Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.114402748T>CCA2691343827WHRNc.1074A>G (n.1074A>G)
c.*6A>G (n.*6A>G)
c.1703A>G
n.2611A>G
 gnomAD v4
9g.114402749_114402754dupCA2579434552WHRNc.1068_1073dup (n.1068_1073dup)
c.2724_*5dup (n.2724_*5dup)
c.1697_1702dup
n.2605_2610dup
c.1575_*5dup (n.1575_*5dup)
c.1671_*5dup (n.1671_*5dup)
c.2721_*5dup (n.2721_*5dup)
c.2061_*5dup (n.2061_*5dup)
c.2757_*5dup (n.2757_*5dup)
c.2754_*5dup (n.2754_*5dup)
c.2631_*5dup (n.2631_*5dup)
c.2514_*5dup (n.2514_*5dup)
c.1434_*5dup (n.1434_*5dup)
9g.114402750G=CA1873825315WHRNc.1072C= (n.1072C=)
c.*4C= (n.*4C=)
c.1701C=
n.2609C=
9g.114402750G>TCA590141140WHRNc.1072C>A (n.1072C>A)
c.*4C>A (n.*4C>A)
c.1701C>A
n.2609C>A
 dbSNP gnomAD v2 gnomAD v4
9g.114402751C>ACA590141141WHRNc.1071G>T (n.1071G>T)
c.*3G>T (n.*3G>T)
c.1700G>T
n.2608G>T
 dbSNP gnomAD v2 gnomAD v4
9g.114402751C=CA1873825316WHRNc.1071G= (n.1071G=)
c.*3G= (n.*3G=)
c.1700G=
n.2608G=
9g.114402751C>TCA858984685WHRNc.1071G>A (n.1071G>A)
c.*3G>A (n.*3G>A)
c.1700G>A
n.2608G>A
 dbSNP
9g.114402752C=CA1873825317WHRNc.1070G= (n.1070G=)
c.*2G= (n.*2G=)
c.1699G=
n.2607G=
9g.114402752C>TCA5205547WHRNc.1070G>A (n.1070G>A)
c.*2G>A (n.*2G>A)
c.1699G>A
n.2607G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402753T>GCA590141143WHRNc.1069A>C (n.1069A>C)
c.*1A>C (n.*1A>C)
c.1698A>C
n.2606A>C
 dbSNP gnomAD v2 gnomAD v4
9g.114402753T=CA1873825318WHRNc.1069A= (n.1069A=)
c.*1A= (n.*1A=)
c.1698A=
n.2606A=
9g.114402754C>ACA374618722WHRNc.1068G>T (p.Ter356Tyr)
c.2724G>T (p.Ter908Tyr)
c.1697G>T
n.2605G>T
c.1575G>T (p.Ter525Tyr)
c.1671G>T (p.Ter557Tyr)
c.2721G>T (p.Ter907Tyr)
c.2061G>T (p.Ter687Tyr)
c.2757G>T (p.Ter919Tyr)
c.2754G>T (p.Ter918Tyr)
c.2631G>T (p.Ter877Tyr)
c.2514G>T (p.Ter838Tyr)
c.1434G>T (p.Ter478Tyr)
9g.114402754C>GCA374618721WHRNc.1068G>C (p.Ter356Tyr)
c.2724G>C (p.Ter908Tyr)
c.1697G>C
n.2605G>C
c.1575G>C (p.Ter525Tyr)
c.1671G>C (p.Ter557Tyr)
c.2721G>C (p.Ter907Tyr)
c.2061G>C (p.Ter687Tyr)
c.2757G>C (p.Ter919Tyr)
c.2754G>C (p.Ter918Tyr)
c.2631G>C (p.Ter877Tyr)
c.2514G>C (p.Ter838Tyr)
c.1434G>C (p.Ter478Tyr)
9g.114402754C>TCA466781762WHRNc.1068G>A (p.Ter356=)
c.2724G>A (p.Ter908=)
c.1697G>A
n.2605G>A
c.1575G>A (p.Ter525=)
c.1671G>A (p.Ter557=)
c.2721G>A (p.Ter907=)
c.2061G>A (p.Ter687=)
c.2757G>A (p.Ter919=)
c.2754G>A (p.Ter918=)
c.2631G>A (p.Ter877=)
c.2514G>A (p.Ter838=)
c.1434G>A (p.Ter478=)
 gnomAD v4
9g.114402755T>ACA374618723WHRNc.1067A>T (p.Ter356Leu)
c.2723A>T (p.Ter908Leu)
c.1696A>T
n.2604A>T
c.1574A>T (p.Ter525Leu)
c.1670A>T (p.Ter557Leu)
c.2720A>T (p.Ter907Leu)
c.2060A>T (p.Ter687Leu)
c.2756A>T (p.Ter919Leu)
c.2753A>T (p.Ter918Leu)
c.2630A>T (p.Ter877Leu)
c.2513A>T (p.Ter838Leu)
c.1433A>T (p.Ter478Leu)
9g.114402755T>CCA198648734WHRNc.1067A>G (p.Ter356Trp)
c.2723A>G (p.Ter908Trp)
c.1696A>G
n.2604A>G
c.1574A>G (p.Ter525Trp)
c.1670A>G (p.Ter557Trp)
c.2720A>G (p.Ter907Trp)
c.2060A>G (p.Ter687Trp)
c.2756A>G (p.Ter919Trp)
c.2753A>G (p.Ter918Trp)
c.2630A>G (p.Ter877Trp)
c.2513A>G (p.Ter838Trp)
c.1433A>G (p.Ter478Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402755T>GCA374618724WHRNc.1067A>C (p.Ter356Ser)
c.2723A>C (p.Ter908Ser)
c.1696A>C
n.2604A>C
c.1574A>C (p.Ter525Ser)
c.1670A>C (p.Ter557Ser)
c.2720A>C (p.Ter907Ser)
c.2060A>C (p.Ter687Ser)
c.2756A>C (p.Ter919Ser)
c.2753A>C (p.Ter918Ser)
c.2630A>C (p.Ter877Ser)
c.2513A>C (p.Ter838Ser)
c.1433A>C (p.Ter478Ser)
9g.114402755T=CA1873825319WHRNc.1067A= (p.Ter356=)
c.2723A= (p.Ter908=)
c.1696A=
n.2604A=
c.1574A= (p.Ter525=)
c.1670A= (p.Ter557=)
c.2720A= (p.Ter907=)
c.2060A= (p.Ter687=)
c.2756A= (p.Ter919=)
c.2753A= (p.Ter918=)
c.2630A= (p.Ter877=)
c.2513A= (p.Ter838=)
c.1433A= (p.Ter478=)
9g.114402756A=CA1873825320WHRNc.1066T= (p.Ter356=)
c.2722T= (p.Ter908=)
c.1695T=
n.2603T=
c.1573T= (p.Ter525=)
c.1669T= (p.Ter557=)
c.2719T= (p.Ter907=)
c.2059T= (p.Ter687=)
c.2755T= (p.Ter919=)
c.2752T= (p.Ter918=)
c.2629T= (p.Ter877=)
c.2512T= (p.Ter838=)
c.1432T= (p.Ter478=)
9g.114402756A>CCA374618725WHRNc.1066T>G (p.Ter356Glu)
c.2722T>G (p.Ter908Glu)
c.1695T>G
n.2603T>G
c.1573T>G (p.Ter525Glu)
c.1669T>G (p.Ter557Glu)
c.2719T>G (p.Ter907Glu)
c.2059T>G (p.Ter687Glu)
c.2755T>G (p.Ter919Glu)
c.2752T>G (p.Ter918Glu)
c.2629T>G (p.Ter877Glu)
c.2512T>G (p.Ter838Glu)
c.1432T>G (p.Ter478Glu)
9g.114402756A>GCA185551WHRNc.1066T>C (p.Ter356Gln)
c.2722T>C (p.Ter908Gln)
c.1695T>C
n.2603T>C
c.1573T>C (p.Ter525Gln)
c.1669T>C (p.Ter557Gln)
c.2719T>C (p.Ter907Gln)
c.2059T>C (p.Ter687Gln)
c.2755T>C (p.Ter919Gln)
c.2752T>C (p.Ter918Gln)
c.2629T>C (p.Ter877Gln)
c.2512T>C (p.Ter838Gln)
c.1432T>C (p.Ter478Gln)
 ClinVar dbSNP gnomAD v4
9g.114402756A>TCA374618726WHRNc.1066T>A (p.Ter356Lys)
c.2722T>A (p.Ter908Lys)
c.1695T>A
n.2603T>A
c.1573T>A (p.Ter525Lys)
c.1669T>A (p.Ter557Lys)
c.2719T>A (p.Ter907Lys)
c.2059T>A (p.Ter687Lys)
c.2755T>A (p.Ter919Lys)
c.2752T>A (p.Ter918Lys)
c.2629T>A (p.Ter877Lys)
c.2512T>A (p.Ter838Lys)
c.1432T>A (p.Ter478Lys)
9g.114402757G>ACA466781765WHRNc.1065C>T (p.Leu355=)
c.2721C>T (p.Leu907=)
c.1694C>T
n.2602C>T
c.1572C>T (p.Leu524=)
c.1668C>T (p.Leu556=)
c.2718C>T (p.Leu906=)
c.2058C>T (p.Leu686=)
c.2754C>T (p.Leu918=)
c.2751C>T (p.Leu917=)
c.2628C>T (p.Leu876=)
c.2511C>T (p.Leu837=)
c.1431C>T (p.Leu477=)
9g.114402757G>CCA466781763WHRNc.1065C>G (p.Leu355=)
c.2721C>G (p.Leu907=)
c.1694C>G
n.2602C>G
c.1572C>G (p.Leu524=)
c.1668C>G (p.Leu556=)
c.2718C>G (p.Leu906=)
c.2058C>G (p.Leu686=)
c.2754C>G (p.Leu918=)
c.2751C>G (p.Leu917=)
c.2628C>G (p.Leu876=)
c.2511C>G (p.Leu837=)
c.1431C>G (p.Leu477=)
 dbSNP
9g.114402757G=CA1873825321WHRNc.1065C= (p.Leu355=)
c.2721C= (p.Leu907=)
c.1694C=
n.2602C=
c.1572C= (p.Leu524=)
c.1668C= (p.Leu556=)
c.2718C= (p.Leu906=)
c.2058C= (p.Leu686=)
c.2754C= (p.Leu918=)
c.2751C= (p.Leu917=)
c.2628C= (p.Leu876=)
c.2511C= (p.Leu837=)
c.1431C= (p.Leu477=)
9g.114402757G>TCA466781764WHRNc.1065C>A (p.Leu355=)
c.2721C>A (p.Leu907=)
c.1694C>A
n.2602C>A
c.1572C>A (p.Leu524=)
c.1668C>A (p.Leu556=)
c.2718C>A (p.Leu906=)
c.2058C>A (p.Leu686=)
c.2754C>A (p.Leu918=)
c.2751C>A (p.Leu917=)
c.2628C>A (p.Leu876=)
c.2511C>A (p.Leu837=)
c.1431C>A (p.Leu477=)
9g.114402758A>CCA374618727WHRNc.1064T>G (p.Leu355Arg)
c.2720T>G (p.Leu907Arg)
c.1693T>G
n.2601T>G
c.1571T>G (p.Leu524Arg)
c.1667T>G (p.Leu556Arg)
c.2717T>G (p.Leu906Arg)
c.2057T>G (p.Leu686Arg)
c.2753T>G (p.Leu918Arg)
c.2750T>G (p.Leu917Arg)
c.2627T>G (p.Leu876Arg)
c.2510T>G (p.Leu837Arg)
c.1430T>G (p.Leu477Arg)
9g.114402758A>GCA374618728WHRNc.1064T>C (p.Leu355Pro)
c.2720T>C (p.Leu907Pro)
c.1693T>C
n.2601T>C
c.1571T>C (p.Leu524Pro)
c.1667T>C (p.Leu556Pro)
c.2717T>C (p.Leu906Pro)
c.2057T>C (p.Leu686Pro)
c.2753T>C (p.Leu918Pro)
c.2750T>C (p.Leu917Pro)
c.2627T>C (p.Leu876Pro)
c.2510T>C (p.Leu837Pro)
c.1430T>C (p.Leu477Pro)
 gnomAD v4
9g.114402758A>TCA374618729WHRNc.1064T>A (p.Leu355His)
c.2720T>A (p.Leu907His)
c.1693T>A
n.2601T>A
c.1571T>A (p.Leu524His)
c.1667T>A (p.Leu556His)
c.2717T>A (p.Leu906His)
c.2057T>A (p.Leu686His)
c.2753T>A (p.Leu918His)
c.2750T>A (p.Leu917His)
c.2627T>A (p.Leu876His)
c.2510T>A (p.Leu837His)
c.1430T>A (p.Leu477His)
9g.114402759G>ACA374618730WHRNc.1063C>T (p.Leu355Phe)
c.2719C>T (p.Leu907Phe)
c.1692C>T
n.2600C>T
c.1570C>T (p.Leu524Phe)
c.1666C>T (p.Leu556Phe)
c.2716C>T (p.Leu906Phe)
c.2056C>T (p.Leu686Phe)
c.2752C>T (p.Leu918Phe)
c.2749C>T (p.Leu917Phe)
c.2626C>T (p.Leu876Phe)
c.2509C>T (p.Leu837Phe)
c.1429C>T (p.Leu477Phe)
 gnomAD v4
9g.114402759G>CCA374618731WHRNc.1063C>G (p.Leu355Val)
c.2719C>G (p.Leu907Val)
c.1692C>G
n.2600C>G
c.1570C>G (p.Leu524Val)
c.1666C>G (p.Leu556Val)
c.2716C>G (p.Leu906Val)
c.2056C>G (p.Leu686Val)
c.2752C>G (p.Leu918Val)
c.2749C>G (p.Leu917Val)
c.2626C>G (p.Leu876Val)
c.2509C>G (p.Leu837Val)
c.1429C>G (p.Leu477Val)
9g.114402759G=CA1873825322WHRNc.1063C= (p.Leu355=)
c.2719C= (p.Leu907=)
c.1692C=
n.2600C=
c.1570C= (p.Leu524=)
c.1666C= (p.Leu556=)
c.2716C= (p.Leu906=)
c.2056C= (p.Leu686=)
c.2752C= (p.Leu918=)
c.2749C= (p.Leu917=)
c.2626C= (p.Leu876=)
c.2509C= (p.Leu837=)
c.1429C= (p.Leu477=)
9g.114402759G>TCA374618732WHRNc.1063C>A (p.Leu355Ile)
c.2719C>A (p.Leu907Ile)
c.1692C>A
n.2600C>A
c.1570C>A (p.Leu524Ile)
c.1666C>A (p.Leu556Ile)
c.2716C>A (p.Leu906Ile)
c.2056C>A (p.Leu686Ile)
c.2752C>A (p.Leu918Ile)
c.2749C>A (p.Leu917Ile)
c.2626C>A (p.Leu876Ile)
c.2509C>A (p.Leu837Ile)
c.1429C>A (p.Leu477Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.114402760C>ACA374618734WHRNc.1062G>T (p.Met354Ile)
c.2718G>T (p.Met906Ile)
c.1691G>T
n.2599G>T
c.1569G>T (p.Met523Ile)
c.1665G>T (p.Met555Ile)
c.2715G>T (p.Met905Ile)
c.2055G>T (p.Met685Ile)
c.2751G>T (p.Met917Ile)
c.2748G>T (p.Met916Ile)
c.2625G>T (p.Met875Ile)
c.2508G>T (p.Met836Ile)
c.1428G>T (p.Met476Ile)
9g.114402760C=CA1873825323WHRNc.1062G= (p.Met354=)
c.2718G= (p.Met906=)
c.1691G=
n.2599G=
c.1569G= (p.Met523=)
c.1665G= (p.Met555=)
c.2715G= (p.Met905=)
c.2055G= (p.Met685=)
c.2751G= (p.Met917=)
c.2748G= (p.Met916=)
c.2625G= (p.Met875=)
c.2508G= (p.Met836=)
c.1428G= (p.Met476=)
9g.114402760C>GCA374618733WHRNc.1062G>C (p.Met354Ile)
c.2718G>C (p.Met906Ile)
c.1691G>C
n.2599G>C
c.1569G>C (p.Met523Ile)
c.1665G>C (p.Met555Ile)
c.2715G>C (p.Met905Ile)
c.2055G>C (p.Met685Ile)
c.2751G>C (p.Met917Ile)
c.2748G>C (p.Met916Ile)
c.2625G>C (p.Met875Ile)
c.2508G>C (p.Met836Ile)
c.1428G>C (p.Met476Ile)
9g.114402760C>TCA5205548WHRNc.1062G>A (p.Met354Ile)
c.2718G>A (p.Met906Ile)
c.1691G>A
n.2599G>A
c.1569G>A (p.Met523Ile)
c.1665G>A (p.Met555Ile)
c.2715G>A (p.Met905Ile)
c.2055G>A (p.Met685Ile)
c.2751G>A (p.Met917Ile)
c.2748G>A (p.Met916Ile)
c.2625G>A (p.Met875Ile)
c.2508G>A (p.Met836Ile)
c.1428G>A (p.Met476Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402761A>CCA374618735WHRNc.1061T>G (p.Met354Arg)
c.2717T>G (p.Met906Arg)
c.1690T>G
n.2598T>G
c.1568T>G (p.Met523Arg)
c.1664T>G (p.Met555Arg)
c.2714T>G (p.Met905Arg)
c.2054T>G (p.Met685Arg)
c.2750T>G (p.Met917Arg)
c.2747T>G (p.Met916Arg)
c.2624T>G (p.Met875Arg)
c.2507T>G (p.Met836Arg)
c.1427T>G (p.Met476Arg)
9g.114402761A>GCA374618737WHRNc.1061T>C (p.Met354Thr)
c.2717T>C (p.Met906Thr)
c.1690T>C
n.2598T>C
c.1568T>C (p.Met523Thr)
c.1664T>C (p.Met555Thr)
c.2714T>C (p.Met905Thr)
c.2054T>C (p.Met685Thr)
c.2750T>C (p.Met917Thr)
c.2747T>C (p.Met916Thr)
c.2624T>C (p.Met875Thr)
c.2507T>C (p.Met836Thr)
c.1427T>C (p.Met476Thr)
9g.114402761A>TCA374618736WHRNc.1061T>A (p.Met354Lys)
c.2717T>A (p.Met906Lys)
c.1690T>A
n.2598T>A
c.1568T>A (p.Met523Lys)
c.1664T>A (p.Met555Lys)
c.2714T>A (p.Met905Lys)
c.2054T>A (p.Met685Lys)
c.2750T>A (p.Met917Lys)
c.2747T>A (p.Met916Lys)
c.2624T>A (p.Met875Lys)
c.2507T>A (p.Met836Lys)
c.1427T>A (p.Met476Lys)
9g.114402762T>ACA374618738WHRNc.1060A>T (p.Met354Leu)
c.2716A>T (p.Met906Leu)
c.1689A>T
n.2597A>T
c.1567A>T (p.Met523Leu)
c.1663A>T (p.Met555Leu)
c.2713A>T (p.Met905Leu)
c.2053A>T (p.Met685Leu)
c.2749A>T (p.Met917Leu)
c.2746A>T (p.Met916Leu)
c.2623A>T (p.Met875Leu)
c.2506A>T (p.Met836Leu)
c.1426A>T (p.Met476Leu)
9g.114402762T>CCA374618739WHRNc.1060A>G (p.Met354Val)
c.2716A>G (p.Met906Val)
c.1689A>G
n.2597A>G
c.1567A>G (p.Met523Val)
c.1663A>G (p.Met555Val)
c.2713A>G (p.Met905Val)
c.2053A>G (p.Met685Val)
c.2749A>G (p.Met917Val)
c.2746A>G (p.Met916Val)
c.2623A>G (p.Met875Val)
c.2506A>G (p.Met836Val)
c.1426A>G (p.Met476Val)
9g.114402762T>GCA374618740WHRNc.1060A>C (p.Met354Leu)
c.2716A>C (p.Met906Leu)
c.1689A>C
n.2597A>C
c.1567A>C (p.Met523Leu)
c.1663A>C (p.Met555Leu)
c.2713A>C (p.Met905Leu)
c.2053A>C (p.Met685Leu)
c.2749A>C (p.Met917Leu)
c.2746A>C (p.Met916Leu)
c.2623A>C (p.Met875Leu)
c.2506A>C (p.Met836Leu)
c.1426A>C (p.Met476Leu)
9g.114402763C>ACA466781768WHRNc.1059G>T (p.Val353=)
c.2715G>T (p.Val905=)
c.1688G>T
n.2596G>T
c.1566G>T (p.Val522=)
c.1662G>T (p.Val554=)
c.2712G>T (p.Val904=)
c.2052G>T (p.Val684=)
c.2748G>T (p.Val916=)
c.2745G>T (p.Val915=)
c.2622G>T (p.Val874=)
c.2505G>T (p.Val835=)
c.1425G>T (p.Val475=)
9g.114402763C>GCA466781767WHRNc.1059G>C (p.Val353=)
c.2715G>C (p.Val905=)
c.1688G>C
n.2596G>C
c.1566G>C (p.Val522=)
c.1662G>C (p.Val554=)
c.2712G>C (p.Val904=)
c.2052G>C (p.Val684=)
c.2748G>C (p.Val916=)
c.2745G>C (p.Val915=)
c.2622G>C (p.Val874=)
c.2505G>C (p.Val835=)
c.1425G>C (p.Val475=)
9g.114402763C>TCA466781769WHRNc.1059G>A (p.Val353=)
c.2715G>A (p.Val905=)
c.1688G>A
n.2596G>A
c.1566G>A (p.Val522=)
c.1662G>A (p.Val554=)
c.2712G>A (p.Val904=)
c.2052G>A (p.Val684=)
c.2748G>A (p.Val916=)
c.2745G>A (p.Val915=)
c.2622G>A (p.Val874=)
c.2505G>A (p.Val835=)
c.1425G>A (p.Val475=)
9g.114402764A>CCA374618741WHRNc.1058T>G (p.Val353Gly)
c.2714T>G (p.Val905Gly)
c.1687T>G
n.2595T>G
c.1565T>G (p.Val522Gly)
c.1661T>G (p.Val554Gly)
c.2711T>G (p.Val904Gly)
c.2051T>G (p.Val684Gly)
c.2747T>G (p.Val916Gly)
c.2744T>G (p.Val915Gly)
c.2621T>G (p.Val874Gly)
c.2504T>G (p.Val835Gly)
c.1424T>G (p.Val475Gly)
9g.114402764A>GCA374618742WHRNc.1058T>C (p.Val353Ala)
c.2714T>C (p.Val905Ala)
c.1687T>C
n.2595T>C
c.1565T>C (p.Val522Ala)
c.1661T>C (p.Val554Ala)
c.2711T>C (p.Val904Ala)
c.2051T>C (p.Val684Ala)
c.2747T>C (p.Val916Ala)
c.2744T>C (p.Val915Ala)
c.2621T>C (p.Val874Ala)
c.2504T>C (p.Val835Ala)
c.1424T>C (p.Val475Ala)
9g.114402764A>TCA374618743WHRNc.1058T>A (p.Val353Glu)
c.2714T>A (p.Val905Glu)
c.1687T>A
n.2595T>A
c.1565T>A (p.Val522Glu)
c.1661T>A (p.Val554Glu)
