Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197088365T>ACA343998333ASPMn.3339A>T
c.10052A>T (p.Gln3351Leu)
c.10274A>T (p.Gln3425Leu)
c.10028A>T (p.Gln3343Leu)
c.5297A>T (p.Gln1766Leu)
c.3047A>T (p.Gln1016Leu)
c.4010A>T (p.Gln1337Leu)
1g.197088365T>CCA343998335ASPMn.3339A>G
c.10052A>G (p.Gln3351Arg)
c.10274A>G (p.Gln3425Arg)
c.10028A>G (p.Gln3343Arg)
c.5297A>G (p.Gln1766Arg)
c.3047A>G (p.Gln1016Arg)
c.4010A>G (p.Gln1337Arg)
1g.197088365T>GCA343998339ASPMn.3339A>C
c.10052A>C (p.Gln3351Pro)
c.10274A>C (p.Gln3425Pro)
c.10028A>C (p.Gln3343Pro)
c.5297A>C (p.Gln1766Pro)
c.3047A>C (p.Gln1016Pro)
c.4010A>C (p.Gln1337Pro)
1g.197088366G>ACA343998352ASPMn.3338C>T
c.10051C>T (p.Gln3351Ter)
c.10273C>T (p.Gln3425Ter)
c.10027C>T (p.Gln3343Ter)
c.5296C>T (p.Gln1766Ter)
c.3046C>T (p.Gln1016Ter)
c.4009C>T (p.Gln1337Ter)
1g.197088366G>CCA343998347ASPMn.3338C>G
c.10051C>G (p.Gln3351Glu)
c.10273C>G (p.Gln3425Glu)
c.10027C>G (p.Gln3343Glu)
c.5296C>G (p.Gln1766Glu)
c.3046C>G (p.Gln1016Glu)
c.4009C>G (p.Gln1337Glu)
1g.197088366G>TCA343998344ASPMn.3338C>A
c.10051C>A (p.Gln3351Lys)
c.10273C>A (p.Gln3425Lys)
c.10027C>A (p.Gln3343Lys)
c.5296C>A (p.Gln1766Lys)
c.3046C>A (p.Gln1016Lys)
c.4009C>A (p.Gln1337Lys)
1g.197088367C>ACA343998354ASPMn.3337G>T
c.10050G>T (p.Leu3350Phe)
c.10272G>T (p.Leu3424Phe)
c.10026G>T (p.Leu3342Phe)
c.5295G>T (p.Leu1765Phe)
c.3045G>T (p.Leu1015Phe)
c.4008G>T (p.Leu1336Phe)
1g.197088367C=CA1217923566ASPMn.3337G=
c.10050G= (p.Leu3350=)
c.10272G= (p.Leu3424=)
c.10026G= (p.Leu3342=)
c.5295G= (p.Leu1765=)
c.3045G= (p.Leu1015=)
c.4008G= (p.Leu1336=)
1g.197088367C>GCA343998357ASPMn.3337G>C
c.10050G>C (p.Leu3350Phe)
c.10272G>C (p.Leu3424Phe)
c.10026G>C (p.Leu3342Phe)
c.5295G>C (p.Leu1765Phe)
c.3045G>C (p.Leu1015Phe)
c.4008G>C (p.Leu1336Phe)
1g.197088367C>TCA35861089ASPMn.3337G>A
c.10050G>A (p.Leu3350=)
c.10272G>A (p.Leu3424=)
c.10026G>A (p.Leu3342=)
c.5295G>A (p.Leu1765=)
c.3045G>A (p.Leu1015=)
c.4008G>A (p.Leu1336=)
 dbSNP
1g.197088368A>CCA343998362ASPMn.3336T>G
c.10049T>G (p.Leu3350Trp)
c.10271T>G (p.Leu3424Trp)
c.10025T>G (p.Leu3342Trp)
c.5294T>G (p.Leu1765Trp)
c.3044T>G (p.Leu1015Trp)
c.4007T>G (p.Leu1336Trp)
1g.197088368A>GCA343998373ASPMn.3336T>C
c.10049T>C (p.Leu3350Ser)
c.10271T>C (p.Leu3424Ser)
c.10025T>C (p.Leu3342Ser)
c.5294T>C (p.Leu1765Ser)
c.3044T>C (p.Leu1015Ser)
c.4007T>C (p.Leu1336Ser)
1g.197088368A>TCA343998386ASPMn.3336T>A
c.10049T>A (p.Leu3350Ter)
c.10271T>A (p.Leu3424Ter)
c.10025T>A (p.Leu3342Ter)
c.5294T>A (p.Leu1765Ter)
c.3044T>A (p.Leu1015Ter)
c.4007T>A (p.Leu1336Ter)
1g.197088371delCA2649660433ASPMn.3336del
c.10049del (p.Leu3350CysfsTer?)
c.10271del (p.Leu3424CysfsTer?)
c.10025del (p.Leu3342CysfsTer?)
c.5294del (p.Leu1765CysfsTer?)
c.3044del (p.Leu1015CysfsTer?)
c.4007del (p.Leu1336CysfsTer?)
 gnomAD v4
1g.197088369A>CCA343998397ASPMn.3335T>G
c.10048T>G (p.Leu3350Val)
c.10270T>G (p.Leu3424Val)
c.10024T>G (p.Leu3342Val)
c.5293T>G (p.Leu1765Val)
c.3043T>G (p.Leu1015Val)
c.4006T>G (p.Leu1336Val)
1g.197088369A>GCA422672209ASPMn.3335T>C
c.10048T>C (p.Leu3350=)
c.10270T>C (p.Leu3424=)
c.10024T>C (p.Leu3342=)
c.5293T>C (p.Leu1765=)
c.3043T>C (p.Leu1015=)
c.4006T>C (p.Leu1336=)
1g.197088369A>TCA343998399ASPMn.3335T>A
c.10048T>A (p.Leu3350Met)
c.10270T>A (p.Leu3424Met)
c.10024T>A (p.Leu3342Met)
c.5293T>A (p.Leu1765Met)
c.3043T>A (p.Leu1015Met)
c.4006T>A (p.Leu1336Met)
1g.197088370A>CCA422672210ASPMn.3334T>G
c.10047T>G (p.Leu3349=)
c.10269T>G (p.Leu3423=)
c.10023T>G (p.Leu3341=)
c.5292T>G (p.Leu1764=)
c.3042T>G (p.Leu1014=)
c.4005T>G (p.Leu1335=)
1g.197088370A>GCA422672211ASPMn.3334T>C
c.10047T>C (p.Leu3349=)
c.10269T>C (p.Leu3423=)
c.10023T>C (p.Leu3341=)
c.5292T>C (p.Leu1764=)
c.3042T>C (p.Leu1014=)
c.4005T>C (p.Leu1335=)
1g.197088370A>TCA422672212ASPMn.3334T>A
c.10047T>A (p.Leu3349=)
c.10269T>A (p.Leu3423=)
c.10023T>A (p.Leu3341=)
c.5292T>A (p.Leu1764=)
c.3042T>A (p.Leu1014=)
c.4005T>A (p.Leu1335=)
1g.197088371A>CCA343998409ASPMn.3333T>G
c.10046T>G (p.Leu3349Arg)
c.10268T>G (p.Leu3423Arg)
c.10022T>G (p.Leu3341Arg)
c.5291T>G (p.Leu1764Arg)
c.3041T>G (p.Leu1014Arg)
c.4004T>G (p.Leu1335Arg)
1g.197088371A>GCA343998407ASPMn.3333T>C
c.10046T>C (p.Leu3349Pro)
c.10268T>C (p.Leu3423Pro)
c.10022T>C (p.Leu3341Pro)
c.5291T>C (p.Leu1764Pro)
c.3041T>C (p.Leu1014Pro)
c.4004T>C (p.Leu1335Pro)
1g.197088371A>TCA343998408ASPMn.3333T>A
c.10046T>A (p.Leu3349His)
c.10268T>A (p.Leu3423His)
c.10022T>A (p.Leu3341His)
c.5291T>A (p.Leu1764His)
c.3041T>A (p.Leu1014His)
c.4004T>A (p.Leu1335His)
1g.197088372G>ACA343998410ASPMn.3332C>T
c.10045C>T (p.Leu3349Phe)
c.10267C>T (p.Leu3423Phe)
c.10021C>T (p.Leu3341Phe)
c.5290C>T (p.Leu1764Phe)
c.3040C>T (p.Leu1014Phe)
c.4003C>T (p.Leu1335Phe)
1g.197088372G>CCA343998411ASPMn.3332C>G
c.10045C>G (p.Leu3349Val)
c.10267C>G (p.Leu3423Val)
c.10021C>G (p.Leu3341Val)
c.5290C>G (p.Leu1764Val)
c.3040C>G (p.Leu1014Val)
c.4003C>G (p.Leu1335Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197088372G=CA1217923568ASPMn.3332C=
c.10045C= (p.Leu3349=)
c.10267C= (p.Leu3423=)
c.10021C= (p.Leu3341=)
c.5290C= (p.Leu1764=)
c.3040C= (p.Leu1014=)
c.4003C= (p.Leu1335=)
1g.197088372G>TCA343998414ASPMn.3332C>A
c.10045C>A (p.Leu3349Ile)
c.10267C>A (p.Leu3423Ile)
c.10021C>A (p.Leu3341Ile)
c.5290C>A (p.Leu1764Ile)
c.3040C>A (p.Leu1014Ile)
c.4003C>A (p.Leu1335Ile)
1g.197088373C>ACA343998418ASPMn.3331G>T
c.10044G>T (p.Glu3348Asp)
c.10266G>T (p.Glu3422Asp)
c.10020G>T (p.Glu3340Asp)
c.5289G>T (p.Glu1763Asp)
c.3039G>T (p.Glu1013Asp)
c.4002G>T (p.Glu1334Asp)
 dbSNP
1g.197088373C=CA1217923570ASPMn.3331G=
c.10044G= (p.Glu3348=)
c.10266G= (p.Glu3422=)
c.10020G= (p.Glu3340=)
c.5289G= (p.Glu1763=)
c.3039G= (p.Glu1013=)
c.4002G= (p.Glu1334=)
1g.197088373C>GCA343998420ASPMn.3331G>C
c.10044G>C (p.Glu3348Asp)
c.10266G>C (p.Glu3422Asp)
c.10020G>C (p.Glu3340Asp)
c.5289G>C (p.Glu1763Asp)
c.3039G>C (p.Glu1013Asp)
c.4002G>C (p.Glu1334Asp)
1g.197088373C>TCA422672213ASPMn.3331G>A
c.10044G>A (p.Glu3348=)
c.10266G>A (p.Glu3422=)
c.10020G>A (p.Glu3340=)
c.5289G>A (p.Glu1763=)
c.3039G>A (p.Glu1013=)
c.4002G>A (p.Glu1334=)
1g.197088374T>ACA343998423ASPMn.3330A>T
c.10043A>T (p.Glu3348Val)
c.10265A>T (p.Glu3422Val)
c.10019A>T (p.Glu3340Val)
c.5288A>T (p.Glu1763Val)
c.3038A>T (p.Glu1013Val)
c.4001A>T (p.Glu1334Val)
1g.197088374T>CCA343998432ASPMn.3330A>G
c.10043A>G (p.Glu3348Gly)
c.10265A>G (p.Glu3422Gly)
c.10019A>G (p.Glu3340Gly)
c.5288A>G (p.Glu1763Gly)
c.3038A>G (p.Glu1013Gly)
c.4001A>G (p.Glu1334Gly)
 gnomAD v4
1g.197088374T>GCA343998428ASPMn.3330A>C
c.10043A>C (p.Glu3348Ala)
c.10265A>C (p.Glu3422Ala)
c.10019A>C (p.Glu3340Ala)
