935Ile)
c.2722C>A (p.Leu908Ile)
c.2587C>A (p.Leu863Ile)
c.1576C>A (p.Leu526Ile)
12g.101761677G>ACA481576799GNPTABc.2802C>T (p.Ser934=)
c.2721C>T (p.Ser907=)
c.2586C>T (p.Ser862=)
c.1575C>T (p.Ser525=)
 ClinVar
12g.101761677G>CCA481576802GNPTABc.2802C>G (p.Ser934=)
c.2721C>G (p.Ser907=)
c.2586C>G (p.Ser862=)
c.1575C>G (p.Ser525=)
12g.101761677G>TCA481576804GNPTABc.2802C>A (p.Ser934=)
c.2721C>A (p.Ser907=)
c.2586C>A (p.Ser862=)
c.1575C>A (p.Ser525=)
12g.101761678G>ACA386296325GNPTABc.2801C>T (p.Ser934Phe)
c.2720C>T (p.Ser907Phe)
c.2585C>T (p.Ser862Phe)
c.1574C>T (p.Ser525Phe)
12g.101761678G>CCA386296326GNPTABc.2801C>G (p.Ser934Cys)
c.2720C>G (p.Ser907Cys)
c.2585C>G (p.Ser862Cys)
c.1574C>G (p.Ser525Cys)
12g.101761678G>TCA386296327GNPTABc.2801C>A (p.Ser934Tyr)
c.2720C>A (p.Ser907Tyr)
c.2585C>A (p.Ser862Tyr)
c.1574C>A (p.Ser525Tyr)
12g.101761679A>CCA386296330GNPTABc.2800T>G (p.Ser934Ala)
c.2719T>G (p.Ser907Ala)
c.2584T>G (p.Ser862Ala)
c.1573T>G (p.Ser525Ala)
12g.101761679A>GCA386296329GNPTABc.2800T>C (p.Ser934Pro)
c.2719T>C (p.Ser907Pro)
c.2584T>C (p.Ser862Pro)
c.1573T>C (p.Ser525Pro)
12g.101761679A>TCA386296328GNPTABc.2800T>A (p.Ser934Thr)
c.2719T>A (p.Ser907Thr)
c.2584T>A (p.Ser862Thr)
c.1573T>A (p.Ser525Thr)
12g.101761680A>CCA386296331GNPTABc.2799T>G (p.Asp933Glu)
c.2718T>G (p.Asp906Glu)
c.2583T>G (p.Asp861Glu)
c.1572T>G (p.Asp524Glu)
12g.101761680A>GCA481576806GNPTABc.2799T>C (p.Asp933=)
c.2718T>C (p.Asp906=)
c.2583T>C (p.Asp861=)
c.1572T>C (p.Asp524=)
12g.101761680A>TCA386296332GNPTABc.2799T>A (p.Asp933Glu)
c.2718T>A (p.Asp906Glu)
c.2583T>A (p.Asp861Glu)
c.1572T>A (p.Asp524Glu)
 ClinVar dbSNP
12g.101761681T>ACA386296333GNPTABc.2798A>T (p.Asp933Val)
c.2717A>T (p.Asp906Val)
c.2582A>T (p.Asp861Val)
c.1571A>T (p.Asp524Val)
12g.101761681T>CCA386296334GNPTABc.2798A>G (p.Asp933Gly)
c.2717A>G (p.Asp906Gly)
c.2582A>G (p.Asp861Gly)
c.1571A>G (p.Asp524Gly)
12g.101761681T>GCA386296335GNPTABc.2798A>C (p.Asp933Ala)
c.2717A>C (p.Asp906Ala)
c.2582A>C (p.Asp861Ala)
c.1571A>C (p.Asp524Ala)
12g.101761682C>ACA386296336GNPTABc.2797G>T (p.Asp933Tyr)
c.2716G>T (p.Asp906Tyr)
c.2581G>T (p.Asp861Tyr)
c.1570G>T (p.Asp524Tyr)
12g.101761682C=CA2058953145GNPTABc.2797G= (p.Asp933=)
c.2716G= (p.Asp906=)
c.2581G= (p.Asp861=)
c.1570G= (p.Asp524=)
12g.101761682C>GCA386296337GNPTABc.2797G>C (p.Asp933His)
c.2716G>C (p.Asp906His)
c.2581G>C (p.Asp861His)
c.1570G>C (p.Asp524His)
12g.101761682C>TCA386296338GNPTABc.2797G>A (p.Asp933Asn)
c.2716G>A (p.Asp906Asn)
c.2581G>A (p.Asp861Asn)
c.1570G>A (p.Asp524Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761683T>ACA481576810GNPTABc.2796A>T (p.Ala932=)
c.2715A>T (p.Ala905=)
c.2580A>T (p.Ala860=)
c.1569A>T (p.Ala523=)
12g.101761683T>CCA481576811GNPTABc.2796A>G (p.Ala932=)
c.2715A>G (p.Ala905=)
c.2580A>G (p.Ala860=)
c.1569A>G (p.Ala523=)
12g.101761683T>GCA481576812GNPTABc.2796A>C (p.Ala932=)
c.2715A>C (p.Ala905=)
c.2580A>C (p.Ala860=)
c.1569A>C (p.Ala523=)
12g.101761683_101761685delinsAACA2580085678GNPTABc.2794_2796delinsTT (p.Ala932LeufsTer7)
c.2713_2715delinsTT (p.Ala905LeufsTer7)
c.2578_2580delinsTT (p.Ala860LeufsTer7)
c.1567_1569delinsTT (p.Ala523LeufsTer7)
 ClinVar
12g.101761684G>ACA386296339GNPTABc.2795C>T (p.Ala932Val)
c.2714C>T (p.Ala905Val)
c.2579C>T (p.Ala860Val)
c.1568C>T (p.Ala523Val)
12g.101761684G>CCA386296340GNPTABc.2795C>G (p.Ala932Gly)
c.2714C>G (p.Ala905Gly)
c.2579C>G (p.Ala860Gly)
c.1568C>G (p.Ala523Gly)
12g.101761684G>TCA386296341GNPTABc.2795C>A (p.Ala932Glu)
c.2714C>A (p.Ala905Glu)
c.2579C>A (p.Ala860Glu)
c.1568C>A (p.Ala523Glu)
12g.101761685C>ACA386296343GNPTABc.2794G>T (p.Ala932Ser)
c.2713G>T (p.Ala905Ser)
c.2578G>T (p.Ala860Ser)
c.1567G>T (p.Ala523Ser)
12g.101761685C>GCA386296344GNPTABc.2794G>C (p.Ala932Pro)
c.2713G>C (p.Ala905Pro)
c.2578G>C (p.Ala860Pro)
c.1567G>C (p.Ala523Pro)
12g.101761685C>TCA386296342GNPTABc.2794G>A (p.Ala932Thr)
c.2713G>A (p.Ala905Thr)
c.2578G>A (p.Ala860Thr)
c.1567G>A (p.Ala523Thr)
12g.101761686A>CCA386296345GNPTABc.2793T>G (p.Phe931Leu)
c.2712T>G (p.Phe904Leu)
c.2577T>G (p.Phe859Leu)
c.1566T>G (p.Phe522Leu)