c.2711T>A (p.Val904Glu)
c.2051T>A (p.Val684Glu)
c.2747T>A (p.Val916Glu)
c.2744T>A (p.Val915Glu)
c.2621T>A (p.Val874Glu)
c.2504T>A (p.Val835Glu)
c.1424T>A (p.Val475Glu)
9g.114402765C>ACA374618744WHRNc.1057G>T (p.Val353Leu)
c.2713G>T (p.Val905Leu)
c.1686G>T
n.2594G>T
c.1564G>T (p.Val522Leu)
c.1660G>T (p.Val554Leu)
c.2710G>T (p.Val904Leu)
c.2050G>T (p.Val684Leu)
c.2746G>T (p.Val916Leu)
c.2743G>T (p.Val915Leu)
c.2620G>T (p.Val874Leu)
c.2503G>T (p.Val835Leu)
c.1423G>T (p.Val475Leu)
9g.114402765C>GCA374618745WHRNc.1057G>C (p.Val353Leu)
c.2713G>C (p.Val905Leu)
c.1686G>C
n.2594G>C
c.1564G>C (p.Val522Leu)
c.1660G>C (p.Val554Leu)
c.2710G>C (p.Val904Leu)
c.2050G>C (p.Val684Leu)
c.2746G>C (p.Val916Leu)
c.2743G>C (p.Val915Leu)
c.2620G>C (p.Val874Leu)
c.2503G>C (p.Val835Leu)
c.1423G>C (p.Val475Leu)
9g.114402765C>TCA374618746WHRNc.1057G>A (p.Val353Met)
c.2713G>A (p.Val905Met)
c.1686G>A
n.2594G>A
c.1564G>A (p.Val522Met)
c.1660G>A (p.Val554Met)
c.2710G>A (p.Val904Met)
c.2050G>A (p.Val684Met)
c.2746G>A (p.Val916Met)
c.2743G>A (p.Val915Met)
c.2620G>A (p.Val874Met)
c.2503G>A (p.Val835Met)
c.1423G>A (p.Val475Met)
9g.114402766A>CCA374618747WHRNc.1056T>G (p.Asn352Lys)
c.2712T>G (p.Asn904Lys)
c.1685T>G
n.2593T>G
c.1563T>G (p.Asn521Lys)
c.1659T>G (p.Asn553Lys)
c.2709T>G (p.Asn903Lys)
c.2049T>G (p.Asn683Lys)
c.2745T>G (p.Asn915Lys)
c.2742T>G (p.Asn914Lys)
c.2619T>G (p.Asn873Lys)
c.2502T>G (p.Asn834Lys)
c.1422T>G (p.Asn474Lys)
9g.114402766A>GCA466781771WHRNc.1056T>C (p.Asn352=)
c.2712T>C (p.Asn904=)
c.1685T>C
n.2593T>C
c.1563T>C (p.Asn521=)
c.1659T>C (p.Asn553=)
c.2709T>C (p.Asn903=)
c.2049T>C (p.Asn683=)
c.2745T>C (p.Asn915=)
c.2742T>C (p.Asn914=)
c.2619T>C (p.Asn873=)
c.2502T>C (p.Asn834=)
c.1422T>C (p.Asn474=)
9g.114402766A>TCA374618748WHRNc.1056T>A (p.Asn352Lys)
c.2712T>A (p.Asn904Lys)
c.1685T>A
n.2593T>A
c.1563T>A (p.Asn521Lys)
c.1659T>A (p.Asn553Lys)
c.2709T>A (p.Asn903Lys)
c.2049T>A (p.Asn683Lys)
c.2745T>A (p.Asn915Lys)
c.2742T>A (p.Asn914Lys)
c.2619T>A (p.Asn873Lys)
c.2502T>A (p.Asn834Lys)
c.1422T>A (p.Asn474Lys)
9g.114402767T>ACA374618751WHRNc.1055A>T (p.Asn352Ile)
c.2711A>T (p.Asn904Ile)
c.1684A>T
n.2592A>T
c.1562A>T (p.Asn521Ile)
c.1658A>T (p.Asn553Ile)
c.2708A>T (p.Asn903Ile)
c.2048A>T (p.Asn683Ile)
c.2744A>T (p.Asn915Ile)
c.2741A>T (p.Asn914Ile)
c.2618A>T (p.Asn873Ile)
c.2501A>T (p.Asn834Ile)
c.1421A>T (p.Asn474Ile)
9g.114402767T>CCA374618749WHRNc.1055A>G (p.Asn352Ser)
c.2711A>G (p.Asn904Ser)
c.1684A>G
n.2592A>G
c.1562A>G (p.Asn521Ser)
c.1658A>G (p.Asn553Ser)
c.2708A>G (p.Asn903Ser)
c.2048A>G (p.Asn683Ser)
c.2744A>G (p.Asn915Ser)
c.2741A>G (p.Asn914Ser)
c.2618A>G (p.Asn873Ser)
c.2501A>G (p.Asn834Ser)
c.1421A>G (p.Asn474Ser)
 gnomAD v4
9g.114402767T>GCA374618750WHRNc.1055A>C (p.Asn352Thr)
c.2711A>C (p.Asn904Thr)
c.1684A>C
n.2592A>C
c.1562A>C (p.Asn521Thr)
c.1658A>C (p.Asn553Thr)
c.2708A>C (p.Asn903Thr)
c.2048A>C (p.Asn683Thr)
c.2744A>C (p.Asn915Thr)
c.2741A>C (p.Asn914Thr)
c.2618A>C (p.Asn873Thr)
c.2501A>C (p.Asn834Thr)
c.1421A>C (p.Asn474Thr)
9g.114402768T>ACA374618752WHRNc.1054A>T (p.Asn352Tyr)
c.2710A>T (p.Asn904Tyr)
c.1683A>T
n.2591A>T
c.1561A>T (p.Asn521Tyr)
c.1657A>T (p.Asn553Tyr)
c.2707A>T (p.Asn903Tyr)
c.2047A>T (p.Asn683Tyr)
c.2743A>T (p.Asn915Tyr)
c.2740A>T (p.Asn914Tyr)
c.2617A>T (p.Asn873Tyr)
c.2500A>T (p.Asn834Tyr)
c.1420A>T (p.Asn474Tyr)
9g.114402768T>CCA374618753WHRNc.1054A>G (p.Asn352Asp)
c.2710A>G (p.Asn904Asp)
c.1683A>G
n.2591A>G
c.1561A>G (p.Asn521Asp)
c.1657A>G (p.Asn553Asp)
c.2707A>G (p.Asn903Asp)
c.2047A>G (p.Asn683Asp)
c.2743A>G (p.Asn915Asp)
c.2740A>G (p.Asn914Asp)
c.2617A>G (p.Asn873Asp)
c.2500A>G (p.Asn834Asp)
c.1420A>G (p.Asn474Asp)
9g.114402768T>GCA374618754WHRNc.1054A>C (p.Asn352His)
c.2710A>C (p.Asn904His)
c.1683A>C
n.2591A>C
c.1561A>C (p.Asn521His)
c.1657A>C (p.Asn553His)
c.2707A>C (p.Asn903His)
c.2047A>C (p.Asn683His)
c.2743A>C (p.Asn915His)
c.2740A>C (p.Asn914His)
c.2617A>C (p.Asn873His)
c.2500A>C (p.Asn834His)
c.1420A>C (p.Asn474His)
9g.114402769G>ACA466781772WHRNc.1053C>T (p.Phe351=)
c.2709C>T (p.Phe903=)
c.1682C>T
n.2590C>T
c.1560C>T (p.Phe520=)
c.1656C>T (p.Phe552=)
c.2706C>T (p.Phe902=)
c.2046C>T (p.Phe682=)
c.2742C>T (p.Phe914=)
c.2739C>T (p.Phe913=)
c.2616C>T (p.Phe872=)
c.2499C>T (p.Phe833=)
c.1419C>T (p.Phe473=)
9g.114402769G>CCA374618755WHRNc.1053C>G (p.Phe351Leu)
c.2709C>G (p.Phe903Leu)
c.1682C>G
n.2590C>G
c.1560C>G (p.Phe520Leu)
c.1656C>G (p.Phe552Leu)
c.2706C>G (p.Phe902Leu)
c.2046C>G (p.Phe682Leu)
c.2742C>G (p.Phe914Leu)
c.2739C>G (p.Phe913Leu)
c.2616C>G (p.Phe872Leu)
c.2499C>G (p.Phe833Leu)
c.1419C>G (p.Phe473Leu)
9g.114402769G>TCA374618756WHRNc.1053C>A (p.Phe351Leu)
c.2709C>A (p.Phe903Leu)
c.1682C>A
n.2590C>A
c.1560C>A (p.Phe520Leu)
c.1656C>A (p.Phe552Leu)
c.2706C>A (p.Phe902Leu)
c.2046C>A (p.Phe682Leu)
c.2742C>A (p.Phe914Leu)
c.2739C>A (p.Phe913Leu)
c.2616C>A (p.Phe872Leu)
c.2499C>A (p.Phe833Leu)
c.1419C>A (p.Phe473Leu)
9g.114402770A>CCA374618757WHRNc.1052T>G (p.Phe351Cys)
c.2708T>G (p.Phe903Cys)
c.1681T>G
n.2589T>G
c.1559T>G (p.Phe520Cys)
c.1655T>G (p.Phe552Cys)
c.2705T>G (p.Phe902Cys)
c.2045T>G (p.Phe682Cys)
c.2741T>G (p.Phe914Cys)
c.2738T>G (p.Phe913Cys)
c.2615T>G (p.Phe872Cys)
c.2498T>G (p.Phe833Cys)
c.1418T>G (p.Phe473Cys)
9g.114402770A>GCA374618758WHRNc.1052T>C (p.Phe351Ser)
c.2708T>C (p.Phe903Ser)
c.1681T>C
n.2589T>C
c.1559T>C (p.Phe520Ser)
c.1655T>C (p.Phe552Ser)
c.2705T>C (p.Phe902Ser)
c.2045T>C (p.Phe682Ser)
c.2741T>C (p.Phe914Ser)
c.2738T>C (p.Phe913Ser)
c.2615T>C (p.Phe872Ser)
c.2498T>C (p.Phe833Ser)
c.1418T>C (p.Phe473Ser)
9g.114402770A>TCA374618759WHRNc.1052T>A (p.Phe351Tyr)
c.2708T>A (p.Phe903Tyr)
c.1681T>A
n.2589T>A
c.1559T>A (p.Phe520Tyr)
c.1655T>A (p.Phe552Tyr)
c.2705T>A (p.Phe902Tyr)
c.2045T>A (p.Phe682Tyr)
c.2741T>A (p.Phe914Tyr)
c.2738T>A (p.Phe913Tyr)
c.2615T>A (p.Phe872Tyr)
c.2498T>A (p.Phe833Tyr)
c.1418T>A (p.Phe473Tyr)
9g.114402771A>CCA374618760WHRNc.1051T>G (p.Phe351Val)
c.2707T>G (p.Phe903Val)
c.1680T>G
n.2588T>G
c.1558T>G (p.Phe520Val)
c.1654T>G (p.Phe552Val)
c.2704T>G (p.Phe902Val)
c.2044T>G (p.Phe682Val)
c.2740T>G (p.Phe914Val)
c.2737T>G (p.Phe913Val)
c.2614T>G (p.Phe872Val)
c.2497T>G (p.Phe833Val)
c.1417T>G (p.Phe473Val)
9g.114402771A>GCA374618761WHRNc.1051T>C (p.Phe351Leu)
c.2707T>C (p.Phe903Leu)
c.1680T>C
n.2588T>C
c.1558T>C (p.Phe520Leu)
c.1654T>C (p.Phe552Leu)
c.2704T>C (p.Phe902Leu)
c.2044T>C (p.Phe682Leu)
c.2740T>C (p.Phe914Leu)
c.2737T>C (p.Phe913Leu)
c.2614T>C (p.Phe872Leu)
c.2497T>C (p.Phe833Leu)
c.1417T>C (p.Phe473Leu)
9g.114402771A>TCA374618762WHRNc.1051T>A (p.Phe351Ile)
c.2707T>A (p.Phe903Ile)
c.1680T>A
n.2588T>A
c.1558T>A (p.Phe520Ile)
c.1654T>A (p.Phe552Ile)
c.2704T>A (p.Phe902Ile)
c.2044T>A (p.Phe682Ile)
c.2740T>A (p.Phe914Ile)
c.2737T>A (p.Phe913Ile)
c.2614T>A (p.Phe872Ile)
c.2497T>A (p.Phe833Ile)
c.1417T>A (p.Phe473Ile)
9g.114402772C>ACA374618763WHRNc.1050G>T (p.Glu350Asp)
c.2706G>T (p.Glu902Asp)
c.1679G>T
n.2587G>T
c.1557G>T (p.Glu519Asp)
c.1653G>T (p.Glu551Asp)
c.2703G>T (p.Glu901Asp)
c.2043G>T (p.Glu681Asp)
c.2739G>T (p.Glu913Asp)
c.2736G>T (p.Glu912Asp)
c.2613G>T (p.Glu871Asp)
c.2496G>T (p.Glu832Asp)
c.1416G>T (p.Glu472Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.114402772C=CA1873825324WHRNc.1050G= (p.Glu350=)
c.2706G= (p.Glu902=)
c.1679G=
n.2587G=
c.1557G= (p.Glu519=)
c.1653G= (p.Glu551=)
c.2703G= (p.Glu901=)
c.2043G= (p.Glu681=)
c.2739G= (p.Glu913=)
c.2736G= (p.Glu912=)
c.2613G= (p.Glu871=)
c.2496G= (p.Glu832=)
c.1416G= (p.Glu472=)
9g.114402772C>GCA374618764WHRNc.1050G>C (p.Glu350Asp)
c.2706G>C (p.Glu902Asp)
c.1679G>C
n.2587G>C
c.1557G>C (p.Glu519Asp)
c.1653G>C (p.Glu551Asp)
c.2703G>C (p.Glu901Asp)
c.2043G>C (p.Glu681Asp)
c.2739G>C (p.Glu913Asp)
c.2736G>C (p.Glu912Asp)
c.2613G>C (p.Glu871Asp)
c.2496G>C (p.Glu832Asp)
c.1416G>C (p.Glu472Asp)
9g.114402772C>TCA5205549WHRNc.1050G>A (p.Glu350=)
c.2706G>A (p.Glu902=)
c.1679G>A
n.2587G>A
c.1557G>A (p.Glu519=)
c.1653G>A (p.Glu551=)
c.2703G>A (p.Glu901=)
c.2043G>A (p.Glu681=)
c.2739G>A (p.Glu913=)
c.2736G>A (p.Glu912=)
c.2613G>A (p.Glu871=)
c.2496G>A (p.Glu832=)
c.1416G>A (p.Glu472=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402773T>ACA198648739WHRNc.1049A>T (p.Glu350Val)
c.2705A>T (p.Glu902Val)
c.1678A>T
n.2586A>T
c.1556A>T (p.Glu519Val)
c.1652A>T (p.Glu551Val)
c.2702A>T (p.Glu901Val)
c.2042A>T (p.Glu681Val)
c.2738A>T (p.Glu913Val)
c.2735A>T (p.Glu912Val)
c.2612A>T (p.Glu871Val)
c.2495A>T (p.Glu832Val)
c.1415A>T (p.Glu472Val)
 dbSNP gnomAD v3 gnomAD v4
9g.114402773T>CCA374618765WHRNc.1049A>G (p.Glu350Gly)
c.2705A>G (p.Glu902Gly)
c.1678A>G
n.2586A>G
c.1556A>G (p.Glu519Gly)
c.1652A>G (p.Glu551Gly)
c.2702A>G (p.Glu901Gly)
c.2042A>G (p.Glu681Gly)
c.2738A>G (p.Glu913Gly)
c.2735A>G (p.Glu912Gly)
c.2612A>G (p.Glu871Gly)
c.2495A>G (p.Glu832Gly)
c.1415A>G (p.Glu472Gly)
9g.114402773T>GCA374618766WHRNc.1049A>C (p.Glu350Ala)
c.2705A>C (p.Glu902Ala)
c.1678A>C
n.2586A>C
c.1556A>C (p.Glu519Ala)
c.1652A>C (p.Glu551Ala)
c.2702A>C (p.Glu901Ala)
c.2042A>C (p.Glu681Ala)
c.2738A>C (p.Glu913Ala)
c.2735A>C (p.Glu912Ala)
c.2612A>C (p.Glu871Ala)
c.2495A>C (p.Glu832Ala)
c.1415A>C (p.Glu472Ala)
9g.114402773T=CA1873825325WHRNc.1049A= (p.Glu350=)
c.2705A= (p.Glu902=)
c.1678A=
n.2586A=
c.1556A= (p.Glu519=)
c.1652A= (p.Glu551=)
c.2702A= (p.Glu901=)
c.2042A= (p.Glu681=)
c.2738A= (p.Glu913=)
c.2735A= (p.Glu912=)
c.2612A= (p.Glu871=)
c.2495A= (p.Glu832=)
c.1415A= (p.Glu472=)
9g.114402774C>ACA374618767WHRNc.1048G>T (p.Glu350Ter)
c.2704G>T (p.Glu902Ter)
c.1677G>T
n.2585G>T
c.1555G>T (p.Glu519Ter)
c.1651G>T (p.Glu551Ter)
c.2701G>T (p.Glu901Ter)
c.2041G>T (p.Glu681Ter)
c.2737G>T (p.Glu913Ter)
c.2734G>T (p.Glu912Ter)
c.2611G>T (p.Glu871Ter)
c.2494G>T (p.Glu832Ter)
c.1414G>T (p.Glu472Ter)
9g.114402774C>GCA374618768WHRNc.1048G>C (p.Glu350Gln)
c.2704G>C (p.Glu902Gln)
c.1677G>C
n.2585G>C
c.1555G>C (p.Glu519Gln)
c.1651G>C (p.Glu551Gln)
c.2701G>C (p.Glu901Gln)
c.2041G>C (p.Glu681Gln)
c.2737G>C (p.Glu913Gln)
c.2734G>C (p.Glu912Gln)
c.2611G>C (p.Glu871Gln)
c.2494G>C (p.Glu832Gln)
c.1414G>C (p.Glu472Gln)
 COSMIC COSMIC
9g.114402774C>TCA374618769WHRNc.1048G>A (p.Glu350Lys)
c.2704G>A (p.Glu902Lys)
c.1677G>A
n.2585G>A
c.1555G>A (p.Glu519Lys)
c.1651G>A (p.Glu551Lys)
c.2701G>A (p.Glu901Lys)
c.2041G>A (p.Glu681Lys)
c.2737G>A (p.Glu913Lys)
c.2734G>A (p.Glu912Lys)
c.2611G>A (p.Glu871Lys)
c.2494G>A (p.Glu832Lys)
c.1414G>A (p.Glu472Lys)
9g.114402775A>CCA466781775WHRNc.1047T>G (p.Thr349=)
c.2703T>G (p.Thr901=)
c.1676T>G
n.2584T>G
c.1554T>G (p.Thr518=)
c.1650T>G (p.Thr550=)
c.2700T>G (p.Thr900=)
c.2040T>G (p.Thr680=)
c.2736T>G (p.Thr912=)
c.2733T>G (p.Thr911=)
c.2610T>G (p.Thr870=)
c.2493T>G (p.Thr831=)
c.1413T>G (p.Thr471=)
9g.114402775A>GCA466781776WHRNc.1047T>C (p.Thr349=)
c.2703T>C (p.Thr901=)
c.1676T>C
n.2584T>C
c.1554T>C (p.Thr518=)
c.1650T>C (p.Thr550=)
c.2700T>C (p.Thr900=)
c.2040T>C (p.Thr680=)
c.2736T>C (p.Thr912=)
c.2733T>C (p.Thr911=)
c.2610T>C (p.Thr870=)
c.2493T>C (p.Thr831=)
c.1413T>C (p.Thr471=)
9g.114402775A>TCA466781777WHRNc.1047T>A (p.Thr349=)
c.2703T>A (p.Thr901=)
c.1676T>A
n.2584T>A
c.1554T>A (p.Thr518=)
c.1650T>A (p.Thr550=)
c.2700T>A (p.Thr900=)
c.2040T>A (p.Thr680=)
c.2736T>A (p.Thr912=)
c.2733T>A (p.Thr911=)
c.2610T>A (p.Thr870=)
c.2493T>A (p.Thr831=)
c.1413T>A (p.Thr471=)
9g.114402775dupCA2785655448WHRNc.1047dup (p.Glu350Ter)
c.2703dup (p.Glu902Ter)
c.1676dup
n.2584dup
c.1554dup (p.Glu519Ter)
c.1650dup (p.Glu551Ter)
c.2700dup (p.Glu901Ter)
c.2040dup (p.Glu681Ter)
c.2736dup (p.Glu913Ter)
c.2733dup (p.Glu912Ter)
c.2610dup (p.Glu871Ter)
c.2493dup (p.Glu832Ter)
c.1413dup (p.Glu472Ter)
9g.114402776G>ACA374618770WHRNc.1046C>T (p.Thr349Ile)
c.2702C>T (p.Thr901Ile)
c.1675C>T
n.2583C>T
c.1553C>T (p.Thr518Ile)
c.1649C>T (p.Thr550Ile)
c.2699C>T (p.Thr900Ile)
c.2039C>T (p.Thr680Ile)
c.2735C>T (p.Thr912Ile)
c.2732C>T (p.Thr911Ile)
c.2609C>T (p.Thr870Ile)
c.2492C>T (p.Thr831Ile)
c.1412C>T (p.Thr471Ile)
9g.114402776G>CCA374618771WHRNc.1046C>G (p.Thr349Ser)
c.2702C>G (p.Thr901Ser)
c.1675C>G
n.2583C>G
c.1553C>G (p.Thr518Ser)
c.1649C>G (p.Thr550Ser)
c.2699C>G (p.Thr900Ser)
c.2039C>G (p.Thr680Ser)
c.2735C>G (p.Thr912Ser)
c.2732C>G (p.Thr911Ser)
c.2609C>G (p.Thr870Ser)
c.2492C>G (p.Thr831Ser)
c.1412C>G (p.Thr471Ser)
9g.114402776G>TCA374618772WHRNc.1046C>A (p.Thr349Asn)
c.2702C>A (p.Thr901Asn)
c.1675C>A
n.2583C>A
c.1553C>A (p.Thr518Asn)
c.1649C>A (p.Thr550Asn)
c.2699C>A (p.Thr900Asn)
c.2039C>A (p.Thr680Asn)
c.2735C>A (p.Thr912Asn)
c.2732C>A (p.Thr911Asn)
c.2609C>A (p.Thr870Asn)
c.2492C>A (p.Thr831Asn)
c.1412C>A (p.Thr471Asn)
9g.114402777T>ACA374618773WHRNc.1045A>T (p.Thr349Ser)
c.2701A>T (p.Thr901Ser)
c.1674A>T
n.2582A>T
c.1552A>T (p.Thr518Ser)
c.1648A>T (p.Thr550Ser)
c.2698A>T (p.Thr900Ser)
c.2038A>T (p.Thr680Ser)
c.2734A>T (p.Thr912Ser)
c.2731A>T (p.Thr911Ser)
c.2608A>T (p.Thr870Ser)
c.2491A>T (p.Thr831Ser)
c.1411A>T (p.Thr471Ser)
9g.114402777T>CCA374618774WHRNc.1045A>G (p.Thr349Ala)
c.2701A>G (p.Thr901Ala)
c.1674A>G
n.2582A>G
c.1552A>G (p.Thr518Ala)
c.1648A>G (p.Thr550Ala)
c.2698A>G (p.Thr900Ala)
c.2038A>G (p.Thr680Ala)
c.2734A>G (p.Thr912Ala)
c.2731A>G (p.Thr911Ala)
c.2608A>G (p.Thr870Ala)
c.2491A>G (p.Thr831Ala)
c.1411A>G (p.Thr471Ala)
 gnomAD v4
9g.114402777T>GCA374618775WHRNc.1045A>C (p.Thr349Pro)
c.2701A>C (p.Thr901Pro)
c.1674A>C
n.2582A>C