c.5288A>C (p.Glu1763Ala)
c.3038A>C (p.Glu1013Ala)
c.4001A>C (p.Glu1334Ala)
1g.197088375C>ACA343998436ASPMn.3329G>T
c.10042G>T (p.Glu3348Ter)
c.10264G>T (p.Glu3422Ter)
c.10018G>T (p.Glu3340Ter)
c.5287G>T (p.Glu1763Ter)
c.3037G>T (p.Glu1013Ter)
c.4000G>T (p.Glu1334Ter)
1g.197088375C>GCA343998439ASPMn.3329G>C
c.10042G>C (p.Glu3348Gln)
c.10264G>C (p.Glu3422Gln)
c.10018G>C (p.Glu3340Gln)
c.5287G>C (p.Glu1763Gln)
c.3037G>C (p.Glu1013Gln)
c.4000G>C (p.Glu1334Gln)
1g.197088375C>TCA343998443ASPMn.3329G>A
c.10042G>A (p.Glu3348Lys)
c.10264G>A (p.Glu3422Lys)
c.10018G>A (p.Glu3340Lys)
c.5287G>A (p.Glu1763Lys)
c.3037G>A (p.Glu1013Lys)
c.4000G>A (p.Glu1334Lys)
1g.197088376C>ACA343998446ASPMn.3328G>T
c.10041G>T (p.Leu3347Phe)
c.10263G>T (p.Leu3421Phe)
c.10017G>T (p.Leu3339Phe)
c.5286G>T (p.Leu1762Phe)
c.3036G>T (p.Leu1012Phe)
c.3999G>T (p.Leu1333Phe)
1g.197088376C=CA1143210877ASPMn.3328G=
c.10041G= (p.Leu3347=)
c.10263G= (p.Leu3421=)
c.10017G= (p.Leu3339=)
c.5286G= (p.Leu1762=)
c.3036G= (p.Leu1012=)
c.3999G= (p.Leu1333=)
1g.197088376C>GCA343998449ASPMn.3328G>C
c.10041G>C (p.Leu3347Phe)
c.10263G>C (p.Leu3421Phe)
c.10017G>C (p.Leu3339Phe)
c.5286G>C (p.Leu1762Phe)
c.3036G>C (p.Leu1012Phe)
c.3999G>C (p.Leu1333Phe)
1g.197088376C>TCA1308804ASPMn.3328G>A
c.10041G>A (p.Leu3347=)
c.10263G>A (p.Leu3421=)
c.10017G>A (p.Leu3339=)
c.5286G>A (p.Leu1762=)
c.3036G>A (p.Leu1012=)
c.3999G>A (p.Leu1333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088377A>CCA343998463ASPMn.3327T>G
c.10040T>G (p.Leu3347Trp)
c.10262T>G (p.Leu3421Trp)
c.10016T>G (p.Leu3339Trp)
c.5285T>G (p.Leu1762Trp)
c.3035T>G (p.Leu1012Trp)
c.3998T>G (p.Leu1333Trp)
1g.197088377A>GCA343998484ASPMn.3327T>C
c.10040T>C (p.Leu3347Ser)
c.10262T>C (p.Leu3421Ser)
c.10016T>C (p.Leu3339Ser)
c.5285T>C (p.Leu1762Ser)
c.3035T>C (p.Leu1012Ser)
c.3998T>C (p.Leu1333Ser)
 gnomAD v4
1g.197088377A>TCA343998491ASPMn.3327T>A
c.10040T>A (p.Leu3347Ter)
c.10262T>A (p.Leu3421Ter)
c.10016T>A (p.Leu3339Ter)
c.5285T>A (p.Leu1762Ter)
c.3035T>A (p.Leu1012Ter)
c.3998T>A (p.Leu1333Ter)
1g.197088378A=CA1217923574ASPMn.3326T=
c.10039T= (p.Leu3347=)
c.10261T= (p.Leu3421=)
c.10015T= (p.Leu3339=)
c.5284T= (p.Leu1762=)
c.3034T= (p.Leu1012=)
c.3997T= (p.Leu1333=)
1g.197088378A>CCA343998495ASPMn.3326T>G
c.10039T>G (p.Leu3347Val)
c.10261T>G (p.Leu3421Val)
c.10015T>G (p.Leu3339Val)
c.5284T>G (p.Leu1762Val)
c.3034T>G (p.Leu1012Val)
c.3997T>G (p.Leu1333Val)
1g.197088378A>GCA10608701ASPMn.3326T>C
c.10039T>C (p.Leu3347=)
c.10261T>C (p.Leu3421=)
c.10015T>C (p.Leu3339=)
c.5284T>C (p.Leu1762=)
c.3034T>C (p.Leu1012=)
c.3997T>C (p.Leu1333=)
 ClinVar dbSNP gnomAD v4
1g.197088378A>TCA343998506ASPMn.3326T>A
c.10039T>A (p.Leu3347Met)
c.10261T>A (p.Leu3421Met)
c.10015T>A (p.Leu3339Met)
c.5284T>A (p.Leu1762Met)
c.3034T>A (p.Leu1012Met)
c.3997T>A (p.Leu1333Met)
1g.197088379T>ACA422672215ASPMn.3325A>T
c.10038A>T (p.Leu3346=)
c.10260A>T (p.Leu3420=)
c.10014A>T (p.Leu3338=)
c.5283A>T (p.Leu1761=)
c.3033A>T (p.Leu1011=)
c.3996A>T (p.Leu1332=)
1g.197088379T>CCA422672216ASPMn.3325A>G
c.10038A>G (p.Leu3346=)
c.10260A>G (p.Leu3420=)
c.10014A>G (p.Leu3338=)
c.5283A>G (p.Leu1761=)
c.3033A>G (p.Leu1011=)
c.3996A>G (p.Leu1332=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088379T>GCA422672217ASPMn.3325A>C
c.10038A>C (p.Leu3346=)
c.10260A>C (p.Leu3420=)
c.10014A>C (p.Leu3338=)
c.5283A>C (p.Leu1761=)
c.3033A>C (p.Leu1011=)
c.3996A>C (p.Leu1332=)
1g.197088379T=CA1217923576ASPMn.3325A=
c.10038A= (p.Leu3346=)
c.10260A= (p.Leu3420=)
c.10014A= (p.Leu3338=)
c.5283A= (p.Leu1761=)
c.3033A= (p.Leu1011=)
c.3996A= (p.Leu1332=)
1g.197088380A>CCA343998511ASPMn.3324T>G
c.10037T>G (p.Leu3346Arg)
c.10259T>G (p.Leu3420Arg)
c.10013T>G (p.Leu3338Arg)
c.5282T>G (p.Leu1761Arg)
c.3032T>G (p.Leu1011Arg)
c.3995T>G (p.Leu1332Arg)
1g.197088380A>GCA343998516ASPMn.3324T>C
c.10037T>C (p.Leu3346Pro)
c.10259T>C (p.Leu3420Pro)
c.10013T>C (p.Leu3338Pro)
c.5282T>C (p.Leu1761Pro)
c.3032T>C (p.Leu1011Pro)
c.3995T>C (p.Leu1332Pro)
 gnomAD v4
1g.197088380A>TCA343998513ASPMn.3324T>A
c.10037T>A (p.Leu3346Gln)
c.10259T>A (p.Leu3420Gln)
c.10013T>A (p.Leu3338Gln)
c.5282T>A (p.Leu1761Gln)
c.3032T>A (p.Leu1011Gln)
c.3995T>A (p.Leu1332Gln)
1g.197088381G>ACA422672218ASPMn.3323C>T
c.10036C>T (p.Leu3346=)
c.10258C>T (p.Leu3420=)
c.10012C>T (p.Leu3338=)
c.5281C>T (p.Leu1761=)
c.3031C>T (p.Leu1011=)
c.3994C>T (p.Leu1332=)
1g.197088381G>CCA343998525ASPMn.3323C>G
c.10036C>G (p.Leu3346Val)
c.10258C>G (p.Leu3420Val)
c.10012C>G (p.Leu3338Val)
c.5281C>G (p.Leu1761Val)
c.3031C>G (p.Leu1011Val)
c.3994C>G (p.Leu1332Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197088381G=CA1217923579ASPMn.3323C=
c.10036C= (p.Leu3346=)
c.10258C= (p.Leu3420=)
c.10012C= (p.Leu3338=)
c.5281C= (p.Leu1761=)
c.3031C= (p.Leu1011=)
c.3994C= (p.Leu1332=)
1g.197088381G>TCA343998527ASPMn.3323C>A
c.10036C>A (p.Leu3346Ile)
c.10258C>A (p.Leu3420Ile)
c.10012C>A (p.Leu3338Ile)
c.5281C>A (p.Leu1761Ile)
c.3031C>A (p.Leu1011Ile)
c.3994C>A (p.Leu1332Ile)
1g.197088382T>ACA422672219ASPMn.3322A>T
c.10035A>T (p.Ile3345=)
c.10257A>T (p.Ile3419=)
c.10011A>T (p.Ile3337=)
c.5280A>T (p.Ile1760=)
c.3030A>T (p.Ile1010=)
c.3993A>T (p.Ile1331=)
1g.197088382T>CCA343998528ASPMn.3322A>G
c.10035A>G (p.Ile3345Met)
c.10257A>G (p.Ile3419Met)
c.10011A>G (p.Ile3337Met)
c.5280A>G (p.Ile1760Met)
c.3030A>G (p.Ile1010Met)
c.3993A>G (p.Ile1331Met)
1g.197088382T>GCA422672220ASPMn.3322A>C
c.10035A>C (p.Ile3345=)
c.10257A>C (p.Ile3419=)
c.10011A>C (p.Ile3337=)
c.5280A>C (p.Ile1760=)
c.3030A>C (p.Ile1010=)
c.3993A>C (p.Ile1331=)
1g.197088383A=CA1217923580ASPMn.3321T=
c.10034T= (p.Ile3345=)
c.10256T= (p.Ile3419=)
c.10010T= (p.Ile3337=)
c.5279T= (p.Ile1760=)
c.3029T= (p.Ile1010=)
c.3992T= (p.Ile1331=)
1g.197088383A>CCA343998529ASPMn.3321T>G
c.10034T>G (p.Ile3345Arg)
c.10256T>G (p.Ile3419Arg)
c.10010T>G (p.Ile3337Arg)
c.5279T>G (p.Ile1760Arg)
c.3029T>G (p.Ile1010Arg)
c.3992T>G (p.Ile1331Arg)
1g.197088383A>GCA343998532ASPMn.3321T>C
c.10034T>C (p.Ile3345Thr)
c.10256T>C (p.Ile3419Thr)
c.10010T>C (p.Ile3337Thr)
c.5279T>C (p.Ile1760Thr)
c.3029T>C (p.Ile1010Thr)
c.3992T>C (p.Ile1331Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088383A>TCA343998535ASPMn.3321T>A
c.10034T>A (p.Ile3345Lys)
c.10256T>A (p.Ile3419Lys)
c.10010T>A (p.Ile3337Lys)
c.5279T>A (p.Ile1760Lys)
c.3029T>A (p.Ile1010Lys)
c.3992T>A (p.Ile1331Lys)
 ClinVar dbSNP gnomAD v4
1g.197088384delCA2573629514ASPMn.3320del
c.10033del (p.Ile3345TyrfsTer?)
c.10255del (p.Ile3419TyrfsTer?)
c.10009del (p.Ile3337TyrfsTer?)
c.5278del (p.Ile1760TyrfsTer?)
c.3028del (p.Ile1010TyrfsTer?)
c.3991del (p.Ile1331TyrfsTer?)