12g.101761686A>GCA481576813GNPTABc.2793T>C (p.Phe931=)
c.2712T>C (p.Phe904=)
c.2577T>C (p.Phe859=)
c.1566T>C (p.Phe522=)
12g.101761686A>TCA386296346GNPTABc.2793T>A (p.Phe931Leu)
c.2712T>A (p.Phe904Leu)
c.2577T>A (p.Phe859Leu)
c.1566T>A (p.Phe522Leu)
12g.101761688dupCA2620428758GNPTABc.2793dup (p.Ala932CysfsTer9)
c.2712dup (p.Ala905CysfsTer9)
c.2577dup (p.Ala860CysfsTer9)
c.1566dup (p.Ala523CysfsTer9)
 gnomAD v4
12g.101761687A>CCA386296347GNPTABc.2792T>G (p.Phe931Cys)
c.2711T>G (p.Phe904Cys)
c.2576T>G (p.Phe859Cys)
c.1565T>G (p.Phe522Cys)
12g.101761687A>GCA386296348GNPTABc.2792T>C (p.Phe931Ser)
c.2711T>C (p.Phe904Ser)
c.2576T>C (p.Phe859Ser)
c.1565T>C (p.Phe522Ser)
12g.101761687A>TCA386296349GNPTABc.2792T>A (p.Phe931Tyr)
c.2711T>A (p.Phe904Tyr)
c.2576T>A (p.Phe859Tyr)
c.1565T>A (p.Phe522Tyr)
12g.101761688A=CA2058953148GNPTABc.2791T= (p.Phe931=)
c.2710T= (p.Phe904=)
c.2575T= (p.Phe859=)
c.1564T= (p.Phe522=)
12g.101761688A>CCA386296350GNPTABc.2791T>G (p.Phe931Val)
c.2710T>G (p.Phe904Val)
c.2575T>G (p.Phe859Val)
c.1564T>G (p.Phe522Val)
12g.101761688A>GCA386296351GNPTABc.2791T>C (p.Phe931Leu)
c.2710T>C (p.Phe904Leu)
c.2575T>C (p.Phe859Leu)
c.1564T>C (p.Phe522Leu)
 dbSNP
12g.101761688A>TCA386296352GNPTABc.2791T>A (p.Phe931Ile)
c.2710T>A (p.Phe904Ile)
c.2575T>A (p.Phe859Ile)
c.1564T>A (p.Phe522Ile)
12g.101761689T>ACA481576814GNPTABc.2790A>T (p.Thr930=)
c.2709A>T (p.Thr903=)
c.2574A>T (p.Thr858=)
c.1563A>T (p.Thr521=)
12g.101761689T>CCA481576816GNPTABc.2790A>G (p.Thr930=)
c.2709A>G (p.Thr903=)
c.2574A>G (p.Thr858=)
c.1563A>G (p.Thr521=)
 ClinVar dbSNP
12g.101761689T>GCA481576815GNPTABc.2790A>C (p.Thr930=)
c.2709A>C (p.Thr903=)
c.2574A>C (p.Thr858=)
c.1563A>C (p.Thr521=)
12g.101761690G>ACA386296353GNPTABc.2789C>T (p.Thr930Ile)
c.2708C>T (p.Thr903Ile)
c.2573C>T (p.Thr858Ile)
c.1562C>T (p.Thr521Ile)
 dbSNP gnomAD v3 gnomAD v4
12g.101761690G>CCA386296354GNPTABc.2789C>G (p.Thr930Arg)
c.2708C>G (p.Thr903Arg)
c.2573C>G (p.Thr858Arg)
c.1562C>G (p.Thr521Arg)
12g.101761690G=CA2058953150GNPTABc.2789C= (p.Thr930=)
c.2708C= (p.Thr903=)
c.2573C= (p.Thr858=)
c.1562C= (p.Thr521=)
12g.101761690G>TCA386296355GNPTABc.2789C>A (p.Thr930Lys)
c.2708C>A (p.Thr903Lys)
c.2573C>A (p.Thr858Lys)
c.1562C>A (p.Thr521Lys)
12g.101761691T>ACA386296358GNPTABc.2788A>T (p.Thr930Ser)
c.2707A>T (p.Thr903Ser)
c.2572A>T (p.Thr858Ser)
c.1561A>T (p.Thr521Ser)
12g.101761691T>CCA386296357GNPTABc.2788A>G (p.Thr930Ala)
c.2707A>G (p.Thr903Ala)
c.2572A>G (p.Thr858Ala)
c.1561A>G (p.Thr521Ala)
 dbSNP
12g.101761691T>GCA386296356GNPTABc.2788A>C (p.Thr930Pro)
c.2707A>C (p.Thr903Pro)
c.2572A>C (p.Thr858Pro)
c.1561A>C (p.Thr521Pro)
12g.101761691T=CA2058953153GNPTABc.2788A= (p.Thr930=)
c.2707A= (p.Thr903=)
c.2572A= (p.Thr858=)
c.1561A= (p.Thr521=)
12g.101761692A=CA2058953155GNPTABc.2787T= (p.Asp929=)
c.2706T= (p.Asp902=)
c.2571T= (p.Asp857=)
c.1560T= (p.Asp520=)
12g.101761692A>CCA386296359GNPTABc.2787T>G (p.Asp929Glu)
c.2706T>G (p.Asp902Glu)
c.2571T>G (p.Asp857Glu)
c.1560T>G (p.Asp520Glu)
12g.101761692A>GCA481576817GNPTABc.2787T>C (p.Asp929=)
c.2706T>C (p.Asp902=)
c.2571T>C (p.Asp857=)
c.1560T>C (p.Asp520=)
12g.101761692A>TCA6746344GNPTABc.2787T>A (p.Asp929Glu)
c.2706T>A (p.Asp902Glu)
c.2571T>A (p.Asp857Glu)
c.1560T>A (p.Asp520Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761693T>ACA386296360GNPTABc.2786A>T (p.Asp929Val)
c.2705A>T (p.Asp902Val)
c.2570A>T (p.Asp857Val)
c.1559A>T (p.Asp520Val)
12g.101761693T>CCA386296361GNPTABc.2786A>G (p.Asp929Gly)
c.2705A>G (p.Asp902Gly)
c.2570A>G (p.Asp857Gly)
c.1559A>G (p.Asp520Gly)
12g.101761693T>GCA386296362GNPTABc.2786A>C (p.Asp929Ala)
c.2705A>C (p.Asp902Ala)
c.2570A>C (p.Asp857Ala)
c.1559A>C (p.Asp520Ala)
12g.101761694C>ACA386296363GNPTABc.2785G>T (p.Asp929Tyr)
c.2704G>T (p.Asp902Tyr)
c.2569G>T (p.Asp857Tyr)
c.1558G>T (p.Asp520Tyr)
 gnomAD v4
12g.101761694C>GCA386296364GNPTABc.2785G>C (p.Asp929His)
c.2704G>C (p.Asp902His)
c.2569G>C (p.Asp857His)
c.1558G>C (p.Asp520His)
12g.101761694C>TCA386296365GNPTABc.2785G>A (p.Asp929Asn)
c.2704G>A (p.Asp902Asn)
c.2569G>A (p.Asp857Asn)
c.1558G>A (p.Asp520Asn)