c.1552A>C (p.Thr518Pro)
c.1648A>C (p.Thr550Pro)
c.2698A>C (p.Thr900Pro)
c.2038A>C (p.Thr680Pro)
c.2734A>C (p.Thr912Pro)
c.2731A>C (p.Thr911Pro)
c.2608A>C (p.Thr870Pro)
c.2491A>C (p.Thr831Pro)
c.1411A>C (p.Thr471Pro)
 ClinVar
9g.114402778G>ACA466781780WHRNc.1044C>T (p.Val348=)
c.2700C>T (p.Val900=)
c.1673C>T
n.2581C>T
c.1551C>T (p.Val517=)
c.1647C>T (p.Val549=)
c.2697C>T (p.Val899=)
c.2037C>T (p.Val679=)
c.2733C>T (p.Val911=)
c.2730C>T (p.Val910=)
c.2607C>T (p.Val869=)
c.2490C>T (p.Val830=)
c.1410C>T (p.Val470=)
 dbSNP
9g.114402778G>CCA466781778WHRNc.1044C>G (p.Val348=)
c.2700C>G (p.Val900=)
c.1673C>G
n.2581C>G
c.1551C>G (p.Val517=)
c.1647C>G (p.Val549=)
c.2697C>G (p.Val899=)
c.2037C>G (p.Val679=)
c.2733C>G (p.Val911=)
c.2730C>G (p.Val910=)
c.2607C>G (p.Val869=)
c.2490C>G (p.Val830=)
c.1410C>G (p.Val470=)
9g.114402778G=CA1873825326WHRNc.1044C= (p.Val348=)
c.2700C= (p.Val900=)
c.1673C=
n.2581C=
c.1551C= (p.Val517=)
c.1647C= (p.Val549=)
c.2697C= (p.Val899=)
c.2037C= (p.Val679=)
c.2733C= (p.Val911=)
c.2730C= (p.Val910=)
c.2607C= (p.Val869=)
c.2490C= (p.Val830=)
c.1410C= (p.Val470=)
9g.114402778G>TCA466781779WHRNc.1044C>A (p.Val348=)
c.2700C>A (p.Val900=)
c.1673C>A
n.2581C>A
c.1551C>A (p.Val517=)
c.1647C>A (p.Val549=)
c.2697C>A (p.Val899=)
c.2037C>A (p.Val679=)
c.2733C>A (p.Val911=)
c.2730C>A (p.Val910=)
c.2607C>A (p.Val869=)
c.2490C>A (p.Val830=)
c.1410C>A (p.Val470=)
 gnomAD v4
9g.114402779A>CCA374618777WHRNc.1043T>G (p.Val348Gly)
c.2699T>G (p.Val900Gly)
c.1672T>G
n.2580T>G
c.1550T>G (p.Val517Gly)
c.1646T>G (p.Val549Gly)
c.2696T>G (p.Val899Gly)
c.2036T>G (p.Val679Gly)
c.2732T>G (p.Val911Gly)
c.2729T>G (p.Val910Gly)
c.2606T>G (p.Val869Gly)
c.2489T>G (p.Val830Gly)
c.1409T>G (p.Val470Gly)
9g.114402779A>GCA374618778WHRNc.1043T>C (p.Val348Ala)
c.2699T>C (p.Val900Ala)
c.1672T>C
n.2580T>C
c.1550T>C (p.Val517Ala)
c.1646T>C (p.Val549Ala)
c.2696T>C (p.Val899Ala)
c.2036T>C (p.Val679Ala)
c.2732T>C (p.Val911Ala)
c.2729T>C (p.Val910Ala)
c.2606T>C (p.Val869Ala)
c.2489T>C (p.Val830Ala)
c.1409T>C (p.Val470Ala)
9g.114402779A>TCA374618776WHRNc.1043T>A (p.Val348Asp)
c.2699T>A (p.Val900Asp)
c.1672T>A
n.2580T>A
c.1550T>A (p.Val517Asp)
c.1646T>A (p.Val549Asp)
c.2696T>A (p.Val899Asp)
c.2036T>A (p.Val679Asp)
c.2732T>A (p.Val911Asp)
c.2729T>A (p.Val910Asp)
c.2606T>A (p.Val869Asp)
c.2489T>A (p.Val830Asp)
c.1409T>A (p.Val470Asp)
9g.114402780C>ACA374618779WHRNc.1042G>T (p.Val348Phe)
c.2698G>T (p.Val900Phe)
c.1671G>T
n.2579G>T
c.1549G>T (p.Val517Phe)
c.1645G>T (p.Val549Phe)
c.2695G>T (p.Val899Phe)
c.2035G>T (p.Val679Phe)
c.2731G>T (p.Val911Phe)
c.2728G>T (p.Val910Phe)
c.2605G>T (p.Val869Phe)
c.2488G>T (p.Val830Phe)
c.1408G>T (p.Val470Phe)
 COSMIC COSMIC
9g.114402780C>GCA374618780WHRNc.1042G>C (p.Val348Leu)
c.2698G>C (p.Val900Leu)
c.1671G>C
n.2579G>C
c.1549G>C (p.Val517Leu)
c.1645G>C (p.Val549Leu)
c.2695G>C (p.Val899Leu)
c.2035G>C (p.Val679Leu)
c.2731G>C (p.Val911Leu)
c.2728G>C (p.Val910Leu)
c.2605G>C (p.Val869Leu)
c.2488G>C (p.Val830Leu)
c.1408G>C (p.Val470Leu)
9g.114402780C>TCA374618781WHRNc.1042G>A (p.Val348Ile)
c.2698G>A (p.Val900Ile)
c.1671G>A
n.2579G>A
c.1549G>A (p.Val517Ile)
c.1645G>A (p.Val549Ile)
c.2695G>A (p.Val899Ile)
c.2035G>A (p.Val679Ile)
c.2731G>A (p.Val911Ile)
c.2728G>A (p.Val910Ile)
c.2605G>A (p.Val869Ile)
c.2488G>A (p.Val830Ile)
c.1408G>A (p.Val470Ile)
9g.114402781C>ACA466781781WHRNc.1041G>T (p.Leu347=)
c.2697G>T (p.Leu899=)
c.1670G>T
n.2578G>T
c.1548G>T (p.Leu516=)
c.1644G>T (p.Leu548=)
c.2694G>T (p.Leu898=)
c.2034G>T (p.Leu678=)
c.2730G>T (p.Leu910=)
c.2727G>T (p.Leu909=)
c.2604G>T (p.Leu868=)
c.2487G>T (p.Leu829=)
c.1407G>T (p.Leu469=)
9g.114402781C>GCA466781782WHRNc.1041G>C (p.Leu347=)
c.2697G>C (p.Leu899=)
c.1670G>C
n.2578G>C
c.1548G>C (p.Leu516=)
c.1644G>C (p.Leu548=)
c.2694G>C (p.Leu898=)
c.2034G>C (p.Leu678=)
c.2730G>C (p.Leu910=)
c.2727G>C (p.Leu909=)
c.2604G>C (p.Leu868=)
c.2487G>C (p.Leu829=)
c.1407G>C (p.Leu469=)
9g.114402781C>TCA466781783WHRNc.1041G>A (p.Leu347=)
c.2697G>A (p.Leu899=)
c.1670G>A
n.2578G>A
c.1548G>A (p.Leu516=)
c.1644G>A (p.Leu548=)
c.2694G>A (p.Leu898=)
c.2034G>A (p.Leu678=)
c.2730G>A (p.Leu910=)
c.2727G>A (p.Leu909=)
c.2604G>A (p.Leu868=)
c.2487G>A (p.Leu829=)
c.1407G>A (p.Leu469=)
9g.114402782A>CCA374618782WHRNc.1040T>G (p.Leu347Arg)
c.2696T>G (p.Leu899Arg)
c.1669T>G
n.2577T>G
c.1547T>G (p.Leu516Arg)
c.1643T>G (p.Leu548Arg)
c.2693T>G (p.Leu898Arg)
c.2033T>G (p.Leu678Arg)
c.2729T>G (p.Leu910Arg)
c.2726T>G (p.Leu909Arg)
c.2603T>G (p.Leu868Arg)
c.2486T>G (p.Leu829Arg)
c.1406T>G (p.Leu469Arg)
9g.114402782A>GCA374618783WHRNc.1040T>C (p.Leu347Pro)
c.2696T>C (p.Leu899Pro)
c.1669T>C
n.2577T>C
c.1547T>C (p.Leu516Pro)
c.1643T>C (p.Leu548Pro)
c.2693T>C (p.Leu898Pro)
c.2033T>C (p.Leu678Pro)
c.2729T>C (p.Leu910Pro)
c.2726T>C (p.Leu909Pro)
c.2603T>C (p.Leu868Pro)
c.2486T>C (p.Leu829Pro)
c.1406T>C (p.Leu469Pro)
9g.114402782A>TCA374618784WHRNc.1040T>A (p.Leu347Gln)
c.2696T>A (p.Leu899Gln)
c.1669T>A
n.2577T>A
c.1547T>A (p.Leu516Gln)
c.1643T>A (p.Leu548Gln)
c.2693T>A (p.Leu898Gln)
c.2033T>A (p.Leu678Gln)
c.2729T>A (p.Leu910Gln)
c.2726T>A (p.Leu909Gln)
c.2603T>A (p.Leu868Gln)
c.2486T>A (p.Leu829Gln)
c.1406T>A (p.Leu469Gln)
9g.114402783G>ACA466781784WHRNc.1039C>T (p.Leu347=)
c.2695C>T (p.Leu899=)
c.1668C>T
n.2576C>T
c.1546C>T (p.Leu516=)
c.1642C>T (p.Leu548=)
c.2692C>T (p.Leu898=)
c.2032C>T (p.Leu678=)
c.2728C>T (p.Leu910=)
c.2725C>T (p.Leu909=)
c.2602C>T (p.Leu868=)
c.2485C>T (p.Leu829=)
c.1405C>T (p.Leu469=)
9g.114402783G>CCA5205550WHRNc.1039C>G (p.Leu347Val)
c.2695C>G (p.Leu899Val)
c.1668C>G
n.2576C>G
c.1546C>G (p.Leu516Val)
c.1642C>G (p.Leu548Val)
c.2692C>G (p.Leu898Val)
c.2032C>G (p.Leu678Val)
c.2728C>G (p.Leu910Val)
c.2725C>G (p.Leu909Val)
c.2602C>G (p.Leu868Val)
c.2485C>G (p.Leu829Val)
c.1405C>G (p.Leu469Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402783G=CA1873825327WHRNc.1039C= (p.Leu347=)
c.2695C= (p.Leu899=)
c.1668C=
n.2576C=
c.1546C= (p.Leu516=)
c.1642C= (p.Leu548=)
c.2692C= (p.Leu898=)
c.2032C= (p.Leu678=)
c.2728C= (p.Leu910=)
c.2725C= (p.Leu909=)
c.2602C= (p.Leu868=)
c.2485C= (p.Leu829=)
c.1405C= (p.Leu469=)
9g.114402783G>TCA374618785WHRNc.1039C>A (p.Leu347Met)
c.2695C>A (p.Leu899Met)
c.1668C>A
n.2576C>A
c.1546C>A (p.Leu516Met)
c.1642C>A (p.Leu548Met)
c.2692C>A (p.Leu898Met)
c.2032C>A (p.Leu678Met)
c.2728C>A (p.Leu910Met)
c.2725C>A (p.Leu909Met)
c.2602C>A (p.Leu868Met)
c.2485C>A (p.Leu829Met)
c.1405C>A (p.Leu469Met)
 dbSNP gnomAD v2 gnomAD v4
9g.114402784A=CA1873825328WHRNc.1038T= (p.Phe346=)
c.2694T= (p.Phe898=)
c.1667T=
n.2575T=
c.1545T= (p.Phe515=)
c.1641T= (p.Phe547=)
c.2691T= (p.Phe897=)
c.2031T= (p.Phe677=)
c.2727T= (p.Phe909=)
c.2724T= (p.Phe908=)
c.2601T= (p.Phe867=)
c.2484T= (p.Phe828=)
c.1404T= (p.Phe468=)
9g.114402784A>CCA374618786WHRNc.1038T>G (p.Phe346Leu)
c.2694T>G (p.Phe898Leu)
c.1667T>G
n.2575T>G
c.1545T>G (p.Phe515Leu)
c.1641T>G (p.Phe547Leu)
c.2691T>G (p.Phe897Leu)
c.2031T>G (p.Phe677Leu)
c.2727T>G (p.Phe909Leu)
c.2724T>G (p.Phe908Leu)
c.2601T>G (p.Phe867Leu)
c.2484T>G (p.Phe828Leu)
c.1404T>G (p.Phe468Leu)
9g.114402784A>GCA198648741WHRNc.1038T>C (p.Phe346=)
c.2694T>C (p.Phe898=)
c.1667T>C
n.2575T>C
c.1545T>C (p.Phe515=)
c.1641T>C (p.Phe547=)
c.2691T>C (p.Phe897=)
c.2031T>C (p.Phe677=)
c.2727T>C (p.Phe909=)
c.2724T>C (p.Phe908=)
c.2601T>C (p.Phe867=)
c.2484T>C (p.Phe828=)
c.1404T>C (p.Phe468=)
 dbSNP gnomAD v4
9g.114402784A>TCA374618787WHRNc.1038T>A (p.Phe346Leu)
c.2694T>A (p.Phe898Leu)
c.1667T>A
n.2575T>A
c.1545T>A (p.Phe515Leu)
c.1641T>A (p.Phe547Leu)
c.2691T>A (p.Phe897Leu)
c.2031T>A (p.Phe677Leu)
c.2727T>A (p.Phe909Leu)
c.2724T>A (p.Phe908Leu)
c.2601T>A (p.Phe867Leu)
c.2484T>A (p.Phe828Leu)
c.1404T>A (p.Phe468Leu)
9g.114402785A>CCA374618788WHRNc.1037T>G (p.Phe346Cys)
c.2693T>G (p.Phe898Cys)
c.1666T>G
n.2574T>G
c.1544T>G (p.Phe515Cys)
c.1640T>G (p.Phe547Cys)
c.2690T>G (p.Phe897Cys)
c.2030T>G (p.Phe677Cys)
c.2726T>G (p.Phe909Cys)
c.2723T>G (p.Phe908Cys)
c.2600T>G (p.Phe867Cys)
c.2483T>G (p.Phe828Cys)
c.1403T>G (p.Phe468Cys)
9g.114402785A>GCA374618789WHRNc.1037T>C (p.Phe346Ser)
c.2693T>C (p.Phe898Ser)
c.1666T>C
n.2574T>C
c.1544T>C (p.Phe515Ser)
c.1640T>C (p.Phe547Ser)
c.2690T>C (p.Phe897Ser)
c.2030T>C (p.Phe677Ser)
c.2726T>C (p.Phe909Ser)
c.2723T>C (p.Phe908Ser)
c.2600T>C (p.Phe867Ser)
c.2483T>C (p.Phe828Ser)
c.1403T>C (p.Phe468Ser)
9g.114402785A>TCA374618790WHRNc.1037T>A (p.Phe346Tyr)
c.2693T>A (p.Phe898Tyr)
c.1666T>A
n.2574T>A
c.1544T>A (p.Phe515Tyr)
c.1640T>A (p.Phe547Tyr)
c.2690T>A (p.Phe897Tyr)
c.2030T>A (p.Phe677Tyr)
c.2726T>A (p.Phe909Tyr)
c.2723T>A (p.Phe908Tyr)
c.2600T>A (p.Phe867Tyr)
c.2483T>A (p.Phe828Tyr)
c.1403T>A (p.Phe468Tyr)
9g.114402786A>CCA374618793WHRNc.1036T>G (p.Phe346Val)
c.2692T>G (p.Phe898Val)
c.1665T>G
n.2573T>G
c.1543T>G (p.Phe515Val)
c.1639T>G (p.Phe547Val)
c.2689T>G (p.Phe897Val)
c.2029T>G (p.Phe677Val)
c.2725T>G (p.Phe909Val)
c.2722T>G (p.Phe908Val)
c.2599T>G (p.Phe867Val)
c.2482T>G (p.Phe828Val)
c.1402T>G (p.Phe468Val)
9g.114402786A>GCA374618792WHRNc.1036T>C (p.Phe346Leu)
c.2692T>C (p.Phe898Leu)
c.1665T>C
n.2573T>C
c.1543T>C (p.Phe515Leu)
c.1639T>C (p.Phe547Leu)
c.2689T>C (p.Phe897Leu)
c.2029T>C (p.Phe677Leu)
c.2725T>C (p.Phe909Leu)
c.2722T>C (p.Phe908Leu)
c.2599T>C (p.Phe867Leu)
c.2482T>C (p.Phe828Leu)
c.1402T>C (p.Phe468Leu)
9g.114402786A>TCA374618791WHRNc.1036T>A (p.Phe346Ile)
c.2692T>A (p.Phe898Ile)
c.1665T>A
n.2573T>A
c.1543T>A (p.Phe515Ile)
c.1639T>A (p.Phe547Ile)
c.2689T>A (p.Phe897Ile)
c.2029T>A (p.Phe677Ile)
c.2725T>A (p.Phe909Ile)
c.2722T>A (p.Phe908Ile)
c.2599T>A (p.Phe867Ile)
c.2482T>A (p.Phe828Ile)
c.1402T>A (p.Phe468Ile)
9g.114402787G>ACA466781786WHRNc.1035C>T (p.Asp345=)
c.2691C>T (p.Asp897=)
c.1664C>T
n.2572C>T
c.1542C>T (p.Asp514=)
c.1638C>T (p.Asp546=)
c.2688C>T (p.Asp896=)
c.2028C>T (p.Asp676=)
c.2724C>T (p.Asp908=)
c.2721C>T (p.Asp907=)
c.2598C>T (p.Asp866=)
c.2481C>T (p.Asp827=)
c.1401C>T (p.Asp467=)
 gnomAD v4
9g.114402787G>CCA374618794WHRNc.1035C>G (p.Asp345Glu)
c.2691C>G (p.Asp897Glu)
c.1664C>G
n.2572C>G
c.1542C>G (p.Asp514Glu)
c.1638C>G (p.Asp546Glu)
c.2688C>G (p.Asp896Glu)
c.2028C>G (p.Asp676Glu)
c.2724C>G (p.Asp908Glu)
c.2721C>G (p.Asp907Glu)
c.2598C>G (p.Asp866Glu)
c.2481C>G (p.Asp827Glu)
c.1401C>G (p.Asp467Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.114402787G=CA1873825329WHRNc.1035C= (p.Asp345=)
c.2691C= (p.Asp897=)
c.1664C=
n.2572C=
c.1542C= (p.Asp514=)
c.1638C= (p.Asp546=)
c.2688C= (p.Asp896=)
c.2028C= (p.Asp676=)
c.2724C= (p.Asp908=)
c.2721C= (p.Asp907=)
c.2598C= (p.Asp866=)
c.2481C= (p.Asp827=)
c.1401C= (p.Asp467=)
9g.114402787G>TCA374618795WHRNc.1035C>A (p.Asp345Glu)
c.2691C>A (p.Asp897Glu)
c.1664C>A
n.2572C>A
c.1542C>A (p.Asp514Glu)
c.1638C>A (p.Asp546Glu)
c.2688C>A (p.Asp896Glu)
c.2028C>A (p.Asp676Glu)
c.2724C>A (p.Asp908Glu)
c.2721C>A (p.Asp907Glu)
c.2598C>A (p.Asp866Glu)
c.2481C>A (p.Asp827Glu)
c.1401C>A (p.Asp467Glu)
9g.114402788T>ACA374618797WHRNc.1034A>T (p.Asp345Val)
c.2690A>T (p.Asp897Val)
c.1663A>T
n.2571A>T
c.1541A>T (p.Asp514Val)
c.1637A>T (p.Asp546Val)
c.2687A>T (p.Asp896Val)
c.2027A>T (p.Asp676Val)
c.2723A>T (p.Asp908Val)
c.2720A>T (p.Asp907Val)
c.2597A>T (p.Asp866Val)
c.2480A>T (p.Asp827Val)
c.1400A>T (p.Asp467Val)
9g.114402788T>CCA374618798WHRNc.1034A>G (p.Asp345Gly)
c.2690A>G (p.Asp897Gly)
c.1663A>G
n.2571A>G
c.1541A>G (p.Asp514Gly)
c.1637A>G (p.Asp546Gly)
c.2687A>G (p.Asp896Gly)
c.2027A>G (p.Asp676Gly)
c.2723A>G (p.Asp908Gly)
c.2720A>G (p.Asp907Gly)
c.2597A>G (p.Asp866Gly)
c.2480A>G (p.Asp827Gly)
c.1400A>G (p.Asp467Gly)
9g.114402788T>GCA5205551WHRNc.1034A>C (p.Asp345Ala)
c.2690A>C (p.Asp897Ala)
c.1663A>C
n.2571A>C
c.1541A>C (p.Asp514Ala)
c.1637A>C (p.Asp546Ala)
c.2687A>C (p.Asp896Ala)
c.2027A>C (p.Asp676Ala)
c.2723A>C (p.Asp908Ala)
c.2720A>C (p.Asp907Ala)
c.2597A>C (p.Asp866Ala)
c.2480A>C (p.Asp827Ala)
c.1400A>C (p.Asp467Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402788T=CA1873825330WHRNc.1034A= (p.Asp345=)
c.2690A= (p.Asp897=)
c.1663A=
n.2571A=
c.1541A= (p.Asp514=)
c.1637A= (p.Asp546=)
c.2687A= (p.Asp896=)
c.2027A= (p.Asp676=)
c.2723A= (p.Asp908=)
c.2720A= (p.Asp907=)
c.2597A= (p.Asp866=)
c.2480A= (p.Asp827=)
c.1400A= (p.Asp467=)
9g.114402789C>ACA374618799WHRNc.1033G>T (p.Asp345Tyr)
c.2689G>T (p.Asp897Tyr)
c.1662G>T
n.2570G>T
c.1540G>T (p.Asp514Tyr)
c.1636G>T (p.Asp546Tyr)
c.2686G>T (p.Asp896Tyr)
c.2026G>T (p.Asp676Tyr)
c.2722G>T (p.Asp908Tyr)
c.2719G>T (p.Asp907Tyr)
c.2596G>T (p.Asp866Tyr)
c.2479G>T (p.Asp827Tyr)
c.1399G>T (p.Asp467Tyr)
9g.114402789C>GCA374618800WHRNc.1033G>C (p.Asp345His)
c.2689G>C (p.Asp897His)
c.1662G>C
n.2570G>C
c.1540G>C (p.Asp514His)
c.1636G>C (p.Asp546His)
c.2686G>C (p.Asp896His)
c.2026G>C (p.Asp676His)
c.2722G>C (p.Asp908His)
c.2719G>C (p.Asp907His)
c.2596G>C (p.Asp866His)
c.2479G>C (p.Asp827His)
c.1399G>C (p.Asp467His)
9g.114402789C>TCA374618801WHRNc.1033G>A (p.Asp345Asn)
c.2689G>A (p.Asp897Asn)
c.1662G>A
n.2570G>A
c.1540G>A (p.Asp514Asn)
c.1636G>A (p.Asp546Asn)
c.2686G>A (p.Asp896Asn)
c.2026G>A (p.Asp676Asn)
c.2722G>A (p.Asp908Asn)
c.2719G>A (p.Asp907Asn)
c.2596G>A (p.Asp866Asn)
c.2479G>A (p.Asp827Asn)
c.1399G>A (p.Asp467Asn)
9g.114402790A>CCA374618802WHRNc.1032T>G (p.Ile344Met)
c.2688T>G (p.Ile896Met)
c.1661T>G
n.2569T>G
c.1539T>G (p.Ile513Met)
c.1635T>G (p.Ile545Met)