1g.197088384T>ACA343998539ASPMn.3320A>T
c.10033A>T (p.Ile3345Leu)
c.10255A>T (p.Ile3419Leu)
c.10009A>T (p.Ile3337Leu)
c.5278A>T (p.Ile1760Leu)
c.3028A>T (p.Ile1010Leu)
c.3991A>T (p.Ile1331Leu)
1g.197088384T>CCA343998541ASPMn.3320A>G
c.10033A>G (p.Ile3345Val)
c.10255A>G (p.Ile3419Val)
c.10009A>G (p.Ile3337Val)
c.5278A>G (p.Ile1760Val)
c.3028A>G (p.Ile1010Val)
c.3991A>G (p.Ile1331Val)
1g.197088384T>GCA343998549ASPMn.3320A>C
c.10033A>C (p.Ile3345Leu)
c.10255A>C (p.Ile3419Leu)
c.10009A>C (p.Ile3337Leu)
c.5278A>C (p.Ile1760Leu)
c.3028A>C (p.Ile1010Leu)
c.3991A>C (p.Ile1331Leu)
1g.197088385A>CCA343998552ASPMn.3319T>G
c.10032T>G (p.Asp3344Glu)
c.10254T>G (p.Asp3418Glu)
c.10008T>G (p.Asp3336Glu)
c.5277T>G (p.Asp1759Glu)
c.3027T>G (p.Asp1009Glu)
c.3990T>G (p.Asp1330Glu)
1g.197088385A>GCA422672221ASPMn.3319T>C
c.10032T>C (p.Asp3344=)
c.10254T>C (p.Asp3418=)
c.10008T>C (p.Asp3336=)
c.5277T>C (p.Asp1759=)
c.3027T>C (p.Asp1009=)
c.3990T>C (p.Asp1330=)
1g.197088385A>TCA343998553ASPMn.3319T>A
c.10032T>A (p.Asp3344Glu)
c.10254T>A (p.Asp3418Glu)
c.10008T>A (p.Asp3336Glu)
c.5277T>A (p.Asp1759Glu)
c.3027T>A (p.Asp1009Glu)
c.3990T>A (p.Asp1330Glu)
1g.197088386T>ACA343998557ASPMn.3318A>T
c.10031A>T (p.Asp3344Val)
c.10253A>T (p.Asp3418Val)
c.10007A>T (p.Asp3336Val)
c.5276A>T (p.Asp1759Val)
c.3026A>T (p.Asp1009Val)
c.3989A>T (p.Asp1330Val)
1g.197088386T>CCA343998556ASPMn.3318A>G
c.10031A>G (p.Asp3344Gly)
c.10253A>G (p.Asp3418Gly)
c.10007A>G (p.Asp3336Gly)
c.5276A>G (p.Asp1759Gly)
c.3026A>G (p.Asp1009Gly)
c.3989A>G (p.Asp1330Gly)
 gnomAD v4
1g.197088386T>GCA35861095ASPMn.3318A>C
c.10031A>C (p.Asp3344Ala)
c.10253A>C (p.Asp3418Ala)
c.10007A>C (p.Asp3336Ala)
c.5276A>C (p.Asp1759Ala)
c.3026A>C (p.Asp1009Ala)
c.3989A>C (p.Asp1330Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.197088386T=CA1217923583ASPMn.3318A=
c.10031A= (p.Asp3344=)
c.10253A= (p.Asp3418=)
c.10007A= (p.Asp3336=)
c.5276A= (p.Asp1759=)
c.3026A= (p.Asp1009=)
c.3989A= (p.Asp1330=)
1g.197088387C>ACA343998559ASPMn.3317G>T
c.10030G>T (p.Asp3344Tyr)
c.10252G>T (p.Asp3418Tyr)
c.10006G>T (p.Asp3336Tyr)
c.5275G>T (p.Asp1759Tyr)
c.3025G>T (p.Asp1009Tyr)
c.3988G>T (p.Asp1330Tyr)
1g.197088387C>GCA343998560ASPMn.3317G>C
c.10030G>C (p.Asp3344His)
c.10252G>C (p.Asp3418His)
c.10006G>C (p.Asp3336His)
c.5275G>C (p.Asp1759His)
c.3025G>C (p.Asp1009His)
c.3988G>C (p.Asp1330His)
1g.197088387C>TCA343998561ASPMn.3317G>A
c.10030G>A (p.Asp3344Asn)
c.10252G>A (p.Asp3418Asn)
c.10006G>A (p.Asp3336Asn)
c.5275G>A (p.Asp1759Asn)
c.3025G>A (p.Asp1009Asn)
c.3988G>A (p.Asp1330Asn)
1g.197088388T>ACA422672223ASPMn.3316A>T
c.10029A>T (p.Ile3343=)
c.10251A>T (p.Ile3417=)
c.10005A>T (p.Ile3335=)
c.5274A>T (p.Ile1758=)
c.3024A>T (p.Ile1008=)
c.3987A>T (p.Ile1329=)
1g.197088388T>CCA35861098ASPMn.3316A>G
c.10029A>G (p.Ile3343Met)
c.10251A>G (p.Ile3417Met)
c.10005A>G (p.Ile3335Met)
c.5274A>G (p.Ile1758Met)
c.3024A>G (p.Ile1008Met)
c.3987A>G (p.Ile1329Met)
 dbSNP gnomAD v4
1g.197088388T>GCA422672222ASPMn.3316A>C
c.10029A>C (p.Ile3343=)
c.10251A>C (p.Ile3417=)
c.10005A>C (p.Ile3335=)
c.5274A>C (p.Ile1758=)
c.3024A>C (p.Ile1008=)
c.3987A>C (p.Ile1329=)
1g.197088388T=CA1217923585ASPMn.3316A=
c.10029A= (p.Ile3343=)
c.10251A= (p.Ile3417=)
c.10005A= (p.Ile3335=)
c.5274A= (p.Ile1758=)
c.3024A= (p.Ile1008=)
c.3987A= (p.Ile1329=)
1g.197088389A=CA1217923587ASPMn.3315T=
c.10028T= (p.Ile3343=)
c.10250T= (p.Ile3417=)
c.10004T= (p.Ile3335=)
c.5273T= (p.Ile1758=)
c.3023T= (p.Ile1008=)
c.3986T= (p.Ile1329=)
1g.197088389A>CCA343998562ASPMn.3315T>G
c.10028T>G (p.Ile3343Arg)
c.10250T>G (p.Ile3417Arg)
c.10004T>G (p.Ile3335Arg)
c.5273T>G (p.Ile1758Arg)
c.3023T>G (p.Ile1008Arg)
c.3986T>G (p.Ile1329Arg)
1g.197088389A>GCA1308805ASPMn.3315T>C
c.10028T>C (p.Ile3343Thr)
c.10250T>C (p.Ile3417Thr)
c.10004T>C (p.Ile3335Thr)
c.5273T>C (p.Ile1758Thr)
c.3023T>C (p.Ile1008Thr)
c.3986T>C (p.Ile1329Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088389A>TCA343998563ASPMn.3315T>A
c.10028T>A (p.Ile3343Lys)
c.10250T>A (p.Ile3417Lys)
c.10004T>A (p.Ile3335Lys)
c.5273T>A (p.Ile1758Lys)
c.3023T>A (p.Ile1008Lys)
c.3986T>A (p.Ile1329Lys)
1g.197088390T>ACA343998564ASPMn.3314A>T
c.10027A>T (p.Ile3343Leu)
c.10249A>T (p.Ile3417Leu)
c.10003A>T (p.Ile3335Leu)
c.5272A>T (p.Ile1758Leu)
c.3022A>T (p.Ile1008Leu)
c.3985A>T (p.Ile1329Leu)
1g.197088390T>CCA343998565ASPMn.3314A>G
c.10027A>G (p.Ile3343Val)
c.10249A>G (p.Ile3417Val)
c.10003A>G (p.Ile3335Val)
c.5272A>G (p.Ile1758Val)
c.3022A>G (p.Ile1008Val)
c.3985A>G (p.Ile1329Val)
 dbSNP gnomAD v3 gnomAD v4
1g.197088390T>GCA343998568ASPMn.3314A>C
c.10027A>C (p.Ile3343Leu)
c.10249A>C (p.Ile3417Leu)
c.10003A>C (p.Ile3335Leu)
c.5272A>C (p.Ile1758Leu)
c.3022A>C (p.Ile1008Leu)
c.3985A>C (p.Ile1329Leu)
1g.197088390T=CA1217923589ASPMn.3314A=
c.10027A= (p.Ile3343=)
c.10249A= (p.Ile3417=)
c.10003A= (p.Ile3335=)
c.5272A= (p.Ile1758=)
c.3022A= (p.Ile1008=)
c.3985A= (p.Ile1329=)
1g.197088391A>CCA343998570ASPMn.3313T>G
c.10026T>G (p.Cys3342Trp)
c.10248T>G (p.Cys3416Trp)
c.10002T>G (p.Cys3334Trp)
c.5271T>G (p.Cys1757Trp)
c.3021T>G (p.Cys1007Trp)
c.3984T>G (p.Cys1328Trp)
1g.197088391A>GCA422672224ASPMn.3313T>C
c.10026T>C (p.Cys3342=)
c.10248T>C (p.Cys3416=)
c.10002T>C (p.Cys3334=)
c.5271T>C (p.Cys1757=)
c.3021T>C (p.Cys1007=)
c.3984T>C (p.Cys1328=)
1g.197088391A>TCA343998571ASPMn.3313T>A
c.10026T>A (p.Cys3342Ter)
c.10248T>A (p.Cys3416Ter)
c.10002T>A (p.Cys3334Ter)
c.5271T>A (p.Cys1757Ter)
c.3021T>A (p.Cys1007Ter)
c.3984T>A (p.Cys1328Ter)
1g.197088392C>ACA343998577ASPMn.3312G>T
c.10025G>T (p.Cys3342Phe)
c.10247G>T (p.Cys3416Phe)
c.10001G>T (p.Cys3334Phe)
c.5270G>T (p.Cys1757Phe)
c.3020G>T (p.Cys1007Phe)
c.3983G>T (p.Cys1328Phe)
1g.197088392C>GCA343998574ASPMn.3312G>C
c.10025G>C (p.Cys3342Ser)
c.10247G>C (p.Cys3416Ser)
c.10001G>C (p.Cys3334Ser)
c.5270G>C (p.Cys1757Ser)
c.3020G>C (p.Cys1007Ser)
c.3983G>C (p.Cys1328Ser)
1g.197088392C>TCA343998572ASPMn.3312G>A
c.10025G>A (p.Cys3342Tyr)
c.10247G>A (p.Cys3416Tyr)
c.10001G>A (p.Cys3334Tyr)
c.5270G>A (p.Cys1757Tyr)
c.3020G>A (p.Cys1007Tyr)
c.3983G>A (p.Cys1328Tyr)
1g.197088393A>CCA343998580ASPMn.3311T>G
c.10024T>G (p.Cys3342Gly)
c.10246T>G (p.Cys3416Gly)
c.10000T>G (p.Cys3334Gly)
c.5269T>G (p.Cys1757Gly)
c.3019T>G (p.Cys1007Gly)
c.3982T>G (p.Cys1328Gly)
1g.197088393A>GCA343998585ASPMn.3311T>C
c.10024T>C (p.Cys3342Arg)
c.10246T>C (p.Cys3416Arg)
c.10000T>C (p.Cys3334Arg)
c.5269T>C (p.Cys1757Arg)
c.3019T>C (p.Cys1007Arg)
c.3982T>C (p.Cys1328Arg)
1g.197088393A>TCA343998582ASPMn.3311T>A
c.10024T>A (p.Cys3342Ser)
c.10246T>A (p.Cys3416Ser)
c.10000T>A (p.Cys3334Ser)
c.5269T>A (p.Cys1757Ser)
c.3019T>A (p.Cys1007Ser)
c.3982T>A (p.Cys1328Ser)
1g.197088394A>CCA343998587ASPMn.3310T>G
c.10023T>G (p.Asn3341Lys)
c.10245T>G (p.Asn3415Lys)
c.9999T>G (p.Asn3333Lys)
c.5268T>G (p.Asn1756Lys)
c.3018T>G (p.Asn1006Lys)
c.3981T>G (p.Asn1327Lys)
1g.197088394A>GCA422672225ASPMn.3310T>C
c.10023T>C (p.Asn3341=)
c.10245T>C (p.Asn3415=)
c.9999T>C (p.Asn3333=)
c.5268T>C (p.Asn1756=)
c.3018T>C (p.Asn1006=)
c.3981T>C (p.Asn1327=)
 gnomAD v4
1g.197088394A>TCA343998590ASPMn.3310T>A
c.10023T>A (p.Asn3341Lys)
c.10245T>A (p.Asn3415Lys)
c.9999T>A (p.Asn3333Lys)
c.5268T>A (p.Asn1756Lys)
c.3018T>A (p.Asn1006Lys)
c.3981T>A (p.Asn1327Lys)
1g.197088395T>ACA343998591ASPMn.3309A>T
c.10022A>T (p.Asn3341Ile)
c.10244A>T (p.Asn3415Ile)
c.9998A>T (p.Asn3333Ile)
c.5267A>T (p.Asn1756Ile)
c.3017A>T (p.Asn1006Ile)
c.3980A>T (p.Asn1327Ile)
1g.197088395T>CCA343998592ASPMn.3309A>G
c.10022A>G (p.Asn3341Ser)
c.10244A>G (p.Asn3415Ser)
c.9998A>G (p.Asn3333Ser)
c.5267A>G (p.Asn1756Ser)
c.3017A>G (p.Asn1006Ser)
c.3980A>G (p.Asn1327Ser)
1g.197088395T>GCA343998594ASPMn.3309A>C
c.10022A>C (p.Asn3341Thr)