12g.101761695T>ACA386296366GNPTABc.2784A>T (p.Lys928Asn)
c.2703A>T (p.Lys901Asn)
c.2568A>T (p.Lys856Asn)
c.1557A>T (p.Lys519Asn)
12g.101761695T>CCA481576818GNPTABc.2784A>G (p.Lys928=)
c.2703A>G (p.Lys901=)
c.2568A>G (p.Lys856=)
c.1557A>G (p.Lys519=)
12g.101761695T>GCA386296367GNPTABc.2784A>C (p.Lys928Asn)
c.2703A>C (p.Lys901Asn)
c.2568A>C (p.Lys856Asn)
c.1557A>C (p.Lys519Asn)
12g.101761696T>ACA386296368GNPTABc.2783A>T (p.Lys928Ile)
c.2702A>T (p.Lys901Ile)
c.2567A>T (p.Lys856Ile)
c.1556A>T (p.Lys519Ile)
12g.101761696T>CCA356545GNPTABc.2783A>G (p.Lys928Arg)
c.2702A>G (p.Lys901Arg)
c.2567A>G (p.Lys856Arg)
c.1556A>G (p.Lys519Arg)
 dbSNP
12g.101761696T>GCA386296369GNPTABc.2783A>C (p.Lys928Thr)
c.2702A>C (p.Lys901Thr)
c.2567A>C (p.Lys856Thr)
c.1556A>C (p.Lys519Thr)
12g.101761696T=CA2058953162GNPTABc.2783A= (p.Lys928=)
c.2702A= (p.Lys901=)
c.2567A= (p.Lys856=)
c.1556A= (p.Lys519=)
12g.101761697T>ACA386296371GNPTABc.2782A>T (p.Lys928Ter)
c.2701A>T (p.Lys901Ter)
c.2566A>T (p.Lys856Ter)
c.1555A>T (p.Lys519Ter)
12g.101761697T>CCA386296372GNPTABc.2782A>G (p.Lys928Glu)
c.2701A>G (p.Lys901Glu)
c.2566A>G (p.Lys856Glu)
c.1555A>G (p.Lys519Glu)
12g.101761697T>GCA386296370GNPTABc.2782A>C (p.Lys928Gln)
c.2701A>C (p.Lys901Gln)
c.2566A>C (p.Lys856Gln)
c.1555A>C (p.Lys519Gln)
12g.101761698T>ACA481576819GNPTABc.2781A>T (p.Leu927=)
c.2700A>T (p.Leu900=)
c.2565A>T (p.Leu855=)
c.1554A>T (p.Leu518=)
12g.101761698T>CCA481576820GNPTABc.2781A>G (p.Leu927=)
c.2700A>G (p.Leu900=)
c.2565A>G (p.Leu855=)
c.1554A>G (p.Leu518=)
 ClinVar dbSNP
12g.101761698T>GCA481576821GNPTABc.2781A>C (p.Leu927=)
c.2700A>C (p.Leu900=)
c.2565A>C (p.Leu855=)
c.1554A>C (p.Leu518=)
12g.101761698T=CA2058953164GNPTABc.2781A= (p.Leu927=)
c.2700A= (p.Leu900=)
c.2565A= (p.Leu855=)
c.1554A= (p.Leu518=)
12g.101761699A>CCA386296373GNPTABc.2780T>G (p.Leu927Arg)
c.2699T>G (p.Leu900Arg)
c.2564T>G (p.Leu855Arg)
c.1553T>G (p.Leu518Arg)
12g.101761699A>GCA386296374GNPTABc.2780T>C (p.Leu927Pro)
c.2699T>C (p.Leu900Pro)
c.2564T>C (p.Leu855Pro)
c.1553T>C (p.Leu518Pro)
12g.101761699A>TCA386296375GNPTABc.2780T>A (p.Leu927Gln)
c.2699T>A (p.Leu900Gln)
c.2564T>A (p.Leu855Gln)
c.1553T>A (p.Leu518Gln)
12g.101761700G>ACA481576822GNPTABc.2779C>T (p.Leu927=)
c.2698C>T (p.Leu900=)
c.2563C>T (p.Leu855=)
c.1552C>T (p.Leu518=)
12g.101761700G>CCA386296376GNPTABc.2779C>G (p.Leu927Val)
c.2698C>G (p.Leu900Val)
c.2563C>G (p.Leu855Val)
c.1552C>G (p.Leu518Val)
12g.101761700G>TCA386296377GNPTABc.2779C>A (p.Leu927Ile)
c.2698C>A (p.Leu900Ile)
c.2563C>A (p.Leu855Ile)
c.1552C>A (p.Leu518Ile)
12g.101761701T>ACA386296378GNPTABc.2778A>T (p.Gln926His)
c.2697A>T (p.Gln899His)
c.2562A>T (p.Gln854His)
c.1551A>T (p.Gln517His)
12g.101761701T>CCA481576823GNPTABc.2778A>G (p.Gln926=)
c.2697A>G (p.Gln899=)
c.2562A>G (p.Gln854=)
c.1551A>G (p.Gln517=)
 dbSNP gnomAD v2 gnomAD v4
12g.101761701T>GCA386296379GNPTABc.2778A>C (p.Gln926His)
c.2697A>C (p.Gln899His)
c.2562A>C (p.Gln854His)
c.1551A>C (p.Gln517His)
12g.101761701T=CA2058953167GNPTABc.2778A= (p.Gln926=)
c.2697A= (p.Gln899=)
c.2562A= (p.Gln854=)
c.1551A= (p.Gln517=)
12g.101761701_101761708delCA2620428759GNPTABc.2771_2778del (p.Gly924AlafsTer14)
c.2690_2697del (p.Gly897AlafsTer14)
c.2555_2562del (p.Gly852AlafsTer14)
c.1544_1551del (p.Gly515AlafsTer14)
 gnomAD v4
12g.101761702T>ACA386296380GNPTABc.2777A>T (p.Gln926Leu)
c.2696A>T (p.Gln899Leu)
c.2561A>T (p.Gln854Leu)
c.1550A>T (p.Gln517Leu)
 dbSNP
12g.101761702T>CCA386296381GNPTABc.2777A>G (p.Gln926Arg)
c.2696A>G (p.Gln899Arg)
c.2561A>G (p.Gln854Arg)
c.1550A>G (p.Gln517Arg)
12g.101761702T>GCA343382GNPTABc.2777A>C (p.Gln926Pro)
c.2696A>C (p.Gln899Pro)
c.2561A>C (p.Gln854Pro)
c.1550A>C (p.Gln517Pro)
 ClinVar dbSNP
12g.101761702T=CA2058953172GNPTABc.2777A= (p.Gln926=)
c.2696A= (p.Gln899=)
c.2561A= (p.Gln854=)
c.1550A= (p.Gln517=)
12g.101761703G>ACA386296382GNPTABc.2776C>T (p.Gln926Ter)
c.2695C>T (p.Gln899Ter)
c.2560C>T (p.Gln854Ter)
c.1549C>T (p.Gln517Ter)
12g.101761703G>CCA386296383GNPTABc.2776C>G (p.Gln926Glu)
c.2695C>G (p.Gln899Glu)
c.2560C>G (p.Gln854Glu)
c.1549C>G (p.Gln517Glu)
 gnomAD v4