c.2685T>G (p.Ile895Met)
c.2025T>G (p.Ile675Met)
c.2721T>G (p.Ile907Met)
c.2718T>G (p.Ile906Met)
c.2595T>G (p.Ile865Met)
c.2478T>G (p.Ile826Met)
c.1398T>G (p.Ile466Met)
 gnomAD v4
9g.114402790A>GCA466781788WHRNc.1032T>C (p.Ile344=)
c.2688T>C (p.Ile896=)
c.1661T>C
n.2569T>C
c.1539T>C (p.Ile513=)
c.1635T>C (p.Ile545=)
c.2685T>C (p.Ile895=)
c.2025T>C (p.Ile675=)
c.2721T>C (p.Ile907=)
c.2718T>C (p.Ile906=)
c.2595T>C (p.Ile865=)
c.2478T>C (p.Ile826=)
c.1398T>C (p.Ile466=)
9g.114402790A>TCA466781790WHRNc.1032T>A (p.Ile344=)
c.2688T>A (p.Ile896=)
c.1661T>A
n.2569T>A
c.1539T>A (p.Ile513=)
c.1635T>A (p.Ile545=)
c.2685T>A (p.Ile895=)
c.2025T>A (p.Ile675=)
c.2721T>A (p.Ile907=)
c.2718T>A (p.Ile906=)
c.2595T>A (p.Ile865=)
c.2478T>A (p.Ile826=)
c.1398T>A (p.Ile466=)
9g.114402791A=CA1873825331WHRNc.1031T= (p.Ile344=)
c.2687T= (p.Ile896=)
c.1660T=
n.2568T=
c.1538T= (p.Ile513=)
c.1634T= (p.Ile545=)
c.2684T= (p.Ile895=)
c.2024T= (p.Ile675=)
c.2720T= (p.Ile907=)
c.2717T= (p.Ile906=)
c.2594T= (p.Ile865=)
c.2477T= (p.Ile826=)
c.1397T= (p.Ile466=)
9g.114402791A>CCA374618803WHRNc.1031T>G (p.Ile344Ser)
c.2687T>G (p.Ile896Ser)
c.1660T>G
n.2568T>G
c.1538T>G (p.Ile513Ser)
c.1634T>G (p.Ile545Ser)
c.2684T>G (p.Ile895Ser)
c.2024T>G (p.Ile675Ser)
c.2720T>G (p.Ile907Ser)
c.2717T>G (p.Ile906Ser)
c.2594T>G (p.Ile865Ser)
c.2477T>G (p.Ile826Ser)
c.1397T>G (p.Ile466Ser)
 gnomAD v4
9g.114402791A>GCA5205552WHRNc.1031T>C (p.Ile344Thr)
c.2687T>C (p.Ile896Thr)
c.1660T>C
n.2568T>C
c.1538T>C (p.Ile513Thr)
c.1634T>C (p.Ile545Thr)
c.2684T>C (p.Ile895Thr)
c.2024T>C (p.Ile675Thr)
c.2720T>C (p.Ile907Thr)
c.2717T>C (p.Ile906Thr)
c.2594T>C (p.Ile865Thr)
c.2477T>C (p.Ile826Thr)
c.1397T>C (p.Ile466Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.114402791A>TCA374618804WHRNc.1031T>A (p.Ile344Asn)
c.2687T>A (p.Ile896Asn)
c.1660T>A
n.2568T>A
c.1538T>A (p.Ile513Asn)
c.1634T>A (p.Ile545Asn)
c.2684T>A (p.Ile895Asn)
c.2024T>A (p.Ile675Asn)
c.2720T>A (p.Ile907Asn)
c.2717T>A (p.Ile906Asn)
c.2594T>A (p.Ile865Asn)
c.2477T>A (p.Ile826Asn)
c.1397T>A (p.Ile466Asn)
9g.114402792T>ACA5205554WHRNc.1030A>T (p.Ile344Phe)
c.2686A>T (p.Ile896Phe)
c.1659A>T
n.2567A>T
c.1537A>T (p.Ile513Phe)
c.1633A>T (p.Ile545Phe)
c.2683A>T (p.Ile895Phe)
c.2023A>T (p.Ile675Phe)
c.2719A>T (p.Ile907Phe)
c.2716A>T (p.Ile906Phe)
c.2593A>T (p.Ile865Phe)
c.2476A>T (p.Ile826Phe)
c.1396A>T (p.Ile466Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402792T>CCA5205553WHRNc.1030A>G (p.Ile344Val)
c.2686A>G (p.Ile896Val)
c.1659A>G
n.2567A>G
c.1537A>G (p.Ile513Val)
c.1633A>G (p.Ile545Val)
c.2683A>G (p.Ile895Val)
c.2023A>G (p.Ile675Val)
c.2719A>G (p.Ile907Val)
c.2716A>G (p.Ile906Val)
c.2593A>G (p.Ile865Val)
c.2476A>G (p.Ile826Val)
c.1396A>G (p.Ile466Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402792T>GCA374618805WHRNc.1030A>C (p.Ile344Leu)
c.2686A>C (p.Ile896Leu)
c.1659A>C
n.2567A>C
c.1537A>C (p.Ile513Leu)
c.1633A>C (p.Ile545Leu)
c.2683A>C (p.Ile895Leu)
c.2023A>C (p.Ile675Leu)
c.2719A>C (p.Ile907Leu)
c.2716A>C (p.Ile906Leu)
c.2593A>C (p.Ile865Leu)
c.2476A>C (p.Ile826Leu)
c.1396A>C (p.Ile466Leu)
9g.114402792T=CA1873825332WHRNc.1030A= (p.Ile344=)
c.2686A= (p.Ile896=)
c.1659A=
n.2567A=
c.1537A= (p.Ile513=)
c.1633A= (p.Ile545=)
c.2683A= (p.Ile895=)
c.2023A= (p.Ile675=)
c.2719A= (p.Ile907=)
c.2716A= (p.Ile906=)
c.2593A= (p.Ile865=)
c.2476A= (p.Ile826=)
c.1396A= (p.Ile466=)
9g.114402793G>ACA466781792WHRNc.1029C>T (p.Tyr343=)
c.2685C>T (p.Tyr895=)
c.1658C>T
n.2566C>T
c.1536C>T (p.Tyr512=)
c.1632C>T (p.Tyr544=)
c.2682C>T (p.Tyr894=)
c.2022C>T (p.Tyr674=)
c.2718C>T (p.Tyr906=)
c.2715C>T (p.Tyr905=)
c.2592C>T (p.Tyr864=)
c.2475C>T (p.Tyr825=)
c.1395C>T (p.Tyr465=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402793G>CCA374618806WHRNc.1029C>G (p.Tyr343Ter)
c.2685C>G (p.Tyr895Ter)
c.1658C>G
n.2566C>G
c.1536C>G (p.Tyr512Ter)
c.1632C>G (p.Tyr544Ter)
c.2682C>G (p.Tyr894Ter)
c.2022C>G (p.Tyr674Ter)
c.2718C>G (p.Tyr906Ter)
c.2715C>G (p.Tyr905Ter)
c.2592C>G (p.Tyr864Ter)
c.2475C>G (p.Tyr825Ter)
c.1395C>G (p.Tyr465Ter)
9g.114402793G=CA1873825333WHRNc.1029C= (p.Tyr343=)
c.2685C= (p.Tyr895=)
c.1658C=
n.2566C=
c.1536C= (p.Tyr512=)
c.1632C= (p.Tyr544=)
c.2682C= (p.Tyr894=)
c.2022C= (p.Tyr674=)
c.2718C= (p.Tyr906=)
c.2715C= (p.Tyr905=)
c.2592C= (p.Tyr864=)
c.2475C= (p.Tyr825=)
c.1395C= (p.Tyr465=)
9g.114402793G>TCA374618807WHRNc.1029C>A (p.Tyr343Ter)
c.2685C>A (p.Tyr895Ter)
c.1658C>A
n.2566C>A
c.1536C>A (p.Tyr512Ter)
c.1632C>A (p.Tyr544Ter)
c.2682C>A (p.Tyr894Ter)
c.2022C>A (p.Tyr674Ter)
c.2718C>A (p.Tyr906Ter)
c.2715C>A (p.Tyr905Ter)
c.2592C>A (p.Tyr864Ter)
c.2475C>A (p.Tyr825Ter)
c.1395C>A (p.Tyr465Ter)
9g.114402794T>ACA374618810WHRNc.1028A>T (p.Tyr343Phe)
c.2684A>T (p.Tyr895Phe)
c.1657A>T
n.2565A>T
c.1535A>T (p.Tyr512Phe)
c.1631A>T (p.Tyr544Phe)
c.2681A>T (p.Tyr894Phe)
c.2021A>T (p.Tyr674Phe)
c.2717A>T (p.Tyr906Phe)
c.2714A>T (p.Tyr905Phe)
c.2591A>T (p.Tyr864Phe)
c.2474A>T (p.Tyr825Phe)
c.1394A>T (p.Tyr465Phe)
9g.114402794T>CCA374618808WHRNc.1028A>G (p.Tyr343Cys)
c.2684A>G (p.Tyr895Cys)
c.1657A>G
n.2565A>G
c.1535A>G (p.Tyr512Cys)
c.1631A>G (p.Tyr544Cys)
c.2681A>G (p.Tyr894Cys)
c.2021A>G (p.Tyr674Cys)
c.2717A>G (p.Tyr906Cys)
c.2714A>G (p.Tyr905Cys)
c.2591A>G (p.Tyr864Cys)
c.2474A>G (p.Tyr825Cys)
c.1394A>G (p.Tyr465Cys)
 gnomAD v4
9g.114402794T>GCA374618809WHRNc.1028A>C (p.Tyr343Ser)
c.2684A>C (p.Tyr895Ser)
c.1657A>C
n.2565A>C
c.1535A>C (p.Tyr512Ser)
c.1631A>C (p.Tyr544Ser)
c.2681A>C (p.Tyr894Ser)
c.2021A>C (p.Tyr674Ser)
c.2717A>C (p.Tyr906Ser)
c.2714A>C (p.Tyr905Ser)
c.2591A>C (p.Tyr864Ser)
c.2474A>C (p.Tyr825Ser)
c.1394A>C (p.Tyr465Ser)
9g.114402795A>CCA374618811WHRNc.1027T>G (p.Tyr343Asp)
c.2683T>G (p.Tyr895Asp)
c.1656T>G
n.2564T>G
c.1534T>G (p.Tyr512Asp)
c.1630T>G (p.Tyr544Asp)
c.2680T>G (p.Tyr894Asp)
c.2020T>G (p.Tyr674Asp)
c.2716T>G (p.Tyr906Asp)
c.2713T>G (p.Tyr905Asp)
c.2590T>G (p.Tyr864Asp)
c.2473T>G (p.Tyr825Asp)
c.1393T>G (p.Tyr465Asp)
 gnomAD v4
9g.114402795A>GCA374618812WHRNc.1027T>C (p.Tyr343His)
c.2683T>C (p.Tyr895His)
c.1656T>C
n.2564T>C
c.1534T>C (p.Tyr512His)
c.1630T>C (p.Tyr544His)
c.2680T>C (p.Tyr894His)
c.2020T>C (p.Tyr674His)
c.2716T>C (p.Tyr906His)
c.2713T>C (p.Tyr905His)
c.2590T>C (p.Tyr864His)
c.2473T>C (p.Tyr825His)
c.1393T>C (p.Tyr465His)
 gnomAD v4
9g.114402795A>TCA374618813WHRNc.1027T>A (p.Tyr343Asn)
c.2683T>A (p.Tyr895Asn)
c.1656T>A
n.2564T>A
c.1534T>A (p.Tyr512Asn)
c.1630T>A (p.Tyr544Asn)
c.2680T>A (p.Tyr894Asn)
c.2020T>A (p.Tyr674Asn)
c.2716T>A (p.Tyr906Asn)
c.2713T>A (p.Tyr905Asn)
c.2590T>A (p.Tyr864Asn)
c.2473T>A (p.Tyr825Asn)
c.1393T>A (p.Tyr465Asn)
9g.114402796G>ACA466781794WHRNc.1026C>T (p.Asp342=)
c.2682C>T (p.Asp894=)
c.1655C>T
n.2563C>T
c.1533C>T (p.Asp511=)
c.1629C>T (p.Asp543=)
c.2679C>T (p.Asp893=)
c.2019C>T (p.Asp673=)
c.2715C>T (p.Asp905=)
c.2712C>T (p.Asp904=)
c.2589C>T (p.Asp863=)
c.2472C>T (p.Asp824=)
c.1392C>T (p.Asp464=)
9g.114402796G>CCA374618814WHRNc.1026C>G (p.Asp342Glu)
c.2682C>G (p.Asp894Glu)
c.1655C>G
n.2563C>G
c.1533C>G (p.Asp511Glu)
c.1629C>G (p.Asp543Glu)
c.2679C>G (p.Asp893Glu)
c.2019C>G (p.Asp673Glu)
c.2715C>G (p.Asp905Glu)
c.2712C>G (p.Asp904Glu)
c.2589C>G (p.Asp863Glu)
c.2472C>G (p.Asp824Glu)
c.1392C>G (p.Asp464Glu)
9g.114402796G>TCA374618815WHRNc.1026C>A (p.Asp342Glu)
c.2682C>A (p.Asp894Glu)
c.1655C>A
n.2563C>A
c.1533C>A (p.Asp511Glu)
c.1629C>A (p.Asp543Glu)
c.2679C>A (p.Asp893Glu)
c.2019C>A (p.Asp673Glu)
c.2715C>A (p.Asp905Glu)
c.2712C>A (p.Asp904Glu)
c.2589C>A (p.Asp863Glu)
c.2472C>A (p.Asp824Glu)
c.1392C>A (p.Asp464Glu)
9g.114402799_114402804delCA2720690036WHRNc.1021_1026del (p.Arg341_Asp342del)
c.2677_2682del (p.Arg893_Asp894del)
c.1650_1655del
n.2558_2563del
c.1528_1533del (p.Arg510_Asp511del)
c.1624_1629del (p.Arg542_Asp543del)
c.2674_2679del (p.Arg892_Asp893del)
c.2014_2019del (p.Arg672_Asp673del)
c.2710_2715del (p.Arg904_Asp905del)
c.2707_2712del (p.Arg903_Asp904del)
c.2584_2589del (p.Arg862_Asp863del)
c.2467_2472del (p.Arg823_Asp824del)
c.1387_1392del (p.Arg463_Asp464del)
 dbSNP
9g.114402797T>ACA374618816WHRNc.1025A>T (p.Asp342Val)
c.2681A>T (p.Asp894Val)
c.1654A>T
n.2562A>T
c.1532A>T (p.Asp511Val)
c.1628A>T (p.Asp543Val)
c.2678A>T (p.Asp893Val)
c.2018A>T (p.Asp673Val)
c.2714A>T (p.Asp905Val)
c.2711A>T (p.Asp904Val)
c.2588A>T (p.Asp863Val)
c.2471A>T (p.Asp824Val)
c.1391A>T (p.Asp464Val)
9g.114402797T>CCA374618817WHRNc.1025A>G (p.Asp342Gly)
c.2681A>G (p.Asp894Gly)
c.1654A>G
n.2562A>G
c.1532A>G (p.Asp511Gly)
c.1628A>G (p.Asp543Gly)
c.2678A>G (p.Asp893Gly)
c.2018A>G (p.Asp673Gly)
c.2714A>G (p.Asp905Gly)
c.2711A>G (p.Asp904Gly)
c.2588A>G (p.Asp863Gly)
c.2471A>G (p.Asp824Gly)
c.1391A>G (p.Asp464Gly)
9g.114402797T>GCA374618818WHRNc.1025A>C (p.Asp342Ala)
c.2681A>C (p.Asp894Ala)
c.1654A>C
n.2562A>C
c.1532A>C (p.Asp511Ala)
c.1628A>C (p.Asp543Ala)
c.2678A>C (p.Asp893Ala)
c.2018A>C (p.Asp673Ala)
c.2714A>C (p.Asp905Ala)
c.2711A>C (p.Asp904Ala)
c.2588A>C (p.Asp863Ala)
c.2471A>C (p.Asp824Ala)
c.1391A>C (p.Asp464Ala)
9g.114402798C>ACA374618819WHRNc.1024G>T (p.Asp342Tyr)
c.2680G>T (p.Asp894Tyr)
c.1653G>T
n.2561G>T
c.1531G>T (p.Asp511Tyr)
c.1627G>T (p.Asp543Tyr)
c.2677G>T (p.Asp893Tyr)
c.2017G>T (p.Asp673Tyr)
c.2713G>T (p.Asp905Tyr)
c.2710G>T (p.Asp904Tyr)
c.2587G>T (p.Asp863Tyr)
c.2470G>T (p.Asp824Tyr)
c.1390G>T (p.Asp464Tyr)
9g.114402798C>GCA374618820WHRNc.1024G>C (p.Asp342His)
c.2680G>C (p.Asp894His)
c.1653G>C
n.2561G>C
c.1531G>C (p.Asp511His)
c.1627G>C (p.Asp543His)
c.2677G>C (p.Asp893His)
c.2017G>C (p.Asp673His)
c.2713G>C (p.Asp905His)
c.2710G>C (p.Asp904His)
c.2587G>C (p.Asp863His)
c.2470G>C (p.Asp824His)
c.1390G>C (p.Asp464His)
9g.114402798C>TCA374618821WHRNc.1024G>A (p.Asp342Asn)
c.2680G>A (p.Asp894Asn)
c.1653G>A
n.2561G>A
c.1531G>A (p.Asp511Asn)
c.1627G>A (p.Asp543Asn)
c.2677G>A (p.Asp893Asn)
c.2017G>A (p.Asp673Asn)
c.2713G>A (p.Asp905Asn)
c.2710G>A (p.Asp904Asn)
c.2587G>A (p.Asp863Asn)
c.2470G>A (p.Asp824Asn)
c.1390G>A (p.Asp464Asn)
9g.114402799A>CCA466781795WHRNc.1023T>G (p.Arg341=)
c.2679T>G (p.Arg893=)
c.1652T>G
n.2560T>G
c.1530T>G (p.Arg510=)
c.1626T>G (p.Arg542=)
c.2676T>G (p.Arg892=)
c.2016T>G (p.Arg672=)
c.2712T>G (p.Arg904=)
c.2709T>G (p.Arg903=)
c.2586T>G (p.Arg862=)
c.2469T>G (p.Arg823=)
c.1389T>G (p.Arg463=)
9g.114402799A>GCA466781796WHRNc.1023T>C (p.Arg341=)
c.2679T>C (p.Arg893=)
c.1652T>C
n.2560T>C
c.1530T>C (p.Arg510=)
c.1626T>C (p.Arg542=)
c.2676T>C (p.Arg892=)
c.2016T>C (p.Arg672=)
c.2712T>C (p.Arg904=)
c.2709T>C (p.Arg903=)
c.2586T>C (p.Arg862=)
c.2469T>C (p.Arg823=)
c.1389T>C (p.Arg463=)
9g.114402799A>TCA466781797WHRNc.1023T>A (p.Arg341=)
c.2679T>A (p.Arg893=)
c.1652T>A
n.2560T>A
c.1530T>A (p.Arg510=)
c.1626T>A (p.Arg542=)
c.2676T>A (p.Arg892=)
c.2016T>A (p.Arg672=)
c.2712T>A (p.Arg904=)
c.2709T>A (p.Arg903=)
c.2586T>A (p.Arg862=)
c.2469T>A (p.Arg823=)
c.1389T>A (p.Arg463=)
9g.114402800C>ACA374618823WHRNc.1022G>T (p.Arg341Leu)
c.2678G>T (p.Arg893Leu)
c.1651G>T
n.2559G>T
c.1529G>T (p.Arg510Leu)
c.1625G>T (p.Arg542Leu)
c.2675G>T (p.Arg892Leu)
c.2015G>T (p.Arg672Leu)
c.2711G>T (p.Arg904Leu)
c.2708G>T (p.Arg903Leu)
c.2585G>T (p.Arg862Leu)
c.2468G>T (p.Arg823Leu)
c.1388G>T (p.Arg463Leu)
9g.114402800C=CA1873825334WHRNc.1022G= (p.Arg341=)
c.2678G= (p.Arg893=)
c.1651G=
n.2559G=
c.1529G= (p.Arg510=)
c.1625G= (p.Arg542=)
c.2675G= (p.Arg892=)
c.2015G= (p.Arg672=)
c.2711G= (p.Arg904=)
c.2708G= (p.Arg903=)
c.2585G= (p.Arg862=)
c.2468G= (p.Arg823=)
c.1388G= (p.Arg463=)
9g.114402800C>GCA374618822WHRNc.1022G>C (p.Arg341Pro)
c.2678G>C (p.Arg893Pro)
c.1651G>C
n.2559G>C
c.1529G>C (p.Arg510Pro)
c.1625G>C (p.Arg542Pro)
c.2675G>C (p.Arg892Pro)
c.2015G>C (p.Arg672Pro)
c.2711G>C (p.Arg904Pro)
c.2708G>C (p.Arg903Pro)
c.2585G>C (p.Arg862Pro)
c.2468G>C (p.Arg823Pro)
c.1388G>C (p.Arg463Pro)
9g.114402800C>TCA5205555WHRNc.1022G>A (p.Arg341His)
c.2678G>A (p.Arg893His)
c.1651G>A
n.2559G>A
c.1529G>A (p.Arg510His)
c.1625G>A (p.Arg542His)
c.2675G>A (p.Arg892His)
c.2015G>A (p.Arg672His)
c.2711G>A (p.Arg904His)
c.2708G>A (p.Arg903His)
c.2585G>A (p.Arg862His)
c.2468G>A (p.Arg823His)
c.1388G>A (p.Arg463His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402801G>ACA5205556WHRNc.1021C>T (p.Arg341Cys)
c.2677C>T (p.Arg893Cys)
c.1650C>T
n.2558C>T
c.1528C>T (p.Arg510Cys)
c.1624C>T (p.Arg542Cys)
c.2674C>T (p.Arg892Cys)
c.2014C>T (p.Arg672Cys)
c.2710C>T (p.Arg904Cys)
c.2707C>T (p.Arg903Cys)
c.2584C>T (p.Arg862Cys)
c.2467C>T (p.Arg823Cys)
c.1387C>T (p.Arg463Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402801G>CCA5205557WHRNc.1021C>G (p.Arg341Gly)
c.2677C>G (p.Arg893Gly)
c.1650C>G
n.2558C>G
c.1528C>G (p.Arg510Gly)
c.1624C>G (p.Arg542Gly)
c.2674C>G (p.Arg892Gly)
c.2014C>G (p.Arg672Gly)
c.2710C>G (p.Arg904Gly)
c.2707C>G (p.Arg903Gly)
c.2584C>G (p.Arg862Gly)
c.2467C>G (p.Arg823Gly)
c.1387C>G (p.Arg463Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402801G=CA1873825335WHRNc.1021C= (p.Arg341=)
c.2677C= (p.Arg893=)
c.1650C=
n.2558C=
c.1528C= (p.Arg510=)
c.1624C= (p.Arg542=)
c.2674C= (p.Arg892=)
c.2014C= (p.Arg672=)
c.2710C= (p.Arg904=)
c.2707C= (p.Arg903=)
c.2584C= (p.Arg862=)
c.2467C= (p.Arg823=)
c.1387C= (p.Arg463=)
9g.114402801G>TCA374618824WHRNc.1021C>A (p.Arg341Ser)
c.2677C>A (p.Arg893Ser)
c.1650C>A
n.2558C>A
c.1528C>A (p.Arg510Ser)
c.1624C>A (p.Arg542Ser)
c.2674C>A (p.Arg892Ser)
c.2014C>A (p.Arg672Ser)