c.10244A>C (p.Asn3415Thr)
c.9998A>C (p.Asn3333Thr)
c.5267A>C (p.Asn1756Thr)
c.3017A>C (p.Asn1006Thr)
c.3980A>C (p.Asn1327Thr)
1g.197088396T>ACA343998596ASPMn.3308A>T
c.10021A>T (p.Asn3341Tyr)
c.10243A>T (p.Asn3415Tyr)
c.9997A>T (p.Asn3333Tyr)
c.5266A>T (p.Asn1756Tyr)
c.3016A>T (p.Asn1006Tyr)
c.3979A>T (p.Asn1327Tyr)
1g.197088396T>CCA343998599ASPMn.3308A>G
c.10021A>G (p.Asn3341Asp)
c.10243A>G (p.Asn3415Asp)
c.9997A>G (p.Asn3333Asp)
c.5266A>G (p.Asn1756Asp)
c.3016A>G (p.Asn1006Asp)
c.3979A>G (p.Asn1327Asp)
 dbSNP
1g.197088396T>GCA343998602ASPMn.3308A>C
c.10021A>C (p.Asn3341His)
c.10243A>C (p.Asn3415His)
c.9997A>C (p.Asn3333His)
c.5266A>C (p.Asn1756His)
c.3016A>C (p.Asn1006His)
c.3979A>C (p.Asn1327His)
1g.197088396T=CA1217923591ASPMn.3308A=
c.10021A= (p.Asn3341=)
c.10243A= (p.Asn3415=)
c.9997A= (p.Asn3333=)
c.5266A= (p.Asn1756=)
c.3016A= (p.Asn1006=)
c.3979A= (p.Asn1327=)
1g.197088397T>ACA343998607ASPMn.3307A>T
c.10020A>T (p.Glu3340Asp)
c.10242A>T (p.Glu3414Asp)
c.9996A>T (p.Glu3332Asp)
c.5265A>T (p.Glu1755Asp)
c.3015A>T (p.Glu1005Asp)
c.3978A>T (p.Glu1326Asp)
1g.197088397T>CCA422672226ASPMn.3307A>G
c.10020A>G (p.Glu3340=)
c.10242A>G (p.Glu3414=)
c.9996A>G (p.Glu3332=)
c.5265A>G (p.Glu1755=)
c.3015A>G (p.Glu1005=)
c.3978A>G (p.Glu1326=)
1g.197088397T>GCA343998608ASPMn.3307A>C
c.10020A>C (p.Glu3340Asp)
c.10242A>C (p.Glu3414Asp)
c.9996A>C (p.Glu3332Asp)
c.5265A>C (p.Glu1755Asp)
c.3015A>C (p.Glu1005Asp)
c.3978A>C (p.Glu1326Asp)
1g.197088398T>ACA343998613ASPMn.3306A>T
c.10019A>T (p.Glu3340Val)
c.10241A>T (p.Glu3414Val)
c.9995A>T (p.Glu3332Val)
c.5264A>T (p.Glu1755Val)
c.3014A>T (p.Glu1005Val)
c.3977A>T (p.Glu1326Val)
1g.197088398T>CCA1308806ASPMn.3306A>G
c.10019A>G (p.Glu3340Gly)
c.10241A>G (p.Glu3414Gly)
c.9995A>G (p.Glu3332Gly)
c.5264A>G (p.Glu1755Gly)
c.3014A>G (p.Glu1005Gly)
c.3977A>G (p.Glu1326Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088398T>GCA343998625ASPMn.3306A>C
c.10019A>C (p.Glu3340Ala)
c.10241A>C (p.Glu3414Ala)
c.9995A>C (p.Glu3332Ala)
c.5264A>C (p.Glu1755Ala)
c.3014A>C (p.Glu1005Ala)
c.3977A>C (p.Glu1326Ala)
1g.197088398T=CA1217923593ASPMn.3306A=
c.10019A= (p.Glu3340=)
c.10241A= (p.Glu3414=)
c.9995A= (p.Glu3332=)
c.5264A= (p.Glu1755=)
c.3014A= (p.Glu1005=)
c.3977A= (p.Glu1326=)
1g.197088399C>ACA343998631ASPMn.3305G>T
c.10018G>T (p.Glu3340Ter)
c.10240G>T (p.Glu3414Ter)
c.9994G>T (p.Glu3332Ter)
c.5263G>T (p.Glu1755Ter)
c.3013G>T (p.Glu1005Ter)
c.3976G>T (p.Glu1326Ter)
1g.197088399C>GCA343998628ASPMn.3305G>C
c.10018G>C (p.Glu3340Gln)
c.10240G>C (p.Glu3414Gln)
c.9994G>C (p.Glu3332Gln)
c.5263G>C (p.Glu1755Gln)
c.3013G>C (p.Glu1005Gln)
c.3976G>C (p.Glu1326Gln)
1g.197088399C>TCA343998626ASPMn.3305G>A
c.10018G>A (p.Glu3340Lys)
c.10240G>A (p.Glu3414Lys)
c.9994G>A (p.Glu3332Lys)
c.5263G>A (p.Glu1755Lys)
c.3013G>A (p.Glu1005Lys)
c.3976G>A (p.Glu1326Lys)
1g.197088400T>ACA422672227ASPMn.3304A>T
c.10017A>T (p.Val3339=)
c.10239A>T (p.Val3413=)
c.9993A>T (p.Val3331=)
c.5262A>T (p.Val1754=)
c.3012A>T (p.Val1004=)
c.3975A>T (p.Val1325=)
1g.197088400T>CCA422672228ASPMn.3304A>G
c.10017A>G (p.Val3339=)
c.10239A>G (p.Val3413=)
c.9993A>G (p.Val3331=)
c.5262A>G (p.Val1754=)
c.3012A>G (p.Val1004=)
c.3975A>G (p.Val1325=)
1g.197088400T>GCA35861108ASPMn.3304A>C
c.10017A>C (p.Val3339=)
c.10239A>C (p.Val3413=)
c.9993A>C (p.Val3331=)
c.5262A>C (p.Val1754=)
c.3012A>C (p.Val1004=)
c.3975A>C (p.Val1325=)
 dbSNP gnomAD v4
1g.197088400T=CA1143567184ASPMn.3304A=
c.10017A= (p.Val3339=)
c.10239A= (p.Val3413=)
c.9993A= (p.Val3331=)
c.5262A= (p.Val1754=)
c.3012A= (p.Val1004=)
c.3975A= (p.Val1325=)
1g.197088401A>CCA343998633ASPMn.3303T>G
c.10016T>G (p.Val3339Gly)
c.10238T>G (p.Val3413Gly)
c.9992T>G (p.Val3331Gly)
c.5261T>G (p.Val1754Gly)
c.3011T>G (p.Val1004Gly)
c.3974T>G (p.Val1325Gly)
1g.197088401A>GCA343998634ASPMn.3303T>C
c.10016T>C (p.Val3339Ala)
c.10238T>C (p.Val3413Ala)
c.9992T>C (p.Val3331Ala)
c.5261T>C (p.Val1754Ala)
c.3011T>C (p.Val1004Ala)
c.3974T>C (p.Val1325Ala)
 gnomAD v4
1g.197088401A>TCA343998636ASPMn.3303T>A
c.10016T>A (p.Val3339Glu)
c.10238T>A (p.Val3413Glu)
c.9992T>A (p.Val3331Glu)
c.5261T>A (p.Val1754Glu)
c.3011T>A (p.Val1004Glu)
c.3974T>A (p.Val1325Glu)
1g.197088402C>ACA343998640ASPMn.3302G>T
c.10015G>T (p.Val3339Leu)
c.10237G>T (p.Val3413Leu)
c.9991G>T (p.Val3331Leu)
c.5260G>T (p.Val1754Leu)
c.3010G>T (p.Val1004Leu)
c.3973G>T (p.Val1325Leu)
1g.197088402C=CA1217923595ASPMn.3302G=
c.10015G= (p.Val3339=)
c.10237G= (p.Val3413=)
c.9991G= (p.Val3331=)
c.5260G= (p.Val1754=)
c.3010G= (p.Val1004=)
c.3973G= (p.Val1325=)
1g.197088402C>GCA343998642ASPMn.3302G>C
c.10015G>C (p.Val3339Leu)
c.10237G>C (p.Val3413Leu)
c.9991G>C (p.Val3331Leu)
c.5260G>C (p.Val1754Leu)
c.3010G>C (p.Val1004Leu)
c.3973G>C (p.Val1325Leu)
1g.197088402C>TCA343998649ASPMn.3302G>A
c.10015G>A (p.Val3339Ile)
c.10237G>A (p.Val3413Ile)
c.9991G>A (p.Val3331Ile)
c.5260G>A (p.Val1754Ile)
c.3010G>A (p.Val1004Ile)
c.3973G>A (p.Val1325Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.197088403A>CCA343998650ASPMn.3301T>G
c.10014T>G (p.Asp3338Glu)
c.10236T>G (p.Asp3412Glu)
c.9990T>G (p.Asp3330Glu)
c.5259T>G (p.Asp1753Glu)
c.3009T>G (p.Asp1003Glu)
c.3972T>G (p.Asp1324Glu)
1g.197088403A>GCA422672229ASPMn.3301T>C
c.10014T>C (p.Asp3338=)
c.10236T>C (p.Asp3412=)
c.9990T>C (p.Asp3330=)
c.5259T>C (p.Asp1753=)
c.3009T>C (p.Asp1003=)
c.3972T>C (p.Asp1324=)
1g.197088403A>TCA343998653ASPMn.3301T>A
c.10014T>A (p.Asp3338Glu)
c.10236T>A (p.Asp3412Glu)
c.9990T>A (p.Asp3330Glu)
c.5259T>A (p.Asp1753Glu)
c.3009T>A (p.Asp1003Glu)
c.3972T>A (p.Asp1324Glu)
1g.197088404delCA2586967835ASPMn.3300del
c.10013del (p.Asp3338ValfsTer2)
c.10235del (p.Asp3412ValfsTer2)
c.9989del (p.Asp3330ValfsTer2)
c.5258del (p.Asp1753ValfsTer2)
c.3008del (p.Asp1003ValfsTer2)
c.3971del (p.Asp1324ValfsTer2)
1g.197088404T>ACA343998655ASPMn.3300A>T
c.10013A>T (p.Asp3338Val)
c.10235A>T (p.Asp3412Val)
c.9989A>T (p.Asp3330Val)
c.5258A>T (p.Asp1753Val)
c.3008A>T (p.Asp1003Val)
c.3971A>T (p.Asp1324Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197088404T>CCA343998656ASPMn.3300A>G
c.10013A>G (p.Asp3338Gly)
c.10235A>G (p.Asp3412Gly)
c.9989A>G (p.Asp3330Gly)
c.5258A>G (p.Asp1753Gly)
c.3008A>G (p.Asp1003Gly)
c.3971A>G (p.Asp1324Gly)
1g.197088404T>GCA343998657ASPMn.3300A>C
c.10013A>C (p.Asp3338Ala)
c.10235A>C (p.Asp3412Ala)
c.9989A>C (p.Asp3330Ala)
c.5258A>C (p.Asp1753Ala)
c.3008A>C (p.Asp1003Ala)
c.3971A>C (p.Asp1324Ala)
1g.197088404T=CA1217923597ASPMn.3300A=
c.10013A= (p.Asp3338=)
c.10235A= (p.Asp3412=)
c.9989A= (p.Asp3330=)
c.5258A= (p.Asp1753=)
c.3008A= (p.Asp1003=)
c.3971A= (p.Asp1324=)
1g.197088405C>ACA343998664ASPMn.3299G>T
c.10012G>T (p.Asp3338Tyr)
c.10234G>T (p.Asp3412Tyr)
c.9988G>T (p.Asp3330Tyr)
c.5257G>T (p.Asp1753Tyr)
c.3007G>T (p.Asp1003Tyr)
c.3970G>T (p.Asp1324Tyr)
1g.197088405C>GCA343998661ASPMn.3299G>C
c.10012G>C (p.Asp3338His)
c.10234G>C (p.Asp3412His)
c.9988G>C (p.Asp3330His)
c.5257G>C (p.Asp1753His)
c.3007G>C (p.Asp1003His)
c.3970G>C (p.Asp1324His)
1g.197088405C>TCA343998659ASPMn.3299G>A
c.10012G>A (p.Asp3338Asn)
c.10234G>A (p.Asp3412Asn)
c.9988G>A (p.Asp3330Asn)
c.5257G>A (p.Asp1753Asn)
c.3007G>A (p.Asp1003Asn)
c.3970G>A (p.Asp1324Asn)
1g.197088406A>CCA343998669ASPMn.3298T>G
c.10011T>G (p.Tyr3337Ter)
c.10233T>G (p.Tyr3411Ter)
c.9987T>G (p.Tyr3329Ter)
c.5256T>G (p.Tyr1752Ter)
c.3006T>G (p.Tyr1002Ter)
c.3969T>G (p.Tyr1323Ter)
1g.197088406A>GCA422672230ASPMn.3298T>C
c.10011T>C (p.Tyr3337=)
c.10233T>C (p.Tyr3411=)
c.9987T>C (p.Tyr3329=)
c.5256T>C (p.Tyr1752=)
c.3006T>C (p.Tyr1002=)
c.3969T>C (p.Tyr1323=)
 COSMIC
1g.197088406A>TCA343998673ASPMn.3298T>A
c.10011T>A (p.Tyr3337Ter)
c.10233T>A (p.Tyr3411Ter)
c.9987T>A (p.Tyr3329Ter)
c.5256T>A (p.Tyr1752Ter)