12g.101761703G>TCA386296384GNPTABc.2776C>A (p.Gln926Lys)
c.2695C>A (p.Gln899Lys)
c.2560C>A (p.Gln854Lys)
c.1549C>A (p.Gln517Lys)
12g.101761704C>ACA386296386GNPTABc.2775G>T (p.Arg925Ser)
c.2694G>T (p.Arg898Ser)
c.2559G>T (p.Arg853Ser)
c.1548G>T (p.Arg516Ser)
12g.101761704C>GCA386296385GNPTABc.2775G>C (p.Arg925Ser)
c.2694G>C (p.Arg898Ser)
c.2559G>C (p.Arg853Ser)
c.1548G>C (p.Arg516Ser)
12g.101761704C>TCA481576824GNPTABc.2775G>A (p.Arg925=)
c.2694G>A (p.Arg898=)
c.2559G>A (p.Arg853=)
c.1548G>A (p.Arg516=)
 gnomAD v4 COSMIC
12g.101761705C>ACA386296387GNPTABc.2774G>T (p.Arg925Met)
c.2693G>T (p.Arg898Met)
c.2558G>T (p.Arg853Met)
c.1547G>T (p.Arg516Met)
12g.101761705C>GCA386296388GNPTABc.2774G>C (p.Arg925Thr)
c.2693G>C (p.Arg898Thr)
c.2558G>C (p.Arg853Thr)
c.1547G>C (p.Arg516Thr)
12g.101761705C>TCA386296389GNPTABc.2774G>A (p.Arg925Lys)
c.2693G>A (p.Arg898Lys)
c.2558G>A (p.Arg853Lys)
c.1547G>A (p.Arg516Lys)
12g.101761706T>ACA386296390GNPTABc.2773A>T (p.Arg925Trp)
c.2692A>T (p.Arg898Trp)
c.2557A>T (p.Arg853Trp)
c.1546A>T (p.Arg516Trp)
12g.101761706T>CCA386296391GNPTABc.2773A>G (p.Arg925Gly)
c.2692A>G (p.Arg898Gly)
c.2557A>G (p.Arg853Gly)
c.1546A>G (p.Arg516Gly)
12g.101761706T>GCA481576825GNPTABc.2773A>C (p.Arg925=)
c.2692A>C (p.Arg898=)
c.2557A>C (p.Arg853=)
c.1546A>C (p.Arg516=)
12g.101761707C>ACA481576826GNPTABc.2772G>T (p.Gly924=)
c.2691G>T (p.Gly897=)
c.2556G>T (p.Gly852=)
c.1545G>T (p.Gly515=)
12g.101761707C>GCA481576827GNPTABc.2772G>C (p.Gly924=)
c.2691G>C (p.Gly897=)
c.2556G>C (p.Gly852=)
c.1545G>C (p.Gly515=)
12g.101761707C>TCA481576828GNPTABc.2772G>A (p.Gly924=)
c.2691G>A (p.Gly897=)
c.2556G>A (p.Gly852=)
c.1545G>A (p.Gly515=)
12g.101761708C>ACA386296394GNPTABc.2771G>T (p.Gly924Val)
c.2690G>T (p.Gly897Val)
c.2555G>T (p.Gly852Val)
c.1544G>T (p.Gly515Val)
12g.101761708C>GCA386296393GNPTABc.2771G>C (p.Gly924Ala)
c.2690G>C (p.Gly897Ala)
c.2555G>C (p.Gly852Ala)
c.1544G>C (p.Gly515Ala)
12g.101761708C>TCA386296392GNPTABc.2771G>A (p.Gly924Glu)
c.2690G>A (p.Gly897Glu)
c.2555G>A (p.Gly852Glu)
c.1544G>A (p.Gly515Glu)
12g.101761709C>ACA386296395GNPTABc.2770G>T (p.Gly924Trp)
c.2689G>T (p.Gly897Trp)
c.2554G>T (p.Gly852Trp)
c.1543G>T (p.Gly515Trp)
12g.101761709C=CA2058953178GNPTABc.2770G= (p.Gly924=)
c.2689G= (p.Gly897=)
c.2554G= (p.Gly852=)
c.1543G= (p.Gly515=)
12g.101761709C>GCA386296396GNPTABc.2770G>C (p.Gly924Arg)
c.2689G>C (p.Gly897Arg)
c.2554G>C (p.Gly852Arg)
c.1543G>C (p.Gly515Arg)
12g.101761709C>TCA6746345GNPTABc.2770G>A (p.Gly924Arg)
c.2689G>A (p.Gly897Arg)
c.2554G>A (p.Gly852Arg)
c.1543G>A (p.Gly515Arg)
 dbSNP ExAC gnomAD v2
12g.101761710A>CCA481576829GNPTABc.2769T>G (p.Thr923=)
c.2688T>G (p.Thr896=)
c.2553T>G (p.Thr851=)
c.1542T>G (p.Thr514=)
12g.101761710A>GCA481576831GNPTABc.2769T>C (p.Thr923=)
c.2688T>C (p.Thr896=)
c.2553T>C (p.Thr851=)
c.1542T>C (p.Thr514=)
12g.101761710A>TCA481576830GNPTABc.2769T>A (p.Thr923=)
c.2688T>A (p.Thr896=)
c.2553T>A (p.Thr851=)
c.1542T>A (p.Thr514=)
12g.101761710_101761711insAAAATACA2620428760GNPTABc.2769_2770insATTTTT (p.Thr923_Gly924insIlePhe)
c.2688_2689insATTTTT (p.Thr896_Gly897insIlePhe)
c.2553_2554insATTTTT (p.Thr851_Gly852insIlePhe)
c.1542_1543insATTTTT (p.Thr514_Gly515insIlePhe)
 gnomAD v4
12g.101761711G>ACA386296397GNPTABc.2768C>T (p.Thr923Ile)
c.2687C>T (p.Thr896Ile)
c.2552C>T (p.Thr851Ile)
c.1541C>T (p.Thr514Ile)
12g.101761711G>CCA386296398GNPTABc.2768C>G (p.Thr923Ser)
c.2687C>G (p.Thr896Ser)
c.2552C>G (p.Thr851Ser)
c.1541C>G (p.Thr514Ser)
12g.101761711G>TCA386296399GNPTABc.2768C>A (p.Thr923Asn)
c.2687C>A (p.Thr896Asn)
c.2552C>A (p.Thr851Asn)
c.1541C>A (p.Thr514Asn)
12g.101761712T>ACA386296400GNPTABc.2767A>T (p.Thr923Ser)
c.2686A>T (p.Thr896Ser)
c.2551A>T (p.Thr851Ser)
c.1540A>T (p.Thr514Ser)
12g.101761712T>CCA386296402GNPTABc.2767A>G (p.Thr923Ala)
c.2686A>G (p.Thr896Ala)
c.2551A>G (p.Thr851Ala)
c.1540A>G (p.Thr514Ala)
12g.101761712T>GCA386296401GNPTABc.2767A>C (p.Thr923Pro)
c.2686A>C (p.Thr896Pro)
c.2551A>C (p.Thr851Pro)
c.1540A>C (p.Thr514Pro)
12g.101761713A>CCA386296403GNPTABc.2766T>G (p.Asn922Lys)
c.2685T>G (p.Asn895Lys)
c.2550T>G (p.Asn850Lys)
c.1539T>G (p.Asn513Lys)