c.2710C>A (p.Arg904Ser)
c.2707C>A (p.Arg903Ser)
c.2584C>A (p.Arg862Ser)
c.2467C>A (p.Arg823Ser)
c.1387C>A (p.Arg463Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.114402802G>ACA466910796WHRNc.1020C>T (p.Asp340=)
c.2676C>T (p.Asp892=)
c.1649C>T
n.2557C>T
c.1527C>T (p.Asp509=)
c.1623C>T (p.Asp541=)
c.2673C>T (p.Asp891=)
c.2013C>T (p.Asp671=)
c.2709C>T (p.Asp903=)
c.2706C>T (p.Asp902=)
c.2583C>T (p.Asp861=)
c.2466C>T (p.Asp822=)
c.1386C>T (p.Asp462=)
9g.114402802G>CCA374618825WHRNc.1020C>G (p.Asp340Glu)
c.2676C>G (p.Asp892Glu)
c.1649C>G
n.2557C>G
c.1527C>G (p.Asp509Glu)
c.1623C>G (p.Asp541Glu)
c.2673C>G (p.Asp891Glu)
c.2013C>G (p.Asp671Glu)
c.2709C>G (p.Asp903Glu)
c.2706C>G (p.Asp902Glu)
c.2583C>G (p.Asp861Glu)
c.2466C>G (p.Asp822Glu)
c.1386C>G (p.Asp462Glu)
9g.114402802G>TCA374618826WHRNc.1020C>A (p.Asp340Glu)
c.2676C>A (p.Asp892Glu)
c.1649C>A
n.2557C>A
c.1527C>A (p.Asp509Glu)
c.1623C>A (p.Asp541Glu)
c.2673C>A (p.Asp891Glu)
c.2013C>A (p.Asp671Glu)
c.2709C>A (p.Asp903Glu)
c.2706C>A (p.Asp902Glu)
c.2583C>A (p.Asp861Glu)
c.2466C>A (p.Asp822Glu)
c.1386C>A (p.Asp462Glu)
9g.114402803T>ACA374618827WHRNc.1019A>T (p.Asp340Val)
c.2675A>T (p.Asp892Val)
c.1648A>T
n.2556A>T
c.1526A>T (p.Asp509Val)
c.1622A>T (p.Asp541Val)
c.2672A>T (p.Asp891Val)
c.2012A>T (p.Asp671Val)
c.2708A>T (p.Asp903Val)
c.2705A>T (p.Asp902Val)
c.2582A>T (p.Asp861Val)
c.2465A>T (p.Asp822Val)
c.1385A>T (p.Asp462Val)
9g.114402803T>CCA374618828WHRNc.1019A>G (p.Asp340Gly)
c.2675A>G (p.Asp892Gly)
c.1648A>G
n.2556A>G
c.1526A>G (p.Asp509Gly)
c.1622A>G (p.Asp541Gly)
c.2672A>G (p.Asp891Gly)
c.2012A>G (p.Asp671Gly)
c.2708A>G (p.Asp903Gly)
c.2705A>G (p.Asp902Gly)
c.2582A>G (p.Asp861Gly)
c.2465A>G (p.Asp822Gly)
c.1385A>G (p.Asp462Gly)
9g.114402803T>GCA374618829WHRNc.1019A>C (p.Asp340Ala)
c.2675A>C (p.Asp892Ala)
c.1648A>C
n.2556A>C
c.1526A>C (p.Asp509Ala)
c.1622A>C (p.Asp541Ala)
c.2672A>C (p.Asp891Ala)
c.2012A>C (p.Asp671Ala)
c.2708A>C (p.Asp903Ala)
c.2705A>C (p.Asp902Ala)
c.2582A>C (p.Asp861Ala)
c.2465A>C (p.Asp822Ala)
c.1385A>C (p.Asp462Ala)
9g.114402804C>ACA374618830WHRNc.1018G>T (p.Asp340Tyr)
c.2674G>T (p.Asp892Tyr)
c.1647G>T
n.2555G>T
c.1525G>T (p.Asp509Tyr)
c.1621G>T (p.Asp541Tyr)
c.2671G>T (p.Asp891Tyr)
c.2011G>T (p.Asp671Tyr)
c.2707G>T (p.Asp903Tyr)
c.2704G>T (p.Asp902Tyr)
c.2581G>T (p.Asp861Tyr)
c.2464G>T (p.Asp822Tyr)
c.1384G>T (p.Asp462Tyr)
9g.114402804C=CA1873825336WHRNc.1018G= (p.Asp340=)
c.2674G= (p.Asp892=)
c.1647G=
n.2555G=
c.1525G= (p.Asp509=)
c.1621G= (p.Asp541=)
c.2671G= (p.Asp891=)
c.2011G= (p.Asp671=)
c.2707G= (p.Asp903=)
c.2704G= (p.Asp902=)
c.2581G= (p.Asp861=)
c.2464G= (p.Asp822=)
c.1384G= (p.Asp462=)
9g.114402804C>GCA374618831WHRNc.1018G>C (p.Asp340His)
c.2674G>C (p.Asp892His)
c.1647G>C
n.2555G>C
c.1525G>C (p.Asp509His)
c.1621G>C (p.Asp541His)
c.2671G>C (p.Asp891His)
c.2011G>C (p.Asp671His)
c.2707G>C (p.Asp903His)
c.2704G>C (p.Asp902His)
c.2581G>C (p.Asp861His)
c.2464G>C (p.Asp822His)
c.1384G>C (p.Asp462His)
 dbSNP
9g.114402804C>TCA374618832WHRNc.1018G>A (p.Asp340Asn)
c.2674G>A (p.Asp892Asn)
c.1647G>A
n.2555G>A
c.1525G>A (p.Asp509Asn)
c.1621G>A (p.Asp541Asn)
c.2671G>A (p.Asp891Asn)
c.2011G>A (p.Asp671Asn)
c.2707G>A (p.Asp903Asn)
c.2704G>A (p.Asp902Asn)
c.2581G>A (p.Asp861Asn)
c.2464G>A (p.Asp822Asn)
c.1384G>A (p.Asp462Asn)
 dbSNP gnomAD v2
9g.114402805C>ACA374618833WHRNc.1017G>T (p.Lys339Asn)
c.2673G>T (p.Lys891Asn)
c.1646G>T
n.2554G>T
c.1524G>T (p.Lys508Asn)
c.1620G>T (p.Lys540Asn)
c.2670G>T (p.Lys890Asn)
c.2010G>T (p.Lys670Asn)
c.2706G>T (p.Lys902Asn)
c.2703G>T (p.Lys901Asn)
c.2580G>T (p.Lys860Asn)
c.2463G>T (p.Lys821Asn)
c.1383G>T (p.Lys461Asn)
9g.114402805C=CA1873825337WHRNc.1017G= (p.Lys339=)
c.2673G= (p.Lys891=)
c.1646G=
n.2554G=
c.1524G= (p.Lys508=)
c.1620G= (p.Lys540=)
c.2670G= (p.Lys890=)
c.2010G= (p.Lys670=)
c.2706G= (p.Lys902=)
c.2703G= (p.Lys901=)
c.2580G= (p.Lys860=)
c.2463G= (p.Lys821=)
c.1383G= (p.Lys461=)
9g.114402805C>GCA374618834WHRNc.1017G>C (p.Lys339Asn)
c.2673G>C (p.Lys891Asn)
c.1646G>C
n.2554G>C
c.1524G>C (p.Lys508Asn)
c.1620G>C (p.Lys540Asn)
c.2670G>C (p.Lys890Asn)
c.2010G>C (p.Lys670Asn)
c.2706G>C (p.Lys902Asn)
c.2703G>C (p.Lys901Asn)
c.2580G>C (p.Lys860Asn)
c.2463G>C (p.Lys821Asn)
c.1383G>C (p.Lys461Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.114402805C>TCA466910801WHRNc.1017G>A (p.Lys339=)
c.2673G>A (p.Lys891=)
c.1646G>A
n.2554G>A
c.1524G>A (p.Lys508=)
c.1620G>A (p.Lys540=)
c.2670G>A (p.Lys890=)
c.2010G>A (p.Lys670=)
c.2706G>A (p.Lys902=)
c.2703G>A (p.Lys901=)
c.2580G>A (p.Lys860=)
c.2463G>A (p.Lys821=)
c.1383G>A (p.Lys461=)
9g.114402806T>ACA374618836WHRNc.1016A>T (p.Lys339Met)
c.2672A>T (p.Lys891Met)
c.1645A>T
n.2553A>T
c.1523A>T (p.Lys508Met)
c.1619A>T (p.Lys540Met)
c.2669A>T (p.Lys890Met)
c.2009A>T (p.Lys670Met)
c.2705A>T (p.Lys902Met)
c.2702A>T (p.Lys901Met)
c.2579A>T (p.Lys860Met)
c.2462A>T (p.Lys821Met)
c.1382A>T (p.Lys461Met)
9g.114402806T>CCA374618837WHRNc.1016A>G (p.Lys339Arg)
c.2672A>G (p.Lys891Arg)
c.1645A>G
n.2553A>G
c.1523A>G (p.Lys508Arg)
c.1619A>G (p.Lys540Arg)
c.2669A>G (p.Lys890Arg)
c.2009A>G (p.Lys670Arg)
c.2705A>G (p.Lys902Arg)
c.2702A>G (p.Lys901Arg)
c.2579A>G (p.Lys860Arg)
c.2462A>G (p.Lys821Arg)
c.1382A>G (p.Lys461Arg)
 dbSNP
9g.114402806T>GCA374618835WHRNc.1016A>C (p.Lys339Thr)
c.2672A>C (p.Lys891Thr)
c.1645A>C
n.2553A>C
c.1523A>C (p.Lys508Thr)
c.1619A>C (p.Lys540Thr)
c.2669A>C (p.Lys890Thr)
c.2009A>C (p.Lys670Thr)
c.2705A>C (p.Lys902Thr)
c.2702A>C (p.Lys901Thr)
c.2579A>C (p.Lys860Thr)
c.2462A>C (p.Lys821Thr)
c.1382A>C (p.Lys461Thr)
9g.114402806T=CA1873825338WHRNc.1016A= (p.Lys339=)
c.2672A= (p.Lys891=)
c.1645A=
n.2553A=
c.1523A= (p.Lys508=)
c.1619A= (p.Lys540=)
c.2669A= (p.Lys890=)
c.2009A= (p.Lys670=)
c.2705A= (p.Lys902=)
c.2702A= (p.Lys901=)
c.2579A= (p.Lys860=)
c.2462A= (p.Lys821=)
c.1382A= (p.Lys461=)
9g.114402807T>ACA374618838WHRNc.1015A>T (p.Lys339Ter)
c.2671A>T (p.Lys891Ter)
c.1644A>T
n.2552A>T
c.1522A>T (p.Lys508Ter)
c.1618A>T (p.Lys540Ter)
c.2668A>T (p.Lys890Ter)
c.2008A>T (p.Lys670Ter)
c.2704A>T (p.Lys902Ter)
c.2701A>T (p.Lys901Ter)
c.2578A>T (p.Lys860Ter)
c.2461A>T (p.Lys821Ter)
c.1381A>T (p.Lys461Ter)
9g.114402807T>CCA374618839WHRNc.1015A>G (p.Lys339Glu)
c.2671A>G (p.Lys891Glu)
c.1644A>G
n.2552A>G
c.1522A>G (p.Lys508Glu)
c.1618A>G (p.Lys540Glu)
c.2668A>G (p.Lys890Glu)
c.2008A>G (p.Lys670Glu)
c.2704A>G (p.Lys902Glu)
c.2701A>G (p.Lys901Glu)
c.2578A>G (p.Lys860Glu)
c.2461A>G (p.Lys821Glu)
c.1381A>G (p.Lys461Glu)
9g.114402807T>GCA374618840WHRNc.1015A>C (p.Lys339Gln)
c.2671A>C (p.Lys891Gln)
c.1644A>C
n.2552A>C
c.1522A>C (p.Lys508Gln)
c.1618A>C (p.Lys540Gln)
c.2668A>C (p.Lys890Gln)
c.2008A>C (p.Lys670Gln)
c.2704A>C (p.Lys902Gln)
c.2701A>C (p.Lys901Gln)
c.2578A>C (p.Lys860Gln)
c.2461A>C (p.Lys821Gln)
c.1381A>C (p.Lys461Gln)
9g.114402808A>CCA466910802WHRNc.1014T>G (p.Thr338=)
c.2670T>G (p.Thr890=)
c.1643T>G
n.2551T>G
c.1521T>G (p.Thr507=)
c.1617T>G (p.Thr539=)
c.2667T>G (p.Thr889=)
c.2007T>G (p.Thr669=)
c.2703T>G (p.Thr901=)
c.2700T>G (p.Thr900=)
c.2577T>G (p.Thr859=)
c.2460T>G (p.Thr820=)
c.1380T>G (p.Thr460=)
9g.114402808A>GCA466910803WHRNc.1014T>C (p.Thr338=)
c.2670T>C (p.Thr890=)
c.1643T>C
n.2551T>C
c.1521T>C (p.Thr507=)
c.1617T>C (p.Thr539=)
c.2667T>C (p.Thr889=)
c.2007T>C (p.Thr669=)
c.2703T>C (p.Thr901=)
c.2700T>C (p.Thr900=)
c.2577T>C (p.Thr859=)
c.2460T>C (p.Thr820=)
c.1380T>C (p.Thr460=)
9g.114402808A>TCA466910804WHRNc.1014T>A (p.Thr338=)
c.2670T>A (p.Thr890=)
c.1643T>A
n.2551T>A
c.1521T>A (p.Thr507=)
c.1617T>A (p.Thr539=)
c.2667T>A (p.Thr889=)
c.2007T>A (p.Thr669=)
c.2703T>A (p.Thr901=)
c.2700T>A (p.Thr900=)
c.2577T>A (p.Thr859=)
c.2460T>A (p.Thr820=)
c.1380T>A (p.Thr460=)
9g.114402809G>ACA374618841WHRNc.1013C>T (p.Thr338Ile)
c.2669C>T (p.Thr890Ile)
c.1642C>T
n.2550C>T
c.1520C>T (p.Thr507Ile)
c.1616C>T (p.Thr539Ile)
c.2666C>T (p.Thr889Ile)
c.2006C>T (p.Thr669Ile)
c.2702C>T (p.Thr901Ile)
c.2699C>T (p.Thr900Ile)
c.2576C>T (p.Thr859Ile)
c.2459C>T (p.Thr820Ile)
c.1379C>T (p.Thr460Ile)
9g.114402809G>CCA374618842WHRNc.1013C>G (p.Thr338Ser)
c.2669C>G (p.Thr890Ser)
c.1642C>G
n.2550C>G
c.1520C>G (p.Thr507Ser)
c.1616C>G (p.Thr539Ser)
c.2666C>G (p.Thr889Ser)
c.2006C>G (p.Thr669Ser)
c.2702C>G (p.Thr901Ser)
c.2699C>G (p.Thr900Ser)
c.2576C>G (p.Thr859Ser)
c.2459C>G (p.Thr820Ser)
c.1379C>G (p.Thr460Ser)
 gnomAD v4
9g.114402809G>TCA374618843WHRNc.1013C>A (p.Thr338Asn)
c.2669C>A (p.Thr890Asn)
c.1642C>A
n.2550C>A
c.1520C>A (p.Thr507Asn)
c.1616C>A (p.Thr539Asn)
c.2666C>A (p.Thr889Asn)
c.2006C>A (p.Thr669Asn)
c.2702C>A (p.Thr901Asn)
c.2699C>A (p.Thr900Asn)
c.2576C>A (p.Thr859Asn)
c.2459C>A (p.Thr820Asn)
c.1379C>A (p.Thr460Asn)
9g.114402809_114402820delinsGTCTTGAAGGCCCA1873825339WHRNc.1002_1013delinsGGCCTTCAAGAC (p.Glu334=)
c.2658_2669delinsGGCCTTCAAGAC (p.Glu886=)
c.1631_1642delinsGGCCTTCAAGAC
n.2539_2550delinsGGCCTTCAAGAC
c.1509_1520delinsGGCCTTCAAGAC (p.Glu503=)
c.1605_1616delinsGGCCTTCAAGAC (p.Glu535=)
c.2655_2666delinsGGCCTTCAAGAC (p.Glu885=)
c.1995_2006delinsGGCCTTCAAGAC (p.Glu665=)
c.2691_2702delinsGGCCTTCAAGAC (p.Glu897=)
c.2688_2699delinsGGCCTTCAAGAC (p.Glu896=)
c.2565_2576delinsGGCCTTCAAGAC (p.Glu855=)
c.2448_2459delinsGGCCTTCAAGAC (p.Glu816=)
c.1368_1379delinsGGCCTTCAAGAC (p.Glu456=)
9g.114402810T>ACA374618844WHRNc.1012A>T (p.Thr338Ser)
c.2668A>T (p.Thr890Ser)
c.1641A>T
n.2549A>T
c.1519A>T (p.Thr507Ser)
c.1615A>T (p.Thr539Ser)
c.2665A>T (p.Thr889Ser)
c.2005A>T (p.Thr669Ser)
c.2701A>T (p.Thr901Ser)
c.2698A>T (p.Thr900Ser)
c.2575A>T (p.Thr859Ser)
c.2458A>T (p.Thr820Ser)
c.1378A>T (p.Thr460Ser)
9g.114402810T>CCA374618846WHRNc.1012A>G (p.Thr338Ala)
c.2668A>G (p.Thr890Ala)
c.1641A>G
n.2549A>G
c.1519A>G (p.Thr507Ala)
c.1615A>G (p.Thr539Ala)
c.2665A>G (p.Thr889Ala)
c.2005A>G (p.Thr669Ala)
c.2701A>G (p.Thr901Ala)
c.2698A>G (p.Thr900Ala)
c.2575A>G (p.Thr859Ala)
c.2458A>G (p.Thr820Ala)
c.1378A>G (p.Thr460Ala)
9g.114402810T>GCA374618845WHRNc.1012A>C (p.Thr338Pro)
c.2668A>C (p.Thr890Pro)
c.1641A>C
n.2549A>C
c.1519A>C (p.Thr507Pro)
c.1615A>C (p.Thr539Pro)
c.2665A>C (p.Thr889Pro)
c.2005A>C (p.Thr669Pro)
c.2701A>C (p.Thr901Pro)
c.2698A>C (p.Thr900Pro)
c.2575A>C (p.Thr859Pro)
c.2458A>C (p.Thr820Pro)
c.1378A>C (p.Thr460Pro)
9g.114402812_114402822delCA858984870WHRNc.1002_1012del (p.Glu334AspfsTer2)
c.2658_2668del (p.Glu886AspfsTer2)
c.1631_1641del
n.2539_2549del
c.1509_1519del (p.Glu503AspfsTer2)
c.1605_1615del (p.Glu535AspfsTer2)
c.2655_2665del (p.Glu885AspfsTer2)
c.1995_2005del (p.Glu665AspfsTer2)
c.2691_2701del (p.Glu897AspfsTer2)
c.2688_2698del (p.Glu896AspfsTer2)
c.2565_2575del (p.Glu855AspfsTer2)
c.2448_2458del (p.Glu816AspfsTer2)
c.1368_1378del (p.Glu456AspfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402811C>ACA374618847WHRNc.1011G>T (p.Lys337Asn)
c.2667G>T (p.Lys889Asn)
c.1640G>T
n.2548G>T
c.1518G>T (p.Lys506Asn)
c.1614G>T (p.Lys538Asn)
c.2664G>T (p.Lys888Asn)
c.2004G>T (p.Lys668Asn)
c.2700G>T (p.Lys900Asn)
c.2697G>T (p.Lys899Asn)
c.2574G>T (p.Lys858Asn)
c.2457G>T (p.Lys819Asn)
c.1377G>T (p.Lys459Asn)
9g.114402811C=CA1873825340WHRNc.1011G= (p.Lys337=)
c.2667G= (p.Lys889=)
c.1640G=
n.2548G=
c.1518G= (p.Lys506=)
c.1614G= (p.Lys538=)
c.2664G= (p.Lys888=)
c.2004G= (p.Lys668=)
c.2700G= (p.Lys900=)
c.2697G= (p.Lys899=)
c.2574G= (p.Lys858=)
c.2457G= (p.Lys819=)
c.1377G= (p.Lys459=)
9g.114402811C>GCA374618848WHRNc.1011G>C (p.Lys337Asn)
c.2667G>C (p.Lys889Asn)
c.1640G>C
n.2548G>C
c.1518G>C (p.Lys506Asn)
c.1614G>C (p.Lys538Asn)
c.2664G>C (p.Lys888Asn)
c.2004G>C (p.Lys668Asn)
c.2700G>C (p.Lys900Asn)
c.2697G>C (p.Lys899Asn)
c.2574G>C (p.Lys858Asn)
c.2457G>C (p.Lys819Asn)
c.1377G>C (p.Lys459Asn)
9g.114402811C>TCA466910806WHRNc.1011G>A (p.Lys337=)
c.2667G>A (p.Lys889=)
c.1640G>A
n.2548G>A
c.1518G>A (p.Lys506=)
c.1614G>A (p.Lys538=)
c.2664G>A (p.Lys888=)
c.2004G>A (p.Lys668=)
c.2700G>A (p.Lys900=)
c.2697G>A (p.Lys899=)
c.2574G>A (p.Lys858=)
c.2457G>A (p.Lys819=)
c.1377G>A (p.Lys459=)
 dbSNP gnomAD v4
9g.114402812T>ACA198648746WHRNc.1010A>T (p.Lys337Met)
c.2666A>T (p.Lys889Met)
c.1639A>T
n.2547A>T
c.1517A>T (p.Lys506Met)
c.1613A>T (p.Lys538Met)
c.2663A>T (p.Lys888Met)
c.2003A>T (p.Lys668Met)
c.2699A>T (p.Lys900Met)
c.2696A>T (p.Lys899Met)
c.2573A>T (p.Lys858Met)
c.2456A>T (p.Lys819Met)
c.1376A>T (p.Lys459Met)
 dbSNP gnomAD v4
9g.114402812T>CCA374618849WHRNc.1010A>G (p.Lys337Arg)
c.2666A>G (p.Lys889Arg)
c.1639A>G
n.2547A>G
c.1517A>G (p.Lys506Arg)
c.1613A>G (p.Lys538Arg)
c.2663A>G (p.Lys888Arg)
c.2003A>G (p.Lys668Arg)
c.2699A>G (p.Lys900Arg)
c.2696A>G (p.Lys899Arg)
c.2573A>G (p.Lys858Arg)
c.2456A>G (p.Lys819Arg)
c.1376A>G (p.Lys459Arg)
9g.114402812T>GCA374618850WHRNc.1010A>C (p.Lys337Thr)
c.2666A>C (p.Lys889Thr)
c.1639A>C
n.2547A>C
c.1517A>C (p.Lys506Thr)
c.1613A>C (p.Lys538Thr)
c.2663A>C (p.Lys888Thr)
c.2003A>C (p.Lys668Thr)
c.2699A>C (p.Lys900Thr)
c.2696A>C (p.Lys899Thr)
c.2573A>C (p.Lys858Thr)
c.2456A>C (p.Lys819Thr)
c.1376A>C (p.Lys459Thr)
9g.114402812T=CA1873825341WHRNc.1010A= (p.Lys337=)
c.2666A= (p.Lys889=)
c.1639A=
n.2547A=
c.1517A= (p.Lys506=)
c.1613A= (p.Lys538=)
c.2663A= (p.Lys888=)
c.2003A= (p.Lys668=)
c.2699A= (p.Lys900=)
c.2696A= (p.Lys899=)
c.2573A= (p.Lys858=)
c.2456A= (p.Lys819=)
c.1376A= (p.Lys459=)
9g.114402813T>ACA374618852WHRNc.1009A>T (p.Lys337Ter)
c.2665A>T (p.Lys889Ter)
c.1638A>T
n.2546A>T