c.3006T>A (p.Tyr1002Ter)
c.3969T>A (p.Tyr1323Ter)
1g.197088407T>ACA343998676ASPMn.3297A>T
c.10010A>T (p.Tyr3337Phe)
c.10232A>T (p.Tyr3411Phe)
c.9986A>T (p.Tyr3329Phe)
c.5255A>T (p.Tyr1752Phe)
c.3005A>T (p.Tyr1002Phe)
c.3968A>T (p.Tyr1323Phe)
1g.197088407T>CCA343998677ASPMn.3297A>G
c.10010A>G (p.Tyr3337Cys)
c.10232A>G (p.Tyr3411Cys)
c.9986A>G (p.Tyr3329Cys)
c.5255A>G (p.Tyr1752Cys)
c.3005A>G (p.Tyr1002Cys)
c.3968A>G (p.Tyr1323Cys)
1g.197088407T>GCA343998678ASPMn.3297A>C
c.10010A>C (p.Tyr3337Ser)
c.10232A>C (p.Tyr3411Ser)
c.9986A>C (p.Tyr3329Ser)
c.5255A>C (p.Tyr1752Ser)
c.3005A>C (p.Tyr1002Ser)
c.3968A>C (p.Tyr1323Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.197088407T=CA1217923599ASPMn.3297A=
c.10010A= (p.Tyr3337=)
c.10232A= (p.Tyr3411=)
c.9986A= (p.Tyr3329=)
c.5255A= (p.Tyr1752=)
c.3005A= (p.Tyr1002=)
c.3968A= (p.Tyr1323=)
1g.197088408A>CCA343998685ASPMn.3296T>G
c.10009T>G (p.Tyr3337Asp)
c.10231T>G (p.Tyr3411Asp)
c.9985T>G (p.Tyr3329Asp)
c.5254T>G (p.Tyr1752Asp)
c.3004T>G (p.Tyr1002Asp)
c.3967T>G (p.Tyr1323Asp)
 dbSNP
1g.197088408A>GCA343998683ASPMn.3296T>C
c.10009T>C (p.Tyr3337His)
c.10231T>C (p.Tyr3411His)
c.9985T>C (p.Tyr3329His)
c.5254T>C (p.Tyr1752His)
c.3004T>C (p.Tyr1002His)
c.3967T>C (p.Tyr1323His)
 gnomAD v4
1g.197088408A>TCA343998681ASPMn.3296T>A
c.10009T>A (p.Tyr3337Asn)
c.10231T>A (p.Tyr3411Asn)
c.9985T>A (p.Tyr3329Asn)
c.5254T>A (p.Tyr1752Asn)
c.3004T>A (p.Tyr1002Asn)
c.3967T>A (p.Tyr1323Asn)
1g.197088409A>CCA422672231ASPMn.3295T>G
c.10008T>G (p.Val3336=)
c.10230T>G (p.Val3410=)
c.9984T>G (p.Val3328=)
c.5253T>G (p.Val1751=)
c.3003T>G (p.Val1001=)
c.3966T>G (p.Val1322=)
1g.197088409A>GCA422672232ASPMn.3295T>C
c.10008T>C (p.Val3336=)
c.10230T>C (p.Val3410=)
c.9984T>C (p.Val3328=)
c.5253T>C (p.Val1751=)
c.3003T>C (p.Val1001=)
c.3966T>C (p.Val1322=)
1g.197088409A>TCA422672233ASPMn.3295T>A
c.10008T>A (p.Val3336=)
c.10230T>A (p.Val3410=)
c.9984T>A (p.Val3328=)
c.5253T>A (p.Val1751=)
c.3003T>A (p.Val1001=)
c.3966T>A (p.Val1322=)
1g.197088410A>CCA343998687ASPMn.3294T>G
c.10007T>G (p.Val3336Gly)
c.10229T>G (p.Val3410Gly)
c.9983T>G (p.Val3328Gly)
c.5252T>G (p.Val1751Gly)
c.3002T>G (p.Val1001Gly)
c.3965T>G (p.Val1322Gly)
1g.197088410A>GCA343998689ASPMn.3294T>C
c.10007T>C (p.Val3336Ala)
c.10229T>C (p.Val3410Ala)
c.9983T>C (p.Val3328Ala)
c.5252T>C (p.Val1751Ala)
c.3002T>C (p.Val1001Ala)
c.3965T>C (p.Val1322Ala)
1g.197088410A>TCA343998691ASPMn.3294T>A
c.10007T>A (p.Val3336Asp)
c.10229T>A (p.Val3410Asp)
c.9983T>A (p.Val3328Asp)
c.5252T>A (p.Val1751Asp)
c.3002T>A (p.Val1001Asp)
c.3965T>A (p.Val1322Asp)
1g.197088410_197088413delinsACTGCA1217923600ASPMn.3291_3294delinsCAGT
c.10004_10007delinsCAGT (p.Ala3335=)
c.10226_10229delinsCAGT (p.Ala3409=)
c.9980_9983delinsCAGT (p.Ala3327=)
c.5249_5252delinsCAGT (p.Ala1750=)
c.2999_3002delinsCAGT (p.Ala1000=)
c.3962_3965delinsCAGT (p.Ala1321=)
1g.197088411C>ACA343998701ASPMn.3293G>T
c.10006G>T (p.Val3336Phe)
c.10228G>T (p.Val3410Phe)
c.9982G>T (p.Val3328Phe)
c.5251G>T (p.Val1751Phe)
c.3001G>T (p.Val1001Phe)
c.3964G>T (p.Val1322Phe)
1g.197088411C=CA1217923602ASPMn.3293G=
c.10006G= (p.Val3336=)
c.10228G= (p.Val3410=)
c.9982G= (p.Val3328=)
c.5251G= (p.Val1751=)
c.3001G= (p.Val1001=)
c.3964G= (p.Val1322=)
1g.197088411C>GCA343998704ASPMn.3293G>C
c.10006G>C (p.Val3336Leu)
c.10228G>C (p.Val3410Leu)
c.9982G>C (p.Val3328Leu)
c.5251G>C (p.Val1751Leu)
c.3001G>C (p.Val1001Leu)
c.3964G>C (p.Val1322Leu)
1g.197088411C>TCA35861110ASPMn.3293G>A
c.10006G>A (p.Val3336Ile)
c.10228G>A (p.Val3410Ile)
c.9982G>A (p.Val3328Ile)
c.5251G>A (p.Val1751Ile)
c.3001G>A (p.Val1001Ile)
c.3964G>A (p.Val1322Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088414_197088416delCA528535062ASPMn.3291_3293del
c.10004_10006del (p.Ala3335del)
c.10226_10228del (p.Ala3409del)
c.9980_9982del (p.Ala3327del)
c.5249_5251del (p.Ala1750del)
c.2999_3001del (p.Ala1000del)
c.3962_3964del (p.Ala1321del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088412T>ACA422672234ASPMn.3292A>T
c.10005A>T (p.Ala3335=)
c.10227A>T (p.Ala3409=)
c.9981A>T (p.Ala3327=)
c.5250A>T (p.Ala1750=)
c.3000A>T (p.Ala1000=)
c.3963A>T (p.Ala1321=)
1g.197088412T>CCA422672235ASPMn.3292A>G
c.10005A>G (p.Ala3335=)
c.10227A>G (p.Ala3409=)
c.9981A>G (p.Ala3327=)
c.5250A>G (p.Ala1750=)
c.3000A>G (p.Ala1000=)
c.3963A>G (p.Ala1321=)
1g.197088412T>GCA422672236ASPMn.3292A>C
c.10005A>C (p.Ala3335=)
c.10227A>C (p.Ala3409=)
c.9981A>C (p.Ala3327=)
c.5250A>C (p.Ala1750=)
c.3000A>C (p.Ala1000=)
c.3963A>C (p.Ala1321=)
 ClinVar
1g.197088413G>ACA343998705ASPMn.3291C>T
c.10004C>T (p.Ala3335Val)
c.10226C>T (p.Ala3409Val)
c.9980C>T (p.Ala3327Val)
c.5249C>T (p.Ala1750Val)
c.2999C>T (p.Ala1000Val)
c.3962C>T (p.Ala1321Val)
 gnomAD v4
1g.197088413G>CCA343998711ASPMn.3291C>G
c.10004C>G (p.Ala3335Gly)
c.10226C>G (p.Ala3409Gly)
c.9980C>G (p.Ala3327Gly)
c.5249C>G (p.Ala1750Gly)
c.2999C>G (p.Ala1000Gly)
c.3962C>G (p.Ala1321Gly)
1g.197088413G>TCA343998707ASPMn.3291C>A
c.10004C>A (p.Ala3335Glu)
c.10226C>A (p.Ala3409Glu)
c.9980C>A (p.Ala3327Glu)
c.5249C>A (p.Ala1750Glu)
c.2999C>A (p.Ala1000Glu)
c.3962C>A (p.Ala1321Glu)
 gnomAD v4
1g.197088414C>ACA343998716ASPMn.3290G>T
c.10003G>T (p.Ala3335Ser)
c.10225G>T (p.Ala3409Ser)
c.9979G>T (p.Ala3327Ser)
c.5248G>T (p.Ala1750Ser)
c.2998G>T (p.Ala1000Ser)
c.3961G>T (p.Ala1321Ser)
1g.197088414C=CA1217923605ASPMn.3290G=
c.10003G= (p.Ala3335=)
c.10225G= (p.Ala3409=)
c.9979G= (p.Ala3327=)
c.5248G= (p.Ala1750=)
c.2998G= (p.Ala1000=)
c.3961G= (p.Ala1321=)
1g.197088414C>GCA343998719ASPMn.3290G>C
c.10003G>C (p.Ala3335Pro)
c.10225G>C (p.Ala3409Pro)
c.9979G>C (p.Ala3327Pro)
c.5248G>C (p.Ala1750Pro)
c.2998G>C (p.Ala1000Pro)
c.3961G>C (p.Ala1321Pro)
1g.197088414C>TCA343998720ASPMn.3290G>A
c.10003G>A (p.Ala3335Thr)
c.10225G>A (p.Ala3409Thr)
c.9979G>A (p.Ala3327Thr)
c.5248G>A (p.Ala1750Thr)
c.2998G>A (p.Ala1000Thr)
c.3961G>A (p.Ala1321Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088415T>ACA422672239ASPMn.3289A>T
c.10002A>T (p.Ser3334=)
c.10224A>T (p.Ser3408=)
c.9978A>T (p.Ser3326=)
c.5247A>T (p.Ser1749=)
c.2997A>T (p.Ser999=)
c.3960A>T (p.Ser1320=)
1g.197088415T>CCA422672238ASPMn.3289A>G
c.10002A>G (p.Ser3334=)
c.10224A>G (p.Ser3408=)
c.9978A>G (p.Ser3326=)
c.5247A>G (p.Ser1749=)
c.2997A>G (p.Ser999=)
c.3960A>G (p.Ser1320=)
1g.197088415T>GCA422672237ASPMn.3289A>C
c.10002A>C (p.Ser3334=)
c.10224A>C (p.Ser3408=)
c.9978A>C (p.Ser3326=)
c.5247A>C (p.Ser1749=)
c.2997A>C (p.Ser999=)
c.3960A>C (p.Ser1320=)
1g.197088416G>ACA343998724ASPMn.3288C>T
c.10001C>T (p.Ser3334Leu)
c.10223C>T (p.Ser3408Leu)
c.9977C>T (p.Ser3326Leu)
c.5246C>T (p.Ser1749Leu)
c.2996C>T (p.Ser999Leu)
c.3959C>T (p.Ser1320Leu)
1g.197088416G>CCA343998726ASPMn.3288C>G
c.10001C>G (p.Ser3334Ter)
c.10223C>G (p.Ser3408Ter)
c.9977C>G (p.Ser3326Ter)
c.5246C>G (p.Ser1749Ter)
c.2996C>G (p.Ser999Ter)
c.3959C>G (p.Ser1320Ter)
1g.197088416G>TCA343998727ASPMn.3288C>A
c.10001C>A (p.Ser3334Ter)
c.10223C>A (p.Ser3408Ter)
c.9977C>A (p.Ser3326Ter)
c.5246C>A (p.Ser1749Ter)
c.2996C>A (p.Ser999Ter)
c.3959C>A (p.Ser1320Ter)
 gnomAD v4
1g.197088417A=CA1217923607ASPMn.3287T=
c.10000T= (p.Ser3334=)
c.10222T= (p.Ser3408=)
c.9976T= (p.Ser3326=)
c.5245T= (p.Ser1749=)
c.2995T= (p.Ser999=)
c.3958T= (p.Ser1320=)
1g.197088417A>CCA343998730ASPMn.3287T>G
c.10000T>G (p.Ser3334Ala)
c.10222T>G (p.Ser3408Ala)
c.9976T>G (p.Ser3326Ala)
c.5245T>G (p.Ser1749Ala)
c.2995T>G (p.Ser999Ala)
c.3958T>G (p.Ser1320Ala)
1g.197088417A>GCA343998731ASPMn.3287T>C
c.10000T>C (p.Ser3334Pro)
c.10222T>C (p.Ser3408Pro)
c.9976T>C (p.Ser3326Pro)
c.5245T>C (p.Ser1749Pro)
c.2995T>C (p.Ser999Pro)
c.3958T>C (p.Ser1320Pro)
1g.197088417A>TCA1308807ASPMn.3287T>A
c.10000T>A (p.Ser3334Thr)
c.10222T>A (p.Ser3408Thr)