12g.101761713A>GCA481576832GNPTABc.2766T>C (p.Asn922=)
c.2685T>C (p.Asn895=)
c.2550T>C (p.Asn850=)
c.1539T>C (p.Asn513=)
12g.101761713A>TCA386296404GNPTABc.2766T>A (p.Asn922Lys)
c.2685T>A (p.Asn895Lys)
c.2550T>A (p.Asn850Lys)
c.1539T>A (p.Asn513Lys)
12g.101761714T>ACA386296405GNPTABc.2765A>T (p.Asn922Ile)
c.2684A>T (p.Asn895Ile)
c.2549A>T (p.Asn850Ile)
c.1538A>T (p.Asn513Ile)
12g.101761714T>CCA386296406GNPTABc.2765A>G (p.Asn922Ser)
c.2684A>G (p.Asn895Ser)
c.2549A>G (p.Asn850Ser)
c.1538A>G (p.Asn513Ser)
12g.101761714T>GCA386296407GNPTABc.2765A>C (p.Asn922Thr)
c.2684A>C (p.Asn895Thr)
c.2549A>C (p.Asn850Thr)
c.1538A>C (p.Asn513Thr)
12g.101761715T>ACA386296410GNPTABc.2764A>T (p.Asn922Tyr)
c.2683A>T (p.Asn895Tyr)
c.2548A>T (p.Asn850Tyr)
c.1537A>T (p.Asn513Tyr)
12g.101761715T>CCA386296409GNPTABc.2764A>G (p.Asn922Asp)
c.2683A>G (p.Asn895Asp)
c.2548A>G (p.Asn850Asp)
c.1537A>G (p.Asn513Asp)
12g.101761715T>GCA386296408GNPTABc.2764A>C (p.Asn922His)
c.2683A>C (p.Asn895His)
c.2548A>C (p.Asn850His)
c.1537A>C (p.Asn513His)
12g.101761716T>ACA386296411GNPTABc.2763A>T (p.Lys921Asn)
c.2682A>T (p.Lys894Asn)
c.2547A>T (p.Lys849Asn)
c.1536A>T (p.Lys512Asn)
12g.101761716T>CCA6746346GNPTABc.2763A>G (p.Lys921=)
c.2682A>G (p.Lys894=)
c.2547A>G (p.Lys849=)
c.1536A>G (p.Lys512=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761716T>GCA386296412GNPTABc.2763A>C (p.Lys921Asn)
c.2682A>C (p.Lys894Asn)
c.2547A>C (p.Lys849Asn)
c.1536A>C (p.Lys512Asn)
12g.101761716T=CA2058953184GNPTABc.2763A= (p.Lys921=)
c.2682A= (p.Lys894=)
c.2547A= (p.Lys849=)
c.1536A= (p.Lys512=)
12g.101761717T>ACA386296413GNPTABc.2762A>T (p.Lys921Ile)
c.2681A>T (p.Lys894Ile)
c.2546A>T (p.Lys849Ile)
c.1535A>T (p.Lys512Ile)
 gnomAD v4
12g.101761717T>CCA6746347GNPTABc.2762A>G (p.Lys921Arg)
c.2681A>G (p.Lys894Arg)
c.2546A>G (p.Lys849Arg)
c.1535A>G (p.Lys512Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761717T>GCA386296414GNPTABc.2762A>C (p.Lys921Thr)
c.2681A>C (p.Lys894Thr)
c.2546A>C (p.Lys849Thr)
c.1535A>C (p.Lys512Thr)
12g.101761717T=CA2058953187GNPTABc.2762A= (p.Lys921=)
c.2681A= (p.Lys894=)
c.2546A= (p.Lys849=)
c.1535A= (p.Lys512=)
12g.101761718T>ACA386296415GNPTABc.2761A>T (p.Lys921Ter)
c.2680A>T (p.Lys894Ter)
c.2545A>T (p.Lys849Ter)
c.1534A>T (p.Lys512Ter)
 ClinVar dbSNP
12g.101761718T>CCA386296417GNPTABc.2761A>G (p.Lys921Glu)
c.2680A>G (p.Lys894Glu)
c.2545A>G (p.Lys849Glu)
c.1534A>G (p.Lys512Glu)
12g.101761718T>GCA386296416GNPTABc.2761A>C (p.Lys921Gln)
c.2680A>C (p.Lys894Gln)
c.2545A>C (p.Lys849Gln)
c.1534A>C (p.Lys512Gln)
 ClinVar
12g.101761718T=CA2058953190GNPTABc.2761A= (p.Lys921=)
c.2680A= (p.Lys894=)
c.2545A= (p.Lys849=)
c.1534A= (p.Lys512=)
12g.101761719G>ACA481576833GNPTABc.2760C>T (p.Ser920=)
c.2679C>T (p.Ser893=)
c.2544C>T (p.Ser848=)
c.1533C>T (p.Ser511=)
 gnomAD v4
12g.101761719G>CCA386296418GNPTABc.2760C>G (p.Ser920Arg)
c.2679C>G (p.Ser893Arg)
c.2544C>G (p.Ser848Arg)
c.1533C>G (p.Ser511Arg)
12g.101761719G=CA2058953195GNPTABc.2760C= (p.Ser920=)
c.2679C= (p.Ser893=)
c.2544C= (p.Ser848=)
c.1533C= (p.Ser511=)
12g.101761719G>TCA386296419GNPTABc.2760C>A (p.Ser920Arg)
c.2679C>A (p.Ser893Arg)
c.2544C>A (p.Ser848Arg)
c.1533C>A (p.Ser511Arg)
 dbSNP
12g.101761720C>ACA386296420GNPTABc.2759G>T (p.Ser920Ile)
c.2678G>T (p.Ser893Ile)
c.2543G>T (p.Ser848Ile)
c.1532G>T (p.Ser511Ile)
12g.101761720C=CA2058953200GNPTABc.2759G= (p.Ser920=)
c.2678G= (p.Ser893=)
c.2543G= (p.Ser848=)
c.1532G= (p.Ser511=)
12g.101761720C>GCA386296421GNPTABc.2759G>C (p.Ser920Thr)
c.2678G>C (p.Ser893Thr)
c.2543G>C (p.Ser848Thr)
c.1532G>C (p.Ser511Thr)
12g.101761720C>TCA6746348GNPTABc.2759G>A (p.Ser920Asn)
c.2678G>A (p.Ser893Asn)
c.2543G>A (p.Ser848Asn)
c.1532G>A (p.Ser511Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761720_101761722delinsCTACA2058953202GNPTABc.2757_2759delinsTAG (p.Asp919=)
c.2676_2678delinsTAG (p.Asp892=)
c.2541_2543delinsTAG (p.Asp847=)
c.1530_1532delinsTAG (p.Asp510=)
12g.101761721T>ACA386296422GNPTABc.2758A>T (p.Ser920Cys)
c.2677A>T (p.Ser893Cys)
c.2542A>T (p.Ser848Cys)
c.1531A>T (p.Ser511Cys)
12g.101761721T>CCA386296423GNPTABc.2758A>G (p.Ser920Gly)