c.1516A>T (p.Lys506Ter)
c.1612A>T (p.Lys538Ter)
c.2662A>T (p.Lys888Ter)
c.2002A>T (p.Lys668Ter)
c.2698A>T (p.Lys900Ter)
c.2695A>T (p.Lys899Ter)
c.2572A>T (p.Lys858Ter)
c.2455A>T (p.Lys819Ter)
c.1375A>T (p.Lys459Ter)
9g.114402813T>CCA5205558WHRNc.1009A>G (p.Lys337Glu)
c.2665A>G (p.Lys889Glu)
c.1638A>G
n.2546A>G
c.1516A>G (p.Lys506Glu)
c.1612A>G (p.Lys538Glu)
c.2662A>G (p.Lys888Glu)
c.2002A>G (p.Lys668Glu)
c.2698A>G (p.Lys900Glu)
c.2695A>G (p.Lys899Glu)
c.2572A>G (p.Lys858Glu)
c.2455A>G (p.Lys819Glu)
c.1375A>G (p.Lys459Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402813T>GCA374618851WHRNc.1009A>C (p.Lys337Gln)
c.2665A>C (p.Lys889Gln)
c.1638A>C
n.2546A>C
c.1516A>C (p.Lys506Gln)
c.1612A>C (p.Lys538Gln)
c.2662A>C (p.Lys888Gln)
c.2002A>C (p.Lys668Gln)
c.2698A>C (p.Lys900Gln)
c.2695A>C (p.Lys899Gln)
c.2572A>C (p.Lys858Gln)
c.2455A>C (p.Lys819Gln)
c.1375A>C (p.Lys459Gln)
9g.114402813T=CA1873825342WHRNc.1009A= (p.Lys337=)
c.2665A= (p.Lys889=)
c.1638A=
n.2546A=
c.1516A= (p.Lys506=)
c.1612A= (p.Lys538=)
c.2662A= (p.Lys888=)
c.2002A= (p.Lys668=)
c.2698A= (p.Lys900=)
c.2695A= (p.Lys899=)
c.2572A= (p.Lys858=)
c.2455A= (p.Lys819=)
c.1375A= (p.Lys459=)
9g.114402814G>ACA466910807WHRNc.1008C>T (p.Phe336=)
c.2664C>T (p.Phe888=)
c.1637C>T
n.2545C>T
c.1515C>T (p.Phe505=)
c.1611C>T (p.Phe537=)
c.2661C>T (p.Phe887=)
c.2001C>T (p.Phe667=)
c.2697C>T (p.Phe899=)
c.2694C>T (p.Phe898=)
c.2571C>T (p.Phe857=)
c.2454C>T (p.Phe818=)
c.1374C>T (p.Phe458=)
 dbSNP gnomAD v2 gnomAD v4
9g.114402814G>CCA374618853WHRNc.1008C>G (p.Phe336Leu)
c.2664C>G (p.Phe888Leu)
c.1637C>G
n.2545C>G
c.1515C>G (p.Phe505Leu)
c.1611C>G (p.Phe537Leu)
c.2661C>G (p.Phe887Leu)
c.2001C>G (p.Phe667Leu)
c.2697C>G (p.Phe899Leu)
c.2694C>G (p.Phe898Leu)
c.2571C>G (p.Phe857Leu)
c.2454C>G (p.Phe818Leu)
c.1374C>G (p.Phe458Leu)
9g.114402814G=CA1873825343WHRNc.1008C= (p.Phe336=)
c.2664C= (p.Phe888=)
c.1637C=
n.2545C=
c.1515C= (p.Phe505=)
c.1611C= (p.Phe537=)
c.2661C= (p.Phe887=)
c.2001C= (p.Phe667=)
c.2697C= (p.Phe899=)
c.2694C= (p.Phe898=)
c.2571C= (p.Phe857=)
c.2454C= (p.Phe818=)
c.1374C= (p.Phe458=)
9g.114402814G>TCA374618854WHRNc.1008C>A (p.Phe336Leu)
c.2664C>A (p.Phe888Leu)
c.1637C>A
n.2545C>A
c.1515C>A (p.Phe505Leu)
c.1611C>A (p.Phe537Leu)
c.2661C>A (p.Phe887Leu)
c.2001C>A (p.Phe667Leu)
c.2697C>A (p.Phe899Leu)
c.2694C>A (p.Phe898Leu)
c.2571C>A (p.Phe857Leu)
c.2454C>A (p.Phe818Leu)
c.1374C>A (p.Phe458Leu)
9g.114402815A>CCA374618855WHRNc.1007T>G (p.Phe336Cys)
c.2663T>G (p.Phe888Cys)
c.1636T>G
n.2544T>G
c.1514T>G (p.Phe505Cys)
c.1610T>G (p.Phe537Cys)
c.2660T>G (p.Phe887Cys)
c.2000T>G (p.Phe667Cys)
c.2696T>G (p.Phe899Cys)
c.2693T>G (p.Phe898Cys)
c.2570T>G (p.Phe857Cys)
c.2453T>G (p.Phe818Cys)
c.1373T>G (p.Phe458Cys)
9g.114402815A>GCA374618856WHRNc.1007T>C (p.Phe336Ser)
c.2663T>C (p.Phe888Ser)
c.1636T>C
n.2544T>C
c.1514T>C (p.Phe505Ser)
c.1610T>C (p.Phe537Ser)
c.2660T>C (p.Phe887Ser)
c.2000T>C (p.Phe667Ser)
c.2696T>C (p.Phe899Ser)
c.2693T>C (p.Phe898Ser)
c.2570T>C (p.Phe857Ser)
c.2453T>C (p.Phe818Ser)
c.1373T>C (p.Phe458Ser)
9g.114402815A>TCA374618857WHRNc.1007T>A (p.Phe336Tyr)
c.2663T>A (p.Phe888Tyr)
c.1636T>A
n.2544T>A
c.1514T>A (p.Phe505Tyr)
c.1610T>A (p.Phe537Tyr)
c.2660T>A (p.Phe887Tyr)
c.2000T>A (p.Phe667Tyr)
c.2696T>A (p.Phe899Tyr)
c.2693T>A (p.Phe898Tyr)
c.2570T>A (p.Phe857Tyr)
c.2453T>A (p.Phe818Tyr)
c.1373T>A (p.Phe458Tyr)
9g.114402816A>CCA374618858WHRNc.1006T>G (p.Phe336Val)
c.2662T>G (p.Phe888Val)
c.1635T>G
n.2543T>G
c.1513T>G (p.Phe505Val)
c.1609T>G (p.Phe537Val)
c.2659T>G (p.Phe887Val)
c.1999T>G (p.Phe667Val)
c.2695T>G (p.Phe899Val)
c.2692T>G (p.Phe898Val)
c.2569T>G (p.Phe857Val)
c.2452T>G (p.Phe818Val)
c.1372T>G (p.Phe458Val)
9g.114402816A>GCA374618859WHRNc.1006T>C (p.Phe336Leu)
c.2662T>C (p.Phe888Leu)
c.1635T>C
n.2543T>C
c.1513T>C (p.Phe505Leu)
c.1609T>C (p.Phe537Leu)
c.2659T>C (p.Phe887Leu)
c.1999T>C (p.Phe667Leu)
c.2695T>C (p.Phe899Leu)
c.2692T>C (p.Phe898Leu)
c.2569T>C (p.Phe857Leu)
c.2452T>C (p.Phe818Leu)
c.1372T>C (p.Phe458Leu)
9g.114402816A>TCA374618860WHRNc.1006T>A (p.Phe336Ile)
c.2662T>A (p.Phe888Ile)
c.1635T>A
n.2543T>A
c.1513T>A (p.Phe505Ile)
c.1609T>A (p.Phe537Ile)
c.2659T>A (p.Phe887Ile)
c.1999T>A (p.Phe667Ile)
c.2695T>A (p.Phe899Ile)
c.2692T>A (p.Phe898Ile)
c.2569T>A (p.Phe857Ile)
c.2452T>A (p.Phe818Ile)
c.1372T>A (p.Phe458Ile)
9g.114402817G>ACA466910808WHRNc.1005C>T (p.Ala335=)
c.2661C>T (p.Ala887=)
c.1634C>T
n.2542C>T
c.1512C>T (p.Ala504=)
c.1608C>T (p.Ala536=)
c.2658C>T (p.Ala886=)
c.1998C>T (p.Ala666=)
c.2694C>T (p.Ala898=)
c.2691C>T (p.Ala897=)
c.2568C>T (p.Ala856=)
c.2451C>T (p.Ala817=)
c.1371C>T (p.Ala457=)
9g.114402817G>CCA466910809WHRNc.1005C>G (p.Ala335=)
c.2661C>G (p.Ala887=)
c.1634C>G
n.2542C>G
c.1512C>G (p.Ala504=)
c.1608C>G (p.Ala536=)
c.2658C>G (p.Ala886=)
c.1998C>G (p.Ala666=)
c.2694C>G (p.Ala898=)
c.2691C>G (p.Ala897=)
c.2568C>G (p.Ala856=)
c.2451C>G (p.Ala817=)
c.1371C>G (p.Ala457=)
9g.114402817G>TCA466910810WHRNc.1005C>A (p.Ala335=)
c.2661C>A (p.Ala887=)
c.1634C>A
n.2542C>A
c.1512C>A (p.Ala504=)
c.1608C>A (p.Ala536=)
c.2658C>A (p.Ala886=)
c.1998C>A (p.Ala666=)
c.2694C>A (p.Ala898=)
c.2691C>A (p.Ala897=)
c.2568C>A (p.Ala856=)
c.2451C>A (p.Ala817=)
c.1371C>A (p.Ala457=)
9g.114402817_114402824delCA2691343939WHRNc.998_1005del (p.Ala333ValfsTer4)
c.2654_2661del (p.Ala885ValfsTer4)
c.1627_1634del
n.2535_2542del
c.1505_1512del (p.Ala502ValfsTer4)
c.1601_1608del (p.Ala534ValfsTer4)
c.2651_2658del (p.Ala884ValfsTer4)
c.1991_1998del (p.Ala664ValfsTer4)
c.2687_2694del (p.Ala896ValfsTer4)
c.2684_2691del (p.Ala895ValfsTer4)
c.2561_2568del (p.Ala854ValfsTer4)
c.2444_2451del (p.Ala815ValfsTer4)
c.1364_1371del (p.Ala455ValfsTer4)
 gnomAD v4
9g.114402818G>ACA374618861WHRNc.1004C>T (p.Ala335Val)
c.2660C>T (p.Ala887Val)
c.1633C>T
n.2541C>T
c.1511C>T (p.Ala504Val)
c.1607C>T (p.Ala536Val)
c.2657C>T (p.Ala886Val)
c.1997C>T (p.Ala666Val)
c.2693C>T (p.Ala898Val)
c.2690C>T (p.Ala897Val)
c.2567C>T (p.Ala856Val)
c.2450C>T (p.Ala817Val)
c.1370C>T (p.Ala457Val)
 gnomAD v4
9g.114402818G>CCA5205559WHRNc.1004C>G (p.Ala335Gly)
c.2660C>G (p.Ala887Gly)
c.1633C>G
n.2541C>G
c.1511C>G (p.Ala504Gly)
c.1607C>G (p.Ala536Gly)
c.2657C>G (p.Ala886Gly)
c.1997C>G (p.Ala666Gly)
c.2693C>G (p.Ala898Gly)
c.2690C>G (p.Ala897Gly)
c.2567C>G (p.Ala856Gly)
c.2450C>G (p.Ala817Gly)
c.1370C>G (p.Ala457Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402818G=CA1873825344WHRNc.1004C= (p.Ala335=)
c.2660C= (p.Ala887=)
c.1633C=
n.2541C=
c.1511C= (p.Ala504=)
c.1607C= (p.Ala536=)
c.2657C= (p.Ala886=)
c.1997C= (p.Ala666=)
c.2693C= (p.Ala898=)
c.2690C= (p.Ala897=)
c.2567C= (p.Ala856=)
c.2450C= (p.Ala817=)
c.1370C= (p.Ala457=)
9g.114402818G>TCA374618862WHRNc.1004C>A (p.Ala335Asp)
c.2660C>A (p.Ala887Asp)
c.1633C>A
n.2541C>A
c.1511C>A (p.Ala504Asp)
c.1607C>A (p.Ala536Asp)
c.2657C>A (p.Ala886Asp)
c.1997C>A (p.Ala666Asp)
c.2693C>A (p.Ala898Asp)
c.2690C>A (p.Ala897Asp)
c.2567C>A (p.Ala856Asp)
c.2450C>A (p.Ala817Asp)
c.1370C>A (p.Ala457Asp)
 gnomAD v4
9g.114402819C>ACA374618863WHRNc.1003G>T (p.Ala335Ser)
c.2659G>T (p.Ala887Ser)
c.1632G>T
n.2540G>T
c.1510G>T (p.Ala504Ser)
c.1606G>T (p.Ala536Ser)
c.2656G>T (p.Ala886Ser)
c.1996G>T (p.Ala666Ser)
c.2692G>T (p.Ala898Ser)
c.2689G>T (p.Ala897Ser)
c.2566G>T (p.Ala856Ser)
c.2449G>T (p.Ala817Ser)
c.1369G>T (p.Ala457Ser)
9g.114402819C>GCA374618864WHRNc.1003G>C (p.Ala335Pro)
c.2659G>C (p.Ala887Pro)
c.1632G>C
n.2540G>C
c.1510G>C (p.Ala504Pro)
c.1606G>C (p.Ala536Pro)
c.2656G>C (p.Ala886Pro)
c.1996G>C (p.Ala666Pro)
c.2692G>C (p.Ala898Pro)
c.2689G>C (p.Ala897Pro)
c.2566G>C (p.Ala856Pro)
c.2449G>C (p.Ala817Pro)
c.1369G>C (p.Ala457Pro)
9g.114402819C>TCA374618865WHRNc.1003G>A (p.Ala335Thr)
c.2659G>A (p.Ala887Thr)
c.1632G>A
n.2540G>A
c.1510G>A (p.Ala504Thr)
c.1606G>A (p.Ala536Thr)
c.2656G>A (p.Ala886Thr)
c.1996G>A (p.Ala666Thr)
c.2692G>A (p.Ala898Thr)
c.2689G>A (p.Ala897Thr)
c.2566G>A (p.Ala856Thr)
c.2449G>A (p.Ala817Thr)
c.1369G>A (p.Ala457Thr)
9g.114402820C>ACA374618867WHRNc.1002G>T (p.Glu334Asp)
c.2658G>T (p.Glu886Asp)
c.1631G>T
n.2539G>T
c.1509G>T (p.Glu503Asp)
c.1605G>T (p.Glu535Asp)
c.2655G>T (p.Glu885Asp)
c.1995G>T (p.Glu665Asp)
c.2691G>T (p.Glu897Asp)
c.2688G>T (p.Glu896Asp)
c.2565G>T (p.Glu855Asp)
c.2448G>T (p.Glu816Asp)
c.1368G>T (p.Glu456Asp)
9g.114402820C>GCA374618866WHRNc.1002G>C (p.Glu334Asp)
c.2658G>C (p.Glu886Asp)
c.1631G>C
n.2539G>C
c.1509G>C (p.Glu503Asp)
c.1605G>C (p.Glu535Asp)
c.2655G>C (p.Glu885Asp)
c.1995G>C (p.Glu665Asp)
c.2691G>C (p.Glu897Asp)
c.2688G>C (p.Glu896Asp)
c.2565G>C (p.Glu855Asp)
c.2448G>C (p.Glu816Asp)
c.1368G>C (p.Glu456Asp)
9g.114402820C>TCA466910812WHRNc.1002G>A (p.Glu334=)
c.2658G>A (p.Glu886=)
c.1631G>A
n.2539G>A
c.1509G>A (p.Glu503=)
c.1605G>A (p.Glu535=)
c.2655G>A (p.Glu885=)
c.1995G>A (p.Glu665=)
c.2691G>A (p.Glu897=)
c.2688G>A (p.Glu896=)
c.2565G>A (p.Glu855=)
c.2448G>A (p.Glu816=)
c.1368G>A (p.Glu456=)
 gnomAD v4
9g.114402821T>ACA374618868WHRNc.1001A>T (p.Glu334Val)
c.2657A>T (p.Glu886Val)
c.1630A>T
n.2538A>T
c.1508A>T (p.Glu503Val)
c.1604A>T (p.Glu535Val)
c.2654A>T (p.Glu885Val)
c.1994A>T (p.Glu665Val)
c.2690A>T (p.Glu897Val)
c.2687A>T (p.Glu896Val)
c.2564A>T (p.Glu855Val)
c.2447A>T (p.Glu816Val)
c.1367A>T (p.Glu456Val)
9g.114402821T>CCA374618869WHRNc.1001A>G (p.Glu334Gly)
c.2657A>G (p.Glu886Gly)
c.1630A>G
n.2538A>G
c.1508A>G (p.Glu503Gly)
c.1604A>G (p.Glu535Gly)
c.2654A>G (p.Glu885Gly)
c.1994A>G (p.Glu665Gly)
c.2690A>G (p.Glu897Gly)
c.2687A>G (p.Glu896Gly)
c.2564A>G (p.Glu855Gly)
c.2447A>G (p.Glu816Gly)
c.1367A>G (p.Glu456Gly)
9g.114402821T>GCA374618870WHRNc.1001A>C (p.Glu334Ala)
c.2657A>C (p.Glu886Ala)
c.1630A>C
n.2538A>C
c.1508A>C (p.Glu503Ala)
c.1604A>C (p.Glu535Ala)
c.2654A>C (p.Glu885Ala)
c.1994A>C (p.Glu665Ala)
c.2690A>C (p.Glu897Ala)
c.2687A>C (p.Glu896Ala)
c.2564A>C (p.Glu855Ala)
c.2447A>C (p.Glu816Ala)
c.1367A>C (p.Glu456Ala)
9g.114402822C>ACA374618871WHRNc.1000G>T (p.Glu334Ter)
c.2656G>T (p.Glu886Ter)
c.1629G>T
n.2537G>T
c.1507G>T (p.Glu503Ter)
c.1603G>T (p.Glu535Ter)
c.2653G>T (p.Glu885Ter)
c.1993G>T (p.Glu665Ter)
c.2689G>T (p.Glu897Ter)
c.2686G>T (p.Glu896Ter)
c.2563G>T (p.Glu855Ter)
c.2446G>T (p.Glu816Ter)
c.1366G>T (p.Glu456Ter)
9g.114402822C=CA1873825345WHRNc.1000G= (p.Glu334=)
c.2656G= (p.Glu886=)
c.1629G=
n.2537G=
c.1507G= (p.Glu503=)
c.1603G= (p.Glu535=)
c.2653G= (p.Glu885=)
c.1993G= (p.Glu665=)
c.2689G= (p.Glu897=)
c.2686G= (p.Glu896=)
c.2563G= (p.Glu855=)
c.2446G= (p.Glu816=)
c.1366G= (p.Glu456=)
9g.114402822C>GCA374618872WHRNc.1000G>C (p.Glu334Gln)
c.2656G>C (p.Glu886Gln)
c.1629G>C
n.2537G>C
c.1507G>C (p.Glu503Gln)
c.1603G>C (p.Glu535Gln)
c.2653G>C (p.Glu885Gln)
c.1993G>C (p.Glu665Gln)
c.2689G>C (p.Glu897Gln)
c.2686G>C (p.Glu896Gln)
c.2563G>C (p.Glu855Gln)
c.2446G>C (p.Glu816Gln)
c.1366G>C (p.Glu456Gln)
9g.114402822C>TCA198648756WHRNc.1000G>A (p.Glu334Lys)
c.2656G>A (p.Glu886Lys)
c.1629G>A
n.2537G>A
c.1507G>A (p.Glu503Lys)
c.1603G>A (p.Glu535Lys)
c.2653G>A (p.Glu885Lys)
c.1993G>A (p.Glu665Lys)
c.2689G>A (p.Glu897Lys)
c.2686G>A (p.Glu896Lys)
c.2563G>A (p.Glu855Lys)
c.2446G>A (p.Glu816Lys)
c.1366G>A (p.Glu456Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.114402823G>ACA466910813WHRNc.999C>T (p.Ala333=)
c.2655C>T (p.Ala885=)
c.1628C>T
n.2536C>T
c.1506C>T (p.Ala502=)
c.1602C>T (p.Ala534=)
c.2652C>T (p.Ala884=)
c.1992C>T (p.Ala664=)
c.2688C>T (p.Ala896=)
c.2685C>T (p.Ala895=)
c.2562C>T (p.Ala854=)
c.2445C>T (p.Ala815=)
c.1365C>T (p.Ala455=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402823G>CCA5205560WHRNc.999C>G (p.Ala333=)
c.2655C>G (p.Ala885=)
c.1628C>G
n.2536C>G
c.1506C>G (p.Ala502=)
c.1602C>G (p.Ala534=)
c.2652C>G (p.Ala884=)
c.1992C>G (p.Ala664=)
c.2688C>G (p.Ala896=)
c.2685C>G (p.Ala895=)
c.2562C>G (p.Ala854=)
c.2445C>G (p.Ala815=)
c.1365C>G (p.Ala455=)
 dbSNP ExAC gnomAD v2
9g.114402823G=CA1873825346WHRNc.999C= (p.Ala333=)
c.2655C= (p.Ala885=)
c.1628C=
n.2536C=
c.1506C= (p.Ala502=)
c.1602C= (p.Ala534=)
c.2652C= (p.Ala884=)
c.1992C= (p.Ala664=)
c.2688C= (p.Ala896=)
c.2685C= (p.Ala895=)
c.2562C= (p.Ala854=)
c.2445C= (p.Ala815=)
c.1365C= (p.Ala455=)
9g.114402823G>TCA466910814WHRNc.999C>A (p.Ala333=)
c.2655C>A (p.Ala885=)
c.1628C>A
n.2536C>A
c.1506C>A (p.Ala502=)
c.1602C>A (p.Ala534=)
c.2652C>A (p.Ala884=)
c.1992C>A (p.Ala664=)
c.2688C>A (p.Ala896=)
c.2685C>A (p.Ala895=)
c.2562C>A (p.Ala854=)
c.2445C>A (p.Ala815=)
c.1365C>A (p.Ala455=)
 COSMIC COSMIC
9g.114402824G>ACA374618873WHRNc.998C>T (p.Ala333Val)
c.2654C>T (p.Ala885Val)
c.1627C>T
n.2535C>T
c.1505C>T (p.Ala502Val)
c.1601C>T (p.Ala534Val)
c.2651C>T (p.Ala884Val)
c.1991C>T (p.Ala664Val)
c.2687C>T (p.Ala896Val)
c.2684C>T (p.Ala895Val)
c.2561C>T (p.Ala854Val)
c.2444C>T (p.Ala815Val)
c.1364C>T (p.Ala455Val)
9g.114402824G>CCA374618874WHRNc.998C>G (p.Ala333Gly)
c.2654C>G (p.Ala885Gly)
c.1627C>G
n.2535C>G
c.1505C>G (p.Ala502Gly)
c.1601C>G (p.Ala534Gly)
c.2651C>G (p.Ala884Gly)
c.1991C>G (p.Ala664Gly)
c.2687C>G (p.Ala896Gly)
c.2684C>G (p.Ala895Gly)
c.2561C>G (p.Ala854Gly)
c.2444C>G (p.Ala815Gly)
c.1364C>G (p.Ala455Gly)
9g.114402824G>TCA374618875WHRNc.998C>A (p.Ala333Asp)
c.2654C>A (p.Ala885Asp)
c.1627C>A
n.2535C>A
c.1505C>A (p.Ala502Asp)
c.1601C>A (p.Ala534Asp)
c.2651C>A (p.Ala884Asp)
c.1991C>A (p.Ala664Asp)
c.2687C>A (p.Ala896Asp)
c.2684C>A (p.Ala895Asp)
c.2561C>A (p.Ala854Asp)