c.9976T>A (p.Ser3326Thr)
c.5245T>A (p.Ser1749Thr)
c.2995T>A (p.Ser999Thr)
c.3958T>A (p.Ser1320Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088418A=CA1217923609ASPMn.3286T=
c.9999T= (p.Thr3333=)
c.10221T= (p.Thr3407=)
c.9975T= (p.Thr3325=)
c.5244T= (p.Thr1748=)
c.2994T= (p.Thr998=)
c.3957T= (p.Thr1319=)
1g.197088418A>CCA422672240ASPMn.3286T>G
c.9999T>G (p.Thr3333=)
c.10221T>G (p.Thr3407=)
c.9975T>G (p.Thr3325=)
c.5244T>G (p.Thr1748=)
c.2994T>G (p.Thr998=)
c.3957T>G (p.Thr1319=)
1g.197088418A>GCA422672241ASPMn.3286T>C
c.9999T>C (p.Thr3333=)
c.10221T>C (p.Thr3407=)
c.9975T>C (p.Thr3325=)
c.5244T>C (p.Thr1748=)
c.2994T>C (p.Thr998=)
c.3957T>C (p.Thr1319=)
1g.197088418A>TCA1308808ASPMn.3286T>A
c.9999T>A (p.Thr3333=)
c.10221T>A (p.Thr3407=)
c.9975T>A (p.Thr3325=)
c.5244T>A (p.Thr1748=)
c.2994T>A (p.Thr998=)
c.3957T>A (p.Thr1319=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088419G>ACA343998742ASPMn.3285C>T
c.9998C>T (p.Thr3333Ile)
c.10220C>T (p.Thr3407Ile)
c.9974C>T (p.Thr3325Ile)
c.5243C>T (p.Thr1748Ile)
c.2993C>T (p.Thr998Ile)
c.3956C>T (p.Thr1319Ile)
 gnomAD v4
1g.197088419G>CCA343998739ASPMn.3285C>G
c.9998C>G (p.Thr3333Ser)
c.10220C>G (p.Thr3407Ser)
c.9974C>G (p.Thr3325Ser)
c.5243C>G (p.Thr1748Ser)
c.2993C>G (p.Thr998Ser)
c.3956C>G (p.Thr1319Ser)
1g.197088419G>TCA343998737ASPMn.3285C>A
c.9998C>A (p.Thr3333Asn)
c.10220C>A (p.Thr3407Asn)
c.9974C>A (p.Thr3325Asn)
c.5243C>A (p.Thr1748Asn)
c.2993C>A (p.Thr998Asn)
c.3956C>A (p.Thr1319Asn)
 gnomAD v4
1g.197088420T>ACA343998748ASPMn.3284A>T
c.9997A>T (p.Thr3333Ser)
c.10219A>T (p.Thr3407Ser)
c.9973A>T (p.Thr3325Ser)
c.5242A>T (p.Thr1748Ser)
c.2992A>T (p.Thr998Ser)
c.3955A>T (p.Thr1319Ser)
 dbSNP gnomAD v4
1g.197088420T>CCA343998751ASPMn.3284A>G
c.9997A>G (p.Thr3333Ala)
c.10219A>G (p.Thr3407Ala)
c.9973A>G (p.Thr3325Ala)
c.5242A>G (p.Thr1748Ala)
c.2992A>G (p.Thr998Ala)
c.3955A>G (p.Thr1319Ala)
 gnomAD v4
1g.197088420T>GCA343998750ASPMn.3284A>C
c.9997A>C (p.Thr3333Pro)
c.10219A>C (p.Thr3407Pro)
c.9973A>C (p.Thr3325Pro)
c.5242A>C (p.Thr1748Pro)
c.2992A>C (p.Thr998Pro)
c.3955A>C (p.Thr1319Pro)
1g.197088420T=CA1217923611ASPMn.3284A=
c.9997A= (p.Thr3333=)
c.10219A= (p.Thr3407=)
c.9973A= (p.Thr3325=)
c.5242A= (p.Thr1748=)
c.2992A= (p.Thr998=)
c.3955A= (p.Thr1319=)
1g.197088421A=CA1141711141ASPMn.3283T=
c.9996T= (p.Thr3332=)
c.10218T= (p.Thr3406=)
c.9972T= (p.Thr3324=)
c.5241T= (p.Thr1747=)
c.2991T= (p.Thr997=)
c.3954T= (p.Thr1318=)
1g.197088421A>CCA422672242ASPMn.3283T>G
c.9996T>G (p.Thr3332=)
c.10218T>G (p.Thr3406=)
c.9972T>G (p.Thr3324=)
c.5241T>G (p.Thr1747=)
c.2991T>G (p.Thr997=)
c.3954T>G (p.Thr1318=)
1g.197088421A>GCA202063ASPMn.3283T>C
c.9996T>C (p.Thr3332=)
c.10218T>C (p.Thr3406=)
c.9972T>C (p.Thr3324=)
c.5241T>C (p.Thr1747=)
c.2991T>C (p.Thr997=)
c.3954T>C (p.Thr1318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197088421A>TCA422672243ASPMn.3283T>A
c.9996T>A (p.Thr3332=)
c.10218T>A (p.Thr3406=)
c.9972T>A (p.Thr3324=)
c.5241T>A (p.Thr1747=)
c.2991T>A (p.Thr997=)
c.3954T>A (p.Thr1318=)
1g.197088422G>ACA343998755ASPMn.3282C>T
c.9995C>T (p.Thr3332Ile)
c.10217C>T (p.Thr3406Ile)
c.9971C>T (p.Thr3324Ile)
c.5240C>T (p.Thr1747Ile)
c.2990C>T (p.Thr997Ile)
c.3953C>T (p.Thr1318Ile)
1g.197088422G>CCA343998759ASPMn.3282C>G
c.9995C>G (p.Thr3332Ser)
c.10217C>G (p.Thr3406Ser)
c.9971C>G (p.Thr3324Ser)
c.5240C>G (p.Thr1747Ser)
c.2990C>G (p.Thr997Ser)
c.3953C>G (p.Thr1318Ser)
1g.197088422G>TCA343998761ASPMn.3282C>A
c.9995C>A (p.Thr3332Asn)
c.10217C>A (p.Thr3406Asn)
c.9971C>A (p.Thr3324Asn)
c.5240C>A (p.Thr1747Asn)
c.2990C>A (p.Thr997Asn)
c.3953C>A (p.Thr1318Asn)
1g.197088423T>ACA343998765ASPMn.3281A>T
c.9994A>T (p.Thr3332Ser)
c.10216A>T (p.Thr3406Ser)
c.9970A>T (p.Thr3324Ser)
c.5239A>T (p.Thr1747Ser)
c.2989A>T (p.Thr997Ser)
c.3952A>T (p.Thr1318Ser)
1g.197088423T>CCA343998767ASPMn.3281A>G
c.9994A>G (p.Thr3332Ala)
c.10216A>G (p.Thr3406Ala)
c.9970A>G (p.Thr3324Ala)
c.5239A>G (p.Thr1747Ala)
c.2989A>G (p.Thr997Ala)
c.3952A>G (p.Thr1318Ala)
1g.197088423T>GCA343998769ASPMn.3281A>C
c.9994A>C (p.Thr3332Pro)
c.10216A>C (p.Thr3406Pro)
c.9970A>C (p.Thr3324Pro)
c.5239A>C (p.Thr1747Pro)
c.2989A>C (p.Thr997Pro)
c.3952A>C (p.Thr1318Pro)
 gnomAD v4
1g.197088424T>ACA343998774ASPMn.3280A>T
c.9993A>T (p.Lys3331Asn)
c.10215A>T (p.Lys3405Asn)
c.9969A>T (p.Lys3323Asn)
c.5238A>T (p.Lys1746Asn)
c.2988A>T (p.Lys996Asn)
c.3951A>T (p.Lys1317Asn)
1g.197088424T>CCA422672244ASPMn.3280A>G
c.9993A>G (p.Lys3331=)
c.10215A>G (p.Lys3405=)
c.9969A>G (p.Lys3323=)
c.5238A>G (p.Lys1746=)
c.2988A>G (p.Lys996=)
c.3951A>G (p.Lys1317=)
 gnomAD v4
1g.197088424T>GCA343998776ASPMn.3280A>C
c.9993A>C (p.Lys3331Asn)
c.10215A>C (p.Lys3405Asn)
c.9969A>C (p.Lys3323Asn)
c.5238A>C (p.Lys1746Asn)
c.2988A>C (p.Lys996Asn)
c.3951A>C (p.Lys1317Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.197088424T=CA1217923615ASPMn.3280A=
c.9993A= (p.Lys3331=)
c.10215A= (p.Lys3405=)
c.9969A= (p.Lys3323=)
c.5238A= (p.Lys1746=)
c.2988A= (p.Lys996=)
c.3951A= (p.Lys1317=)
1g.197088425T>ACA343998784ASPMn.3279A>T
c.9992A>T (p.Lys3331Ile)
c.10214A>T (p.Lys3405Ile)
c.9968A>T (p.Lys3323Ile)
c.5237A>T (p.Lys1746Ile)
c.2987A>T (p.Lys996Ile)
c.3950A>T (p.Lys1317Ile)
1g.197088425T>CCA343998788ASPMn.3279A>G
c.9992A>G (p.Lys3331Arg)
c.10214A>G (p.Lys3405Arg)
c.9968A>G (p.Lys3323Arg)
c.5237A>G (p.Lys1746Arg)
c.2987A>G (p.Lys996Arg)
c.3950A>G (p.Lys1317Arg)
1g.197088425T>GCA343998792ASPMn.3279A>C
c.9992A>C (p.Lys3331Thr)
c.10214A>C (p.Lys3405Thr)
c.9968A>C (p.Lys3323Thr)
c.5237A>C (p.Lys1746Thr)
c.2987A>C (p.Lys996Thr)
c.3950A>C (p.Lys1317Thr)
 gnomAD v4
1g.197088426T>ACA343998797ASPMn.3278A>T
c.9991A>T (p.Lys3331Ter)
c.10213A>T (p.Lys3405Ter)
c.9967A>T (p.Lys3323Ter)
c.5236A>T (p.Lys1746Ter)
c.2986A>T (p.Lys996Ter)
c.3949A>T (p.Lys1317Ter)
1g.197088426T>CCA343998802ASPMn.3278A>G
c.9991A>G (p.Lys3331Glu)
c.10213A>G (p.Lys3405Glu)
c.9967A>G (p.Lys3323Glu)
c.5236A>G (p.Lys1746Glu)
c.2986A>G (p.Lys996Glu)
c.3949A>G (p.Lys1317Glu)
1g.197088426T>GCA343998799ASPMn.3278A>C
c.9991A>C (p.Lys3331Gln)
c.10213A>C (p.Lys3405Gln)
c.9967A>C (p.Lys3323Gln)
c.5236A>C (p.Lys1746Gln)
c.2986A>C (p.Lys996Gln)
c.3949A>C (p.Lys1317Gln)
1g.197088427C>ACA343998805ASPMn.3277G>T
c.9990G>T (p.Glu3330Asp)
c.10212G>T (p.Glu3404Asp)
c.9966G>T (p.Glu3322Asp)
c.5235G>T (p.Glu1745Asp)
c.2985G>T (p.Glu995Asp)
c.3948G>T (p.Glu1316Asp)
1g.197088427C>GCA343998811ASPMn.3277G>C
c.9990G>C (p.Glu3330Asp)
c.10212G>C (p.Glu3404Asp)
c.9966G>C (p.Glu3322Asp)
c.5235G>C (p.Glu1745Asp)
c.2985G>C (p.Glu995Asp)
c.3948G>C (p.Glu1316Asp)
1g.197088427C>TCA422672245ASPMn.3277G>A
c.9990G>A (p.Glu3330=)
c.10212G>A (p.Glu3404=)
c.9966G>A (p.Glu3322=)
c.5235G>A (p.Glu1745=)
c.2985G>A (p.Glu995=)
c.3948G>A (p.Glu1316=)
1g.197088428T>ACA343998815ASPMn.3276A>T
c.9989A>T (p.Glu3330Val)
c.10211A>T (p.Glu3404Val)
c.9965A>T (p.Glu3322Val)
c.5234A>T (p.Glu1745Val)
c.2984A>T (p.Glu995Val)
c.3947A>T (p.Glu1316Val)
1g.197088428T>CCA343998820ASPMn.3276A>G
c.9989A>G (p.Glu3330Gly)
c.10211A>G (p.Glu3404Gly)
c.9965A>G (p.Glu3322Gly)
c.5234A>G (p.Glu1745Gly)
c.2984A>G (p.Glu995Gly)
c.3947A>G (p.Glu1316Gly)
1g.197088428T>GCA343998824ASPMn.3276A>C
c.9989A>C (p.Glu3330Ala)
c.10211A>C (p.Glu3404Ala)
c.9965A>C (p.Glu3322Ala)
c.5234A>C (p.Glu1745Ala)
c.2984A>C (p.Glu995Ala)
c.3947A>C (p.Glu1316Ala)
1g.197088429C>ACA343998826ASPMn.3275G>T
c.9988G>T (p.Glu3330Ter)
c.10210G>T (p.Glu3404Ter)
c.9964G>T (p.Glu3322Ter)
c.5233G>T (p.Glu1745Ter)
c.2983G>T (p.Glu995Ter)
c.3946G>T (p.Glu1316Ter)
1g.197088429C>GCA343998827ASPMn.3275G>C
c.9988G>C (p.Glu3330Gln)
c.10210G>C (p.Glu3404Gln)
c.9964G>C (p.Glu3322Gln)
c.5233G>C (p.Glu1745Gln)
c.2983G>C (p.Glu995Gln)
c.3946G>C (p.Glu1316Gln)
1g.197088429C>TCA343998828ASPMn.3275G>A
c.9988G>A (p.Glu3330Lys)
c.10210G>A (p.Glu3404Lys)
c.9964G>A (p.Glu3322Lys)
c.5233G>A (p.Glu1745Lys)
c.2983G>A (p.Glu995Lys)
c.3946G>A (p.Glu1316Lys)
 gnomAD v4
1g.197088430A=CA1217923616ASPMn.3274T=
c.9987T= (p.Tyr3329=)
c.10209T= (p.Tyr3403=)
c.9963T= (p.Tyr3321=)
c.5232T= (p.Tyr1744=)
c.2982T= (p.Tyr994=)
c.3945T= (p.Tyr1315=)
1g.197088430A>CCA343998829ASPMn.3274T>G
c.9987T>G (p.Tyr3329Ter)
c.10209T>G (p.Tyr3403Ter)
c.9963T>G (p.Tyr3321Ter)
c.5232T>G (p.Tyr1744Ter)
c.2982T>G (p.Tyr994Ter)
c.3945T>G (p.Tyr1315Ter)
1g.197088430A>GCA422672246ASPMn.3274T>C
c.9987T>C (p.Tyr3329=)
c.10209T>C (p.Tyr3403=)
c.9963T>C (p.Tyr3321=)
c.5232T>C (p.Tyr1744=)
c.2982T>C (p.Tyr994=)
c.3945T>C (p.Tyr1315=)
 dbSNP gnomAD v2 gnomAD v4
1g.197088430A>TCA343998831ASPMn.3274T>A
c.9987T>A (p.Tyr3329Ter)
c.10209T>A (p.Tyr3403Ter)
c.9963T>A (p.Tyr3321Ter)
c.5232T>A (p.Tyr1744Ter)
c.2982T>A (p.Tyr994Ter)
c.3945T>A (p.Tyr1315Ter)
1g.197088431T>ACA343998843ASPMn.3273A>T
c.9986A>T (p.Tyr3329Phe)
c.10208A>T (p.Tyr3403Phe)
c.9962A>T (p.Tyr3321Phe)
c.5231A>T (p.Tyr1744Phe)
c.2981A>T (p.Tyr994Phe)
c.3944A>T (p.Tyr1315Phe)
1g.197088431T>CCA343998846ASPMn.3273A>G
c.9986A>G (p.Tyr3329Cys)
c.10208A>G (p.Tyr3403Cys)
c.9962A>G (p.Tyr3321Cys)
c.5231A>G (p.Tyr1744Cys)
c.2981A>G (p.Tyr994Cys)
c.3944A>G (p.Tyr1315Cys)
 gnomAD v4
1g.197088431T>GCA343998841ASPMn.3273A>C
c.9986A>C (p.Tyr3329Ser)
c.10208A>C (p.Tyr3403Ser)
c.9962A>C (p.Tyr3321Ser)
c.5231A>C (p.Tyr1744Ser)
c.2981A>C (p.Tyr994Ser)
c.3944A>C (p.Tyr1315Ser)
1g.197088432A>CCA343998850ASPMn.3272T>G
c.9985T>G (p.Tyr3329Asp)
c.10207T>G (p.Tyr3403Asp)
c.9961T>G (p.Tyr3321Asp)
c.5230T>G (p.Tyr1744Asp)
c.2980T>G (p.Tyr994Asp)
c.3943T>G (p.Tyr1315Asp)
1g.197088432A>GCA343998853ASPMn.3272T>C
c.9985T>C (p.Tyr3329His)
c.10207T>C (p.Tyr3403His)
c.9961T>C (p.Tyr3321His)
c.5230T>C (p.Tyr1744His)
c.2980T>C (p.Tyr994His)
c.3943T>C (p.Tyr1315His)
 gnomAD v4
1g.197088432A>TCA343998856ASPMn.3272T>A
c.9985T>A (p.Tyr3329Asn)
c.10207T>A (p.Tyr3403Asn)
c.9961T>A (p.Tyr3321Asn)
c.5230T>A (p.Tyr1744Asn)
c.2980T>A (p.Tyr994Asn)
c.3943T>A (p.Tyr1315Asn)
1g.197088433C>ACA343998859ASPMn.3272-1G>T
c.9985-1G>T (n.9985-1G>T)
c.10207-1G>T (n.10207-1G>T)
c.9961-1G>T (n.9961-1G>T)
c.5230-1G>T (n.5230-1G>T)
c.2980-1G>T (n.2980-1G>T)
c.3943-1G>T (n.3943-1G>T)
1g.197088433C=CA1217923617ASPMn.3272-1G=
c.9985-1G= (n.9985-1G=)
c.10207-1G= (n.10207-1G=)
c.9961-1G= (n.9961-1G=)
c.5230-1G= (n.5230-1G=)
c.2980-1G= (n.2980-1G=)
c.3943-1G= (n.3943-1G=)
1g.197088433C>GCA343998862ASPMn.3272-1G>C
c.9985-1G>C (n.9985-1G>C)
c.10207-1G>C (n.10207-1G>C)
c.9961-1G>C (n.9961-1G>C)
c.5230-1G>C (n.5230-1G>C)
c.2980-1G>C (n.2980-1G>C)
c.3943-1G>C (n.3943-1G>C)
1g.197088433C>TCA343998872ASPMn.3272-1G>A
c.9985-1G>A (n.9985-1G>A)
c.10207-1G>A (n.10207-1G>A)
c.9961-1G>A (n.9961-1G>A)
c.5230-1G>A (n.5230-1G>A)
c.2980-1G>A (n.2980-1G>A)
c.3943-1G>A (n.3943-1G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.197088434T>ACA343998877ASPMn.3272-2A>T
c.9985-2A>T (n.9985-2A>T)
c.10207-2A>T (n.10207-2A>T)
c.9961-2A>T (n.9961-2A>T)
c.5230-2A>T (n.5230-2A>T)
c.2980-2A>T (n.2980-2A>T)
c.3943-2A>T (n.3943-2A>T)
1g.197088434T>CCA343998879ASPMn.3272-2A>G
c.9985-2A>G (n.9985-2A>G)
c.10207-2A>G (n.10207-2A>G)
c.9961-2A>G (n.9961-2A>G)
c.5230-2A>G (n.5230-2A>G)
c.2980-2A>G (n.2980-2A>G)
c.3943-2A>G (n.3943-2A>G)
1g.197088434T>GCA343998881ASPMn.3272-2A>C
c.9985-2A>C (n.9985-2A>C)
c.10207-2A>C (n.10207-2A>C)
c.9961-2A>C (n.9961-2A>C)
c.5230-2A>C (n.5230-2A>C)
c.2980-2A>C (n.2980-2A>C)
c.3943-2A>C (n.3943-2A>C)
1g.197088436G>TCA2649660434ASPMn.3272-4C>A
c.9985-4C>A (n.9985-4C>A)
c.10207-4C>A (n.10207-4C>A)
c.9961-4C>A (n.9961-4C>A)
c.5230-4C>A (n.5230-4C>A)
c.2980-4C>A (n.2980-4C>A)
c.3943-4C>A (n.3943-4C>A)
 gnomAD v4
1g.197088439_197088443delCA2649660435ASPMn.3272-8_3272-4del
c.9985-8_9985-4del (n.9985-8_9985-4del)
c.10207-8_10207-4del (n.10207-8_10207-4del)
c.9961-8_9961-4del (n.9961-8_9961-4del)
c.5230-8_5230-4del (n.5230-8_5230-4del)
c.2980-8_2980-4del (n.2980-8_2980-4del)
c.3943-8_3943-4del (n.3943-8_3943-4del)
 gnomAD v4
1g.197088438A=CA1217923618ASPMn.3272-6T=
c.9985-6T= (n.9985-6T=)
c.10207-6T= (n.10207-6T=)
c.9961-6T= (n.9961-6T=)
c.5230-6T= (n.5230-6T=)
c.2980-6T= (n.2980-6T=)
c.3943-6T= (n.3943-6T=)
1g.197088439G>ACA2573977452ASPMn.3272-7C>T
c.9985-7C>T (n.9985-7C>T)
c.10207-7C>T (n.10207-7C>T)
c.9961-7C>T (n.9961-7C>T)
c.5230-7C>T (n.5230-7C>T)
c.2980-7C>T (n.2980-7C>T)
c.3943-7C>T (n.3943-7C>T)
 gnomAD v4
1g.197088439G>CCA2649660436ASPMn.3272-7C>G
c.9985-7C>G (n.9985-7C>G)
c.10207-7C>G (n.10207-7C>G)
c.9961-7C>G (n.9961-7C>G)
c.5230-7C>G (n.5230-7C>G)
c.2980-7C>G (n.2980-7C>G)
c.3943-7C>G (n.3943-7C>G)
 gnomAD v4
1g.197088439G>TCA2649660437ASPMn.3272-7C>A
c.9985-7C>A (n.9985-7C>A)
c.10207-7C>A (n.10207-7C>A)
c.9961-7C>A (n.9961-7C>A)
c.5230-7C>A (n.5230-7C>A)
c.2980-7C>A (n.2980-7C>A)
c.3943-7C>A (n.3943-7C>A)
 gnomAD v4
1g.197088440_197088441insAACTACTTCATACTGACA528535063ASPMn.3272-7_3272-6insAGTATGAAGTAGTTTC
c.9985-7_9985-6insAGTATGAAGTAGTTTC (n.9985-7_9985-6insAGTATGAAGTAGTTTC)
c.10207-7_10207-6insAGTATGAAGTAGTTTC (n.10207-7_10207-6insAGTATGAAGTAGTTTC)
c.9961-7_9961-6insAGTATGAAGTAGTTTC (n.9961-7_9961-6insAGTATGAAGTAGTTTC)
c.5230-7_5230-6insAGTATGAAGTAGTTTC (n.5230-7_5230-6insAGTATGAAGTAGTTTC)
c.2980-7_2980-6insAGTATGAAGTAGTTTC (n.2980-7_2980-6insAGTATGAAGTAGTTTC)
c.3943-7_3943-6insAGTATGAAGTAGTTTC (n.3943-7_3943-6insAGTATGAAGTAGTTTC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197088440A>CCA2649660438ASPMn.3272-8T>G
c.9985-8T>G (n.9985-8T>G)
c.10207-8T>G (n.10207-8T>G)
c.9961-8T>G (n.9961-8T>G)
c.5230-8T>G (n.5230-8T>G)
c.2980-8T>G (n.2980-8T>G)
c.3943-8T>G (n.3943-8T>G)
 gnomAD v4
1g.197088441G>ACA2649660439ASPMn.3272-9C>T
c.9985-9C>T (n.9985-9C>T)
c.10207-9C>T (n.10207-9C>T)
c.9961-9C>T (n.9961-9C>T)
c.5230-9C>T (n.5230-9C>T)
c.2980-9C>T (n.2980-9C>T)
c.3943-9C>T (n.3943-9C>T)
 gnomAD v4
1g.197088441G>CCA915941950ASPMn.3272-9C>G
c.9985-9C>G (n.9985-9C>G)
c.10207-9C>G (n.10207-9C>G)
c.9961-9C>G (n.9961-9C>G)
c.5230-9C>G (n.5230-9C>G)
c.2980-9C>G (n.2980-9C>G)
c.3943-9C>G (n.3943-9C>G)
 ClinVar dbSNP
1g.197088441G=CA1217923619ASPMn.3272-9C=
c.9985-9C= (n.9985-9C=)
c.10207-9C= (n.10207-9C=)
c.9961-9C= (n.9961-9C=)
c.5230-9C= (n.5230-9C=)
c.2980-9C= (n.2980-9C=)
c.3943-9C= (n.3943-9C=)
1g.197088441G>TCA2649660440ASPMn.3272-9C>A
c.9985-9C>A (n.9985-9C>A)
c.10207-9C>A (n.10207-9C>A)
c.9961-9C>A (n.9961-9C>A)
c.5230-9C>A (n.5230-9C>A)
c.2980-9C>A (n.2980-9C>A)
c.3943-9C>A (n.3943-9C>A)
 gnomAD v4
1g.197088443A=CA1217923621ASPMn.3272-11T=
c.9985-11T= (n.9985-11T=)
c.10207-11T= (n.10207-11T=)
c.9961-11T= (n.9961-11T=)
c.5230-11T= (n.5230-11T=)
c.2980-11T= (n.2980-11T=)
c.3943-11T= (n.3943-11T=)
1g.197088443A>GCA528535064ASPMn.3272-11T>C
c.9985-11T>C (n.9985-11T>C)
c.10207-11T>C (n.10207-11T>C)
c.9961-11T>C (n.9961-11T>C)
c.5230-11T>C (n.5230-11T>C)
c.2980-11T>C (n.2980-11T>C)
c.3943-11T>C (n.3943-11T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.197088444C=CA1217923622ASPMn.3272-12G=
c.9985-12G= (n.9985-12G=)
c.10207-12G= (n.10207-12G=)
c.9961-12G= (n.9961-12G=)
c.5230-12G= (n.5230-12G=)
c.2980-12G= (n.2980-12G=)
c.3943-12G= (n.3943-12G=)
1g.197088444C>GCA729743986ASPMn.3272-12G>C
c.9985-12G>C (n.9985-12G>C)
c.10207-12G>C (n.10207-12G>C)
c.9961-12G>C (n.9961-12G>C)
c.5230-12G>C (n.5230-12G>C)
c.2980-12G>C (n.2980-12G>C)
c.3943-12G>C (n.3943-12G>C)
 dbSNP gnomAD v4
1g.197088444C>TCA2649660441ASPMn.3272-12G>A
c.9985-12G>A (n.9985-12G>A)
c.10207-12G>A (n.10207-12G>A)
c.9961-12G>A (n.9961-12G>A)
c.5230-12G>A (n.5230-12G>A)
c.2980-12G>A (n.2980-12G>A)
c.3943-12G>A (n.3943-12G>A)
 gnomAD v4
1g.197088446G>TCA2649660442ASPMn.3272-14C>A
c.9985-14C>A (n.9985-14C>A)
c.10207-14C>A (n.10207-14C>A)
c.9961-14C>A (n.9961-14C>A)
c.5230-14C>A (n.5230-14C>A)
c.2980-14C>A (n.2980-14C>A)
c.3943-14C>A (n.3943-14C>A)
 gnomAD v4
1g.197088448delCA2649660443ASPMn.3272-15del
c.9985-15del (n.9985-15del)
c.10207-15del (n.10207-15del)
c.9961-15del (n.9961-15del)
c.5230-15del (n.5230-15del)
c.2980-15del (n.2980-15del)
c.3943-15del (n.3943-15del)
 gnomAD v4
1g.197088450G>ACA1010897535ASPMn.3272-18C>T
c.9985-18C>T (n.9985-18C>T)
c.10207-18C>T (n.10207-18C>T)
c.9961-18C>T (n.9961-18C>T)
c.5230-18C>T (n.5230-18C>T)
c.2980-18C>T (n.2980-18C>T)
c.3943-18C>T (n.3943-18C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.197088450G=CA1217923623ASPMn.3272-18C=
c.9985-18C= (n.9985-18C=)
c.10207-18C= (n.10207-18C=)
c.9961-18C= (n.9961-18C=)
c.5230-18C= (n.5230-18C=)
c.2980-18C= (n.2980-18C=)
c.3943-18C= (n.3943-18C=)
1g.197088450G>TCA2573977455ASPMn.3272-18C>A
c.9985-18C>A (n.9985-18C>A)
c.10207-18C>A (n.10207-18C>A)
c.9961-18C>A (n.9961-18C>A)
c.5230-18C>A (n.5230-18C>A)
c.2980-18C>A (n.2980-18C>A)
c.3943-18C>A (n.3943-18C>A)
1g.197088452A>GCA2649660444ASPMn.3272-20T>C
c.9985-20T>C (n.9985-20T>C)
c.10207-20T>C (n.10207-20T>C)
c.9961-20T>C (n.9961-20T>C)
c.5230-20T>C (n.5230-20T>C)
c.2980-20T>C (n.2980-20T>C)
c.3943-20T>C (n.3943-20T>C)
 gnomAD v4
1g.197088454T>ACA528535065ASPMn.3272-22A>T
c.9985-22A>T (n.9985-22A>T)
c.10207-22A>T (n.10207-22A>T)
c.9961-22A>T (n.9961-22A>T)
c.5230-22A>T (n.5230-22A>T)
c.2980-22A>T (n.2980-22A>T)
c.3943-22A>T (n.3943-22A>T)
 dbSNP gnomAD v2
1g.197088454T=CA1217923624ASPMn.3272-22A=
c.9985-22A= (n.9985-22A=)
c.10207-22A= (n.10207-22A=)
c.9961-22A= (n.9961-22A=)
c.5230-22A= (n.5230-22A=)
c.2980-22A= (n.2980-22A=)
c.3943-22A= (n.3943-22A=)
1g.197088455T>ACA2649660445ASPMn.3272-23A>T
c.9985-23A>T (n.9985-23A>T)
c.10207-23A>T (n.10207-23A>T)
c.9961-23A>T (n.9961-23A>T)
c.5230-23A>T (n.5230-23A>T)
c.2980-23A>T (n.2980-23A>T)
c.3943-23A>T (n.3943-23A>T)
 gnomAD v4
1g.197088455T>CCA35861141ASPMn.3272-23A>G
c.9985-23A>G (n.9985-23A>G)
c.10207-23A>G (n.10207-23A>G)
c.9961-23A>G (n.9961-23A>G)
c.5230-23A>G (n.5230-23A>G)
c.2980-23A>G (n.2980-23A>G)
c.3943-23A>G (n.3943-23A>G)
 dbSNP
1g.197088455T=CA1217923626ASPMn.3272-23A=
c.9985-23A= (n.9985-23A=)
c.10207-23A= (n.10207-23A=)
c.9961-23A= (n.9961-23A=)
c.5230-23A= (n.5230-23A=)
c.2980-23A= (n.2980-23A=)
c.3943-23A= (n.3943-23A=)
1g.197088457A>GCA2573977457ASPMn.3272-25T>C
c.9985-25T>C (n.9985-25T>C)
c.10207-25T>C (n.10207-25T>C)
c.9961-25T>C (n.9961-25T>C)
c.5230-25T>C (n.5230-25T>C)
c.2980-25T>C (n.2980-25T>C)
c.3943-25T>C (n.3943-25T>C)
 gnomAD v4
1g.197088458A>TCA2649660446ASPMn.3272-26T>A
c.9985-26T>A (n.9985-26T>A)
c.10207-26T>A (n.10207-26T>A)
c.9961-26T>A (n.9961-26T>A)
c.5230-26T>A (n.5230-26T>A)
c.2980-26T>A (n.2980-26T>A)
c.3943-26T>A (n.3943-26T>A)
 gnomAD v4
1g.197088459A>GCA2649660447ASPMn.3272-27T>C
c.9985-27T>C (n.9985-27T>C)
c.10207-27T>C (n.10207-27T>C)
c.9961-27T>C (n.9961-27T>C)
c.5230-27T>C (n.5230-27T>C)
c.2980-27T>C (n.2980-27T>C)
c.3943-27T>C (n.3943-27T>C)
 gnomAD v4
1g.197088460G>CCA1308809ASPMn.3272-28C>G
c.9985-28C>G (n.9985-28C>G)
c.10207-28C>G (n.10207-28C>G)
c.9961-28C>G (n.9961-28C>G)
c.5230-28C>G (n.5230-28C>G)
c.2980-28C>G (n.2980-28C>G)
c.3943-28C>G (n.3943-28C>G)
 dbSNP ExAC gnomAD v2
1g.197088460G=CA1217923627ASPMn.3272-28C=
c.9985-28C= (n.9985-28C=)
c.10207-28C= (n.10207-28C=)
c.9961-28C= (n.9961-28C=)
c.5230-28C= (n.5230-28C=)
c.2980-28C= (n.2980-28C=)
c.3943-28C= (n.3943-28C=)
1g.197088460G>TCA2649660448ASPMn.3272-28C>A
c.9985-28C>A (n.9985-28C>A)
c.10207-28C>A (n.10207-28C>A)
c.9961-28C>A (n.9961-28C>A)
c.5230-28C>A (n.5230-28C>A)
c.2980-28C>A (n.2980-28C>A)
c.3943-28C>A (n.3943-28C>A)
 gnomAD v4
1g.197088461T>ACA2573977484ASPMn.3272-29A>T
c.9985-29A>T (n.9985-29A>T)
c.10207-29A>T (n.10207-29A>T)
c.9961-29A>T (n.9961-29A>T)
c.5230-29A>T (n.5230-29A>T)
c.2980-29A>T (n.2980-29A>T)
c.3943-29A>T (n.3943-29A>T)
1g.197088461T>CCA729743999ASPMn.3272-29A>G
c.9985-29A>G (n.9985-29A>G)
c.10207-29A>G (n.10207-29A>G)
c.9961-29A>G (n.9961-29A>G)
c.5230-29A>G (n.5230-29A>G)
c.2980-29A>G (n.2980-29A>G)
c.3943-29A>G (n.3943-29A>G)
 dbSNP gnomAD v4
1g.197088461T=CA1217923628ASPMn.3272-29A=
c.9985-29A= (n.9985-29A=)
c.10207-29A= (n.10207-29A=)
c.9961-29A= (n.9961-29A=)
c.5230-29A= (n.5230-29A=)
c.2980-29A= (n.2980-29A=)
c.3943-29A= (n.3943-29A=)
1g.197088462T>CCA1308810ASPMn.3272-30A>G
c.9985-30A>G (n.9985-30A>G)
c.10207-30A>G (n.10207-30A>G)
c.9961-30A>G (n.9961-30A>G)
c.5230-30A>G (n.5230-30A>G)
c.2980-30A>G (n.2980-30A>G)
c.3943-30A>G (n.3943-30A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197088462T=CA1217923630ASPMn.3272-30A=
c.9985-30A= (n.9985-30A=)
c.10207-30A= (n.10207-30A=)
c.9961-30A= (n.9961-30A=)
c.5230-30A= (n.5230-30A=)
c.2980-30A= (n.2980-30A=)
c.3943-30A= (n.3943-30A=)
1g.197088463delCA2649660449ASPMn.3272-31del
c.9985-31del (n.9985-31del)
c.10207-31del (n.10207-31del)
c.9961-31del (n.9961-31del)
c.5230-31del (n.5230-31del)
c.2980-31del (n.2980-31del)
c.3943-31del (n.3943-31del)
 gnomAD v4
1g.197088463G>ACA2649660450ASPMn.3272-31C>T
c.9985-31C>T (n.9985-31C>T)
c.10207-31C>T (n.10207-31C>T)
c.9961-31C>T (n.9961-31C>T)
c.5230-31C>T (n.5230-31C>T)
c.2980-31C>T (n.2980-31C>T)
c.3943-31C>T (n.3943-31C>T)
 gnomAD v4
1g.197088463G>CCA2747239542ASPMn.3272-31C>G
c.9985-31C>G (n.9985-31C>G)
c.10207-31C>G (n.10207-31C>G)
c.9961-31C>G (n.9961-31C>G)
c.5230-31C>G (n.5230-31C>G)
c.2980-31C>G (n.2980-31C>G)
c.3943-31C>G (n.3943-31C>G)
1g.197088463G>TCA2649660451ASPMn.3272-31C>A
c.9985-31C>A (n.9985-31C>A)
c.10207-31C>A (n.10207-31C>A)
c.9961-31C>A (n.9961-31C>A)
c.5230-31C>A (n.5230-31C>A)
c.2980-31C>A (n.2980-31C>A)
c.3943-31C>A (n.3943-31C>A)
 gnomAD v4
1g.197088463_197088464insCAGACAAAGGCGCA2563865717ASPMn.3272-31_3272-30insGCCTTTGTCTGC
c.9985-31_9985-30insGCCTTTGTCTGC (n.9985-31_9985-30insGCCTTTGTCTGC)
c.10207-31_10207-30insGCCTTTGTCTGC (n.10207-31_10207-30insGCCTTTGTCTGC)
c.9961-31_9961-30insGCCTTTGTCTGC (n.9961-31_9961-30insGCCTTTGTCTGC)
c.5230-31_5230-30insGCCTTTGTCTGC (n.5230-31_5230-30insGCCTTTGTCTGC)
c.2980-31_2980-30insGCCTTTGTCTGC (n.2980-31_2980-30insGCCTTTGTCTGC)
c.3943-31_3943-30insGCCTTTGTCTGC (n.3943-31_3943-30insGCCTTTGTCTGC)
1g.197088464delCA2649660452ASPMn.3272-32del
c.9985-32del (n.9985-32del)
c.10207-32del (n.10207-32del)
c.9961-32del (n.9961-32del)
c.5230-32del (n.5230-32del)
c.2980-32del (n.2980-32del)
c.3943-32del (n.3943-32del)
 gnomAD v4
1g.197088464T>ACA2649660453ASPMn.3272-32A>T
c.9985-32A>T (n.9985-32A>T)
c.10207-32A>T (n.10207-32A>T)
c.9961-32A>T (n.9961-32A>T)
c.5230-32A>T (n.5230-32A>T)
c.2980-32A>T (n.2980-32A>T)
c.3943-32A>T (n.3943-32A>T)
 gnomAD v4
1g.197088464T>CCA1217923632ASPMn.3272-32A>G
c.9985-32A>G (n.9985-32A>G)
c.10207-32A>G (n.10207-32A>G)
c.9961-32A>G (n.9961-32A>G)
c.5230-32A>G (n.5230-32A>G)
c.2980-32A>G (n.2980-32A>G)
c.3943-32A>G (n.3943-32A>G)
 dbSNP gnomAD v4
1g.197088464T>GCA2513570079ASPMn.3272-32A>C
c.9985-32A>C (n.9985-32A>C)
c.10207-32A>C (n.10207-32A>C)
c.9961-32A>C (n.9961-32A>C)
c.5230-32A>C (n.5230-32A>C)
c.2980-32A>C (n.2980-32A>C)
c.3943-32A>C (n.3943-32A>C)
1g.197088464T=CA1217923631ASPMn.3272-32A=
c.9985-32A= (n.9985-32A=)
c.10207-32A= (n.10207-32A=)
c.9961-32A= (n.9961-32A=)
c.5230-32A= (n.5230-32A=)
c.2980-32A= (n.2980-32A=)
c.3943-32A= (n.3943-32A=)
1g.197088465A>GCA2649660454ASPMn.3272-33T>C
c.9985-33T>C (n.9985-33T>C)
c.10207-33T>C (n.10207-33T>C)
c.9961-33T>C (n.9961-33T>C)
c.5230-33T>C (n.5230-33T>C)
c.2980-33T>C (n.2980-33T>C)
c.3943-33T>C (n.3943-33T>C)
 gnomAD v4

Number of alleles fetched