c.2677A>G (p.Ser893Gly)
c.2542A>G (p.Ser848Gly)
c.1531A>G (p.Ser511Gly)
12g.101761721T>GCA242454387GNPTABc.2758A>C (p.Ser920Arg)
c.2677A>C (p.Ser893Arg)
c.2542A>C (p.Ser848Arg)
c.1531A>C (p.Ser511Arg)
 dbSNP
12g.101761721T=CA2058953205GNPTABc.2758A= (p.Ser920=)
c.2677A= (p.Ser893=)
c.2542A= (p.Ser848=)
c.1531A= (p.Ser511=)
12g.101761722_101761723delCA6746349GNPTABc.2757_2758del (p.Asp919GlufsTer21)
c.2676_2677del (p.Asp892GlufsTer21)
c.2541_2542del (p.Asp847GlufsTer21)
c.1530_1531del (p.Asp510GlufsTer21)
 ClinVar dbSNP ExAC gnomAD v4
12g.101761722A>CCA386296424GNPTABc.2757T>G (p.Asp919Glu)
c.2676T>G (p.Asp892Glu)
c.2541T>G (p.Asp847Glu)
c.1530T>G (p.Asp510Glu)
12g.101761722A>GCA481576834GNPTABc.2757T>C (p.Asp919=)
c.2676T>C (p.Asp892=)
c.2541T>C (p.Asp847=)
c.1530T>C (p.Asp510=)
12g.101761722A>TCA386296425GNPTABc.2757T>A (p.Asp919Glu)
c.2676T>A (p.Asp892Glu)
c.2541T>A (p.Asp847Glu)
c.1530T>A (p.Asp510Glu)
12g.101761723T>ACA386296427GNPTABc.2756A>T (p.Asp919Val)
c.2675A>T (p.Asp892Val)
c.2540A>T (p.Asp847Val)
c.1529A>T (p.Asp510Val)
12g.101761723T>CCA386296428GNPTABc.2756A>G (p.Asp919Gly)
c.2675A>G (p.Asp892Gly)
c.2540A>G (p.Asp847Gly)
c.1529A>G (p.Asp510Gly)
12g.101761723T>GCA386296426GNPTABc.2756A>C (p.Asp919Ala)
c.2675A>C (p.Asp892Ala)
c.2540A>C (p.Asp847Ala)
c.1529A>C (p.Asp510Ala)
12g.101761724C>ACA386296430GNPTABc.2755G>T (p.Asp919Tyr)
c.2674G>T (p.Asp892Tyr)
c.2539G>T (p.Asp847Tyr)
c.1528G>T (p.Asp510Tyr)
12g.101761724C>GCA386296429GNPTABc.2755G>C (p.Asp919His)
c.2674G>C (p.Asp892His)
c.2539G>C (p.Asp847His)
c.1528G>C (p.Asp510His)
12g.101761724C>TCA386296431GNPTABc.2755G>A (p.Asp919Asn)
c.2674G>A (p.Asp892Asn)
c.2539G>A (p.Asp847Asn)
c.1528G>A (p.Asp510Asn)
12g.101761725A>CCA481576835GNPTABc.2754T>G (p.Thr918=)
c.2673T>G (p.Thr891=)
c.2538T>G (p.Thr846=)
c.1527T>G (p.Thr509=)
12g.101761725A>GCA481576836GNPTABc.2754T>C (p.Thr918=)
c.2673T>C (p.Thr891=)
c.2538T>C (p.Thr846=)
c.1527T>C (p.Thr509=)
12g.101761725A>TCA481576837GNPTABc.2754T>A (p.Thr918=)
c.2673T>A (p.Thr891=)
c.2538T>A (p.Thr846=)
c.1527T>A (p.Thr509=)
12g.101761726G>ACA386296432GNPTABc.2753C>T (p.Thr918Ile)
c.2672C>T (p.Thr891Ile)
c.2537C>T (p.Thr846Ile)
c.1526C>T (p.Thr509Ile)
12g.101761726G>CCA386296433GNPTABc.2753C>G (p.Thr918Ser)
c.2672C>G (p.Thr891Ser)
c.2537C>G (p.Thr846Ser)
c.1526C>G (p.Thr509Ser)
12g.101761726G>TCA386296434GNPTABc.2753C>A (p.Thr918Asn)
c.2672C>A (p.Thr891Asn)
c.2537C>A (p.Thr846Asn)
c.1526C>A (p.Thr509Asn)
12g.101761727T>ACA386296435GNPTABc.2752A>T (p.Thr918Ser)
c.2671A>T (p.Thr891Ser)
c.2536A>T (p.Thr846Ser)
c.1525A>T (p.Thr509Ser)
 gnomAD v4
12g.101761727T>CCA386296436GNPTABc.2752A>G (p.Thr918Ala)
c.2671A>G (p.Thr891Ala)
c.2536A>G (p.Thr846Ala)
c.1525A>G (p.Thr509Ala)
12g.101761727T>GCA386296437GNPTABc.2752A>C (p.Thr918Pro)
c.2671A>C (p.Thr891Pro)
c.2536A>C (p.Thr846Pro)
c.1525A>C (p.Thr509Pro)
12g.101761729_101761735delCA912973312GNPTABc.2746_2752del (p.Tyr916LeufsTer10)
c.2665_2671del (p.Tyr889LeufsTer10)
c.2530_2536del (p.Tyr844LeufsTer10)
c.1519_1525del (p.Tyr507LeufsTer10)
12g.101761728G>ACA481576838GNPTABc.2751C>T (p.Phe917=)
c.2670C>T (p.Phe890=)
c.2535C>T (p.Phe845=)
c.1524C>T (p.Phe508=)
 gnomAD v4
12g.101761728G>CCA386296438GNPTABc.2751C>G (p.Phe917Leu)
c.2670C>G (p.Phe890Leu)
c.2535C>G (p.Phe845Leu)
c.1524C>G (p.Phe508Leu)
12g.101761728G>TCA386296439GNPTABc.2751C>A (p.Phe917Leu)
c.2670C>A (p.Phe890Leu)
c.2535C>A (p.Phe845Leu)
c.1524C>A (p.Phe508Leu)
12g.101761728_101761734delinsGAAGTATCA2058953212GNPTABc.2745_2751delinsATACTTC (p.Ala915=)
c.2664_2670delinsATACTTC (p.Ala888=)
c.2529_2535delinsATACTTC (p.Ala843=)
c.1518_1524delinsATACTTC (p.Ala506=)
12g.101761729A>CCA386296440GNPTABc.2750T>G (p.Phe917Cys)
c.2669T>G (p.Phe890Cys)
c.2534T>G (p.Phe845Cys)
c.1523T>G (p.Phe508Cys)
12g.101761729A>GCA386296441GNPTABc.2750T>C (p.Phe917Ser)
c.2669T>C (p.Phe890Ser)
c.2534T>C (p.Phe845Ser)
c.1523T>C (p.Phe508Ser)
12g.101761729A>TCA386296442GNPTABc.2750T>A (p.Phe917Tyr)
c.2669T>A (p.Phe890Tyr)
c.2534T>A (p.Phe845Tyr)
c.1523T>A (p.Phe508Tyr)
12g.101761729_101761734delCA607597811GNPTABc.2745_2750del (p.Tyr916_Phe917del)
c.2664_2669del (p.Tyr889_Phe890del)
c.2529_2534del (p.Tyr844_Phe845del)
c.1518_1523del (p.Tyr507_Phe508del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101761730A>CCA386296445GNPTABc.2749T>G (p.Phe917Val)
c.2668T>G (p.Phe890Val)
c.2533T>G (p.Phe845Val)
c.1522T>G (p.Phe508Val)
12g.101761730A>GCA386296444GNPTABc.2749T>C (p.Phe917Leu)
c.2668T>C (p.Phe890Leu)
c.2533T>C (p.Phe845Leu)
c.1522T>C (p.Phe508Leu)
12g.101761730A>TCA386296443GNPTABc.2749T>A (p.Phe917Ile)
c.2668T>A (p.Phe890Ile)
c.2533T>A (p.Phe845Ile)
c.1522T>A (p.Phe508Ile)
12g.101761731G>ACA6746350GNPTABc.2748C>T (p.Tyr916=)
c.2667C>T (p.Tyr889=)
c.2532C>T (p.Tyr844=)
c.1521C>T (p.Tyr507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761731G>CCA386296446GNPTABc.2748C>G (p.Tyr916Ter)
c.2667C>G (p.Tyr889Ter)
c.2532C>G (p.Tyr844Ter)
c.1521C>G (p.Tyr507Ter)
 ClinVar
12g.101761731G=CA2058953221GNPTABc.2748C= (p.Tyr916=)
c.2667C= (p.Tyr889=)
c.2532C= (p.Tyr844=)
c.1521C= (p.Tyr507=)
12g.101761731G>TCA386296447GNPTABc.2748C>A (p.Tyr916Ter)
c.2667C>A (p.Tyr889Ter)
c.2532C>A (p.Tyr844Ter)
c.1521C>A (p.Tyr507Ter)
 gnomAD v4
12g.101761732T>ACA386296448GNPTABc.2747A>T (p.Tyr916Phe)
c.2666A>T (p.Tyr889Phe)
c.2531A>T (p.Tyr844Phe)
c.1520A>T (p.Tyr507Phe)
12g.101761732T>CCA386296449GNPTABc.2747A>G (p.Tyr916Cys)
c.2666A>G (p.Tyr889Cys)
c.2531A>G (p.Tyr844Cys)
c.1520A>G (p.Tyr507Cys)
 COSMIC
12g.101761732T>GCA386296450GNPTABc.2747A>C (p.Tyr916Ser)
c.2666A>C (p.Tyr889Ser)
c.2531A>C (p.Tyr844Ser)
c.1520A>C (p.Tyr507Ser)
12g.101761733A>CCA386296451GNPTABc.2746T>G (p.Tyr916Asp)
c.2665T>G (p.Tyr889Asp)
c.2530T>G (p.Tyr844Asp)
c.1519T>G (p.Tyr507Asp)
12g.101761733A>GCA386296452GNPTABc.2746T>C (p.Tyr916His)
c.2665T>C (p.Tyr889His)
c.2530T>C (p.Tyr844His)
c.1519T>C (p.Tyr507His)
12g.101761733A>TCA386296453GNPTABc.2746T>A (p.Tyr916Asn)
c.2665T>A (p.Tyr889Asn)
c.2530T>A (p.Tyr844Asn)
c.1519T>A (p.Tyr507Asn)
12g.101761734T>ACA481576839GNPTABc.2745A>T (p.Ala915=)
c.2664A>T (p.Ala888=)
c.2529A>T (p.Ala843=)
c.1518A>T (p.Ala506=)
12g.101761734T>CCA481576840GNPTABc.2745A>G (p.Ala915=)
c.2664A>G (p.Ala888=)
c.2529A>G (p.Ala843=)
c.1518A>G (p.Ala506=)
 gnomAD v4
12g.101761734T>GCA481576841GNPTABc.2745A>C (p.Ala915=)
c.2664A>C (p.Ala888=)
c.2529A>C (p.Ala843=)
c.1518A>C (p.Ala506=)
12g.101761735G>ACA386296454GNPTABc.2744C>T (p.Ala915Val)
c.2663C>T (p.Ala888Val)
c.2528C>T (p.Ala843Val)
c.1517C>T (p.Ala506Val)
12g.101761735G>CCA386296455GNPTABc.2744C>G (p.Ala915Gly)
c.2663C>G (p.Ala888Gly)
c.2528C>G (p.Ala843Gly)
c.1517C>G (p.Ala506Gly)
12g.101761735G>TCA386296456GNPTABc.2744C>A (p.Ala915Glu)
c.2663C>A (p.Ala888Glu)
c.2528C>A (p.Ala843Glu)
c.1517C>A (p.Ala506Glu)
12g.101761736C>ACA386296459GNPTABc.2743G>T (p.Ala915Ser)
c.2662G>T (p.Ala888Ser)
c.2527G>T (p.Ala843Ser)
c.1516G>T (p.Ala506Ser)
12g.101761736C>GCA386296458GNPTABc.2743G>C (p.Ala915Pro)
c.2662G>C (p.Ala888Pro)
c.2527G>C (p.Ala843Pro)
c.1516G>C (p.Ala506Pro)
12g.101761736C>TCA386296457GNPTABc.2743G>A (p.Ala915Thr)
c.2662G>A (p.Ala888Thr)
c.2527G>A (p.Ala843Thr)
c.1516G>A (p.Ala506Thr)
12g.101761737C>ACA386296460GNPTABc.2742G>T (p.Leu914Phe)
c.2661G>T (p.Leu887Phe)
c.2526G>T (p.Leu842Phe)
c.1515G>T (p.Leu505Phe)
12g.101761737C>GCA386296461GNPTABc.2742G>C (p.Leu914Phe)
c.2661G>C (p.Leu887Phe)
c.2526G>C (p.Leu842Phe)
c.1515G>C (p.Leu505Phe)
12g.101761737C>TCA481576843GNPTABc.2742G>A (p.Leu914=)
c.2661G>A (p.Leu887=)
c.2526G>A (p.Leu842=)
c.1515G>A (p.Leu505=)
 ClinVar gnomAD v4
12g.101761738A=CA2058953224GNPTABc.2741T= (p.Leu914=)
c.2660T= (p.Leu887=)
c.2525T= (p.Leu842=)
c.1514T= (p.Leu505=)
12g.101761738A>CCA386296462GNPTABc.2741T>G (p.Leu914Trp)
c.2660T>G (p.Leu887Trp)
c.2525T>G (p.Leu842Trp)
c.1514T>G (p.Leu505Trp)
12g.101761738A>GCA386296463GNPTABc.2741T>C (p.Leu914Ser)
c.2660T>C (p.Leu887Ser)
c.2525T>C (p.Leu842Ser)
c.1514T>C (p.Leu505Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.101761738A>TCA386296464GNPTABc.2741T>A (p.Leu914Ter)
c.2660T>A (p.Leu887Ter)
c.2525T>A (p.Leu842Ter)
c.1514T>A (p.Leu505Ter)
12g.101761738_101761741dupCA2620428761GNPTABc.2738_2741dup (p.Ala915IlefsTer6)
c.2657_2660dup (p.Ala888IlefsTer6)
c.2522_2525dup (p.Ala843IlefsTer6)
c.1511_1514dup (p.Ala506IlefsTer6)
 gnomAD v4
12g.101761739A>CCA386296465GNPTABc.2740T>G (p.Leu914Val)
c.2659T>G (p.Leu887Val)
c.2524T>G (p.Leu842Val)
c.1513T>G (p.Leu505Val)
12g.101761739A>GCA481576844GNPTABc.2740T>C (p.Leu914=)
c.2659T>C (p.Leu887=)
c.2524T>C (p.Leu842=)
c.1513T>C (p.Leu505=)
 ClinVar dbSNP gnomAD v4
12g.101761739A>TCA386296466GNPTABc.2740T>A (p.Leu914Met)
c.2659T>A (p.Leu887Met)
c.2524T>A (p.Leu842Met)
c.1513T>A (p.Leu505Met)
12g.101761740T>ACA386296467GNPTABc.2739A>T (p.Gln913His)
c.2658A>T (p.Gln886His)
c.2523A>T (p.Gln841His)
c.1512A>T (p.Gln504His)
12g.101761740T>CCA481576845GNPTABc.2739A>G (p.Gln913=)
c.2658A>G (p.Gln886=)
c.2523A>G (p.Gln841=)
c.1512A>G (p.Gln504=)
12g.101761740T>GCA386296468GNPTABc.2739A>C (p.Gln913His)
c.2658A>C (p.Gln886His)
c.2523A>C (p.Gln841His)
c.1512A>C (p.Gln504His)
12g.101761741T>ACA386296469GNPTABc.2738A>T (p.Gln913Leu)
c.2657A>T (p.Gln886Leu)
c.2522A>T (p.Gln841Leu)
c.1511A>T (p.Gln504Leu)
12g.101761741T>CCA386296470GNPTABc.2738A>G (p.Gln913Arg)
c.2657A>G (p.Gln886Arg)
c.2522A>G (p.Gln841Arg)
c.1511A>G (p.Gln504Arg)
12g.101761741T>GCA386296471GNPTABc.2738A>C (p.Gln913Pro)
c.2657A>C (p.Gln886Pro)
c.2522A>C (p.Gln841Pro)
c.1511A>C (p.Gln504Pro)
12g.101761744_101761745delCA2580616842GNPTABc.2737_2738del (p.Gln913IlefsTer6)
c.2656_2657del (p.Gln886IlefsTer6)
c.2521_2522del (p.Gln841IlefsTer6)
c.1510_1511del (p.Gln504IlefsTer6)
 ClinVar dbSNP gnomAD v4
12g.101761742G>ACA386296474GNPTABc.2737C>T (p.Gln913Ter)
c.2656C>T (p.Gln886Ter)
c.2521C>T (p.Gln841Ter)
c.1510C>T (p.Gln504Ter)
 ClinVar
12g.101761742G>CCA386296472GNPTABc.2737C>G (p.Gln913Glu)
c.2656C>G (p.Gln886Glu)
c.2521C>G (p.Gln841Glu)
c.1510C>G (p.Gln504Glu)
 gnomAD v4
12g.101761742G>TCA386296473GNPTABc.2737C>A (p.Gln913Lys)
c.2656C>A (p.Gln886Lys)
c.2521C>A (p.Gln841Lys)
c.1510C>A (p.Gln504Lys)
12g.101761743T>ACA481576846GNPTABc.2736A>T (p.Thr912=)
c.2655A>T (p.Thr885=)
c.2520A>T (p.Thr840=)
c.1509A>T (p.Thr503=)
12g.101761743T>CCA481576847GNPTABc.2736A>G (p.Thr912=)
c.2655A>G (p.Thr885=)
c.2520A>G (p.Thr840=)
c.1509A>G (p.Thr503=)
12g.101761743T>GCA481576848GNPTABc.2736A>C (p.Thr912=)
c.2655A>C (p.Thr885=)
c.2520A>C (p.Thr840=)
c.1509A>C (p.Thr503=)
 gnomAD v4
12g.101761744G>ACA386296475GNPTABc.2735C>T (p.Thr912Ile)
c.2654C>T (p.Thr885Ile)
c.2519C>T (p.Thr840Ile)
c.1508C>T (p.Thr503Ile)
12g.101761744G>CCA386296476GNPTABc.2735C>G (p.Thr912Arg)
c.2654C>G (p.Thr885Arg)
c.2519C>G (p.Thr840Arg)
c.1508C>G (p.Thr503Arg)
12g.101761744G>TCA386296477GNPTABc.2735C>A (p.Thr912Lys)
c.2654C>A (p.Thr885Lys)
c.2519C>A (p.Thr840Lys)
c.1508C>A (p.Thr503Lys)
 gnomAD v4
12g.101761745T>ACA386296478GNPTABc.2734A>T (p.Thr912Ser)
c.2653A>T (p.Thr885Ser)
c.2518A>T (p.Thr840Ser)
c.1507A>T (p.Thr503Ser)
12g.101761745T>CCA6746351GNPTABc.2734A>G (p.Thr912Ala)
c.2653A>G (p.Thr885Ala)
c.2518A>G (p.Thr840Ala)
c.1507A>G (p.Thr503Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761745T>GCA386296479GNPTABc.2734A>C (p.Thr912Pro)
c.2653A>C (p.Thr885Pro)
c.2518A>C (p.Thr840Pro)
c.1507A>C (p.Thr503Pro)
12g.101761745T=CA2058953229GNPTABc.2734A= (p.Thr912=)
c.2653A= (p.Thr885=)
c.2518A= (p.Thr840=)
c.1507A= (p.Thr503=)
12g.101761746_101761752delCA912973313GNPTABc.2728_2734del (p.Leu910HisfsTer16)
c.2647_2653del (p.Leu883HisfsTer16)
c.2512_2518del (p.Leu838HisfsTer16)
c.1501_1507del (p.Leu501HisfsTer16)
12g.101761746C>ACA386296480GNPTABc.2733G>T (p.Lys911Asn)
c.2652G>T (p.Lys884Asn)
c.2517G>T (p.Lys839Asn)
c.1506G>T (p.Lys502Asn)
12g.101761746C>GCA386296481GNPTABc.2733G>C (p.Lys911Asn)
c.2652G>C (p.Lys884Asn)
c.2517G>C (p.Lys839Asn)
c.1506G>C (p.Lys502Asn)
12g.101761746C>TCA481576849GNPTABc.2733G>A (p.Lys911=)
c.2652G>A (p.Lys884=)
c.2517G>A (p.Lys839=)
c.1506G>A (p.Lys502=)
12g.101761746_101761752delinsCTTCAATCA2058953233GNPTABc.2727_2733delinsATTGAAG (p.Ser909=)
c.2646_2652delinsATTGAAG (p.Ser882=)
c.2511_2517delinsATTGAAG (p.Ser837=)
c.1500_1506delinsATTGAAG (p.Ser500=)

Number of alleles fetched