c.2444C>A (p.Ala815Asp)
c.1364C>A (p.Ala455Asp)
9g.114402825C>ACA374618876WHRNc.997G>T (p.Ala333Ser)
c.2653G>T (p.Ala885Ser)
c.1626G>T
n.2534G>T
c.1504G>T (p.Ala502Ser)
c.1600G>T (p.Ala534Ser)
c.2650G>T (p.Ala884Ser)
c.1990G>T (p.Ala664Ser)
c.2686G>T (p.Ala896Ser)
c.2683G>T (p.Ala895Ser)
c.2560G>T (p.Ala854Ser)
c.2443G>T (p.Ala815Ser)
c.1363G>T (p.Ala455Ser)
 COSMIC
9g.114402825C=CA1873825347WHRNc.997G= (p.Ala333=)
c.2653G= (p.Ala885=)
c.1626G=
n.2534G=
c.1504G= (p.Ala502=)
c.1600G= (p.Ala534=)
c.2650G= (p.Ala884=)
c.1990G= (p.Ala664=)
c.2686G= (p.Ala896=)
c.2683G= (p.Ala895=)
c.2560G= (p.Ala854=)
c.2443G= (p.Ala815=)
c.1363G= (p.Ala455=)
9g.114402825C>GCA374618877WHRNc.997G>C (p.Ala333Pro)
c.2653G>C (p.Ala885Pro)
c.1626G>C
n.2534G>C
c.1504G>C (p.Ala502Pro)
c.1600G>C (p.Ala534Pro)
c.2650G>C (p.Ala884Pro)
c.1990G>C (p.Ala664Pro)
c.2686G>C (p.Ala896Pro)
c.2683G>C (p.Ala895Pro)
c.2560G>C (p.Ala854Pro)
c.2443G>C (p.Ala815Pro)
c.1363G>C (p.Ala455Pro)
 ClinVar
9g.114402825C>TCA5205561WHRNc.997G>A (p.Ala333Thr)
c.2653G>A (p.Ala885Thr)
c.1626G>A
n.2534G>A
c.1504G>A (p.Ala502Thr)
c.1600G>A (p.Ala534Thr)
c.2650G>A (p.Ala884Thr)
c.1990G>A (p.Ala664Thr)
c.2686G>A (p.Ala896Thr)
c.2683G>A (p.Ala895Thr)
c.2560G>A (p.Ala854Thr)
c.2443G>A (p.Ala815Thr)
c.1363G>A (p.Ala455Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402826G>ACA466910817WHRNc.996C>T (p.Ile332=)
c.2652C>T (p.Ile884=)
c.1625C>T
n.2533C>T
c.1503C>T (p.Ile501=)
c.1599C>T (p.Ile533=)
c.2649C>T (p.Ile883=)
c.1989C>T (p.Ile663=)
c.2685C>T (p.Ile895=)
c.2682C>T (p.Ile894=)
c.2559C>T (p.Ile853=)
c.2442C>T (p.Ile814=)
c.1362C>T (p.Ile454=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402826G>CCA374618878WHRNc.996C>G (p.Ile332Met)
c.2652C>G (p.Ile884Met)
c.1625C>G
n.2533C>G
c.1503C>G (p.Ile501Met)
c.1599C>G (p.Ile533Met)
c.2649C>G (p.Ile883Met)
c.1989C>G (p.Ile663Met)
c.2685C>G (p.Ile895Met)
c.2682C>G (p.Ile894Met)
c.2559C>G (p.Ile853Met)
c.2442C>G (p.Ile814Met)
c.1362C>G (p.Ile454Met)
9g.114402826G=CA1873825348WHRNc.996C= (p.Ile332=)
c.2652C= (p.Ile884=)
c.1625C=
n.2533C=
c.1503C= (p.Ile501=)
c.1599C= (p.Ile533=)
c.2649C= (p.Ile883=)
c.1989C= (p.Ile663=)
c.2685C= (p.Ile895=)
c.2682C= (p.Ile894=)
c.2559C= (p.Ile853=)
c.2442C= (p.Ile814=)
c.1362C= (p.Ile454=)
9g.114402826G>TCA466910818WHRNc.996C>A (p.Ile332=)
c.2652C>A (p.Ile884=)
c.1625C>A
n.2533C>A
c.1503C>A (p.Ile501=)
c.1599C>A (p.Ile533=)
c.2649C>A (p.Ile883=)
c.1989C>A (p.Ile663=)
c.2685C>A (p.Ile895=)
c.2682C>A (p.Ile894=)
c.2559C>A (p.Ile853=)
c.2442C>A (p.Ile814=)
c.1362C>A (p.Ile454=)
9g.114402827A>CCA374618881WHRNc.995T>G (p.Ile332Ser)
c.2651T>G (p.Ile884Ser)
c.1624T>G
n.2532T>G
c.1502T>G (p.Ile501Ser)
c.1598T>G (p.Ile533Ser)
c.2648T>G (p.Ile883Ser)
c.1988T>G (p.Ile663Ser)
c.2684T>G (p.Ile895Ser)
c.2681T>G (p.Ile894Ser)
c.2558T>G (p.Ile853Ser)
c.2441T>G (p.Ile814Ser)
c.1361T>G (p.Ile454Ser)
9g.114402827A>GCA374618879WHRNc.995T>C (p.Ile332Thr)
c.2651T>C (p.Ile884Thr)
c.1624T>C
n.2532T>C
c.1502T>C (p.Ile501Thr)
c.1598T>C (p.Ile533Thr)
c.2648T>C (p.Ile883Thr)
c.1988T>C (p.Ile663Thr)
c.2684T>C (p.Ile895Thr)
c.2681T>C (p.Ile894Thr)
c.2558T>C (p.Ile853Thr)
c.2441T>C (p.Ile814Thr)
c.1361T>C (p.Ile454Thr)
9g.114402827A>TCA374618880WHRNc.995T>A (p.Ile332Asn)
c.2651T>A (p.Ile884Asn)
c.1624T>A
n.2532T>A
c.1502T>A (p.Ile501Asn)
c.1598T>A (p.Ile533Asn)
c.2648T>A (p.Ile883Asn)
c.1988T>A (p.Ile663Asn)
c.2684T>A (p.Ile895Asn)
c.2681T>A (p.Ile894Asn)
c.2558T>A (p.Ile853Asn)
c.2441T>A (p.Ile814Asn)
c.1361T>A (p.Ile454Asn)
9g.114402828T>ACA374618882WHRNc.994A>T (p.Ile332Phe)
c.2650A>T (p.Ile884Phe)
c.1623A>T
n.2531A>T
c.1501A>T (p.Ile501Phe)
c.1597A>T (p.Ile533Phe)
c.2647A>T (p.Ile883Phe)
c.1987A>T (p.Ile663Phe)
c.2683A>T (p.Ile895Phe)
c.2680A>T (p.Ile894Phe)
c.2557A>T (p.Ile853Phe)
c.2440A>T (p.Ile814Phe)
c.1360A>T (p.Ile454Phe)
9g.114402828T>CCA374618883WHRNc.994A>G (p.Ile332Val)
c.2650A>G (p.Ile884Val)
c.1623A>G
n.2531A>G
c.1501A>G (p.Ile501Val)
c.1597A>G (p.Ile533Val)
c.2647A>G (p.Ile883Val)
c.1987A>G (p.Ile663Val)
c.2683A>G (p.Ile895Val)
c.2680A>G (p.Ile894Val)
c.2557A>G (p.Ile853Val)
c.2440A>G (p.Ile814Val)
c.1360A>G (p.Ile454Val)
9g.114402828T>GCA374618884WHRNc.994A>C (p.Ile332Leu)
c.2650A>C (p.Ile884Leu)
c.1623A>C
n.2531A>C
c.1501A>C (p.Ile501Leu)
c.1597A>C (p.Ile533Leu)
c.2647A>C (p.Ile883Leu)
c.1987A>C (p.Ile663Leu)
c.2683A>C (p.Ile895Leu)
c.2680A>C (p.Ile894Leu)
c.2557A>C (p.Ile853Leu)
c.2440A>C (p.Ile814Leu)
c.1360A>C (p.Ile454Leu)
9g.114402829A>CCA374618885WHRNc.993T>G (p.Ile331Met)
c.2649T>G (p.Ile883Met)
c.1622T>G
n.2530T>G
c.1500T>G (p.Ile500Met)
c.1596T>G (p.Ile532Met)
c.2646T>G (p.Ile882Met)
c.1986T>G (p.Ile662Met)
c.2682T>G (p.Ile894Met)
c.2679T>G (p.Ile893Met)
c.2556T>G (p.Ile852Met)
c.2439T>G (p.Ile813Met)
c.1359T>G (p.Ile453Met)
9g.114402829A>GCA466910820WHRNc.993T>C (p.Ile331=)
c.2649T>C (p.Ile883=)
c.1622T>C
n.2530T>C
c.1500T>C (p.Ile500=)
c.1596T>C (p.Ile532=)
c.2646T>C (p.Ile882=)
c.1986T>C (p.Ile662=)
c.2682T>C (p.Ile894=)
c.2679T>C (p.Ile893=)
c.2556T>C (p.Ile852=)
c.2439T>C (p.Ile813=)
c.1359T>C (p.Ile453=)
9g.114402829A>TCA466910822WHRNc.993T>A (p.Ile331=)
c.2649T>A (p.Ile883=)
c.1622T>A
n.2530T>A
c.1500T>A (p.Ile500=)
c.1596T>A (p.Ile532=)
c.2646T>A (p.Ile882=)
c.1986T>A (p.Ile662=)
c.2682T>A (p.Ile894=)
c.2679T>A (p.Ile893=)
c.2556T>A (p.Ile852=)
c.2439T>A (p.Ile813=)
c.1359T>A (p.Ile453=)
9g.114402830A=CA1873825349WHRNc.992T= (p.Ile331=)
c.2648T= (p.Ile883=)
c.1621T=
n.2529T=
c.1499T= (p.Ile500=)
c.1595T= (p.Ile532=)
c.2645T= (p.Ile882=)
c.1985T= (p.Ile662=)
c.2681T= (p.Ile894=)
c.2678T= (p.Ile893=)
c.2555T= (p.Ile852=)
c.2438T= (p.Ile813=)
c.1358T= (p.Ile453=)
9g.114402830A>CCA374618886WHRNc.992T>G (p.Ile331Ser)
c.2648T>G (p.Ile883Ser)
c.1621T>G
n.2529T>G
c.1499T>G (p.Ile500Ser)
c.1595T>G (p.Ile532Ser)
c.2645T>G (p.Ile882Ser)
c.1985T>G (p.Ile662Ser)
c.2681T>G (p.Ile894Ser)
c.2678T>G (p.Ile893Ser)
c.2555T>G (p.Ile852Ser)
c.2438T>G (p.Ile813Ser)
c.1358T>G (p.Ile453Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.114402830A>GCA374618887WHRNc.992T>C (p.Ile331Thr)
c.2648T>C (p.Ile883Thr)
c.1621T>C
n.2529T>C
c.1499T>C (p.Ile500Thr)
c.1595T>C (p.Ile532Thr)
c.2645T>C (p.Ile882Thr)
c.1985T>C (p.Ile662Thr)
c.2681T>C (p.Ile894Thr)
c.2678T>C (p.Ile893Thr)
c.2555T>C (p.Ile852Thr)
c.2438T>C (p.Ile813Thr)
c.1358T>C (p.Ile453Thr)
9g.114402830A>TCA374618888WHRNc.992T>A (p.Ile331Asn)
c.2648T>A (p.Ile883Asn)
c.1621T>A
n.2529T>A
c.1499T>A (p.Ile500Asn)
c.1595T>A (p.Ile532Asn)
c.2645T>A (p.Ile882Asn)
c.1985T>A (p.Ile662Asn)
c.2681T>A (p.Ile894Asn)
c.2678T>A (p.Ile893Asn)
c.2555T>A (p.Ile852Asn)
c.2438T>A (p.Ile813Asn)
c.1358T>A (p.Ile453Asn)
9g.114402831T>ACA374618889WHRNc.991A>T (p.Ile331Phe)
c.2647A>T (p.Ile883Phe)
c.1620A>T
n.2528A>T
c.1498A>T (p.Ile500Phe)
c.1594A>T (p.Ile532Phe)
c.2644A>T (p.Ile882Phe)
c.1984A>T (p.Ile662Phe)
c.2680A>T (p.Ile894Phe)
c.2677A>T (p.Ile893Phe)
c.2554A>T (p.Ile852Phe)
c.2437A>T (p.Ile813Phe)
c.1357A>T (p.Ile453Phe)
9g.114402831T>CCA198648764WHRNc.991A>G (p.Ile331Val)
c.2647A>G (p.Ile883Val)
c.1620A>G
n.2528A>G
c.1498A>G (p.Ile500Val)
c.1594A>G (p.Ile532Val)
c.2644A>G (p.Ile882Val)
c.1984A>G (p.Ile662Val)
c.2680A>G (p.Ile894Val)
c.2677A>G (p.Ile893Val)
c.2554A>G (p.Ile852Val)
c.2437A>G (p.Ile813Val)
c.1357A>G (p.Ile453Val)
 dbSNP gnomAD v4
9g.114402831T>GCA374618890WHRNc.991A>C (p.Ile331Leu)
c.2647A>C (p.Ile883Leu)
c.1620A>C
n.2528A>C
c.1498A>C (p.Ile500Leu)
c.1594A>C (p.Ile532Leu)
c.2644A>C (p.Ile882Leu)
c.1984A>C (p.Ile662Leu)
c.2680A>C (p.Ile894Leu)
c.2677A>C (p.Ile893Leu)
c.2554A>C (p.Ile852Leu)
c.2437A>C (p.Ile813Leu)
c.1357A>C (p.Ile453Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.114402831T=CA1873825350WHRNc.991A= (p.Ile331=)
c.2647A= (p.Ile883=)
c.1620A=
n.2528A=
c.1498A= (p.Ile500=)
c.1594A= (p.Ile532=)
c.2644A= (p.Ile882=)
c.1984A= (p.Ile662=)
c.2680A= (p.Ile894=)
c.2677A= (p.Ile893=)
c.2554A= (p.Ile852=)
c.2437A= (p.Ile813=)
c.1357A= (p.Ile453=)
9g.114402832G>ACA466910824WHRNc.990C>T (p.Arg330=)
c.2646C>T (p.Arg882=)
c.1619C>T
n.2527C>T
c.1497C>T (p.Arg499=)
c.1593C>T (p.Arg531=)
c.2643C>T (p.Arg881=)
c.1983C>T (p.Arg661=)
c.2679C>T (p.Arg893=)
c.2676C>T (p.Arg892=)
c.2553C>T (p.Arg851=)
c.2436C>T (p.Arg812=)
c.1356C>T (p.Arg452=)
 COSMIC COSMIC
9g.114402832G>CCA466910825WHRNc.990C>G (p.Arg330=)
c.2646C>G (p.Arg882=)
c.1619C>G
n.2527C>G
c.1497C>G (p.Arg499=)
c.1593C>G (p.Arg531=)
c.2643C>G (p.Arg881=)
c.1983C>G (p.Arg661=)
c.2679C>G (p.Arg893=)
c.2676C>G (p.Arg892=)
c.2553C>G (p.Arg851=)
c.2436C>G (p.Arg812=)
c.1356C>G (p.Arg452=)
9g.114402832G>TCA466910826WHRNc.990C>A (p.Arg330=)
c.2646C>A (p.Arg882=)
c.1619C>A
n.2527C>A
c.1497C>A (p.Arg499=)
c.1593C>A (p.Arg531=)
c.2643C>A (p.Arg881=)
c.1983C>A (p.Arg661=)
c.2679C>A (p.Arg893=)
c.2676C>A (p.Arg892=)
c.2553C>A (p.Arg851=)
c.2436C>A (p.Arg812=)
c.1356C>A (p.Arg452=)
9g.114402833C>ACA374618892WHRNc.989G>T (p.Arg330Leu)
c.2645G>T (p.Arg882Leu)
c.1618G>T
n.2526G>T
c.1496G>T (p.Arg499Leu)
c.1592G>T (p.Arg531Leu)
c.2642G>T (p.Arg881Leu)
c.1982G>T (p.Arg661Leu)
c.2678G>T (p.Arg893Leu)
c.2675G>T (p.Arg892Leu)
c.2552G>T (p.Arg851Leu)
c.2435G>T (p.Arg812Leu)
c.1355G>T (p.Arg452Leu)
9g.114402833C=CA1873825351WHRNc.989G= (p.Arg330=)
c.2645G= (p.Arg882=)
c.1618G=
n.2526G=
c.1496G= (p.Arg499=)
c.1592G= (p.Arg531=)
c.2642G= (p.Arg881=)
c.1982G= (p.Arg661=)
c.2678G= (p.Arg893=)
c.2675G= (p.Arg892=)
c.2552G= (p.Arg851=)
c.2435G= (p.Arg812=)
c.1355G= (p.Arg452=)
9g.114402833C>GCA374618891WHRNc.989G>C (p.Arg330Pro)
c.2645G>C (p.Arg882Pro)
c.1618G>C
n.2526G>C
c.1496G>C (p.Arg499Pro)
c.1592G>C (p.Arg531Pro)
c.2642G>C (p.Arg881Pro)
c.1982G>C (p.Arg661Pro)
c.2678G>C (p.Arg893Pro)
c.2675G>C (p.Arg892Pro)
c.2552G>C (p.Arg851Pro)
c.2435G>C (p.Arg812Pro)
c.1355G>C (p.Arg452Pro)
9g.114402833C>TCA5205562WHRNc.989G>A (p.Arg330His)
c.2645G>A (p.Arg882His)
c.1618G>A
n.2526G>A
c.1496G>A (p.Arg499His)
c.1592G>A (p.Arg531His)
c.2642G>A (p.Arg881His)
c.1982G>A (p.Arg661His)
c.2678G>A (p.Arg893His)
c.2675G>A (p.Arg892His)
c.2552G>A (p.Arg851His)
c.2435G>A (p.Arg812His)
c.1355G>A (p.Arg452His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402834G>ACA185852WHRNc.988C>T (p.Arg330Cys)
c.2644C>T (p.Arg882Cys)
c.1617C>T
n.2525C>T
c.1495C>T (p.Arg499Cys)
c.1591C>T (p.Arg531Cys)
c.2641C>T (p.Arg881Cys)
c.1981C>T (p.Arg661Cys)
c.2677C>T (p.Arg893Cys)
c.2674C>T (p.Arg892Cys)
c.2551C>T (p.Arg851Cys)
c.2434C>T (p.Arg812Cys)
c.1354C>T (p.Arg452Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402834G>CCA374618893WHRNc.988C>G (p.Arg330Gly)
c.2644C>G (p.Arg882Gly)
c.1617C>G
n.2525C>G
c.1495C>G (p.Arg499Gly)
c.1591C>G (p.Arg531Gly)
c.2641C>G (p.Arg881Gly)
c.1981C>G (p.Arg661Gly)
c.2677C>G (p.Arg893Gly)
c.2674C>G (p.Arg892Gly)
c.2551C>G (p.Arg851Gly)
c.2434C>G (p.Arg812Gly)
c.1354C>G (p.Arg452Gly)
 dbSNP
9g.114402834G=CA1873825352WHRNc.988C= (p.Arg330=)
c.2644C= (p.Arg882=)
c.1617C=
n.2525C=
c.1495C= (p.Arg499=)
c.1591C= (p.Arg531=)
c.2641C= (p.Arg881=)
c.1981C= (p.Arg661=)
c.2677C= (p.Arg893=)
c.2674C= (p.Arg892=)
c.2551C= (p.Arg851=)
c.2434C= (p.Arg812=)
c.1354C= (p.Arg452=)
9g.114402834G>TCA239906WHRNc.988C>A (p.Arg330Ser)
c.2644C>A (p.Arg882Ser)
c.1617C>A
n.2525C>A
c.1495C>A (p.Arg499Ser)
c.1591C>A (p.Arg531Ser)
c.2641C>A (p.Arg881Ser)
c.1981C>A (p.Arg661Ser)
c.2677C>A (p.Arg893Ser)
c.2674C>A (p.Arg892Ser)
c.2551C>A (p.Arg851Ser)
c.2434C>A (p.Arg812Ser)
c.1354C>A (p.Arg452Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402835G>ACA466910828WHRNc.987C>T (p.Ala329=)
c.2643C>T (p.Ala881=)
c.1616C>T
n.2524C>T
c.1494C>T (p.Ala498=)
c.1590C>T (p.Ala530=)
c.2640C>T (p.Ala880=)
c.1980C>T (p.Ala660=)
c.2676C>T (p.Ala892=)
c.2673C>T (p.Ala891=)
c.2550C>T (p.Ala850=)
c.2433C>T (p.Ala811=)
c.1353C>T (p.Ala451=)
9g.114402835G>CCA466910829WHRNc.987C>G (p.Ala329=)
c.2643C>G (p.Ala881=)
c.1616C>G
n.2524C>G
c.1494C>G (p.Ala498=)
c.1590C>G (p.Ala530=)
c.2640C>G (p.Ala880=)
c.1980C>G (p.Ala660=)
c.2676C>G (p.Ala892=)
c.2673C>G (p.Ala891=)
c.2550C>G (p.Ala850=)
c.2433C>G (p.Ala811=)
c.1353C>G (p.Ala451=)
9g.114402835G>TCA466910830WHRNc.987C>A (p.Ala329=)
c.2643C>A (p.Ala881=)
c.1616C>A
n.2524C>A
c.1494C>A (p.Ala498=)
c.1590C>A (p.Ala530=)
c.2640C>A (p.Ala880=)
c.1980C>A (p.Ala660=)
c.2676C>A (p.Ala892=)
c.2673C>A (p.Ala891=)
c.2550C>A (p.Ala850=)
c.2433C>A (p.Ala811=)
c.1353C>A (p.Ala451=)
9g.114402836G>ACA374618894WHRNc.986C>T (p.Ala329Val)
c.2642C>T (p.Ala881Val)
c.1615C>T
n.2523C>T
c.1493C>T (p.Ala498Val)
c.1589C>T (p.Ala530Val)
c.2639C>T (p.Ala880Val)
c.1979C>T (p.Ala660Val)
c.2675C>T (p.Ala892Val)
c.2672C>T (p.Ala891Val)
c.2549C>T (p.Ala850Val)
c.2432C>T (p.Ala811Val)
c.1352C>T (p.Ala451Val)
 gnomAD v4
9g.114402836G>CCA374618895WHRNc.986C>G (p.Ala329Gly)
c.2642C>G (p.Ala881Gly)
c.1615C>G
n.2523C>G
c.1493C>G (p.Ala498Gly)
c.1589C>G (p.Ala530Gly)
c.2639C>G (p.Ala880Gly)
c.1979C>G (p.Ala660Gly)
c.2675C>G (p.Ala892Gly)
c.2672C>G (p.Ala891Gly)
c.2549C>G (p.Ala850Gly)
c.2432C>G (p.Ala811Gly)
c.1352C>G (p.Ala451Gly)
 gnomAD v4
9g.114402836G>TCA374618896WHRNc.986C>A (p.Ala329Asp)
c.2642C>A (p.Ala881Asp)
c.1615C>A
n.2523C>A
c.1493C>A (p.Ala498Asp)
c.1589C>A (p.Ala530Asp)
c.2639C>A (p.Ala880Asp)
c.1979C>A (p.Ala660Asp)
c.2675C>A (p.Ala892Asp)
c.2672C>A (p.Ala891Asp)
c.2549C>A (p.Ala850Asp)
c.2432C>A (p.Ala811Asp)
c.1352C>A (p.Ala451Asp)
9g.114402837C>ACA374618897WHRNc.985G>T (p.Ala329Ser)
c.2641G>T (p.Ala881Ser)
c.1614G>T
n.2522G>T
c.1492G>T (p.Ala498Ser)
c.1588G>T (p.Ala530Ser)
c.2638G>T (p.Ala880Ser)
c.1978G>T (p.Ala660Ser)
c.2674G>T (p.Ala892Ser)
c.2671G>T (p.Ala891Ser)
c.2548G>T (p.Ala850Ser)
c.2431G>T (p.Ala811Ser)
c.1351G>T (p.Ala451Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.114402837C=CA1873825353WHRNc.985G= (p.Ala329=)
c.2641G= (p.Ala881=)
c.1614G=
n.2522G=
c.1492G= (p.Ala498=)
c.1588G= (p.Ala530=)
c.2638G= (p.Ala880=)
c.1978G= (p.Ala660=)
c.2674G= (p.Ala892=)
c.2671G= (p.Ala891=)
c.2548G= (p.Ala850=)
c.2431G= (p.Ala811=)
c.1351G= (p.Ala451=)
9g.114402837C>GCA374618898WHRNc.985G>C (p.Ala329Pro)
c.2641G>C (p.Ala881Pro)
c.1614G>C
n.2522G>C
c.1492G>C (p.Ala498Pro)
c.1588G>C (p.Ala530Pro)
c.2638G>C (p.Ala880Pro)
c.1978G>C (p.Ala660Pro)
c.2674G>C (p.Ala892Pro)
c.2671G>C (p.Ala891Pro)
c.2548G>C (p.Ala850Pro)
c.2431G>C (p.Ala811Pro)
c.1351G>C (p.Ala451Pro)
9g.114402837C>TCA5205563WHRNc.985G>A (p.Ala329Thr)
c.2641G>A (p.Ala881Thr)
c.1614G>A
n.2522G>A
c.1492G>A (p.Ala498Thr)
c.1588G>A (p.Ala530Thr)
c.2638G>A (p.Ala880Thr)
c.1978G>A (p.Ala660Thr)
c.2674G>A (p.Ala892Thr)
c.2671G>A (p.Ala891Thr)
c.2548G>A (p.Ala850Thr)
c.2431G>A (p.Ala811Thr)
c.1351G>A (p.Ala451Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.114402838G>ACA466910832WHRNc.984C>T (p.Ala328=)
c.2640C>T (p.Ala880=)
c.1613C>T
n.2521C>T
c.1491C>T (p.Ala497=)
c.1587C>T (p.Ala529=)
c.2637C>T (p.Ala879=)
c.1977C>T (p.Ala659=)
c.2673C>T (p.Ala891=)
c.2670C>T (p.Ala890=)
c.2547C>T (p.Ala849=)
c.2430C>T (p.Ala810=)
c.1350C>T (p.Ala450=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402838G>CCA466910834WHRNc.984C>G (p.Ala328=)
c.2640C>G (p.Ala880=)
c.1613C>G
n.2521C>G
c.1491C>G (p.Ala497=)
c.1587C>G (p.Ala529=)
c.2637C>G (p.Ala879=)
c.1977C>G (p.Ala659=)
c.2673C>G (p.Ala891=)
c.2670C>G (p.Ala890=)
c.2547C>G (p.Ala849=)
c.2430C>G (p.Ala810=)
c.1350C>G (p.Ala450=)
9g.114402838G=CA1873825354WHRNc.984C= (p.Ala328=)
c.2640C= (p.Ala880=)
c.1613C=
n.2521C=
c.1491C= (p.Ala497=)
c.1587C= (p.Ala529=)
c.2637C= (p.Ala879=)
c.1977C= (p.Ala659=)
c.2673C= (p.Ala891=)
c.2670C= (p.Ala890=)
c.2547C= (p.Ala849=)
c.2430C= (p.Ala810=)
c.1350C= (p.Ala450=)
9g.114402838G>TCA466910835WHRNc.984C>A (p.Ala328=)
c.2640C>A (p.Ala880=)
c.1613C>A
n.2521C>A
c.1491C>A (p.Ala497=)
c.1587C>A (p.Ala529=)
c.2637C>A (p.Ala879=)
c.1977C>A (p.Ala659=)
c.2673C>A (p.Ala891=)
c.2670C>A (p.Ala890=)
c.2547C>A (p.Ala849=)
c.2430C>A (p.Ala810=)
c.1350C>A (p.Ala450=)
9g.114402839G>ACA374618899WHRNc.983C>T (p.Ala328Val)
c.2639C>T (p.Ala880Val)
c.1612C>T
n.2520C>T
c.1490C>T (p.Ala497Val)
c.1586C>T (p.Ala529Val)
c.2636C>T (p.Ala879Val)
c.1976C>T (p.Ala659Val)
c.2672C>T (p.Ala891Val)
c.2669C>T (p.Ala890Val)
c.2546C>T (p.Ala849Val)
c.2429C>T (p.Ala810Val)
c.1349C>T (p.Ala450Val)
9g.114402839G>CCA374618900WHRNc.983C>G (p.Ala328Gly)
c.2639C>G (p.Ala880Gly)
c.1612C>G
n.2520C>G
c.1490C>G (p.Ala497Gly)
c.1586C>G (p.Ala529Gly)
c.2636C>G (p.Ala879Gly)
c.1976C>G (p.Ala659Gly)
c.2672C>G (p.Ala891Gly)
c.2669C>G (p.Ala890Gly)
c.2546C>G (p.Ala849Gly)
c.2429C>G (p.Ala810Gly)
c.1349C>G (p.Ala450Gly)
9g.114402839G>TCA374618901WHRNc.983C>A (p.Ala328Asp)
c.2639C>A (p.Ala880Asp)
c.1612C>A
n.2520C>A
c.1490C>A (p.Ala497Asp)
c.1586C>A (p.Ala529Asp)
c.2636C>A (p.Ala879Asp)
c.1976C>A (p.Ala659Asp)
c.2672C>A (p.Ala891Asp)
c.2669C>A (p.Ala890Asp)
c.2546C>A (p.Ala849Asp)
c.2429C>A (p.Ala810Asp)
c.1349C>A (p.Ala450Asp)
9g.114402840C>ACA374618904WHRNc.982G>T (p.Ala328Ser)
c.2638G>T (p.Ala880Ser)
c.1611G>T
n.2519G>T
c.1489G>T (p.Ala497Ser)
c.1585G>T (p.Ala529Ser)
c.2635G>T (p.Ala879Ser)
c.1975G>T (p.Ala659Ser)
c.2671G>T (p.Ala891Ser)
c.2668G>T (p.Ala890Ser)
c.2545G>T (p.Ala849Ser)
c.2428G>T (p.Ala810Ser)
c.1348G>T (p.Ala450Ser)
 gnomAD v4
9g.114402840C>GCA374618903WHRNc.982G>C (p.Ala328Pro)
c.2638G>C (p.Ala880Pro)
c.1611G>C
n.2519G>C
c.1489G>C (p.Ala497Pro)
c.1585G>C (p.Ala529Pro)
c.2635G>C (p.Ala879Pro)
c.1975G>C (p.Ala659Pro)
c.2671G>C (p.Ala891Pro)
c.2668G>C (p.Ala890Pro)
c.2545G>C (p.Ala849Pro)
c.2428G>C (p.Ala810Pro)
c.1348G>C (p.Ala450Pro)
9g.114402840C>TCA374618902WHRNc.982G>A (p.Ala328Thr)
c.2638G>A (p.Ala880Thr)
c.1611G>A
n.2519G>A
c.1489G>A (p.Ala497Thr)
c.1585G>A (p.Ala529Thr)
c.2635G>A (p.Ala879Thr)
c.1975G>A (p.Ala659Thr)
c.2671G>A (p.Ala891Thr)
c.2668G>A (p.Ala890Thr)
c.2545G>A (p.Ala849Thr)
c.2428G>A (p.Ala810Thr)
c.1348G>A (p.Ala450Thr)
9g.114402841C>ACA374618905WHRNc.981G>T (p.Glu327Asp)
c.2637G>T (p.Glu879Asp)
c.1610G>T
n.2518G>T
c.1488G>T (p.Glu496Asp)
c.1584G>T (p.Glu528Asp)
c.2634G>T (p.Glu878Asp)
c.1974G>T (p.Glu658Asp)
c.2670G>T (p.Glu890Asp)
c.2667G>T (p.Glu889Asp)
c.2544G>T (p.Glu848Asp)
c.2427G>T (p.Glu809Asp)
c.1347G>T (p.Glu449Asp)
9g.114402841C=CA1873825355WHRNc.981G= (p.Glu327=)
c.2637G= (p.Glu879=)
c.1610G=
n.2518G=
c.1488G= (p.Glu496=)
c.1584G= (p.Glu528=)
c.2634G= (p.Glu878=)
c.1974G= (p.Glu658=)
c.2670G= (p.Glu890=)
c.2667G= (p.Glu889=)
c.2544G= (p.Glu848=)
c.2427G= (p.Glu809=)
c.1347G= (p.Glu449=)
9g.114402841C>GCA374618906WHRNc.981G>C (p.Glu327Asp)
c.2637G>C (p.Glu879Asp)
c.1610G>C
n.2518G>C
c.1488G>C (p.Glu496Asp)
c.1584G>C (p.Glu528Asp)
c.2634G>C (p.Glu878Asp)
c.1974G>C (p.Glu658Asp)
c.2670G>C (p.Glu890Asp)
c.2667G>C (p.Glu889Asp)
c.2544G>C (p.Glu848Asp)
c.2427G>C (p.Glu809Asp)
c.1347G>C (p.Glu449Asp)
9g.114402841C>TCA5205564WHRNc.981G>A (p.Glu327=)
c.2637G>A (p.Glu879=)
c.1610G>A
n.2518G>A
c.1488G>A (p.Glu496=)
c.1584G>A (p.Glu528=)
c.2634G>A (p.Glu878=)
c.1974G>A (p.Glu658=)
c.2670G>A (p.Glu890=)
c.2667G>A (p.Glu889=)
c.2544G>A (p.Glu848=)
c.2427G>A (p.Glu809=)
c.1347G>A (p.Glu449=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402842T>ACA374618907WHRNc.980A>T (p.Glu327Val)
c.2636A>T (p.Glu879Val)
c.1609A>T
n.2517A>T
c.1487A>T (p.Glu496Val)
c.1583A>T (p.Glu528Val)
c.2633A>T (p.Glu878Val)
c.1973A>T (p.Glu658Val)
c.2669A>T (p.Glu890Val)
c.2666A>T (p.Glu889Val)
c.2543A>T (p.Glu848Val)
c.2426A>T (p.Glu809Val)
c.1346A>T (p.Glu449Val)
9g.114402842T>CCA374618909WHRNc.980A>G (p.Glu327Gly)
c.2636A>G (p.Glu879Gly)
c.1609A>G
n.2517A>G
c.1487A>G (p.Glu496Gly)
c.1583A>G (p.Glu528Gly)
c.2633A>G (p.Glu878Gly)
c.1973A>G (p.Glu658Gly)
c.2669A>G (p.Glu890Gly)
c.2666A>G (p.Glu889Gly)
c.2543A>G (p.Glu848Gly)
c.2426A>G (p.Glu809Gly)
c.1346A>G (p.Glu449Gly)
9g.114402842T>GCA374618908WHRNc.980A>C (p.Glu327Ala)
c.2636A>C (p.Glu879Ala)
c.1609A>C
n.2517A>C
c.1487A>C (p.Glu496Ala)
c.1583A>C (p.Glu528Ala)
c.2633A>C (p.Glu878Ala)
c.1973A>C (p.Glu658Ala)
c.2669A>C (p.Glu890Ala)
c.2666A>C (p.Glu889Ala)
c.2543A>C (p.Glu848Ala)
c.2426A>C (p.Glu809Ala)
c.1346A>C (p.Glu449Ala)
9g.114402842_114402843delinsTCCA1873825356WHRNc.979_980delinsGA (p.Glu327=)
c.2635_2636delinsGA (p.Glu879=)
c.1608_1609delinsGA
n.2516_2517delinsGA
c.1486_1487delinsGA (p.Glu496=)
c.1582_1583delinsGA (p.Glu528=)
c.2632_2633delinsGA (p.Glu878=)
c.1972_1973delinsGA (p.Glu658=)
c.2668_2669delinsGA (p.Glu890=)
c.2665_2666delinsGA (p.Glu889=)
c.2542_2543delinsGA (p.Glu848=)
c.2425_2426delinsGA (p.Glu809=)
c.1345_1346delinsGA (p.Glu449=)
9g.114402843C>ACA374618910WHRNc.979G>T (p.Glu327Ter)
c.2635G>T (p.Glu879Ter)
c.1608G>T
n.2516G>T
c.1486G>T (p.Glu496Ter)
c.1582G>T (p.Glu528Ter)
c.2632G>T (p.Glu878Ter)
c.1972G>T (p.Glu658Ter)
c.2668G>T (p.Glu890Ter)
c.2665G>T (p.Glu889Ter)
c.2542G>T (p.Glu848Ter)
c.2425G>T (p.Glu809Ter)
c.1345G>T (p.Glu449Ter)
9g.114402843C>GCA374618911WHRNc.979G>C (p.Glu327Gln)
c.2635G>C (p.Glu879Gln)
c.1608G>C
n.2516G>C
c.1486G>C (p.Glu496Gln)
c.1582G>C (p.Glu528Gln)
c.2632G>C (p.Glu878Gln)
c.1972G>C (p.Glu658Gln)
c.2668G>C (p.Glu890Gln)
c.2665G>C (p.Glu889Gln)
c.2542G>C (p.Glu848Gln)
c.2425G>C (p.Glu809Gln)
c.1345G>C (p.Glu449Gln)
9g.114402843C>TCA374618912WHRNc.979G>A (p.Glu327Lys)
c.2635G>A (p.Glu879Lys)
c.1608G>A
n.2516G>A
c.1486G>A (p.Glu496Lys)
c.1582G>A (p.Glu528Lys)
c.2632G>A (p.Glu878Lys)
c.1972G>A (p.Glu658Lys)
c.2668G>A (p.Glu890Lys)
c.2665G>A (p.Glu889Lys)
c.2542G>A (p.Glu848Lys)
c.2425G>A (p.Glu809Lys)
c.1345G>A (p.Glu449Lys)
 COSMIC COSMIC
9g.114402845delCA1873825357WHRNc.979del (p.Glu327ArgfsTer27)
c.2635del (p.Glu879ArgfsTer27)
c.1608del
n.2516del
c.1486del (p.Glu496ArgfsTer27)
c.1582del (p.Glu528ArgfsTer27)
c.2632del (p.Glu878ArgfsTer27)
c.1972del (p.Glu658ArgfsTer27)
c.2668del (p.Glu890ArgfsTer27)
c.2665del (p.Glu889ArgfsTer27)
c.2542del (p.Glu848ArgfsTer27)
c.2425del (p.Glu809ArgfsTer27)
c.1345del (p.Glu449ArgfsTer27)
 dbSNP
9g.114402844C>ACA466910840WHRNc.978G>T (p.Arg326=)
c.2634G>T (p.Arg878=)
c.1607G>T
n.2515G>T
c.1485G>T (p.Arg495=)
c.1581G>T (p.Arg527=)
c.2631G>T (p.Arg877=)
c.1971G>T (p.Arg657=)
c.2667G>T (p.Arg889=)
c.2664G>T (p.Arg888=)
c.2541G>T (p.Arg847=)
c.2424G>T (p.Arg808=)
c.1344G>T (p.Arg448=)
9g.114402844C>GCA466910841WHRNc.978G>C (p.Arg326=)
c.2634G>C (p.Arg878=)
c.1607G>C
n.2515G>C
c.1485G>C (p.Arg495=)
c.1581G>C (p.Arg527=)
c.2631G>C (p.Arg877=)
c.1971G>C (p.Arg657=)
c.2667G>C (p.Arg889=)
c.2664G>C (p.Arg888=)
c.2541G>C (p.Arg847=)
c.2424G>C (p.Arg808=)
c.1344G>C (p.Arg448=)
9g.114402844C>TCA466910842WHRNc.978G>A (p.Arg326=)
c.2634G>A (p.Arg878=)
c.1607G>A
n.2515G>A
c.1485G>A (p.Arg495=)
c.1581G>A (p.Arg527=)
c.2631G>A (p.Arg877=)
c.1971G>A (p.Arg657=)
c.2667G>A (p.Arg889=)
c.2664G>A (p.Arg888=)
c.2541G>A (p.Arg847=)
c.2424G>A (p.Arg808=)
c.1344G>A (p.Arg448=)
9g.114402845C>ACA374618913WHRNc.977G>T (p.Arg326Leu)
c.2633G>T (p.Arg878Leu)
c.1606G>T
n.2514G>T
c.1484G>T (p.Arg495Leu)
c.1580G>T (p.Arg527Leu)
c.2630G>T (p.Arg877Leu)
c.1970G>T (p.Arg657Leu)
c.2666G>T (p.Arg889Leu)
c.2663G>T (p.Arg888Leu)
c.2540G>T (p.Arg847Leu)
c.2423G>T (p.Arg808Leu)
c.1343G>T (p.Arg448Leu)
 COSMIC COSMIC
9g.114402845C=CA1873825358WHRNc.977G= (p.Arg326=)
c.2633G= (p.Arg878=)
c.1606G=
n.2514G=
c.1484G= (p.Arg495=)
c.1580G= (p.Arg527=)
c.2630G= (p.Arg877=)
c.1970G= (p.Arg657=)
c.2666G= (p.Arg889=)
c.2663G= (p.Arg888=)
c.2540G= (p.Arg847=)
c.2423G= (p.Arg808=)
c.1343G= (p.Arg448=)
9g.114402845C>GCA374618914WHRNc.977G>C (p.Arg326Pro)
c.2633G>C (p.Arg878Pro)
c.1606G>C
n.2514G>C
c.1484G>C (p.Arg495Pro)
c.1580G>C (p.Arg527Pro)
c.2630G>C (p.Arg877Pro)
c.1970G>C (p.Arg657Pro)
c.2666G>C (p.Arg889Pro)
c.2663G>C (p.Arg888Pro)
c.2540G>C (p.Arg847Pro)
c.2423G>C (p.Arg808Pro)
c.1343G>C (p.Arg448Pro)
9g.114402845C>TCA5205565WHRNc.977G>A (p.Arg326Gln)
c.2633G>A (p.Arg878Gln)
c.1606G>A
n.2514G>A
c.1484G>A (p.Arg495Gln)
c.1580G>A (p.Arg527Gln)
c.2630G>A (p.Arg877Gln)
c.1970G>A (p.Arg657Gln)
c.2666G>A (p.Arg889Gln)
c.2663G>A (p.Arg888Gln)
c.2540G>A (p.Arg847Gln)
c.2423G>A (p.Arg808Gln)
c.1343G>A (p.Arg448Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402846G>ACA198648773WHRNc.976C>T (p.Arg326Trp)
c.2632C>T (p.Arg878Trp)
c.1605C>T
n.2513C>T
c.1483C>T (p.Arg495Trp)
c.1579C>T (p.Arg527Trp)
c.2629C>T (p.Arg877Trp)
c.1969C>T (p.Arg657Trp)
c.2665C>T (p.Arg889Trp)
c.2662C>T (p.Arg888Trp)
c.2539C>T (p.Arg847Trp)
c.2422C>T (p.Arg808Trp)
c.1342C>T (p.Arg448Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402846G>CCA374618915WHRNc.976C>G (p.Arg326Gly)
c.2632C>G (p.Arg878Gly)
c.1605C>G
n.2513C>G
c.1483C>G (p.Arg495Gly)
c.1579C>G (p.Arg527Gly)
c.2629C>G (p.Arg877Gly)
c.1969C>G (p.Arg657Gly)
c.2665C>G (p.Arg889Gly)
c.2662C>G (p.Arg888Gly)
c.2539C>G (p.Arg847Gly)
c.2422C>G (p.Arg808Gly)
c.1342C>G (p.Arg448Gly)
9g.114402846G=CA1873825359WHRNc.976C= (p.Arg326=)
c.2632C= (p.Arg878=)
c.1605C=
n.2513C=
c.1483C= (p.Arg495=)
c.1579C= (p.Arg527=)
c.2629C= (p.Arg877=)
c.1969C= (p.Arg657=)
c.2665C= (p.Arg889=)
c.2662C= (p.Arg888=)
c.2539C= (p.Arg847=)
c.2422C= (p.Arg808=)
c.1342C= (p.Arg448=)
9g.114402846G>TCA466910845WHRNc.976C>A (p.Arg326=)
c.2632C>A (p.Arg878=)
c.1605C>A
n.2513C>A
c.1483C>A (p.Arg495=)
c.1579C>A (p.Arg527=)
c.2629C>A (p.Arg877=)
c.1969C>A (p.Arg657=)
c.2665C>A (p.Arg889=)
c.2662C>A (p.Arg888=)
c.2539C>A (p.Arg847=)
c.2422C>A (p.Arg808=)
c.1342C>A (p.Arg448=)
9g.114402847G>ACA5205566WHRNc.975C>T (p.His325=)
c.2631C>T (p.His877=)
c.1604C>T
n.2512C>T
c.1482C>T (p.His494=)
c.1578C>T (p.His526=)
c.2628C>T (p.His876=)
c.1968C>T (p.His656=)
c.2664C>T (p.His888=)
c.2661C>T (p.His887=)
c.2538C>T (p.His846=)
c.2421C>T (p.His807=)
c.1341C>T (p.His447=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402847G>CCA374618916WHRNc.975C>G (p.His325Gln)
c.2631C>G (p.His877Gln)
c.1604C>G
n.2512C>G
c.1482C>G (p.His494Gln)
c.1578C>G (p.His526Gln)
c.2628C>G (p.His876Gln)
c.1968C>G (p.His656Gln)
c.2664C>G (p.His888Gln)
c.2661C>G (p.His887Gln)
c.2538C>G (p.His846Gln)
c.2421C>G (p.His807Gln)
c.1341C>G (p.His447Gln)
9g.114402847G=CA1873825360WHRNc.975C= (p.His325=)
c.2631C= (p.His877=)
c.1604C=
n.2512C=
c.1482C= (p.His494=)
c.1578C= (p.His526=)
c.2628C= (p.His876=)
c.1968C= (p.His656=)
c.2664C= (p.His888=)
c.2661C= (p.His887=)
c.2538C= (p.His846=)
c.2421C= (p.His807=)
c.1341C= (p.His447=)
9g.114402847G>TCA374618917WHRNc.975C>A (p.His325Gln)
c.2631C>A (p.His877Gln)
c.1604C>A
n.2512C>A
c.1482C>A (p.His494Gln)
c.1578C>A (p.His526Gln)
c.2628C>A (p.His876Gln)
c.1968C>A (p.His656Gln)
c.2664C>A (p.His888Gln)
c.2661C>A (p.His887Gln)
c.2538C>A (p.His846Gln)
c.2421C>A (p.His807Gln)
c.1341C>A (p.His447Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched