Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.41933156_41933209delCA2687076939KAT6Ac.5022_5075del (p.Pro1675_Pro1692del)
c.5028_5081del (p.Pro1677_Pro1694del)
c.3703_3756del
c.5154_5207del (p.Pro1719_Pro1736del)
c.5133_5186del (p.Pro1712_Pro1729del)
c.5040_5093del (p.Pro1681_Pro1698del)
c.3594_3647del (p.Pro1199_Pro1216del)
gnomAD v4
8g.41933175_41933237delCA2687076941KAT6Ac.4988_5050del (p.Pro1663_Pro1683del)
c.4994_5056del (p.Pro1665_Pro1685del)
c.3669_3731del
c.5120_5182del (p.Pro1707_Pro1727del)
c.5099_5161del (p.Pro1700_Pro1720del)
c.5006_5068del (p.Pro1669_Pro1689del)
c.3560_3622del (p.Pro1187_Pro1207del)
gnomAD v4
8g.41933201_41933203dupCA4729375KAT6Ac.5022_5024dup (p.Pro1675_Gln1676insPro)
c.5028_5030dup (p.Pro1677_Gln1678insPro)
c.3703_3705dup
c.5154_5156dup (p.Pro1719_Gln1720insPro)
c.5133_5135dup (p.Pro1712_Gln1713insPro)
c.5040_5042dup (p.Pro1681_Gln1682insPro)
c.3594_3596dup (p.Pro1199_Gln1200insPro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933201T>ACA460783629KAT6Ac.5019A>T (p.Pro1673=)
c.5025A>T (p.Pro1675=)
c.3700A>T
c.5151A>T (p.Pro1717=)
c.5130A>T (p.Pro1710=)
c.5037A>T (p.Pro1679=)
c.3591A>T (p.Pro1197=)
ClinVar gnomAD v4
8g.41933201T>CCA460783630KAT6Ac.5019A>G (p.Pro1673=)
c.5025A>G (p.Pro1675=)
c.3700A>G
c.5151A>G (p.Pro1717=)
c.5130A>G (p.Pro1710=)
c.5037A>G (p.Pro1679=)
c.3591A>G (p.Pro1197=)
ClinVar dbSNP gnomAD v4
8g.41933201T>GCA460783632KAT6Ac.5019A>C (p.Pro1673=)
c.5025A>C (p.Pro1675=)
c.3700A>C
c.5151A>C (p.Pro1717=)
c.5130A>C (p.Pro1710=)
c.5037A>C (p.Pro1679=)
c.3591A>C (p.Pro1197=)
8g.41933201T=CA1779195816KAT6Ac.5019A= (p.Pro1673=)
c.5025A= (p.Pro1675=)
c.3700A=
c.5151A= (p.Pro1717=)
c.5130A= (p.Pro1710=)
c.5037A= (p.Pro1679=)
c.3591A= (p.Pro1197=)
8g.41933202G>ACA371063833KAT6Ac.5018C>T (p.Pro1673Leu)
c.5024C>T (p.Pro1675Leu)
c.3699C>T
c.5150C>T (p.Pro1717Leu)
c.5129C>T (p.Pro1710Leu)
c.5036C>T (p.Pro1679Leu)
c.3590C>T (p.Pro1197Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.41933202G>CCA371063834KAT6Ac.5018C>G (p.Pro1673Arg)
c.5024C>G (p.Pro1675Arg)
c.3699C>G
c.5150C>G (p.Pro1717Arg)
c.5129C>G (p.Pro1710Arg)
c.5036C>G (p.Pro1679Arg)
c.3590C>G (p.Pro1197Arg)
8g.41933202G=CA1779195817KAT6Ac.5018C= (p.Pro1673=)
c.5024C= (p.Pro1675=)
c.3699C=
c.5150C= (p.Pro1717=)
c.5129C= (p.Pro1710=)
c.5036C= (p.Pro1679=)
c.3590C= (p.Pro1197=)
8g.41933202G>TCA371063835KAT6Ac.5018C>A (p.Pro1673Gln)
c.5024C>A (p.Pro1675Gln)
c.3699C>A
c.5150C>A (p.Pro1717Gln)
c.5129C>A (p.Pro1710Gln)
c.5036C>A (p.Pro1679Gln)
c.3590C>A (p.Pro1197Gln)
gnomAD v4
8g.41933203G>ACA371063836KAT6Ac.5017C>T (p.Pro1673Ser)
c.5023C>T (p.Pro1675Ser)
c.3698C>T
c.5149C>T (p.Pro1717Ser)
c.5128C>T (p.Pro1710Ser)
c.5035C>T (p.Pro1679Ser)
c.3589C>T (p.Pro1197Ser)
8g.41933203G>CCA371063837KAT6Ac.5017C>G (p.Pro1673Ala)
c.5023C>G (p.Pro1675Ala)
c.3698C>G
c.5149C>G (p.Pro1717Ala)
c.5128C>G (p.Pro1710Ala)
c.5035C>G (p.Pro1679Ala)
c.3589C>G (p.Pro1197Ala)
8g.41933203G>TCA371063838KAT6Ac.5017C>A (p.Pro1673Thr)
c.5023C>A (p.Pro1675Thr)
c.3698C>A
c.5149C>A (p.Pro1717Thr)
c.5128C>A (p.Pro1710Thr)
c.5035C>A (p.Pro1679Thr)
c.3589C>A (p.Pro1197Thr)
gnomAD v4
8g.41933204A=CA1779195818KAT6Ac.5016T= (p.Pro1672=)
c.5022T= (p.Pro1674=)
c.3697T=
c.5148T= (p.Pro1716=)
c.5127T= (p.Pro1709=)
c.5034T= (p.Pro1678=)
c.3588T= (p.Pro1196=)
8g.41933204A>CCA460783639KAT6Ac.5016T>G (p.Pro1672=)
c.5022T>G (p.Pro1674=)
c.3697T>G
c.5148T>G (p.Pro1716=)
c.5127T>G (p.Pro1709=)
c.5034T>G (p.Pro1678=)
c.3588T>G (p.Pro1196=)
8g.41933204A>GCA175938859KAT6Ac.5016T>C (p.Pro1672=)
c.5022T>C (p.Pro1674=)
c.3697T>C
c.5148T>C (p.Pro1716=)
c.5127T>C (p.Pro1709=)
c.5034T>C (p.Pro1678=)
c.3588T>C (p.Pro1196=)
dbSNP gnomAD v4
8g.41933204A>TCA460783638KAT6Ac.5016T>A (p.Pro1672=)
c.5022T>A (p.Pro1674=)
c.3697T>A
c.5148T>A (p.Pro1716=)
c.5127T>A (p.Pro1709=)
c.5034T>A (p.Pro1678=)
c.3588T>A (p.Pro1196=)
8g.41933205G>ACA371063839KAT6Ac.5015C>T (p.Pro1672Leu)
c.5021C>T (p.Pro1674Leu)
c.3696C>T
c.5147C>T (p.Pro1716Leu)
c.5126C>T (p.Pro1709Leu)
c.5033C>T (p.Pro1678Leu)
c.3587C>T (p.Pro1196Leu)
8g.41933205G>CCA371063840KAT6Ac.5015C>G (p.Pro1672Arg)
c.5021C>G (p.Pro1674Arg)
c.3696C>G
c.5147C>G (p.Pro1716Arg)
c.5126C>G (p.Pro1709Arg)
c.5033C>G (p.Pro1678Arg)
c.3587C>G (p.Pro1196Arg)
8g.41933205G>TCA371063841KAT6Ac.5015C>A (p.Pro1672His)
c.5021C>A (p.Pro1674His)
c.3696C>A
c.5147C>A (p.Pro1716His)
c.5126C>A (p.Pro1709His)
c.5033C>A (p.Pro1678His)
c.3587C>A (p.Pro1196His)
8g.41933213_41933245delCA2687076946KAT6Ac.4983_5015del (p.Pro1662_Pro1672del)
c.4989_5021del (p.Pro1664_Pro1674del)
c.3664_3696del
c.5115_5147del (p.Pro1706_Pro1716del)
c.5094_5126del (p.Pro1699_Pro1709del)
c.5001_5033del (p.Pro1668_Pro1678del)
c.3555_3587del (p.Pro1186_Pro1196del)
gnomAD v4
8g.41933210_41933272delCA581928330KAT6Ac.4953_5015del (p.Pro1652_Pro1672del)
c.4959_5021del (p.Pro1654_Pro1674del)
c.3634_3696del
c.5085_5147del (p.Pro1696_Pro1716del)
c.5064_5126del (p.Pro1689_Pro1709del)
c.4971_5033del (p.Pro1658_Pro1678del)
c.3525_3587del (p.Pro1176_Pro1196del)
ClinVar gnomAD v2 gnomAD v4
8g.41933206G>ACA371063842KAT6Ac.5014C>T (p.Pro1672Ser)
c.5020C>T (p.Pro1674Ser)
c.3695C>T
c.5146C>T (p.Pro1716Ser)
c.5125C>T (p.Pro1709Ser)
c.5032C>T (p.Pro1678Ser)
c.3586C>T (p.Pro1196Ser)
8g.41933206G>CCA371063843KAT6Ac.5014C>G (p.Pro1672Ala)
c.5020C>G (p.Pro1674Ala)
c.3695C>G
c.5146C>G (p.Pro1716Ala)
c.5125C>G (p.Pro1709Ala)
c.5032C>G (p.Pro1678Ala)
c.3586C>G (p.Pro1196Ala)
8g.41933206G>TCA371063844KAT6Ac.5014C>A (p.Pro1672Thr)
c.5020C>A (p.Pro1674Thr)
c.3695C>A
c.5146C>A (p.Pro1716Thr)
c.5125C>A (p.Pro1709Thr)
c.5032C>A (p.Pro1678Thr)
c.3586C>A (p.Pro1196Thr)
8g.41933207C>ACA371063845KAT6Ac.5013G>T (p.Gln1671His)
c.5019G>T (p.Gln1673His)
c.3694G>T
c.5145G>T (p.Gln1715His)
c.5124G>T (p.Gln1708His)
c.5031G>T (p.Gln1677His)
c.3585G>T (p.Gln1195His)
gnomAD v4
8g.41933207C>GCA371063846KAT6Ac.5013G>C (p.Gln1671His)
c.5019G>C (p.Gln1673His)
c.3694G>C
c.5145G>C (p.Gln1715His)
c.5124G>C (p.Gln1708His)
c.5031G>C (p.Gln1677His)
c.3585G>C (p.Gln1195His)
8g.41933207C>TCA460783642KAT6Ac.5013G>A (p.Gln1671=)
c.5019G>A (p.Gln1673=)
c.3694G>A
c.5145G>A (p.Gln1715=)
c.5124G>A (p.Gln1708=)
c.5031G>A (p.Gln1677=)
c.3585G>A (p.Gln1195=)
gnomAD v4
8g.41933208T>ACA371063847KAT6Ac.5012A>T (p.Gln1671Leu)
c.5018A>T (p.Gln1673Leu)
c.3693A>T
c.5144A>T (p.Gln1715Leu)
c.5123A>T (p.Gln1708Leu)
c.5030A>T (p.Gln1677Leu)
c.3584A>T (p.Gln1195Leu)
8g.41933208T>CCA371063848KAT6Ac.5012A>G (p.Gln1671Arg)
c.5018A>G (p.Gln1673Arg)
c.3693A>G
c.5144A>G (p.Gln1715Arg)
c.5123A>G (p.Gln1708Arg)
c.5030A>G (p.Gln1677Arg)
c.3584A>G (p.Gln1195Arg)
gnomAD v4
8g.41933208T>GCA371063849KAT6Ac.5012A>C (p.Gln1671Pro)
c.5018A>C (p.Gln1673Pro)
c.3693A>C
c.5144A>C (p.Gln1715Pro)
c.5123A>C (p.Gln1708Pro)
c.5030A>C (p.Gln1677Pro)
c.3584A>C (p.Gln1195Pro)
8g.41933214_41933225dupCA1139532356KAT6Ac.5001_5012dup (p.Gln1671_Pro1672insProAlaProGln)
c.5007_5018dup (p.Gln1673_Pro1674insProAlaProGln)
c.3682_3693dup
c.5133_5144dup (p.Gln1715_Pro1716insProAlaProGln)
c.5112_5123dup (p.Gln1708_Pro1709insProAlaProGln)
c.5019_5030dup (p.Gln1677_Pro1678insProAlaProGln)
c.3573_3584dup (p.Gln1195_Pro1196insProAlaProGln)
ClinVar dbSNP
8g.41933208_41933259delinsTGTGGTGCTGGTTGTGGTTGTGGCGGCGGCGGCTGTGGCTGCTGTGGAGGCGCA1779195819KAT6Ac.4961_5012delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1654=)
c.4967_5018delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1656=)
c.3642_3693delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA
c.5093_5144delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1698=)
c.5072_5123delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1691=)
c.4979_5030delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1660=)
c.3533_3584delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1178=)
8g.41933209G>ACA371063850KAT6Ac.5011C>T (p.Gln1671Ter)
c.5017C>T (p.Gln1673Ter)
c.3692C>T
c.5143C>T (p.Gln1715Ter)
c.5122C>T (p.Gln1708Ter)
c.5029C>T (p.Gln1677Ter)
c.3583C>T (p.Gln1195Ter)
8g.41933209G>CCA371063851KAT6Ac.5011C>G (p.Gln1671Glu)
c.5017C>G (p.Gln1673Glu)
c.3692C>G
c.5143C>G (p.Gln1715Glu)
c.5122C>G (p.Gln1708Glu)
c.5029C>G (p.Gln1677Glu)
c.3583C>G (p.Gln1195Glu)
8g.41933209G>TCA371063852KAT6Ac.5011C>A (p.Gln1671Lys)
c.5017C>A (p.Gln1673Lys)
c.3692C>A
c.5143C>A (p.Gln1715Lys)
c.5122C>A (p.Gln1708Lys)
c.5029C>A (p.Gln1677Lys)
c.3583C>A (p.Gln1195Lys)
8g.41933215_41933265delCA1113181407KAT6Ac.4961_5011del (p.Pro1654_Pro1670del)
c.4967_5017del (p.Pro1656_Pro1672del)
c.3642_3692del
c.5093_5143del (p.Pro1698_Pro1714del)
c.5072_5122del (p.Pro1691_Pro1707del)
c.4979_5029del (p.Pro1660_Pro1676del)
c.3533_3583del (p.Pro1178_Pro1194del)
dbSNP gnomAD v3 gnomAD v4
8g.41933210T>ACA460783647KAT6Ac.5010A>T (p.Pro1670=)
c.5016A>T (p.Pro1672=)
c.3691A>T
c.5142A>T (p.Pro1714=)
c.5121A>T (p.Pro1707=)
c.5028A>T (p.Pro1676=)
c.3582A>T (p.Pro1194=)
dbSNP
8g.41933210T>CCA4729377KAT6Ac.5010A>G (p.Pro1670=)
c.5016A>G (p.Pro1672=)
c.3691A>G
c.5142A>G (p.Pro1714=)
c.5121A>G (p.Pro1707=)
c.5028A>G (p.Pro1676=)
c.3582A>G (p.Pro1194=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933210T>GCA460783650KAT6Ac.5010A>C (p.Pro1670=)
c.5016A>C (p.Pro1672=)
c.3691A>C
c.5142A>C (p.Pro1714=)
c.5121A>C (p.Pro1707=)
c.5028A>C (p.Pro1676=)
c.3582A>C (p.Pro1194=)
dbSNP gnomAD v2 gnomAD v4
8g.41933210T=CA1779195820KAT6Ac.5010A= (p.Pro1670=)
c.5016A= (p.Pro1672=)
c.3691A=
c.5142A= (p.Pro1714=)
c.5121A= (p.Pro1707=)
c.5028A= (p.Pro1676=)
c.3582A= (p.Pro1194=)
8g.41933211G>ACA4729378KAT6Ac.5009C>T (p.Pro1670Leu)
c.5015C>T (p.Pro1672Leu)
c.3690C>T
c.5141C>T (p.Pro1714Leu)
c.5120C>T (p.Pro1707Leu)
c.5027C>T (p.Pro1676Leu)
c.3581C>T (p.Pro1194Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933211G>CCA371063853KAT6Ac.5009C>G (p.Pro1670Arg)
c.5015C>G (p.Pro1672Arg)
c.3690C>G
c.5141C>G (p.Pro1714Arg)
c.5120C>G (p.Pro1707Arg)
c.5027C>G (p.Pro1676Arg)
c.3581C>G (p.Pro1194Arg)
8g.41933211G=CA1779195821KAT6Ac.5009C= (p.Pro1670=)
c.5015C= (p.Pro1672=)
c.3690C=
c.5141C= (p.Pro1714=)
c.5120C= (p.Pro1707=)
c.5027C= (p.Pro1676=)
c.3581C= (p.Pro1194=)
8g.41933211G>TCA371063854KAT6Ac.5009C>A (p.Pro1670Gln)
c.5015C>A (p.Pro1672Gln)
c.3690C>A
c.5141C>A (p.Pro1714Gln)
c.5120C>A (p.Pro1707Gln)
c.5027C>A (p.Pro1676Gln)
c.3581C>A (p.Pro1194Gln)
ClinVar dbSNP gnomAD v4
8g.41933212G>ACA371063855KAT6Ac.5008C>T (p.Pro1670Ser)
c.5014C>T (p.Pro1672Ser)
c.3689C>T
c.5140C>T (p.Pro1714Ser)
c.5119C>T (p.Pro1707Ser)
c.5026C>T (p.Pro1676Ser)
c.3580C>T (p.Pro1194Ser)
8g.41933212G>CCA371063856KAT6Ac.5008C>G (p.Pro1670Ala)
c.5014C>G (p.Pro1672Ala)
c.3689C>G
c.5140C>G (p.Pro1714Ala)
c.5119C>G (p.Pro1707Ala)
c.5026C>G (p.Pro1676Ala)
c.3580C>G (p.Pro1194Ala)
8g.41933212G>TCA371063857KAT6Ac.5008C>A (p.Pro1670Thr)
c.5014C>A (p.Pro1672Thr)
c.3689C>A
c.5140C>A (p.Pro1714Thr)
c.5119C>A (p.Pro1707Thr)
c.5026C>A (p.Pro1676Thr)
c.3580C>A (p.Pro1194Thr)
gnomAD v4
8g.41933213T>ACA460783657KAT6Ac.5007A>T (p.Ala1669=)
c.5013A>T (p.Ala1671=)
c.3688A>T
c.5139A>T (p.Ala1713=)
c.5118A>T (p.Ala1706=)
c.5025A>T (p.Ala1675=)
c.3579A>T (p.Ala1193=)
8g.41933213T>CCA460783658KAT6Ac.5007A>G (p.Ala1669=)
c.5013A>G (p.Ala1671=)
c.3688A>G
c.5139A>G (p.Ala1713=)
c.5118A>G (p.Ala1706=)
c.5025A>G (p.Ala1675=)
c.3579A>G (p.Ala1193=)
8g.41933213T>GCA460783659KAT6Ac.5007A>C (p.Ala1669=)
c.5013A>C (p.Ala1671=)
c.3688A>C
c.5139A>C (p.Ala1713=)
c.5118A>C (p.Ala1706=)
c.5025A>C (p.Ala1675=)
c.3579A>C (p.Ala1193=)
8g.41933214G>ACA371063858KAT6Ac.5006C>T (p.Ala1669Val)
c.5012C>T (p.Ala1671Val)
c.3687C>T
c.5138C>T (p.Ala1713Val)
c.5117C>T (p.Ala1706Val)
c.5024C>T (p.Ala1675Val)
c.3578C>T (p.Ala1193Val)
gnomAD v4
8g.41933214G>CCA371063859KAT6Ac.5006C>G (p.Ala1669Gly)
c.5012C>G (p.Ala1671Gly)
c.3687C>G
c.5138C>G (p.Ala1713Gly)
c.5117C>G (p.Ala1706Gly)
c.5024C>G (p.Ala1675Gly)
c.3578C>G (p.Ala1193Gly)
8g.41933214G>TCA371063860KAT6Ac.5006C>A (p.Ala1669Glu)
c.5012C>A (p.Ala1671Glu)
c.3687C>A
c.5138C>A (p.Ala1713Glu)
c.5117C>A (p.Ala1706Glu)
c.5024C>A (p.Ala1675Glu)
c.3578C>A (p.Ala1193Glu)
gnomAD v4
8g.41933215C>ACA371063861KAT6Ac.5005G>T (p.Ala1669Ser)
c.5011G>T (p.Ala1671Ser)
c.3686G>T
c.5137G>T (p.Ala1713Ser)
c.5116G>T (p.Ala1706Ser)
c.5023G>T (p.Ala1675Ser)
c.3577G>T (p.Ala1193Ser)
gnomAD v4
8g.41933215C>GCA371063863KAT6Ac.5005G>C (p.Ala1669Pro)
c.5011G>C (p.Ala1671Pro)
c.3686G>C
c.5137G>C (p.Ala1713Pro)
c.5116G>C (p.Ala1706Pro)
c.5023G>C (p.Ala1675Pro)
c.3577G>C (p.Ala1193Pro)
8g.41933215C>TCA371063862KAT6Ac.5005G>A (p.Ala1669Thr)
c.5011G>A (p.Ala1671Thr)
c.3686G>A
c.5137G>A (p.Ala1713Thr)
c.5116G>A (p.Ala1706Thr)
c.5023G>A (p.Ala1675Thr)
c.3577G>A (p.Ala1193Thr)
gnomAD v4
8g.41933215_41933220dupCA2687076947KAT6Ac.5000_5005dup (p.Pro1668_Ala1669insGluPro)
c.5006_5011dup (p.Pro1670_Ala1671insGluPro)
c.3681_3686dup
c.5132_5137dup (p.Pro1712_Ala1713insGluPro)
c.5111_5116dup (p.Pro1705_Ala1706insGluPro)
c.5018_5023dup (p.Pro1674_Ala1675insGluPro)
c.3572_3577dup (p.Pro1192_Ala1193insGluPro)
gnomAD v4
8g.41933215_41933221delinsCTGGTTGCA1779195822KAT6Ac.4999_5005delinsCAACCAG (p.Gln1667=)
c.5005_5011delinsCAACCAG (p.Gln1669=)
c.3680_3686delinsCAACCAG
c.5131_5137delinsCAACCAG (p.Gln1711=)
c.5110_5116delinsCAACCAG (p.Gln1704=)
c.5017_5023delinsCAACCAG (p.Gln1673=)
c.3571_3577delinsCAACCAG (p.Gln1191=)
8g.41933216T>ACA460783671KAT6Ac.5004A>T (p.Pro1668=)
c.5010A>T (p.Pro1670=)
c.3685A>T
c.5136A>T (p.Pro1712=)
c.5115A>T (p.Pro1705=)
c.5022A>T (p.Pro1674=)
c.3576A>T (p.Pro1192=)
8g.41933216T>CCA460783672KAT6Ac.5004A>G (p.Pro1668=)
c.5010A>G (p.Pro1670=)
c.3685A>G
c.5136A>G (p.Pro1712=)
c.5115A>G (p.Pro1705=)
c.5022A>G (p.Pro1674=)
c.3576A>G (p.Pro1192=)
8g.41933216T>GCA460783673KAT6Ac.5004A>C (p.Pro1668=)
c.5010A>C (p.Pro1670=)
c.3685A>C
c.5136A>C (p.Pro1712=)
c.5115A>C (p.Pro1705=)
c.5022A>C (p.Pro1674=)
c.3576A>C (p.Pro1192=)
8g.41933225_41933230dupCA175938865KAT6Ac.4999_5004dup (p.Pro1668_Ala1669insGlnPro)
c.5005_5010dup (p.Pro1670_Ala1671insGlnPro)
c.3680_3685dup
c.5131_5136dup (p.Pro1712_Ala1713insGlnPro)
c.5110_5115dup (p.Pro1705_Ala1706insGlnPro)
c.5017_5022dup (p.Pro1674_Ala1675insGlnPro)
c.3571_3576dup (p.Pro1192_Ala1193insGlnPro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41933225_41933230delCA175938870KAT6Ac.4999_5004del (p.Gln1667_Pro1668del)
c.5005_5010del (p.Gln1669_Pro1670del)
c.3680_3685del
c.5131_5136del (p.Gln1711_Pro1712del)
c.5110_5115del (p.Gln1704_Pro1705del)
c.5017_5022del (p.Gln1673_Pro1674del)
c.3571_3576del (p.Gln1191_Pro1192del)
dbSNP gnomAD v4
8g.41933217G>ACA371063864KAT6Ac.5003C>T (p.Pro1668Leu)
c.5009C>T (p.Pro1670Leu)
c.3684C>T
c.5135C>T (p.Pro1712Leu)
c.5114C>T (p.Pro1705Leu)
c.5021C>T (p.Pro1674Leu)
c.3575C>T (p.Pro1192Leu)
8g.41933217G>CCA371063865KAT6Ac.5003C>G (p.Pro1668Arg)
c.5009C>G (p.Pro1670Arg)
c.3684C>G
c.5135C>G (p.Pro1712Arg)
c.5114C>G (p.Pro1705Arg)
c.5021C>G (p.Pro1674Arg)
c.3575C>G (p.Pro1192Arg)
8g.41933217G>TCA371063866KAT6Ac.5003C>A (p.Pro1668Gln)
c.5009C>A (p.Pro1670Gln)
c.3684C>A
c.5135C>A (p.Pro1712Gln)
c.5114C>A (p.Pro1705Gln)
c.5021C>A (p.Pro1674Gln)
c.3575C>A (p.Pro1192Gln)
gnomAD v4
8g.41933218G>ACA371063867KAT6Ac.5002C>T (p.Pro1668Ser)
c.5008C>T (p.Pro1670Ser)
c.3683C>T
c.5134C>T (p.Pro1712Ser)
c.5113C>T (p.Pro1705Ser)
c.5020C>T (p.Pro1674Ser)
c.3574C>T (p.Pro1192Ser)
dbSNP gnomAD v2 gnomAD v4
8g.41933218G>CCA371063868KAT6Ac.5002C>G (p.Pro1668Ala)
c.5008C>G (p.Pro1670Ala)
c.3683C>G
c.5134C>G (p.Pro1712Ala)
c.5113C>G (p.Pro1705Ala)
c.5020C>G (p.Pro1674Ala)
c.3574C>G (p.Pro1192Ala)
8g.41933218G=CA1779195823KAT6Ac.5002C= (p.Pro1668=)
c.5008C= (p.Pro1670=)
c.3683C=
c.5134C= (p.Pro1712=)
c.5113C= (p.Pro1705=)
c.5020C= (p.Pro1674=)
c.3574C= (p.Pro1192=)
8g.41933218G>TCA371063869KAT6Ac.5002C>A (p.Pro1668Thr)
c.5008C>A (p.Pro1670Thr)
c.3683C>A
c.5134C>A (p.Pro1712Thr)
c.5113C>A (p.Pro1705Thr)
c.5020C>A (p.Pro1674Thr)
c.3574C>A (p.Pro1192Thr)
gnomAD v4
8g.41933219T>ACA371063870KAT6Ac.5001A>T (p.Gln1667His)
c.5007A>T (p.Gln1669His)
c.3682A>T
c.5133A>T (p.Gln1711His)
c.5112A>T (p.Gln1704His)
c.5019A>T (p.Gln1673His)
c.3573A>T (p.Gln1191His)
8g.41933219T>CCA4729379KAT6Ac.5001A>G (p.Gln1667=)
c.5007A>G (p.Gln1669=)
c.3682A>G
c.5133A>G (p.Gln1711=)
c.5112A>G (p.Gln1704=)
c.5019A>G (p.Gln1673=)
c.3573A>G (p.Gln1191=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933219T>GCA371063871KAT6Ac.5001A>C (p.Gln1667His)
c.5007A>C (p.Gln1669His)
c.3682A>C
c.5133A>C (p.Gln1711His)
c.5112A>C (p.Gln1704His)
c.5019A>C (p.Gln1673His)
c.3573A>C (p.Gln1191His)
8g.41933219T=CA1779195824KAT6Ac.5001A= (p.Gln1667=)
c.5007A= (p.Gln1669=)
c.3682A=
c.5133A= (p.Gln1711=)
c.5112A= (p.Gln1704=)
c.5019A= (p.Gln1673=)
c.3573A= (p.Gln1191=)
8g.41933220T>ACA371063872KAT6Ac.5000A>T (p.Gln1667Leu)
c.5006A>T (p.Gln1669Leu)
c.3681A>T
c.5132A>T (p.Gln1711Leu)
c.5111A>T (p.Gln1704Leu)
c.5018A>T (p.Gln1673Leu)
c.3572A>T (p.Gln1191Leu)
8g.41933220T>CCA371063874KAT6Ac.5000A>G (p.Gln1667Arg)
c.5006A>G (p.Gln1669Arg)
c.3681A>G
c.5132A>G (p.Gln1711Arg)
c.5111A>G (p.Gln1704Arg)
c.5018A>G (p.Gln1673Arg)
c.3572A>G (p.Gln1191Arg)
8g.41933220T>GCA371063875KAT6Ac.5000A>C (p.Gln1667Pro)
c.5006A>C (p.Gln1669Pro)
c.3681A>C
c.5132A>C (p.Gln1711Pro)
c.5111A>C (p.Gln1704Pro)
c.5018A>C (p.Gln1673Pro)
c.3572A>C (p.Gln1191Pro)
8g.41933221G>ACA371063876KAT6Ac.4999C>T (p.Gln1667Ter)
c.5005C>T (p.Gln1669Ter)
c.3680C>T
c.5131C>T (p.Gln1711Ter)
c.5110C>T (p.Gln1704Ter)
c.5017C>T (p.Gln1673Ter)
c.3571C>T (p.Gln1191Ter)
8g.41933221G>CCA371063878KAT6Ac.4999C>G (p.Gln1667Glu)
c.5005C>G (p.Gln1669Glu)
c.3680C>G
c.5131C>G (p.Gln1711Glu)
c.5110C>G (p.Gln1704Glu)
c.5017C>G (p.Gln1673Glu)
c.3571C>G (p.Gln1191Glu)
8g.41933221G>TCA371063877KAT6Ac.4999C>A (p.Gln1667Lys)
c.5005C>A (p.Gln1669Lys)
c.3680C>A
c.5131C>A (p.Gln1711Lys)
c.5110C>A (p.Gln1704Lys)
c.5017C>A (p.Gln1673Lys)
c.3571C>A (p.Gln1191Lys)
gnomAD v4
8g.41933222T>ACA460783685KAT6Ac.4998A>T (p.Pro1666=)
c.5004A>T (p.Pro1668=)
c.3679A>T
c.5130A>T (p.Pro1710=)
c.5109A>T (p.Pro1703=)
c.5016A>T (p.Pro1672=)
c.3570A>T (p.Pro1190=)
8g.41933222T>CCA460783687KAT6Ac.4998A>G (p.Pro1666=)
c.5004A>G (p.Pro1668=)
c.3679A>G
c.5130A>G (p.Pro1710=)
c.5109A>G (p.Pro1703=)
c.5016A>G (p.Pro1672=)
c.3570A>G (p.Pro1190=)
ClinVar
8g.41933222T>GCA460783689KAT6Ac.4998A>C (p.Pro1666=)
c.5004A>C (p.Pro1668=)
c.3679A>C
c.5130A>C (p.Pro1710=)
c.5109A>C (p.Pro1703=)
c.5016A>C (p.Pro1672=)
c.3570A>C (p.Pro1190=)
8g.41933223G>ACA371063879KAT6Ac.4997C>T (p.Pro1666Leu)
c.5003C>T (p.Pro1668Leu)
c.3678C>T
c.5129C>T (p.Pro1710Leu)
c.5108C>T (p.Pro1703Leu)
c.5015C>T (p.Pro1672Leu)
c.3569C>T (p.Pro1190Leu)
COSMIC
8g.41933223G>CCA371063880KAT6Ac.4997C>G (p.Pro1666Arg)
c.5003C>G (p.Pro1668Arg)
c.3678C>G
c.5129C>G (p.Pro1710Arg)
c.5108C>G (p.Pro1703Arg)
c.5015C>G (p.Pro1672Arg)
c.3569C>G (p.Pro1190Arg)
8g.41933223G>TCA371063881KAT6Ac.4997C>A (p.Pro1666Gln)
c.5003C>A (p.Pro1668Gln)
c.3678C>A
c.5129C>A (p.Pro1710Gln)
c.5108C>A (p.Pro1703Gln)
c.5015C>A (p.Pro1672Gln)
c.3569C>A (p.Pro1190Gln)
8g.41933224G>ACA371063882KAT6Ac.4996C>T (p.Pro1666Ser)
c.5002C>T (p.Pro1668Ser)
c.3677C>T
c.5128C>T (p.Pro1710Ser)
c.5107C>T (p.Pro1703Ser)
c.5014C>T (p.Pro1672Ser)
c.3568C>T (p.Pro1190Ser)
dbSNP gnomAD v3 gnomAD v4
8g.41933224G>CCA371063883KAT6Ac.4996C>G (p.Pro1666Ala)
c.5002C>G (p.Pro1668Ala)
c.3677C>G
c.5128C>G (p.Pro1710Ala)
c.5107C>G (p.Pro1703Ala)
c.5014C>G (p.Pro1672Ala)
c.3568C>G (p.Pro1190Ala)
dbSNP gnomAD v3 gnomAD v4
8g.41933224G=CA1779195825KAT6Ac.4996C= (p.Pro1666=)
c.5002C= (p.Pro1668=)
c.3677C=
c.5128C= (p.Pro1710=)
c.5107C= (p.Pro1703=)
c.5014C= (p.Pro1672=)
c.3568C= (p.Pro1190=)
8g.41933224G>TCA371063884KAT6Ac.4996C>A (p.Pro1666Thr)
c.5002C>A (p.Pro1668Thr)
c.3677C>A
c.5128C>A (p.Pro1710Thr)
c.5107C>A (p.Pro1703Thr)
c.5014C>A (p.Pro1672Thr)
c.3568C>A (p.Pro1190Thr)
gnomAD v4
8g.41933225T>ACA371063885KAT6Ac.4995A>T (p.Gln1665His)
c.5001A>T (p.Gln1667His)
c.3676A>T
c.5127A>T (p.Gln1709His)
c.5106A>T (p.Gln1702His)
c.5013A>T (p.Gln1671His)
c.3567A>T (p.Gln1189His)
8g.41933225T>CCA4729380KAT6Ac.4995A>G (p.Gln1665=)
c.5001A>G (p.Gln1667=)
c.3676A>G
c.5127A>G (p.Gln1709=)
c.5106A>G (p.Gln1702=)
c.5013A>G (p.Gln1671=)
c.3567A>G (p.Gln1189=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933225T>GCA371063886KAT6Ac.4995A>C (p.Gln1665His)
c.5001A>C (p.Gln1667His)
c.3676A>C
c.5127A>C (p.Gln1709His)
c.5106A>C (p.Gln1702His)
c.5013A>C (p.Gln1671His)
c.3567A>C (p.Gln1189His)
8g.41933225T=CA1779195826KAT6Ac.4995A= (p.Gln1665=)
c.5001A= (p.Gln1667=)
c.3676A=
c.5127A= (p.Gln1709=)
c.5106A= (p.Gln1702=)
c.5013A= (p.Gln1671=)
c.3567A= (p.Gln1189=)
8g.41933226T>ACA371063887KAT6Ac.4994A>T (p.Gln1665Leu)
c.5000A>T (p.Gln1667Leu)
c.3675A>T
c.5126A>T (p.Gln1709Leu)
c.5105A>T (p.Gln1702Leu)
c.5012A>T (p.Gln1671Leu)
c.3566A>T (p.Gln1189Leu)
8g.41933226T>CCA371063888KAT6Ac.4994A>G (p.Gln1665Arg)
c.5000A>G (p.Gln1667Arg)
c.3675A>G
c.5126A>G (p.Gln1709Arg)
c.5105A>G (p.Gln1702Arg)
c.5012A>G (p.Gln1671Arg)
c.3566A>G (p.Gln1189Arg)
8g.41933226T>GCA371063889KAT6Ac.4994A>C (p.Gln1665Pro)
c.5000A>C (p.Gln1667Pro)
c.3675A>C
c.5126A>C (p.Gln1709Pro)
c.5105A>C (p.Gln1702Pro)
c.5012A>C (p.Gln1671Pro)
c.3566A>C (p.Gln1189Pro)
8g.41933231_41933254dupCA2740095013KAT6Ac.4971_4994dup (p.Gln1665_Pro1666insGlnProGlnProProProProGln)
c.4977_5000dup (p.Gln1667_Pro1668insGlnProGlnProProProProGln)
c.3652_3675dup
c.5103_5126dup (p.Gln1709_Pro1710insGlnProGlnProProProProGln)
c.5082_5105dup (p.Gln1702_Pro1703insGlnProGlnProProProProGln)
c.4989_5012dup (p.Gln1671_Pro1672insGlnProGlnProProProProGln)
c.3543_3566dup (p.Gln1189_Pro1190insGlnProGlnProProProProGln)
ClinVar
8g.41933227G>ACA371063892KAT6Ac.4993C>T (p.Gln1665Ter)
c.4999C>T (p.Gln1667Ter)
c.3674C>T
c.5125C>T (p.Gln1709Ter)
c.5104C>T (p.Gln1702Ter)
c.5011C>T (p.Gln1671Ter)
c.3565C>T (p.Gln1189Ter)
8g.41933227G>CCA371063891KAT6Ac.4993C>G (p.Gln1665Glu)
c.4999C>G (p.Gln1667Glu)
c.3674C>G
c.5125C>G (p.Gln1709Glu)
c.5104C>G (p.Gln1702Glu)
c.5011C>G (p.Gln1671Glu)
c.3565C>G (p.Gln1189Glu)
8g.41933227G>TCA371063890KAT6Ac.4993C>A (p.Gln1665Lys)
c.4999C>A (p.Gln1667Lys)
c.3674C>A
c.5125C>A (p.Gln1709Lys)
c.5104C>A (p.Gln1702Lys)
c.5011C>A (p.Gln1671Lys)
c.3565C>A (p.Gln1189Lys)
8g.41933235_41933270delCA2687076948KAT6Ac.4958_4993del (p.Pro1653_Pro1664del)
c.4964_4999del (p.Pro1655_Pro1666del)
c.3639_3674del
c.5090_5125del (p.Pro1697_Pro1708del)
c.5069_5104del (p.Pro1690_Pro1701del)
c.4976_5011del (p.Pro1659_Pro1670del)
c.3530_3565del (p.Pro1177_Pro1188del)
gnomAD v4
8g.41933228T>ACA460783701KAT6Ac.4992A>T (p.Pro1664=)
c.4998A>T (p.Pro1666=)
c.3673A>T
c.5124A>T (p.Pro1708=)
c.5103A>T (p.Pro1701=)
c.5010A>T (p.Pro1670=)
c.3564A>T (p.Pro1188=)
8g.41933228T>CCA175938882KAT6Ac.4992A>G (p.Pro1664=)
c.4998A>G (p.Pro1666=)
c.3673A>G
c.5124A>G (p.Pro1708=)
c.5103A>G (p.Pro1701=)
c.5010A>G (p.Pro1670=)
c.3564A>G (p.Pro1188=)
dbSNP gnomAD v4
8g.41933228T>GCA460783702KAT6Ac.4992A>C (p.Pro1664=)
c.4998A>C (p.Pro1666=)
c.3673A>C
c.5124A>C (p.Pro1708=)
c.5103A>C (p.Pro1701=)
c.5010A>C (p.Pro1670=)
c.3564A>C (p.Pro1188=)
8g.41933228T=CA1779195828KAT6Ac.4992A= (p.Pro1664=)
c.4998A= (p.Pro1666=)
c.3673A=
c.5124A= (p.Pro1708=)
c.5103A= (p.Pro1701=)
c.5010A= (p.Pro1670=)
c.3564A= (p.Pro1188=)
8g.41933228_41933234delinsTGGCGGCCA1779195827KAT6Ac.4986_4992delinsGCCGCCA (p.Pro1662=)
c.4992_4998delinsGCCGCCA (p.Pro1664=)
c.3667_3673delinsGCCGCCA
c.5118_5124delinsGCCGCCA (p.Pro1706=)
c.5097_5103delinsGCCGCCA (p.Pro1699=)
c.5004_5010delinsGCCGCCA (p.Pro1668=)
c.3558_3564delinsGCCGCCA (p.Pro1186=)
8g.41933229G>ACA371063893KAT6Ac.4991C>T (p.Pro1664Leu)
c.4997C>T (p.Pro1666Leu)
c.3672C>T
c.5123C>T (p.Pro1708Leu)
c.5102C>T (p.Pro1701Leu)
c.5009C>T (p.Pro1670Leu)
c.3563C>T (p.Pro1188Leu)
8g.41933229G>CCA371063894KAT6Ac.4991C>G (p.Pro1664Arg)
c.4997C>G (p.Pro1666Arg)
c.3672C>G
c.5123C>G (p.Pro1708Arg)
c.5102C>G (p.Pro1701Arg)
c.5009C>G (p.Pro1670Arg)
c.3563C>G (p.Pro1188Arg)
8g.41933229G>TCA371063895KAT6Ac.4991C>A (p.Pro1664Gln)
c.4997C>A (p.Pro1666Gln)
c.3672C>A
c.5123C>A (p.Pro1708Gln)
c.5102C>A (p.Pro1701Gln)
c.5009C>A (p.Pro1670Gln)
c.3563C>A (p.Pro1188Gln)
8g.41933238_41933240dupCA2687076949KAT6Ac.4989_4991dup (p.Pro1664_Gln1665insPro)
c.4995_4997dup (p.Pro1666_Gln1667insPro)
c.3670_3672dup
c.5121_5123dup (p.Pro1708_Gln1709insPro)
c.5100_5102dup (p.Pro1701_Gln1702insPro)
c.5007_5009dup (p.Pro1670_Gln1671insPro)
c.3561_3563dup (p.Pro1188_Gln1189insPro)
gnomAD v4
8g.41933235_41933240dupCA2687076950KAT6Ac.4986_4991dup (p.Pro1664_Gln1665insProPro)
c.4992_4997dup (p.Pro1666_Gln1667insProPro)
c.3667_3672dup
c.5118_5123dup (p.Pro1708_Gln1709insProPro)
c.5097_5102dup (p.Pro1701_Gln1702insProPro)
c.5004_5009dup (p.Pro1670_Gln1671insProPro)
c.3558_3563dup (p.Pro1188_Gln1189insProPro)
gnomAD v4
8g.41933232_41933240dupCA175938886KAT6Ac.4983_4991dup (p.Pro1664_Gln1665insProProPro)
c.4989_4997dup (p.Pro1666_Gln1667insProProPro)
c.3664_3672dup
c.5115_5123dup (p.Pro1708_Gln1709insProProPro)
c.5094_5102dup (p.Pro1701_Gln1702insProProPro)
c.5001_5009dup (p.Pro1670_Gln1671insProProPro)
c.3555_3563dup (p.Pro1188_Gln1189insProProPro)
dbSNP gnomAD v4
8g.41933238_41933240delCA4729381KAT6Ac.4989_4991del (p.Pro1664del)
c.4995_4997del (p.Pro1666del)
c.3670_3672del
c.5121_5123del (p.Pro1708del)
c.5100_5102del (p.Pro1701del)
c.5007_5009del (p.Pro1670del)
c.3561_3563del (p.Pro1188del)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.41933235_41933240delCA581928331KAT6Ac.4986_4991del (p.Pro1663_Pro1664del)
c.4992_4997del (p.Pro1665_Pro1666del)
c.3667_3672del
c.5118_5123del (p.Pro1707_Pro1708del)
c.5097_5102del (p.Pro1700_Pro1701del)
c.5004_5009del (p.Pro1669_Pro1670del)
c.3558_3563del (p.Pro1187_Pro1188del)
dbSNP gnomAD v2 gnomAD v4
8g.41933230G>ACA371063896KAT6Ac.4990C>T (p.Pro1664Ser)
c.4996C>T (p.Pro1666Ser)
c.3671C>T
c.5122C>T (p.Pro1708Ser)
c.5101C>T (p.Pro1701Ser)
c.5008C>T (p.Pro1670Ser)
c.3562C>T (p.Pro1188Ser)
gnomAD v4
8g.41933230G>CCA4729382KAT6Ac.4990C>G (p.Pro1664Ala)
c.4996C>G (p.Pro1666Ala)
c.3671C>G
c.5122C>G (p.Pro1708Ala)
c.5101C>G (p.Pro1701Ala)
c.5008C>G (p.Pro1670Ala)
c.3562C>G (p.Pro1188Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933230G=CA1779195829KAT6Ac.4990C= (p.Pro1664=)
c.4996C= (p.Pro1666=)
c.3671C=
c.5122C= (p.Pro1708=)
c.5101C= (p.Pro1701=)
c.5008C= (p.Pro1670=)
c.3562C= (p.Pro1188=)
8g.41933230G>TCA371063897KAT6Ac.4990C>A (p.Pro1664Thr)
c.4996C>A (p.Pro1666Thr)
c.3671C>A
c.5122C>A (p.Pro1708Thr)
c.5101C>A (p.Pro1701Thr)
c.5008C>A (p.Pro1670Thr)
c.3562C>A (p.Pro1188Thr)
gnomAD v4
8g.41933231C>ACA460783709KAT6Ac.4989G>T (p.Pro1663=)
c.4995G>T (p.Pro1665=)
c.3670G>T
c.5121G>T (p.Pro1707=)
c.5100G>T (p.Pro1700=)
c.5007G>T (p.Pro1669=)
c.3561G>T (p.Pro1187=)
gnomAD v4
8g.41933231C=CA1779195830KAT6Ac.4989G= (p.Pro1663=)
c.4995G= (p.Pro1665=)
c.3670G=
c.5121G= (p.Pro1707=)
c.5100G= (p.Pro1700=)
c.5007G= (p.Pro1669=)
c.3561G= (p.Pro1187=)
8g.41933231C>GCA460783713KAT6Ac.4989G>C (p.Pro1663=)
c.4995G>C (p.Pro1665=)
c.3670G>C
c.5121G>C (p.Pro1707=)
c.5100G>C (p.Pro1700=)
c.5007G>C (p.Pro1669=)
c.3561G>C (p.Pro1187=)
8g.41933231C>TCA4729383KAT6Ac.4989G>A (p.Pro1663=)
c.4995G>A (p.Pro1665=)
c.3670G>A
c.5121G>A (p.Pro1707=)
c.5100G>A (p.Pro1700=)
c.5007G>A (p.Pro1669=)
c.3561G>A (p.Pro1187=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933231_41933255delinsCGGCGGCGGCTGTGGCTGCTGTGGACA1779195831KAT6Ac.4965_4989delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1655=)
c.4971_4995delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1657=)
c.3646_3670delinsTCCACAGCAGCCACAGCCGCCGCCG
c.5097_5121delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1699=)
c.5076_5100delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1692=)
c.4983_5007delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1661=)
c.3537_3561delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1179=)
8g.41933232G>ACA4729384KAT6Ac.4988C>T (p.Pro1663Leu)
c.4994C>T (p.Pro1665Leu)
c.3669C>T
c.5120C>T (p.Pro1707Leu)
c.5099C>T (p.Pro1700Leu)
c.5006C>T (p.Pro1669Leu)
c.3560C>T (p.Pro1187Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933232G>CCA371063898KAT6Ac.4988C>G (p.Pro1663Arg)
c.4994C>G (p.Pro1665Arg)
c.3669C>G
c.5120C>G (p.Pro1707Arg)
c.5099C>G (p.Pro1700Arg)
c.5006C>G (p.Pro1669Arg)
c.3560C>G (p.Pro1187Arg)
8g.41933232G=CA1779195833KAT6Ac.4988C= (p.Pro1663=)
c.4994C= (p.Pro1665=)
c.3669C=
c.5120C= (p.Pro1707=)
c.5099C= (p.Pro1700=)
c.5006C= (p.Pro1669=)
c.3560C= (p.Pro1187=)
8g.41933232G>TCA371063899KAT6Ac.4988C>A (p.Pro1663Gln)
c.4994C>A (p.Pro1665Gln)
c.3669C>A
c.5120C>A (p.Pro1707Gln)
c.5099C>A (p.Pro1700Gln)
c.5006C>A (p.Pro1669Gln)
c.3560C>A (p.Pro1187Gln)
8g.41933237_41933260delCA1779195832KAT6Ac.4965_4988del (p.Pro1656_Pro1663del)
c.4971_4994del (p.Pro1658_Pro1665del)
c.3646_3669del
c.5097_5120del (p.Pro1700_Pro1707del)
c.5076_5099del (p.Pro1693_Pro1700del)
c.4983_5006del (p.Pro1662_Pro1669del)
c.3537_3560del (p.Pro1180_Pro1187del)
dbSNP gnomAD v4
8g.41933233G>ACA371063900KAT6Ac.4987C>T (p.Pro1663Ser)
c.4993C>T (p.Pro1665Ser)
c.3668C>T
c.5119C>T (p.Pro1707Ser)
c.5098C>T (p.Pro1700Ser)
c.5005C>T (p.Pro1669Ser)
c.3559C>T (p.Pro1187Ser)
gnomAD v4
8g.41933233G>CCA371063903KAT6Ac.4987C>G (p.Pro1663Ala)
c.4993C>G (p.Pro1665Ala)
c.3668C>G
c.5119C>G (p.Pro1707Ala)
c.5098C>G (p.Pro1700Ala)
c.5005C>G (p.Pro1669Ala)
c.3559C>G (p.Pro1187Ala)
8g.41933233G>TCA371063901KAT6Ac.4987C>A (p.Pro1663Thr)
c.4993C>A (p.Pro1665Thr)
c.3668C>A
c.5119C>A (p.Pro1707Thr)
c.5098C>A (p.Pro1700Thr)
c.5005C>A (p.Pro1669Thr)
c.3559C>A (p.Pro1187Thr)
gnomAD v4
8g.41933235_41933249dupCA581928332KAT6Ac.4973_4987dup (p.Pro1662_Pro1663insGlnProGlnProPro)
c.4979_4993dup (p.Pro1664_Pro1665insGlnProGlnProPro)
c.3654_3668dup
c.5105_5119dup (p.Pro1706_Pro1707insGlnProGlnProPro)
c.5084_5098dup (p.Pro1699_Pro1700insGlnProGlnProPro)
c.4991_5005dup (p.Pro1668_Pro1669insGlnProGlnProPro)
c.3545_3559dup (p.Pro1186_Pro1187insGlnProGlnProPro)
dbSNP gnomAD v2 gnomAD v4
8g.41933234C>ACA460783719KAT6Ac.4986G>T (p.Pro1662=)
c.4992G>T (p.Pro1664=)
c.3667G>T
c.5118G>T (p.Pro1706=)
c.5097G>T (p.Pro1699=)
c.5004G>T (p.Pro1668=)
c.3558G>T (p.Pro1186=)
8g.41933234C=CA1779195834KAT6Ac.4986G= (p.Pro1662=)
c.4992G= (p.Pro1664=)
c.3667G=
c.5118G= (p.Pro1706=)
c.5097G= (p.Pro1699=)
c.5004G= (p.Pro1668=)
c.3558G= (p.Pro1186=)
8g.41933234C>GCA4729385KAT6Ac.4986G>C (p.Pro1662=)
c.4992G>C (p.Pro1664=)
c.3667G>C
c.5118G>C (p.Pro1706=)
c.5097G>C (p.Pro1699=)
c.5004G>C (p.Pro1668=)
c.3558G>C (p.Pro1186=)
dbSNP ExAC gnomAD v2
8g.41933234C>TCA4729386KAT6Ac.4986G>A (p.Pro1662=)
c.4992G>A (p.Pro1664=)
c.3667G>A
c.5118G>A (p.Pro1706=)
c.5097G>A (p.Pro1699=)
c.5004G>A (p.Pro1668=)
c.3558G>A (p.Pro1186=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933234_41933255delinsCGGCGGCTGTGGCTGCTGTGGACA1779195835KAT6Ac.4965_4986delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1655=)
c.4971_4992delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1657=)
c.3646_3667delinsTCCACAGCAGCCACAGCCGCCG
c.5097_5118delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1699=)
c.5076_5097delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1692=)
c.4983_5004delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1661=)
c.3537_3558delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1179=)
8g.41933235G>ACA4729387KAT6Ac.4985C>T (p.Pro1662Leu)
c.4991C>T (p.Pro1664Leu)
c.3666C>T
c.5117C>T (p.Pro1706Leu)
c.5096C>T (p.Pro1699Leu)
c.5003C>T (p.Pro1668Leu)
c.3557C>T (p.Pro1186Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.41933235G>CCA371063911KAT6Ac.4985C>G (p.Pro1662Arg)
c.4991C>G (p.Pro1664Arg)
c.3666C>G
c.5117C>G (p.Pro1706Arg)
c.5096C>G (p.Pro1699Arg)
c.5003C>G (p.Pro1668Arg)
c.3557C>G (p.Pro1186Arg)
8g.41933235G=CA1779195836KAT6Ac.4985C= (p.Pro1662=)
c.4991C= (p.Pro1664=)
c.3666C=
c.5117C= (p.Pro1706=)
c.5096C= (p.Pro1699=)
c.5003C= (p.Pro1668=)
c.3557C= (p.Pro1186=)
8g.41933235G>TCA4729388KAT6Ac.4985C>A (p.Pro1662Gln)
c.4991C>A (p.Pro1664Gln)
c.3666C>A
c.5117C>A (p.Pro1706Gln)
c.5096C>A (p.Pro1699Gln)
c.5003C>A (p.Pro1668Gln)
c.3557C>A (p.Pro1186Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933238_41933246dupCA915945664KAT6Ac.4977_4985dup (p.Pro1662_Pro1663insGlnProPro)
c.4983_4991dup (p.Pro1664_Pro1665insGlnProPro)
c.3658_3666dup
c.5109_5117dup (p.Pro1706_Pro1707insGlnProPro)
c.5088_5096dup (p.Pro1699_Pro1700insGlnProPro)
c.4995_5003dup (p.Pro1668_Pro1669insGlnProPro)
c.3549_3557dup (p.Pro1186_Pro1187insGlnProPro)
ClinVar dbSNP
8g.41933240_41933260delCA581928333KAT6Ac.4965_4985del (p.Pro1656_Pro1662del)
c.4971_4991del (p.Pro1658_Pro1664del)
c.3646_3666del
c.5097_5117del (p.Pro1700_Pro1706del)
c.5076_5096del (p.Pro1693_Pro1699del)
c.4983_5003del (p.Pro1662_Pro1668del)
c.3537_3557del (p.Pro1180_Pro1186del)
dbSNP gnomAD v2
8g.41933243_41933272delCA2687076951KAT6Ac.4956_4985del (p.Pro1653_Pro1662del)
c.4962_4991del (p.Pro1655_Pro1664del)
c.3637_3666del
c.5088_5117del (p.Pro1697_Pro1706del)
c.5067_5096del (p.Pro1690_Pro1699del)
c.4974_5003del (p.Pro1659_Pro1668del)
c.3528_3557del (p.Pro1177_Pro1186del)
gnomAD v4
8g.41933236G>ACA371063915KAT6Ac.4984C>T (p.Pro1662Ser)
c.4990C>T (p.Pro1664Ser)
c.3665C>T
c.5116C>T (p.Pro1706Ser)
c.5095C>T (p.Pro1699Ser)
c.5002C>T (p.Pro1668Ser)
c.3556C>T (p.Pro1186Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.41933236G>CCA371063916KAT6Ac.4984C>G (p.Pro1662Ala)
c.4990C>G (p.Pro1664Ala)
c.3665C>G
c.5116C>G (p.Pro1706Ala)
c.5095C>G (p.Pro1699Ala)
c.5002C>G (p.Pro1668Ala)
c.3556C>G (p.Pro1186Ala)
8g.41933236G=CA1779195837KAT6Ac.4984C= (p.Pro1662=)
c.4990C= (p.Pro1664=)
c.3665C=
c.5116C= (p.Pro1706=)
c.5095C= (p.Pro1699=)
c.5002C= (p.Pro1668=)
c.3556C= (p.Pro1186=)
8g.41933236G>TCA371063919KAT6Ac.4984C>A (p.Pro1662Thr)
c.4990C>A (p.Pro1664Thr)
c.3665C>A
c.5116C>A (p.Pro1706Thr)
c.5095C>A (p.Pro1699Thr)
c.5002C>A (p.Pro1668Thr)
c.3556C>A (p.Pro1186Thr)
gnomAD v4
8g.41933237C>ACA460783727KAT6Ac.4983G>T (p.Pro1661=)
c.4989G>T (p.Pro1663=)
c.3664G>T
c.5115G>T (p.Pro1705=)
c.5094G>T (p.Pro1698=)
c.5001G>T (p.Pro1667=)
c.3555G>T (p.Pro1185=)
gnomAD v4 COSMIC
8g.41933237C=CA1779195838KAT6Ac.4983G= (p.Pro1661=)
c.4989G= (p.Pro1663=)
c.3664G=
c.5115G= (p.Pro1705=)
c.5094G= (p.Pro1698=)
c.5001G= (p.Pro1667=)
c.3555G= (p.Pro1185=)
8g.41933237C>GCA4729390KAT6Ac.4983G>C (p.Pro1661=)
c.4989G>C (p.Pro1663=)
c.3664G>C
c.5115G>C (p.Pro1705=)
c.5094G>C (p.Pro1698=)
c.5001G>C (p.Pro1667=)
c.3555G>C (p.Pro1185=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933237C>TCA460783730KAT6Ac.4983G>A (p.Pro1661=)
c.4989G>A (p.Pro1663=)
c.3664G>A
c.5115G>A (p.Pro1705=)
c.5094G>A (p.Pro1698=)
c.5001G>A (p.Pro1667=)
c.3555G>A (p.Pro1185=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41933238G>ACA4729391KAT6Ac.4982C>T (p.Pro1661Leu)
c.4988C>T (p.Pro1663Leu)
c.3663C>T
c.5114C>T (p.Pro1705Leu)
c.5093C>T (p.Pro1698Leu)
c.5000C>T (p.Pro1667Leu)
c.3554C>T (p.Pro1185Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933238G>CCA371063927KAT6Ac.4982C>G (p.Pro1661Arg)
c.4988C>G (p.Pro1663Arg)
c.3663C>G
c.5114C>G (p.Pro1705Arg)
c.5093C>G (p.Pro1698Arg)
c.5000C>G (p.Pro1667Arg)
c.3554C>G (p.Pro1185Arg)
8g.41933238G=CA1779195839KAT6Ac.4982C= (p.Pro1661=)
c.4988C= (p.Pro1663=)
c.3663C=
c.5114C= (p.Pro1705=)
c.5093C= (p.Pro1698=)
c.5000C= (p.Pro1667=)
c.3554C= (p.Pro1185=)
8g.41933238G>TCA371063929KAT6Ac.4982C>A (p.Pro1661Gln)
c.4988C>A (p.Pro1663Gln)
c.3663C>A
c.5114C>A (p.Pro1705Gln)
c.5093C>A (p.Pro1698Gln)
c.5000C>A (p.Pro1667Gln)
c.3554C>A (p.Pro1185Gln)
gnomAD v4
8g.41933243_41933248dupCA2687076953KAT6Ac.4977_4982dup (p.Pro1661_Pro1662insGlnPro)
c.4983_4988dup (p.Pro1663_Pro1664insGlnPro)
c.3658_3663dup
c.5109_5114dup (p.Pro1705_Pro1706insGlnPro)
c.5088_5093dup (p.Pro1698_Pro1699insGlnPro)
c.4995_5000dup (p.Pro1667_Pro1668insGlnPro)
c.3549_3554dup (p.Pro1185_Pro1186insGlnPro)
gnomAD v4
8g.41933240_41933254dupCA4729389KAT6Ac.4968_4982dup (p.Pro1661_Pro1662insGlnGlnProGlnPro)
c.4974_4988dup (p.Pro1663_Pro1664insGlnGlnProGlnPro)
c.3649_3663dup
c.5100_5114dup (p.Pro1705_Pro1706insGlnGlnProGlnPro)
c.5079_5093dup (p.Pro1698_Pro1699insGlnGlnProGlnPro)
c.4986_5000dup (p.Pro1667_Pro1668insGlnGlnProGlnPro)
c.3540_3554dup (p.Pro1185_Pro1186insGlnGlnProGlnPro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933239G>ACA371063937KAT6Ac.4981C>T (p.Pro1661Ser)
c.4987C>T (p.Pro1663Ser)
c.3662C>T
c.5113C>T (p.Pro1705Ser)
c.5092C>T (p.Pro1698Ser)
c.4999C>T (p.Pro1667Ser)
c.3553C>T (p.Pro1185Ser)
gnomAD v4
8g.41933239G>CCA371063932KAT6Ac.4981C>G (p.Pro1661Ala)
c.4987C>G (p.Pro1663Ala)
c.3662C>G
c.5113C>G (p.Pro1705Ala)
c.5092C>G (p.Pro1698Ala)
c.4999C>G (p.Pro1667Ala)
c.3553C>G (p.Pro1185Ala)
8g.41933239G>TCA371063935KAT6Ac.4981C>A (p.Pro1661Thr)
c.4987C>A (p.Pro1663Thr)
c.3662C>A
c.5113C>A (p.Pro1705Thr)
c.5092C>A (p.Pro1698Thr)
c.4999C>A (p.Pro1667Thr)
c.3553C>A (p.Pro1185Thr)
gnomAD v4
8g.41933240_41933242delCA2687076954KAT6Ac.4979_4981del (p.Gln1660del)
c.4985_4987del (p.Gln1662del)
c.3660_3662del
c.5111_5113del (p.Gln1704del)
c.5090_5092del (p.Gln1697del)
c.4997_4999del (p.Gln1666del)
c.3551_3553del (p.Gln1184del)
gnomAD v4
8g.41933246_41933254dupCA4729392KAT6Ac.4973_4981dup (p.Gln1660_Pro1661insGlnProGln)
c.4979_4987dup (p.Gln1662_Pro1663insGlnProGln)
c.3654_3662dup
c.5105_5113dup (p.Gln1704_Pro1705insGlnProGln)
c.5084_5092dup (p.Gln1697_Pro1698insGlnProGln)
c.4991_4999dup (p.Gln1666_Pro1667insGlnProGln)
c.3545_3553dup (p.Gln1184_Pro1185insGlnProGln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933246_41933254delCA2687076955KAT6Ac.4973_4981del (p.Gln1658_Gln1660del)
c.4979_4987del (p.Gln1660_Gln1662del)
c.3654_3662del
c.5105_5113del (p.Gln1702_Gln1704del)
c.5084_5092del (p.Gln1695_Gln1697del)
c.4991_4999del (p.Gln1664_Gln1666del)
c.3545_3553del (p.Gln1182_Gln1184del)
gnomAD v4
8g.41933240delCA2740095014KAT6Ac.4980del (p.Gln1660HisfsTer?)
c.4986del (p.Gln1662HisfsTer?)
c.3661del
c.5112del (p.Gln1704HisfsTer?)
c.5091del (p.Gln1697HisfsTer?)
c.4998del (p.Gln1666HisfsTer?)
c.3552del (p.Gln1184HisfsTer?)
ClinVar
8g.41933240C>ACA371063941KAT6Ac.4980G>T (p.Gln1660His)
c.4986G>T (p.Gln1662His)
c.3661G>T
c.5112G>T (p.Gln1704His)
c.5091G>T (p.Gln1697His)
c.4998G>T (p.Gln1666His)
c.3552G>T (p.Gln1184His)
gnomAD v4
8g.41933240C>GCA371063943KAT6Ac.4980G>C (p.Gln1660His)
c.4986G>C (p.Gln1662His)
c.3661G>C
c.5112G>C (p.Gln1704His)
c.5091G>C (p.Gln1697His)
c.4998G>C (p.Gln1666His)
c.3552G>C (p.Gln1184His)
dbSNP
8g.41933240C>TCA460783737KAT6Ac.4980G>A (p.Gln1660=)
c.4986G>A (p.Gln1662=)
c.3661G>A
c.5112G>A (p.Gln1704=)
c.5091G>A (p.Gln1697=)
c.4998G>A (p.Gln1666=)
c.3552G>A (p.Gln1184=)
gnomAD v4
8g.41933240_41933261delinsCTGTGGCTGCTGTGGAGGCGGTCA1779195840KAT6Ac.4959_4980delinsACCGCCTCCACAGCAGCCACAG (p.Pro1653=)
c.4965_4986delinsACCGCCTCCACAGCAGCCACAG (p.Pro1655=)
c.3640_3661delinsACCGCCTCCACAGCAGCCACAG
c.5091_5112delinsACCGCCTCCACAGCAGCCACAG (p.Pro1697=)
c.5070_5091delinsACCGCCTCCACAGCAGCCACAG (p.Pro1690=)
c.4977_4998delinsACCGCCTCCACAGCAGCCACAG (p.Pro1659=)
c.3531_3552delinsACCGCCTCCACAGCAGCCACAG (p.Pro1177=)
8g.41933241T>ACA371063945KAT6Ac.4979A>T (p.Gln1660Leu)
c.4985A>T (p.Gln1662Leu)
c.3660A>T
c.5111A>T (p.Gln1704Leu)
c.5090A>T (p.Gln1697Leu)
c.4997A>T (p.Gln1666Leu)
c.3551A>T (p.Gln1184Leu)
ClinVar gnomAD v4
8g.41933241T>CCA371063947KAT6Ac.4979A>G (p.Gln1660Arg)
c.4985A>G (p.Gln1662Arg)
c.3660A>G
c.5111A>G (p.Gln1704Arg)
c.5090A>G (p.Gln1697Arg)
c.4997A>G (p.Gln1666Arg)
c.3551A>G (p.Gln1184Arg)
gnomAD v4
8g.41933241T>GCA371063949KAT6Ac.4979A>C (p.Gln1660Pro)
c.4985A>C (p.Gln1662Pro)
c.3660A>C
c.5111A>C (p.Gln1704Pro)
c.5090A>C (p.Gln1697Pro)
c.4997A>C (p.Gln1666Pro)
c.3551A>C (p.Gln1184Pro)
8g.41933241_41933261delCA1779195841KAT6Ac.4959_4979del (p.Pro1654_Gln1660del)
c.4965_4985del (p.Pro1656_Gln1662del)
c.3640_3660del
c.5091_5111del (p.Pro1698_Gln1704del)
c.5070_5090del (p.Pro1691_Gln1697del)
c.4977_4997del (p.Pro1660_Gln1666del)
c.3531_3551del (p.Pro1178_Gln1184del)
dbSNP
8g.41933242G>ACA371063952KAT6Ac.4978C>T (p.Gln1660Ter)
c.4984C>T (p.Gln1662Ter)
c.3659C>T
c.5110C>T (p.Gln1704Ter)
c.5089C>T (p.Gln1697Ter)
c.4996C>T (p.Gln1666Ter)
c.3550C>T (p.Gln1184Ter)
gnomAD v4
8g.41933242G>CCA371063954KAT6Ac.4978C>G (p.Gln1660Glu)
c.4984C>G (p.Gln1662Glu)
c.3659C>G
c.5110C>G (p.Gln1704Glu)
c.5089C>G (p.Gln1697Glu)
c.4996C>G (p.Gln1666Glu)
c.3550C>G (p.Gln1184Glu)
8g.41933242G>TCA371063956KAT6Ac.4978C>A (p.Gln1660Lys)
c.4984C>A (p.Gln1662Lys)
c.3659C>A
c.5110C>A (p.Gln1704Lys)
c.5089C>A (p.Gln1697Lys)
c.4996C>A (p.Gln1666Lys)
c.3550C>A (p.Gln1184Lys)
gnomAD v4
8g.41933243T>ACA460783743KAT6Ac.4977A>T (p.Pro1659=)
c.4983A>T (p.Pro1661=)
c.3658A>T
c.5109A>T (p.Pro1703=)
c.5088A>T (p.Pro1696=)
c.4995A>T (p.Pro1665=)
c.3549A>T (p.Pro1183=)
8g.41933243T>CCA175938944KAT6Ac.4977A>G (p.Pro1659=)
c.4983A>G (p.Pro1661=)
c.3658A>G
c.5109A>G (p.Pro1703=)
c.5088A>G (p.Pro1696=)
c.4995A>G (p.Pro1665=)
c.3549A>G (p.Pro1183=)
dbSNP gnomAD v3 gnomAD v4
8g.41933243T>GCA460783745KAT6Ac.4977A>C (p.Pro1659=)
c.4983A>C (p.Pro1661=)
c.3658A>C
c.5109A>C (p.Pro1703=)
c.5088A>C (p.Pro1696=)
c.4995A>C (p.Pro1665=)
c.3549A>C (p.Pro1183=)
8g.41933243T=CA1779195843KAT6Ac.4977A= (p.Pro1659=)
c.4983A= (p.Pro1661=)
c.3658A=
c.5109A= (p.Pro1703=)
c.5088A= (p.Pro1696=)
c.4995A= (p.Pro1665=)
c.3549A= (p.Pro1183=)
8g.41933243_41933267delinsTGGCTGCTGTGGAGGCGGTGGTGGCCA1779195842KAT6Ac.4953_4977delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1651=)
c.4959_4983delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1653=)
c.3634_3658delinsGCCACCACCGCCTCCACAGCAGCCA
c.5085_5109delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1695=)
c.5064_5088delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1688=)
c.4971_4995delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1657=)
c.3525_3549delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1175=)
8g.41933244G>ACA371063961KAT6Ac.4976C>T (p.Pro1659Leu)
c.4982C>T (p.Pro1661Leu)
c.3657C>T
c.5108C>T (p.Pro1703Leu)
c.5087C>T (p.Pro1696Leu)
c.4994C>T (p.Pro1665Leu)
c.3548C>T (p.Pro1183Leu)
8g.41933244G>CCA371063962KAT6Ac.4976C>G (p.Pro1659Arg)
c.4982C>G (p.Pro1661Arg)
c.3657C>G
c.5108C>G (p.Pro1703Arg)
c.5087C>G (p.Pro1696Arg)
c.4994C>G (p.Pro1665Arg)
c.3548C>G (p.Pro1183Arg)
8g.41933244G>TCA371063963KAT6Ac.4976C>A (p.Pro1659Gln)
c.4982C>A (p.Pro1661Gln)
c.3657C>A
c.5108C>A (p.Pro1703Gln)
c.5087C>A (p.Pro1696Gln)
c.4994C>A (p.Pro1665Gln)
c.3548C>A (p.Pro1183Gln)
gnomAD v4
8g.41933252_41933275delCA4729393KAT6Ac.4953_4976del (p.Pro1652_Pro1659del)
c.4959_4982del (p.Pro1654_Pro1661del)
c.3634_3657del
c.5085_5108del (p.Pro1696_Pro1703del)
c.5064_5087del (p.Pro1689_Pro1696del)
c.4971_4994del (p.Pro1658_Pro1665del)
c.3525_3548del (p.Pro1176_Pro1183del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933245G>ACA371063969KAT6Ac.4975C>T (p.Pro1659Ser)
c.4981C>T (p.Pro1661Ser)
c.3656C>T
c.5107C>T (p.Pro1703Ser)
c.5086C>T (p.Pro1696Ser)
c.4993C>T (p.Pro1665Ser)
c.3547C>T (p.Pro1183Ser)
gnomAD v4
8g.41933245G>CCA371063970KAT6Ac.4975C>G (p.Pro1659Ala)
c.4981C>G (p.Pro1661Ala)
c.3656C>G
c.5107C>G (p.Pro1703Ala)
c.5086C>G (p.Pro1696Ala)
c.4993C>G (p.Pro1665Ala)
c.3547C>G (p.Pro1183Ala)
8g.41933245G>TCA371063973KAT6Ac.4975C>A (p.Pro1659Thr)
c.4981C>A (p.Pro1661Thr)
c.3656C>A
c.5107C>A (p.Pro1703Thr)
c.5086C>A (p.Pro1696Thr)
c.4993C>A (p.Pro1665Thr)
c.3547C>A (p.Pro1183Thr)
gnomAD v4
8g.41933246C>ACA371063975KAT6Ac.4974G>T (p.Gln1658His)
c.4980G>T (p.Gln1660His)
c.3655G>T
c.5106G>T (p.Gln1702His)
c.5085G>T (p.Gln1695His)
c.4992G>T (p.Gln1664His)
c.3546G>T (p.Gln1182His)
8g.41933246C=CA1779195844KAT6Ac.4974G= (p.Gln1658=)
c.4980G= (p.Gln1660=)
c.3655G=
c.5106G= (p.Gln1702=)
c.5085G= (p.Gln1695=)
c.4992G= (p.Gln1664=)
c.3546G= (p.Gln1182=)
8g.41933246C>GCA371063978KAT6Ac.4974G>C (p.Gln1658His)
c.4980G>C (p.Gln1660His)
c.3655G>C
c.5106G>C (p.Gln1702His)
c.5085G>C (p.Gln1695His)
c.4992G>C (p.Gln1664His)
c.3546G>C (p.Gln1182His)
8g.41933246C>TCA4729394KAT6Ac.4974G>A (p.Gln1658=)
c.4980G>A (p.Gln1660=)
c.3655G>A
c.5106G>A (p.Gln1702=)
c.5085G>A (p.Gln1695=)
c.4992G>A (p.Gln1664=)
c.3546G>A (p.Gln1182=)
dbSNP ExAC gnomAD v2
8g.41933247T>ACA371063984KAT6Ac.4973A>T (p.Gln1658Leu)
c.4979A>T (p.Gln1660Leu)
c.3654A>T
c.5105A>T (p.Gln1702Leu)
c.5084A>T (p.Gln1695Leu)
c.4991A>T (p.Gln1664Leu)
c.3545A>T (p.Gln1182Leu)
8g.41933247T>CCA371063987KAT6Ac.4973A>G (p.Gln1658Arg)
c.4979A>G (p.Gln1660Arg)
c.3654A>G
c.5105A>G (p.Gln1702Arg)
c.5084A>G (p.Gln1695Arg)
c.4991A>G (p.Gln1664Arg)
c.3545A>G (p.Gln1182Arg)
gnomAD v4
8g.41933247T>GCA371063989KAT6Ac.4973A>C (p.Gln1658Pro)
c.4979A>C (p.Gln1660Pro)
c.3654A>C
c.5105A>C (p.Gln1702Pro)
c.5084A>C (p.Gln1695Pro)
c.4991A>C (p.Gln1664Pro)
c.3545A>C (p.Gln1182Pro)
dbSNP
8g.41933247T=CA1779195845KAT6Ac.4973A= (p.Gln1658=)
c.4979A= (p.Gln1660=)
c.3654A=
c.5105A= (p.Gln1702=)
c.5084A= (p.Gln1695=)
c.4991A= (p.Gln1664=)
c.3545A= (p.Gln1182=)
8g.41933248G>ACA371063991KAT6Ac.4972C>T (p.Gln1658Ter)
c.4978C>T (p.Gln1660Ter)
c.3653C>T
c.5104C>T (p.Gln1702Ter)
c.5083C>T (p.Gln1695Ter)
c.4990C>T (p.Gln1664Ter)
c.3544C>T (p.Gln1182Ter)
gnomAD v4
8g.41933248G>CCA371063993KAT6Ac.4972C>G (p.Gln1658Glu)
c.4978C>G (p.Gln1660Glu)
c.3653C>G
c.5104C>G (p.Gln1702Glu)
c.5083C>G (p.Gln1695Glu)
c.4990C>G (p.Gln1664Glu)
c.3544C>G (p.Gln1182Glu)
8g.41933248G>TCA371063996KAT6Ac.4972C>A (p.Gln1658Lys)
c.4978C>A (p.Gln1660Lys)
c.3653C>A
c.5104C>A (p.Gln1702Lys)
c.5083C>A (p.Gln1695Lys)
c.4990C>A (p.Gln1664Lys)
c.3544C>A (p.Gln1182Lys)
gnomAD v4
8g.41933249C>ACA371063998KAT6Ac.4971G>T (p.Gln1657His)
c.4977G>T (p.Gln1659His)
c.3652G>T
c.5103G>T (p.Gln1701His)
c.5082G>T (p.Gln1694His)
c.4989G>T (p.Gln1663His)
c.3543G>T (p.Gln1181His)
gnomAD v4
8g.41933249C>GCA371064000KAT6Ac.4971G>C (p.Gln1657His)
c.4977G>C (p.Gln1659His)
c.3652G>C
c.5103G>C (p.Gln1701His)
c.5082G>C (p.Gln1694His)
c.4989G>C (p.Gln1663His)
c.3543G>C (p.Gln1181His)
8g.41933249C>TCA460783361KAT6Ac.4971G>A (p.Gln1657=)
c.4977G>A (p.Gln1659=)
c.3652G>A
c.5103G>A (p.Gln1701=)
c.5082G>A (p.Gln1694=)
c.4989G>A (p.Gln1663=)
c.3543G>A (p.Gln1181=)
gnomAD v4
8g.41933250T>ACA371064007KAT6Ac.4970A>T (p.Gln1657Leu)
c.4976A>T (p.Gln1659Leu)
c.3651A>T
c.5102A>T (p.Gln1701Leu)
c.5081A>T (p.Gln1694Leu)
c.4988A>T (p.Gln1663Leu)
c.3542A>T (p.Gln1181Leu)
8g.41933250T>CCA371064003KAT6Ac.4970A>G (p.Gln1657Arg)
c.4976A>G (p.Gln1659Arg)
c.3651A>G
c.5102A>G (p.Gln1701Arg)
c.5081A>G (p.Gln1694Arg)
c.4988A>G (p.Gln1663Arg)
c.3542A>G (p.Gln1181Arg)
gnomAD v4
8g.41933250T>GCA371064005KAT6Ac.4970A>C (p.Gln1657Pro)
c.4976A>C (p.Gln1659Pro)
c.3651A>C
c.5102A>C (p.Gln1701Pro)
c.5081A>C (p.Gln1694Pro)
c.4988A>C (p.Gln1663Pro)
c.3542A>C (p.Gln1181Pro)
8g.41933251G>ACA371064009KAT6Ac.4969C>T (p.Gln1657Ter)
c.4975C>T (p.Gln1659Ter)
c.3650C>T
c.5101C>T (p.Gln1701Ter)
c.5080C>T (p.Gln1694Ter)
c.4987C>T (p.Gln1663Ter)
c.3541C>T (p.Gln1181Ter)
gnomAD v4
8g.41933251G>CCA371064010KAT6Ac.4969C>G (p.Gln1657Glu)
c.4975C>G (p.Gln1659Glu)
c.3650C>G
c.5101C>G (p.Gln1701Glu)
c.5080C>G (p.Gln1694Glu)
c.4987C>G (p.Gln1663Glu)
c.3541C>G (p.Gln1181Glu)
gnomAD v4
8g.41933251G>TCA371064013KAT6Ac.4969C>A (p.Gln1657Lys)
c.4975C>A (p.Gln1659Lys)
c.3650C>A
c.5101C>A (p.Gln1701Lys)
c.5080C>A (p.Gln1694Lys)
c.4987C>A (p.Gln1663Lys)
c.3541C>A (p.Gln1181Lys)
gnomAD v4
8g.41933252T>ACA460783366KAT6Ac.4968A>T (p.Pro1656=)
c.4974A>T (p.Pro1658=)
c.3649A>T
c.5100A>T (p.Pro1700=)
c.5079A>T (p.Pro1693=)
c.4986A>T (p.Pro1662=)
c.3540A>T (p.Pro1180=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41933252T>CCA460783369KAT6Ac.4968A>G (p.Pro1656=)
c.4974A>G (p.Pro1658=)
c.3649A>G
c.5100A>G (p.Pro1700=)
c.5079A>G (p.Pro1693=)
c.4986A>G (p.Pro1662=)
c.3540A>G (p.Pro1180=)
dbSNP gnomAD v4
8g.41933252T>GCA460783370KAT6Ac.4968A>C (p.Pro1656=)
c.4974A>C (p.Pro1658=)
c.3649A>C
c.5100A>C (p.Pro1700=)
c.5079A>C (p.Pro1693=)
c.4986A>C (p.Pro1662=)
c.3540A>C (p.Pro1180=)
8g.41933252T=CA1779195846KAT6Ac.4968A= (p.Pro1656=)
c.4974A= (p.Pro1658=)
c.3649A=
c.5100A= (p.Pro1700=)
c.5079A= (p.Pro1693=)
c.4986A= (p.Pro1662=)
c.3540A= (p.Pro1180=)
8g.41933253G>ACA371064016KAT6Ac.4967C>T (p.Pro1656Leu)
c.4973C>T (p.Pro1658Leu)
c.3648C>T
c.5099C>T (p.Pro1700Leu)
c.5078C>T (p.Pro1693Leu)
c.4985C>T (p.Pro1662Leu)
c.3539C>T (p.Pro1180Leu)
8g.41933253G>CCA371064018KAT6Ac.4967C>G (p.Pro1656Arg)
c.4973C>G (p.Pro1658Arg)
c.3648C>G
c.5099C>G (p.Pro1700Arg)
c.5078C>G (p.Pro1693Arg)
c.4985C>G (p.Pro1662Arg)
c.3539C>G (p.Pro1180Arg)
8g.41933253G>TCA371064021KAT6Ac.4967C>A (p.Pro1656Gln)
c.4973C>A (p.Pro1658Gln)
c.3648C>A
c.5099C>A (p.Pro1700Gln)
c.5078C>A (p.Pro1693Gln)
c.4985C>A (p.Pro1662Gln)
c.3539C>A (p.Pro1180Gln)
dbSNP gnomAD v4
8g.41933254G>ACA4729395KAT6Ac.4966C>T (p.Pro1656Ser)
c.4972C>T (p.Pro1658Ser)
c.3647C>T
c.5098C>T (p.Pro1700Ser)
c.5077C>T (p.Pro1693Ser)
c.4984C>T (p.Pro1662Ser)
c.3538C>T (p.Pro1180Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933254G>CCA371064025KAT6Ac.4966C>G (p.Pro1656Ala)
c.4972C>G (p.Pro1658Ala)
c.3647C>G
c.5098C>G (p.Pro1700Ala)
c.5077C>G (p.Pro1693Ala)
c.4984C>G (p.Pro1662Ala)
c.3538C>G (p.Pro1180Ala)
8g.41933254G=CA1779195847KAT6Ac.4966C= (p.Pro1656=)
c.4972C= (p.Pro1658=)
c.3647C=
c.5098C= (p.Pro1700=)
c.5077C= (p.Pro1693=)
c.4984C= (p.Pro1662=)
c.3538C= (p.Pro1180=)
8g.41933254G>TCA371064027KAT6Ac.4966C>A (p.Pro1656Thr)
c.4972C>A (p.Pro1658Thr)
c.3647C>A
c.5098C>A (p.Pro1700Thr)
c.5077C>A (p.Pro1693Thr)
c.4984C>A (p.Pro1662Thr)
c.3538C>A (p.Pro1180Thr)
gnomAD v4
8g.41933255A>CCA460783372KAT6Ac.4965T>G (p.Pro1655=)
c.4971T>G (p.Pro1657=)
c.3646T>G
c.5097T>G (p.Pro1699=)
c.5076T>G (p.Pro1692=)
c.4983T>G (p.Pro1661=)
c.3537T>G (p.Pro1179=)
8g.41933255A>GCA460783373KAT6Ac.4965T>C (p.Pro1655=)
c.4971T>C (p.Pro1657=)
c.3646T>C
c.5097T>C (p.Pro1699=)
c.5076T>C (p.Pro1692=)
c.4983T>C (p.Pro1661=)
c.3537T>C (p.Pro1179=)
dbSNP gnomAD v4
8g.41933255A>TCA460783374KAT6Ac.4965T>A (p.Pro1655=)
c.4971T>A (p.Pro1657=)
c.3646T>A
c.5097T>A (p.Pro1699=)
c.5076T>A (p.Pro1692=)
c.4983T>A (p.Pro1661=)
c.3537T>A (p.Pro1179=)
8g.41933255_41933264delinsAGGCGGTGGTCA1779195848KAT6Ac.4956_4965delinsACCACCGCCT (p.Pro1652=)
c.4962_4971delinsACCACCGCCT (p.Pro1654=)
c.3637_3646delinsACCACCGCCT
c.5088_5097delinsACCACCGCCT (p.Pro1696=)
c.5067_5076delinsACCACCGCCT (p.Pro1689=)
c.4974_4983delinsACCACCGCCT (p.Pro1658=)
c.3528_3537delinsACCACCGCCT (p.Pro1176=)
8g.41933256G>ACA371064029KAT6Ac.4964C>T (p.Pro1655Leu)
c.4970C>T (p.Pro1657Leu)
c.3645C>T
c.5096C>T (p.Pro1699Leu)
c.5075C>T (p.Pro1692Leu)
c.4982C>T (p.Pro1661Leu)
c.3536C>T (p.Pro1179Leu)
gnomAD v4
8g.41933256G>CCA371064032KAT6Ac.4964C>G (p.Pro1655Arg)
c.4970C>G (p.Pro1657Arg)
c.3645C>G
c.5096C>G (p.Pro1699Arg)
c.5075C>G (p.Pro1692Arg)
c.4982C>G (p.Pro1661Arg)
c.3536C>G (p.Pro1179Arg)
8g.41933256G>TCA371064034KAT6Ac.4964C>A (p.Pro1655His)
c.4970C>A (p.Pro1657His)
c.3645C>A
c.5096C>A (p.Pro1699His)
c.5075C>A (p.Pro1692His)
c.4982C>A (p.Pro1661His)
c.3536C>A (p.Pro1179His)
gnomAD v4
8g.41933261_41933269delCA1113181450KAT6Ac.4956_4964del (p.Pro1653_Pro1655del)
c.4962_4970del (p.Pro1655_Pro1657del)
c.3637_3645del
c.5088_5096del (p.Pro1697_Pro1699del)
c.5067_5075del (p.Pro1690_Pro1692del)
c.4974_4982del (p.Pro1659_Pro1661del)
c.3528_3536del (p.Pro1177_Pro1179del)
dbSNP gnomAD v3 gnomAD v4
8g.41933257G>ACA371064040KAT6Ac.4963C>T (p.Pro1655Ser)
c.4969C>T (p.Pro1657Ser)
c.3644C>T
c.5095C>T (p.Pro1699Ser)
c.5074C>T (p.Pro1692Ser)
c.4981C>T (p.Pro1661Ser)
c.3535C>T (p.Pro1179Ser)
8g.41933257G>CCA175938962KAT6Ac.4963C>G (p.Pro1655Ala)
c.4969C>G (p.Pro1657Ala)
c.3644C>G
c.5095C>G (p.Pro1699Ala)
c.5074C>G (p.Pro1692Ala)
c.4981C>G (p.Pro1661Ala)
c.3535C>G (p.Pro1179Ala)
dbSNP
8g.41933257G=CA1779195849KAT6Ac.4963C= (p.Pro1655=)
c.4969C= (p.Pro1657=)
c.3644C=
c.5095C= (p.Pro1699=)
c.5074C= (p.Pro1692=)
c.4981C= (p.Pro1661=)
c.3535C= (p.Pro1179=)
8g.41933257G>TCA371064037KAT6Ac.4963C>A (p.Pro1655Thr)
c.4969C>A (p.Pro1657Thr)
c.3644C>A
c.5095C>A (p.Pro1699Thr)
c.5074C>A (p.Pro1692Thr)
c.4981C>A (p.Pro1661Thr)
c.3535C>A (p.Pro1179Thr)
8g.41933258C>ACA460783380KAT6Ac.4962G>T (p.Pro1654=)
c.4968G>T (p.Pro1656=)
c.3643G>T
c.5094G>T (p.Pro1698=)
c.5073G>T (p.Pro1691=)
c.4980G>T (p.Pro1660=)
c.3534G>T (p.Pro1178=)
gnomAD v4
8g.41933258C=CA1779195850KAT6Ac.4962G= (p.Pro1654=)
c.4968G= (p.Pro1656=)
c.3643G=
c.5094G= (p.Pro1698=)
c.5073G= (p.Pro1691=)
c.4980G= (p.Pro1660=)
c.3534G= (p.Pro1178=)
8g.41933258C>GCA460783381KAT6Ac.4962G>C (p.Pro1654=)
c.4968G>C (p.Pro1656=)
c.3643G>C
c.5094G>C (p.Pro1698=)
c.5073G>C (p.Pro1691=)
c.4980G>C (p.Pro1660=)
c.3534G>C (p.Pro1178=)
dbSNP
8g.41933258C>TCA175938965KAT6Ac.4962G>A (p.Pro1654=)
c.4968G>A (p.Pro1656=)
c.3643G>A
c.5094G>A (p.Pro1698=)
c.5073G>A (p.Pro1691=)
c.4980G>A (p.Pro1660=)
c.3534G>A (p.Pro1178=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41933259G>ACA4729396KAT6Ac.4961C>T (p.Pro1654Leu)
c.4967C>T (p.Pro1656Leu)
c.3642C>T
c.5093C>T (p.Pro1698Leu)
c.5072C>T (p.Pro1691Leu)
c.4979C>T (p.Pro1660Leu)
c.3533C>T (p.Pro1178Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933259G>CCA371064046KAT6Ac.4961C>G (p.Pro1654Arg)
c.4967C>G (p.Pro1656Arg)
c.3642C>G
c.5093C>G (p.Pro1698Arg)
c.5072C>G (p.Pro1691Arg)
c.4979C>G (p.Pro1660Arg)
c.3533C>G (p.Pro1178Arg)
dbSNP
8g.41933259G=CA1779195851KAT6Ac.4961C= (p.Pro1654=)
c.4967C= (p.Pro1656=)
c.3642C=
c.5093C= (p.Pro1698=)
c.5072C= (p.Pro1691=)
c.4979C= (p.Pro1660=)
c.3533C= (p.Pro1178=)
8g.41933259G>TCA175938974KAT6Ac.4961C>A (p.Pro1654Gln)
c.4967C>A (p.Pro1656Gln)
c.3642C>A
c.5093C>A (p.Pro1698Gln)
c.5072C>A (p.Pro1691Gln)
c.4979C>A (p.Pro1660Gln)
c.3533C>A (p.Pro1178Gln)
dbSNP gnomAD v4
8g.41933260G>ACA371064051KAT6Ac.4960C>T (p.Pro1654Ser)
c.4966C>T (p.Pro1656Ser)
c.3641C>T
c.5092C>T (p.Pro1698Ser)
c.5071C>T (p.Pro1691Ser)
c.4978C>T (p.Pro1660Ser)
c.3532C>T (p.Pro1178Ser)
dbSNP gnomAD v2 gnomAD v4
8g.41933260G>CCA371064054KAT6Ac.4960C>G (p.Pro1654Ala)
c.4966C>G (p.Pro1656Ala)
c.3641C>G
c.5092C>G (p.Pro1698Ala)
c.5071C>G (p.Pro1691Ala)
c.4978C>G (p.Pro1660Ala)
c.3532C>G (p.Pro1178Ala)
8g.41933260G=CA1779195852KAT6Ac.4960C= (p.Pro1654=)
c.4966C= (p.Pro1656=)
c.3641C=
c.5092C= (p.Pro1698=)
c.5071C= (p.Pro1691=)
c.4978C= (p.Pro1660=)
c.3532C= (p.Pro1178=)
8g.41933260G>TCA371064053KAT6Ac.4960C>A (p.Pro1654Thr)
c.4966C>A (p.Pro1656Thr)
c.3641C>A
c.5092C>A (p.Pro1698Thr)
c.5071C>A (p.Pro1691Thr)
c.4978C>A (p.Pro1660Thr)
c.3532C>A (p.Pro1178Thr)
ClinVar dbSNP gnomAD v4
8g.41933261T>ACA460783386KAT6Ac.4959A>T (p.Pro1653=)
c.4965A>T (p.Pro1655=)
c.3640A>T
c.5091A>T (p.Pro1697=)
c.5070A>T (p.Pro1690=)
c.4977A>T (p.Pro1659=)
c.3531A>T (p.Pro1177=)
8g.41933261T>CCA460783388KAT6Ac.4959A>G (p.Pro1653=)
c.4965A>G (p.Pro1655=)
c.3640A>G
c.5091A>G (p.Pro1697=)
c.5070A>G (p.Pro1690=)
c.4977A>G (p.Pro1659=)
c.3531A>G (p.Pro1177=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41933261T>GCA4729397KAT6Ac.4959A>C (p.Pro1653=)
c.4965A>C (p.Pro1655=)
c.3640A>C
c.5091A>C (p.Pro1697=)
c.5070A>C (p.Pro1690=)
c.4977A>C (p.Pro1659=)
c.3531A>C (p.Pro1177=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933261T=CA1779195853KAT6Ac.4959A= (p.Pro1653=)
c.4965A= (p.Pro1655=)
c.3640A=
c.5091A= (p.Pro1697=)
c.5070A= (p.Pro1690=)
c.4977A= (p.Pro1659=)
c.3531A= (p.Pro1177=)
8g.41933262G>ACA371064058KAT6Ac.4958C>T (p.Pro1653Leu)
c.4964C>T (p.Pro1655Leu)
c.3639C>T
c.5090C>T (p.Pro1697Leu)
c.5069C>T (p.Pro1690Leu)
c.4976C>T (p.Pro1659Leu)
c.3530C>T (p.Pro1177Leu)
ClinVar gnomAD v4
8g.41933262G>CCA371064060KAT6Ac.4958C>G (p.Pro1653Arg)
c.4964C>G (p.Pro1655Arg)
c.3639C>G
c.5090C>G (p.Pro1697Arg)
c.5069C>G (p.Pro1690Arg)
c.4976C>G (p.Pro1659Arg)
c.3530C>G (p.Pro1177Arg)
8g.41933262G>TCA371064062KAT6Ac.4958C>A (p.Pro1653Gln)
c.4964C>A (p.Pro1655Gln)
c.3639C>A
c.5090C>A (p.Pro1697Gln)
c.5069C>A (p.Pro1690Gln)
c.4976C>A (p.Pro1659Gln)
c.3530C>A (p.Pro1177Gln)
8g.41933263G>ACA371064064KAT6Ac.4957C>T (p.Pro1653Ser)
c.4963C>T (p.Pro1655Ser)
c.3638C>T
c.5089C>T (p.Pro1697Ser)
c.5068C>T (p.Pro1690Ser)
c.4975C>T (p.Pro1659Ser)
c.3529C>T (p.Pro1177Ser)
ClinVar
8g.41933263G>CCA371064066KAT6Ac.4957C>G (p.Pro1653Ala)
c.4963C>G (p.Pro1655Ala)
c.3638C>G
c.5089C>G (p.Pro1697Ala)
c.5068C>G (p.Pro1690Ala)
c.4975C>G (p.Pro1659Ala)
c.3529C>G (p.Pro1177Ala)
gnomAD v4
8g.41933263G>TCA371064068KAT6Ac.4957C>A (p.Pro1653Thr)
c.4963C>A (p.Pro1655Thr)
c.3638C>A
c.5089C>A (p.Pro1697Thr)
c.5068C>A (p.Pro1690Thr)
c.4975C>A (p.Pro1659Thr)
c.3529C>A (p.Pro1177Thr)
gnomAD v4
8g.41933264T>ACA460783395KAT6Ac.4956A>T (p.Pro1652=)
c.4962A>T (p.Pro1654=)
c.3637A>T
c.5088A>T (p.Pro1696=)
c.5067A>T (p.Pro1689=)
c.4974A>T (p.Pro1658=)
c.3528A>T (p.Pro1176=)
gnomAD v4
8g.41933264T>CCA4729398KAT6Ac.4956A>G (p.Pro1652=)
c.4962A>G (p.Pro1654=)
c.3637A>G
c.5088A>G (p.Pro1696=)
c.5067A>G (p.Pro1689=)
c.4974A>G (p.Pro1658=)
c.3528A>G (p.Pro1176=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933264T>GCA460783398KAT6Ac.4956A>C (p.Pro1652=)
c.4962A>C (p.Pro1654=)
c.3637A>C
c.5088A>C (p.Pro1696=)
c.5067A>C (p.Pro1689=)
c.4974A>C (p.Pro1658=)
c.3528A>C (p.Pro1176=)
dbSNP
8g.41933264T=CA1779195854KAT6Ac.4956A= (p.Pro1652=)
c.4962A= (p.Pro1654=)
c.3637A=
c.5088A= (p.Pro1696=)
c.5067A= (p.Pro1689=)
c.4974A= (p.Pro1658=)
c.3528A= (p.Pro1176=)
8g.41933265G>ACA371064072KAT6Ac.4955C>T (p.Pro1652Leu)
c.4961C>T (p.Pro1654Leu)
c.3636C>T
c.5087C>T (p.Pro1696Leu)
c.5066C>T (p.Pro1689Leu)
c.4973C>T (p.Pro1658Leu)
c.3527C>T (p.Pro1176Leu)
8g.41933265G>CCA371064074KAT6Ac.4955C>G (p.Pro1652Arg)
c.4961C>G (p.Pro1654Arg)
c.3636C>G
c.5087C>G (p.Pro1696Arg)
c.5066C>G (p.Pro1689Arg)
c.4973C>G (p.Pro1658Arg)
c.3527C>G (p.Pro1176Arg)
8g.41933265G=CA1779195855KAT6Ac.4955C= (p.Pro1652=)
c.4961C= (p.Pro1654=)
c.3636C=
c.5087C= (p.Pro1696=)
c.5066C= (p.Pro1689=)
c.4973C= (p.Pro1658=)
c.3527C= (p.Pro1176=)
8g.41933265G>TCA175938993KAT6Ac.4955C>A (p.Pro1652Gln)
c.4961C>A (p.Pro1654Gln)
c.3636C>A
c.5087C>A (p.Pro1696Gln)
c.5066C>A (p.Pro1689Gln)
c.4973C>A (p.Pro1658Gln)
c.3527C>A (p.Pro1176Gln)
dbSNP gnomAD v2 gnomAD v4
8g.41933268_41933270delCA2695209100KAT6Ac.4953_4955del (p.Pro1652del)
c.4959_4961del (p.Pro1654del)
c.3634_3636del
c.5085_5087del (p.Pro1696del)
c.5064_5066del (p.Pro1689del)
c.4971_4973del (p.Pro1658del)
c.3525_3527del (p.Pro1176del)
8g.41933266G>ACA371064078KAT6Ac.4954C>T (p.Pro1652Ser)
c.4960C>T (p.Pro1654Ser)
c.3635C>T
c.5086C>T (p.Pro1696Ser)
c.5065C>T (p.Pro1689Ser)
c.4972C>T (p.Pro1658Ser)
c.3526C>T (p.Pro1176Ser)
gnomAD v4
8g.41933266G>CCA371064080KAT6Ac.4954C>G (p.Pro1652Ala)
c.4960C>G (p.Pro1654Ala)
c.3635C>G
c.5086C>G (p.Pro1696Ala)
c.5065C>G (p.Pro1689Ala)
c.4972C>G (p.Pro1658Ala)
c.3526C>G (p.Pro1176Ala)
8g.41933266G>TCA371064082KAT6Ac.4954C>A (p.Pro1652Thr)
c.4960C>A (p.Pro1654Thr)
c.3635C>A
c.5086C>A (p.Pro1696Thr)
c.5065C>A (p.Pro1689Thr)
c.4972C>A (p.Pro1658Thr)
c.3526C>A (p.Pro1176Thr)
gnomAD v4
8g.41933267C>ACA460783400KAT6Ac.4953G>T (p.Pro1651=)
c.4959G>T (p.Pro1653=)
c.3634G>T
c.5085G>T (p.Pro1695=)
c.5064G>T (p.Pro1688=)
c.4971G>T (p.Pro1657=)
c.3525G>T (p.Pro1175=)
gnomAD v4
8g.41933267C=CA1779195856KAT6Ac.4953G= (p.Pro1651=)
c.4959G= (p.Pro1653=)
c.3634G=
c.5085G= (p.Pro1695=)
c.5064G= (p.Pro1688=)
c.4971G= (p.Pro1657=)
c.3525G= (p.Pro1175=)
8g.41933267C>GCA460783402KAT6Ac.4953G>C (p.Pro1651=)
c.4959G>C (p.Pro1653=)
c.3634G>C
c.5085G>C (p.Pro1695=)
c.5064G>C (p.Pro1688=)
c.4971G>C (p.Pro1657=)
c.3525G>C (p.Pro1175=)
gnomAD v4
8g.41933267C>TCA4729399KAT6Ac.4953G>A (p.Pro1651=)
c.4959G>A (p.Pro1653=)
c.3634G>A
c.5085G>A (p.Pro1695=)
c.5064G>A (p.Pro1688=)
c.4971G>A (p.Pro1657=)
c.3525G>A (p.Pro1175=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933267_41933268insTGTCA2717020650KAT6Ac.4952_4953insACA (p.Pro1651_Pro1652insGln)
c.4958_4959insACA (p.Pro1653_Pro1654insGln)
c.3633_3634insACA
c.5084_5085insACA (p.Pro1695_Pro1696insGln)
c.5063_5064insACA (p.Pro1688_Pro1689insGln)
c.4970_4971insACA (p.Pro1657_Pro1658insGln)
c.3524_3525insACA (p.Pro1175_Pro1176insGln)
dbSNP
8g.41933268G>ACA4729400KAT6Ac.4952C>T (p.Pro1651Leu)
c.4958C>T (p.Pro1653Leu)
c.3633C>T
c.5084C>T (p.Pro1695Leu)
c.5063C>T (p.Pro1688Leu)
c.4970C>T (p.Pro1657Leu)
c.3524C>T (p.Pro1175Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933268G>CCA371064087KAT6Ac.4952C>G (p.Pro1651Arg)
c.4958C>G (p.Pro1653Arg)
c.3633C>G
c.5084C>G (p.Pro1695Arg)
c.5063C>G (p.Pro1688Arg)
c.4970C>G (p.Pro1657Arg)
c.3524C>G (p.Pro1175Arg)
8g.41933268G=CA1779195857KAT6Ac.4952C= (p.Pro1651=)
c.4958C= (p.Pro1653=)
c.3633C=
c.5084C= (p.Pro1695=)
c.5063C= (p.Pro1688=)
c.4970C= (p.Pro1657=)
c.3524C= (p.Pro1175=)
8g.41933268G>TCA371064089KAT6Ac.4952C>A (p.Pro1651Gln)
c.4958C>A (p.Pro1653Gln)
c.3633C>A
c.5084C>A (p.Pro1695Gln)
c.5063C>A (p.Pro1688Gln)
c.4970C>A (p.Pro1657Gln)
c.3524C>A (p.Pro1175Gln)
gnomAD v4 COSMIC
8g.41933268_41933271delinsGGCTCA1779195858KAT6Ac.4949_4952delinsAGCC (p.Gln1650=)
c.4955_4958delinsAGCC (p.Gln1652=)
c.3630_3633delinsAGCC
c.5081_5084delinsAGCC (p.Gln1694=)
c.5060_5063delinsAGCC (p.Gln1687=)
c.4967_4970delinsAGCC (p.Gln1656=)
c.3521_3524delinsAGCC (p.Gln1174=)
8g.41933269G>ACA371064092KAT6Ac.4951C>T (p.Pro1651Ser)
c.4957C>T (p.Pro1653Ser)
c.3632C>T
c.5083C>T (p.Pro1695Ser)
c.5062C>T (p.Pro1688Ser)
c.4969C>T (p.Pro1657Ser)
c.3523C>T (p.Pro1175Ser)
ClinVar gnomAD v4
8g.41933269G>CCA371064094KAT6Ac.4951C>G (p.Pro1651Ala)
c.4957C>G (p.Pro1653Ala)
c.3632C>G
c.5083C>G (p.Pro1695Ala)
c.5062C>G (p.Pro1688Ala)
c.4969C>G (p.Pro1657Ala)
c.3523C>G (p.Pro1175Ala)
8g.41933269G>TCA371064096KAT6Ac.4951C>A (p.Pro1651Thr)
c.4957C>A (p.Pro1653Thr)
c.3632C>A
c.5083C>A (p.Pro1695Thr)
c.5062C>A (p.Pro1688Thr)
c.4969C>A (p.Pro1657Thr)
c.3523C>A (p.Pro1175Thr)
gnomAD v4
8g.41933279_41933281dupCA4729401KAT6Ac.4949_4951dup (p.Gln1650_Pro1651insGln)
c.4955_4957dup (p.Gln1652_Pro1653insGln)
c.3630_3632dup
c.5081_5083dup (p.Gln1694_Pro1695insGln)
c.5060_5062dup (p.Gln1687_Pro1688insGln)
c.4967_4969dup (p.Gln1656_Pro1657insGln)
c.3521_3523dup (p.Gln1174_Pro1175insGln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933279_41933281delCA581928324KAT6Ac.4949_4951del (p.Gln1650del)
c.4955_4957del (p.Gln1652del)
c.3630_3632del
c.5081_5083del (p.Gln1694del)
c.5060_5062del (p.Gln1687del)
c.4967_4969del (p.Gln1656del)
c.3521_3523del (p.Gln1174del)
dbSNP gnomAD v2 gnomAD v4
8g.41933270C>ACA371064098KAT6Ac.4950G>T (p.Gln1650His)
c.4956G>T (p.Gln1652His)
c.3631G>T
c.5082G>T (p.Gln1694His)
c.5061G>T (p.Gln1687His)
c.4968G>T (p.Gln1656His)
c.3522G>T (p.Gln1174His)
gnomAD v4
8g.41933270C>GCA371064100KAT6Ac.4950G>C (p.Gln1650His)
c.4956G>C (p.Gln1652His)
c.3631G>C
c.5082G>C (p.Gln1694His)
c.5061G>C (p.Gln1687His)
c.4968G>C (p.Gln1656His)
c.3522G>C (p.Gln1174His)
dbSNP
8g.41933270C>TCA460783408KAT6Ac.4950G>A (p.Gln1650=)
c.4956G>A (p.Gln1652=)
c.3631G>A
c.5082G>A (p.Gln1694=)
c.5061G>A (p.Gln1687=)
c.4968G>A (p.Gln1656=)
c.3522G>A (p.Gln1174=)
gnomAD v4
8g.41933271T>ACA371064103KAT6Ac.4949A>T (p.Gln1650Leu)
c.4955A>T (p.Gln1652Leu)
c.3630A>T
c.5081A>T (p.Gln1694Leu)
c.5060A>T (p.Gln1687Leu)
c.4967A>T (p.Gln1656Leu)
c.3521A>T (p.Gln1174Leu)
8g.41933271T>CCA371064105KAT6Ac.4949A>G (p.Gln1650Arg)
c.4955A>G (p.Gln1652Arg)
c.3630A>G
c.5081A>G (p.Gln1694Arg)
c.5060A>G (p.Gln1687Arg)
c.4967A>G (p.Gln1656Arg)
c.3521A>G (p.Gln1174Arg)
8g.41933271T>GCA371064106KAT6Ac.4949A>C (p.Gln1650Pro)
c.4955A>C (p.Gln1652Pro)
c.3630A>C
c.5081A>C (p.Gln1694Pro)
c.5060A>C (p.Gln1687Pro)
c.4967A>C (p.Gln1656Pro)
c.3521A>C (p.Gln1174Pro)
ClinVar dbSNP
8g.41933272G>ACA371064108KAT6Ac.4948C>T (p.Gln1650Ter)
c.4954C>T (p.Gln1652Ter)
c.3629C>T
c.5080C>T (p.Gln1694Ter)
c.5059C>T (p.Gln1687Ter)
c.4966C>T (p.Gln1656Ter)
c.3520C>T (p.Gln1174Ter)
gnomAD v4
8g.41933272G>CCA371064113KAT6Ac.4948C>G (p.Gln1650Glu)
c.4954C>G (p.Gln1652Glu)
c.3629C>G
c.5080C>G (p.Gln1694Glu)
c.5059C>G (p.Gln1687Glu)
c.4966C>G (p.Gln1656Glu)
c.3520C>G (p.Gln1174Glu)
8g.41933272G>TCA371064111KAT6Ac.4948C>A (p.Gln1650Lys)
c.4954C>A (p.Gln1652Lys)
c.3629C>A
c.5080C>A (p.Gln1694Lys)
c.5059C>A (p.Gln1687Lys)
c.4966C>A (p.Gln1656Lys)
c.3520C>A (p.Gln1174Lys)
gnomAD v4
8g.41933273C>ACA371064116KAT6Ac.4947G>T (p.Gln1649His)
c.4953G>T (p.Gln1651His)
c.3628G>T
c.5079G>T (p.Gln1693His)
c.5058G>T (p.Gln1686His)
c.4965G>T (p.Gln1655His)
c.3519G>T (p.Gln1173His)
8g.41933273C=CA1779195859KAT6Ac.4947G= (p.Gln1649=)
c.4953G= (p.Gln1651=)
c.3628G=
c.5079G= (p.Gln1693=)
c.5058G= (p.Gln1686=)
c.4965G= (p.Gln1655=)
c.3519G= (p.Gln1173=)
8g.41933273C>GCA371064119KAT6Ac.4947G>C (p.Gln1649His)
c.4953G>C (p.Gln1651His)
c.3628G>C
c.5079G>C (p.Gln1693His)
c.5058G>C (p.Gln1686His)
c.4965G>C (p.Gln1655His)
c.3519G>C (p.Gln1173His)
8g.41933273C>TCA175939012KAT6Ac.4947G>A (p.Gln1649=)
c.4953G>A (p.Gln1651=)
c.3628G>A
c.5079G>A (p.Gln1693=)
c.5058G>A (p.Gln1686=)
c.4965G>A (p.Gln1655=)
c.3519G>A (p.Gln1173=)
dbSNP gnomAD v4
8g.41933274T>ACA371064121KAT6Ac.4946A>T (p.Gln1649Leu)
c.4952A>T (p.Gln1651Leu)
c.3627A>T
c.5078A>T (p.Gln1693Leu)
c.5057A>T (p.Gln1686Leu)
c.4964A>T (p.Gln1655Leu)
c.3518A>T (p.Gln1173Leu)
8g.41933274T>CCA371064123KAT6Ac.4946A>G (p.Gln1649Arg)
c.4952A>G (p.Gln1651Arg)
c.3627A>G
c.5078A>G (p.Gln1693Arg)
c.5057A>G (p.Gln1686Arg)
c.4964A>G (p.Gln1655Arg)
c.3518A>G (p.Gln1173Arg)
8g.41933274T>GCA371064125KAT6Ac.4946A>C (p.Gln1649Pro)
c.4952A>C (p.Gln1651Pro)
c.3627A>C
c.5078A>C (p.Gln1693Pro)
c.5057A>C (p.Gln1686Pro)
c.4964A>C (p.Gln1655Pro)
c.3518A>C (p.Gln1173Pro)
8g.41933275G>ACA371064128KAT6Ac.4945C>T (p.Gln1649Ter)
c.4951C>T (p.Gln1651Ter)
c.3626C>T
c.5077C>T (p.Gln1693Ter)
c.5056C>T (p.Gln1686Ter)
c.4963C>T (p.Gln1655Ter)
c.3517C>T (p.Gln1173Ter)
ClinVar dbSNP gnomAD v4
8g.41933275G>CCA371064130KAT6Ac.4945C>G (p.Gln1649Glu)
c.4951C>G (p.Gln1651Glu)
c.3626C>G
c.5077C>G (p.Gln1693Glu)
c.5056C>G (p.Gln1686Glu)
c.4963C>G (p.Gln1655Glu)
c.3517C>G (p.Gln1173Glu)
8g.41933275G=CA1779195860KAT6Ac.4945C= (p.Gln1649=)
c.4951C= (p.Gln1651=)
c.3626C=
c.5077C= (p.Gln1693=)
c.5056C= (p.Gln1686=)
c.4963C= (p.Gln1655=)
c.3517C= (p.Gln1173=)
8g.41933275G>TCA371064132KAT6Ac.4945C>A (p.Gln1649Lys)
c.4951C>A (p.Gln1651Lys)
c.3626C>A
c.5077C>A (p.Gln1693Lys)
c.5056C>A (p.Gln1686Lys)
c.4963C>A (p.Gln1655Lys)
c.3517C>A (p.Gln1173Lys)
gnomAD v4
8g.41933276C>ACA371064136KAT6Ac.4944G>T (p.Gln1648His)
c.4950G>T (p.Gln1650His)
c.3625G>T
c.5076G>T (p.Gln1692His)
c.5055G>T (p.Gln1685His)
c.4962G>T (p.Gln1654His)
c.3516G>T (p.Gln1172His)
8g.41933276C=CA1779195861KAT6Ac.4944G= (p.Gln1648=)
c.4950G= (p.Gln1650=)
c.3625G=
c.5076G= (p.Gln1692=)
c.5055G= (p.Gln1685=)
c.4962G= (p.Gln1654=)
c.3516G= (p.Gln1172=)
8g.41933276C>GCA371064138KAT6Ac.4944G>C (p.Gln1648His)
c.4950G>C (p.Gln1650His)
c.3625G>C
c.5076G>C (p.Gln1692His)
c.5055G>C (p.Gln1685His)
c.4962G>C (p.Gln1654His)
c.3516G>C (p.Gln1172His)
8g.41933276C>TCA4729402KAT6Ac.4944G>A (p.Gln1648=)
c.4950G>A (p.Gln1650=)
c.3625G>A
c.5076G>A (p.Gln1692=)
c.5055G>A (p.Gln1685=)
c.4962G>A (p.Gln1654=)
c.3516G>A (p.Gln1172=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933277T>ACA371064142KAT6Ac.4943A>T (p.Gln1648Leu)
c.4949A>T (p.Gln1650Leu)
c.3624A>T
c.5075A>T (p.Gln1692Leu)
c.5054A>T (p.Gln1685Leu)
c.4961A>T (p.Gln1654Leu)
c.3515A>T (p.Gln1172Leu)
8g.41933277T>CCA371064140KAT6Ac.4943A>G (p.Gln1648Arg)
c.4949A>G (p.Gln1650Arg)
c.3624A>G
c.5075A>G (p.Gln1692Arg)
c.5054A>G (p.Gln1685Arg)
c.4961A>G (p.Gln1654Arg)
c.3515A>G (p.Gln1172Arg)
gnomAD v4
8g.41933277T>GCA371064141KAT6Ac.4943A>C (p.Gln1648Pro)
c.4949A>C (p.Gln1650Pro)
c.3624A>C
c.5075A>C (p.Gln1692Pro)
c.5054A>C (p.Gln1685Pro)
c.4961A>C (p.Gln1654Pro)
c.3515A>C (p.Gln1172Pro)
8g.41933278G>ACA371064145KAT6Ac.4942C>T (p.Gln1648Ter)
c.4948C>T (p.Gln1650Ter)
c.3623C>T
c.5074C>T (p.Gln1692Ter)
c.5053C>T (p.Gln1685Ter)
c.4960C>T (p.Gln1654Ter)
c.3514C>T (p.Gln1172Ter)
gnomAD v4
8g.41933278G>CCA371064147KAT6Ac.4942C>G (p.Gln1648Glu)
c.4948C>G (p.Gln1650Glu)
c.3623C>G
c.5074C>G (p.Gln1692Glu)
c.5053C>G (p.Gln1685Glu)
c.4960C>G (p.Gln1654Glu)
c.3514C>G (p.Gln1172Glu)
8g.41933278G>TCA371064148KAT6Ac.4942C>A (p.Gln1648Lys)
c.4948C>A (p.Gln1650Lys)
c.3623C>A
c.5074C>A (p.Gln1692Lys)
c.5053C>A (p.Gln1685Lys)
c.4960C>A (p.Gln1654Lys)
c.3514C>A (p.Gln1172Lys)
gnomAD v4
8g.41933279C>ACA4729403KAT6Ac.4941G>T (p.Gln1647His)
c.4947G>T (p.Gln1649His)
c.3622G>T
c.5073G>T (p.Gln1691His)
c.5052G>T (p.Gln1684His)
c.4959G>T (p.Gln1653His)
c.3513G>T (p.Gln1171His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933279C=CA1779195862KAT6Ac.4941G= (p.Gln1647=)
c.4947G= (p.Gln1649=)
c.3622G=
c.5073G= (p.Gln1691=)
c.5052G= (p.Gln1684=)
c.4959G= (p.Gln1653=)
c.3513G= (p.Gln1171=)
8g.41933279C>GCA371064149KAT6Ac.4941G>C (p.Gln1647His)
c.4947G>C (p.Gln1649His)
c.3622G>C
c.5073G>C (p.Gln1691His)
c.5052G>C (p.Gln1684His)
c.4959G>C (p.Gln1653His)
c.3513G>C (p.Gln1171His)
gnomAD v4
8g.41933279C>TCA460783421KAT6Ac.4941G>A (p.Gln1647=)
c.4947G>A (p.Gln1649=)
c.3622G>A
c.5073G>A (p.Gln1691=)
c.5052G>A (p.Gln1684=)
c.4959G>A (p.Gln1653=)
c.3513G>A (p.Gln1171=)
8g.41933280T>ACA371064151KAT6Ac.4940A>T (p.Gln1647Leu)
c.4946A>T (p.Gln1649Leu)
c.3621A>T
c.5072A>T (p.Gln1691Leu)
c.5051A>T (p.Gln1684Leu)
c.4958A>T (p.Gln1653Leu)
c.3512A>T (p.Gln1171Leu)
8g.41933280T>CCA371064154KAT6Ac.4940A>G (p.Gln1647Arg)
c.4946A>G (p.Gln1649Arg)
c.3621A>G
c.5072A>G (p.Gln1691Arg)
c.5051A>G (p.Gln1684Arg)
c.4958A>G (p.Gln1653Arg)
c.3512A>G (p.Gln1171Arg)
8g.41933280T>GCA4729404KAT6Ac.4940A>C (p.Gln1647Pro)
c.4946A>C (p.Gln1649Pro)
c.3621A>C
c.5072A>C (p.Gln1691Pro)
c.5051A>C (p.Gln1684Pro)
c.4958A>C (p.Gln1653Pro)
c.3512A>C (p.Gln1171Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933280T=CA1779195863KAT6Ac.4940A= (p.Gln1647=)
c.4946A= (p.Gln1649=)
c.3621A=
c.5072A= (p.Gln1691=)
c.5051A= (p.Gln1684=)
c.4958A= (p.Gln1653=)
c.3512A= (p.Gln1171=)
8g.41933281_41933283dupCA2580078481KAT6Ac.4938_4940dup (p.Asn1646_Gln1647insHis)
c.4944_4946dup (p.Asn1648_Gln1649insHis)
c.3619_3621dup
c.5070_5072dup (p.Asn1690_Gln1691insHis)
c.5049_5051dup (p.Asn1683_Gln1684insHis)
c.4956_4958dup (p.Asn1652_Gln1653insHis)
c.3510_3512dup (p.Asn1170_Gln1171insHis)
ClinVar
8g.41933281G>ACA371064158KAT6Ac.4939C>T (p.Gln1647Ter)
c.4945C>T (p.Gln1649Ter)
c.3620C>T
c.5071C>T (p.Gln1691Ter)
c.5050C>T (p.Gln1684Ter)
c.4957C>T (p.Gln1653Ter)
c.3511C>T (p.Gln1171Ter)
8g.41933281G>CCA371064159KAT6Ac.4939C>G (p.Gln1647Glu)
c.4945C>G (p.Gln1649Glu)
c.3620C>G
c.5071C>G (p.Gln1691Glu)
c.5050C>G (p.Gln1684Glu)
c.4957C>G (p.Gln1653Glu)
c.3511C>G (p.Gln1171Glu)
8g.41933281G>TCA371064162KAT6Ac.4939C>A (p.Gln1647Lys)
c.4945C>A (p.Gln1649Lys)
c.3620C>A
c.5071C>A (p.Gln1691Lys)
c.5050C>A (p.Gln1684Lys)
c.4957C>A (p.Gln1653Lys)
c.3511C>A (p.Gln1171Lys)
gnomAD v4
8g.41933282G>ACA4729405KAT6Ac.4938C>T (p.Asn1646=)
c.4944C>T (p.Asn1648=)
c.3619C>T
c.5070C>T (p.Asn1690=)
c.5049C>T (p.Asn1683=)
c.4956C>T (p.Asn1652=)
c.3510C>T (p.Asn1170=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933282G>CCA371064170KAT6Ac.4938C>G (p.Asn1646Lys)
c.4944C>G (p.Asn1648Lys)
c.3619C>G
c.5070C>G (p.Asn1690Lys)
c.5049C>G (p.Asn1683Lys)
c.4956C>G (p.Asn1652Lys)
c.3510C>G (p.Asn1170Lys)
8g.41933282G=CA1779195864KAT6Ac.4938C= (p.Asn1646=)
c.4944C= (p.Asn1648=)
c.3619C=
c.5070C= (p.Asn1690=)
c.5049C= (p.Asn1683=)
c.4956C= (p.Asn1652=)
c.3510C= (p.Asn1170=)
8g.41933282G>TCA371064166KAT6Ac.4938C>A (p.Asn1646Lys)
c.4944C>A (p.Asn1648Lys)
c.3619C>A
c.5070C>A (p.Asn1690Lys)
c.5049C>A (p.Asn1683Lys)
c.4956C>A (p.Asn1652Lys)
c.3510C>A (p.Asn1170Lys)
gnomAD v4
8g.41933283T>ACA371064175KAT6Ac.4937A>T (p.Asn1646Ile)
c.4943A>T (p.Asn1648Ile)
c.3618A>T
c.5069A>T (p.Asn1690Ile)
c.5048A>T (p.Asn1683Ile)
c.4955A>T (p.Asn1652Ile)
c.3509A>T (p.Asn1170Ile)
8g.41933283T>CCA371064172KAT6Ac.4937A>G (p.Asn1646Ser)
c.4943A>G (p.Asn1648Ser)
c.3618A>G
c.5069A>G (p.Asn1690Ser)
c.5048A>G (p.Asn1683Ser)
c.4955A>G (p.Asn1652Ser)
c.3509A>G (p.Asn1170Ser)
gnomAD v4
8g.41933283T>GCA175939034KAT6Ac.4937A>C (p.Asn1646Thr)
c.4943A>C (p.Asn1648Thr)
c.3618A>C
c.5069A>C (p.Asn1690Thr)
c.5048A>C (p.Asn1683Thr)
c.4955A>C (p.Asn1652Thr)
c.3509A>C (p.Asn1170Thr)
dbSNP
8g.41933283T=CA1779195865KAT6Ac.4937A= (p.Asn1646=)
c.4943A= (p.Asn1648=)
c.3618A=
c.5069A= (p.Asn1690=)
c.5048A= (p.Asn1683=)
c.4955A= (p.Asn1652=)
c.3509A= (p.Asn1170=)
8g.41933284T>ACA371064177KAT6Ac.4936A>T (p.Asn1646Tyr)
c.4942A>T (p.Asn1648Tyr)
c.3617A>T
c.5068A>T (p.Asn1690Tyr)
c.5047A>T (p.Asn1683Tyr)
c.4954A>T (p.Asn1652Tyr)
c.3508A>T (p.Asn1170Tyr)
8g.41933284T>CCA371064179KAT6Ac.4936A>G (p.Asn1646Asp)
c.4942A>G (p.Asn1648Asp)
c.3617A>G
c.5068A>G (p.Asn1690Asp)
c.5047A>G (p.Asn1683Asp)
c.4954A>G (p.Asn1652Asp)
c.3508A>G (p.Asn1170Asp)
8g.41933284T>GCA371064180KAT6Ac.4936A>C (p.Asn1646His)
c.4942A>C (p.Asn1648His)
c.3617A>C
c.5068A>C (p.Asn1690His)
c.5047A>C (p.Asn1683His)
c.4954A>C (p.Asn1652His)
c.3508A>C (p.Asn1170His)
8g.41933285A>CCA371064182KAT6Ac.4935T>G (p.Ser1645Arg)
c.4941T>G (p.Ser1647Arg)
c.3616T>G
c.5067T>G (p.Ser1689Arg)
c.5046T>G (p.Ser1682Arg)
c.4953T>G (p.Ser1651Arg)
c.3507T>G (p.Ser1169Arg)
8g.41933285A>GCA460783428KAT6Ac.4935T>C (p.Ser1645=)
c.4941T>C (p.Ser1647=)
c.3616T>C
c.5067T>C (p.Ser1689=)
c.5046T>C (p.Ser1682=)
c.4953T>C (p.Ser1651=)
c.3507T>C (p.Ser1169=)
gnomAD v4
8g.41933285A>TCA371064183KAT6Ac.4935T>A (p.Ser1645Arg)
c.4941T>A (p.Ser1647Arg)
c.3616T>A
c.5067T>A (p.Ser1689Arg)
c.5046T>A (p.Ser1682Arg)
c.4953T>A (p.Ser1651Arg)
c.3507T>A (p.Ser1169Arg)
8g.41933286C>ACA371064187KAT6Ac.4934G>T (p.Ser1645Ile)
c.4940G>T (p.Ser1647Ile)
c.3615G>T
c.5066G>T (p.Ser1689Ile)
c.5045G>T (p.Ser1682Ile)
c.4952G>T (p.Ser1651Ile)
c.3506G>T (p.Ser1169Ile)
8g.41933286C>GCA371064188KAT6Ac.4934G>C (p.Ser1645Thr)
c.4940G>C (p.Ser1647Thr)
c.3615G>C
c.5066G>C (p.Ser1689Thr)
c.5045G>C (p.Ser1682Thr)
c.4952G>C (p.Ser1651Thr)
c.3506G>C (p.Ser1169Thr)
8g.41933286C>TCA371064190KAT6Ac.4934G>A (p.Ser1645Asn)
c.4940G>A (p.Ser1647Asn)
c.3615G>A
c.5066G>A (p.Ser1689Asn)
c.5045G>A (p.Ser1682Asn)
c.4952G>A (p.Ser1651Asn)
c.3506G>A (p.Ser1169Asn)
gnomAD v4
8g.41933287T>ACA371064193KAT6Ac.4933A>T (p.Ser1645Cys)
c.4939A>T (p.Ser1647Cys)
c.3614A>T
c.5065A>T (p.Ser1689Cys)
c.5044A>T (p.Ser1682Cys)
c.4951A>T (p.Ser1651Cys)
c.3505A>T (p.Ser1169Cys)
8g.41933287T>CCA4729406KAT6Ac.4933A>G (p.Ser1645Gly)
c.4939A>G (p.Ser1647Gly)
c.3614A>G
c.5065A>G (p.Ser1689Gly)
c.5044A>G (p.Ser1682Gly)
c.4951A>G (p.Ser1651Gly)
c.3505A>G (p.Ser1169Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933287T>GCA371064196KAT6Ac.4933A>C (p.Ser1645Arg)
c.4939A>C (p.Ser1647Arg)
c.3614A>C
c.5065A>C (p.Ser1689Arg)
c.5044A>C (p.Ser1682Arg)
c.4951A>C (p.Ser1651Arg)
c.3505A>C (p.Ser1169Arg)
8g.41933287T=CA1779195866KAT6Ac.4933A= (p.Ser1645=)
c.4939A= (p.Ser1647=)
c.3614A=
c.5065A= (p.Ser1689=)
c.5044A= (p.Ser1682=)
c.4951A= (p.Ser1651=)
c.3505A= (p.Ser1169=)
8g.41933288G>ACA460783436KAT6Ac.4932C>T (p.Pro1644=)
c.4938C>T (p.Pro1646=)
c.3613C>T
c.5064C>T (p.Pro1688=)
c.5043C>T (p.Pro1681=)
c.4950C>T (p.Pro1650=)
c.3504C>T (p.Pro1168=)
ClinVar
8g.41933288G>CCA460783435KAT6Ac.4932C>G (p.Pro1644=)
c.4938C>G (p.Pro1646=)
c.3613C>G
c.5064C>G (p.Pro1688=)
c.5043C>G (p.Pro1681=)
c.4950C>G (p.Pro1650=)
c.3504C>G (p.Pro1168=)
8g.41933288G>TCA460783434KAT6Ac.4932C>A (p.Pro1644=)
c.4938C>A (p.Pro1646=)
c.3613C>A
c.5064C>A (p.Pro1688=)
c.5043C>A (p.Pro1681=)
c.4950C>A (p.Pro1650=)
c.3504C>A (p.Pro1168=)
gnomAD v4
8g.41933289G>ACA371064202KAT6Ac.4931C>T (p.Pro1644Leu)
c.4937C>T (p.Pro1646Leu)
c.3612C>T
c.5063C>T (p.Pro1688Leu)
c.5042C>T (p.Pro1681Leu)
c.4949C>T (p.Pro1650Leu)
c.3503C>T (p.Pro1168Leu)
ClinVar gnomAD v4
8g.41933289G>CCA371064198KAT6Ac.4931C>G (p.Pro1644Arg)
c.4937C>G (p.Pro1646Arg)
c.3612C>G
c.5063C>G (p.Pro1688Arg)
c.5042C>G (p.Pro1681Arg)
c.4949C>G (p.Pro1650Arg)
c.3503C>G (p.Pro1168Arg)
8g.41933289G>TCA371064200KAT6Ac.4931C>A (p.Pro1644His)
c.4937C>A (p.Pro1646His)
c.3612C>A
c.5063C>A (p.Pro1688His)
c.5042C>A (p.Pro1681His)
c.4949C>A (p.Pro1650His)
c.3503C>A (p.Pro1168His)
gnomAD v4
8g.41933290G>ACA371064204KAT6Ac.4930C>T (p.Pro1644Ser)
c.4936C>T (p.Pro1646Ser)
c.3611C>T
c.5062C>T (p.Pro1688Ser)
c.5041C>T (p.Pro1681Ser)
c.4948C>T (p.Pro1650Ser)
c.3502C>T (p.Pro1168Ser)
8g.41933290G>CCA371064206KAT6Ac.4930C>G (p.Pro1644Ala)
c.4936C>G (p.Pro1646Ala)
c.3611C>G
c.5062C>G (p.Pro1688Ala)
c.5041C>G (p.Pro1681Ala)
c.4948C>G (p.Pro1650Ala)
c.3502C>G (p.Pro1168Ala)
8g.41933290G>TCA371064208KAT6Ac.4930C>A (p.Pro1644Thr)
c.4936C>A (p.Pro1646Thr)
c.3611C>A
c.5062C>A (p.Pro1688Thr)
c.5041C>A (p.Pro1681Thr)
c.4948C>A (p.Pro1650Thr)
c.3502C>A (p.Pro1168Thr)
gnomAD v4
8g.41933291A>CCA460783438KAT6Ac.4929T>G (p.Pro1643=)
c.4935T>G (p.Pro1645=)
c.3610T>G
c.5061T>G (p.Pro1687=)
c.5040T>G (p.Pro1680=)
c.4947T>G (p.Pro1649=)
c.3501T>G (p.Pro1167=)
8g.41933291A>GCA460783439KAT6Ac.4929T>C (p.Pro1643=)
c.4935T>C (p.Pro1645=)
c.3610T>C
c.5061T>C (p.Pro1687=)
c.5040T>C (p.Pro1680=)
c.4947T>C (p.Pro1649=)
c.3501T>C (p.Pro1167=)
dbSNP gnomAD v4
8g.41933291A>TCA460783440KAT6Ac.4929T>A (p.Pro1643=)
c.4935T>A (p.Pro1645=)
c.3610T>A
c.5061T>A (p.Pro1687=)
c.5040T>A (p.Pro1680=)
c.4947T>A (p.Pro1649=)
c.3501T>A (p.Pro1167=)
gnomAD v4
8g.41933292G>ACA371064211KAT6Ac.4928C>T (p.Pro1643Leu)
c.4934C>T (p.Pro1645Leu)
c.3609C>T
c.5060C>T (p.Pro1687Leu)
c.5039C>T (p.Pro1680Leu)
c.4946C>T (p.Pro1649Leu)
c.3500C>T (p.Pro1167Leu)
8g.41933292G>CCA371064213KAT6Ac.4928C>G (p.Pro1643Arg)
c.4934C>G (p.Pro1645Arg)
c.3609C>G
c.5060C>G (p.Pro1687Arg)
c.5039C>G (p.Pro1680Arg)
c.4946C>G (p.Pro1649Arg)
c.3500C>G (p.Pro1167Arg)
8g.41933292G>TCA371064215KAT6Ac.4928C>A (p.Pro1643His)
c.4934C>A (p.Pro1645His)
c.3609C>A
c.5060C>A (p.Pro1687His)
c.5039C>A (p.Pro1680His)
c.4946C>A (p.Pro1649His)
c.3500C>A (p.Pro1167His)
gnomAD v4
8g.41933293G>ACA371064217KAT6Ac.4927C>T (p.Pro1643Ser)
c.4933C>T (p.Pro1645Ser)
c.3608C>T
c.5059C>T (p.Pro1687Ser)
c.5038C>T (p.Pro1680Ser)
c.4945C>T (p.Pro1649Ser)
c.3499C>T (p.Pro1167Ser)
8g.41933293G>CCA371064219KAT6Ac.4927C>G (p.Pro1643Ala)
c.4933C>G (p.Pro1645Ala)
c.3608C>G
c.5059C>G (p.Pro1687Ala)
c.5038C>G (p.Pro1680Ala)
c.4945C>G (p.Pro1649Ala)
c.3499C>G (p.Pro1167Ala)
8g.41933293G>TCA371064221KAT6Ac.4927C>A (p.Pro1643Thr)
c.4933C>A (p.Pro1645Thr)
c.3608C>A
c.5059C>A (p.Pro1687Thr)
c.5038C>A (p.Pro1680Thr)
c.4945C>A (p.Pro1649Thr)
c.3499C>A (p.Pro1167Thr)
gnomAD v4
8g.41933294C>ACA371064223KAT6Ac.4926G>T (p.Arg1642Ser)
c.4932G>T (p.Arg1644Ser)
c.3607G>T
c.5058G>T (p.Arg1686Ser)
c.5037G>T (p.Arg1679Ser)
c.4944G>T (p.Arg1648Ser)
c.3498G>T (p.Arg1166Ser)
gnomAD v4
8g.41933294C>GCA371064225KAT6Ac.4926G>C (p.Arg1642Ser)
c.4932G>C (p.Arg1644Ser)
c.3607G>C
c.5058G>C (p.Arg1686Ser)
c.5037G>C (p.Arg1679Ser)
c.4944G>C (p.Arg1648Ser)
c.3498G>C (p.Arg1166Ser)
8g.41933294C>TCA460783443KAT6Ac.4926G>A (p.Arg1642=)
c.4932G>A (p.Arg1644=)
c.3607G>A
c.5058G>A (p.Arg1686=)
c.5037G>A (p.Arg1679=)
c.4944G>A (p.Arg1648=)
c.3498G>A (p.Arg1166=)
8g.41933295C>ACA371064231KAT6Ac.4925G>T (p.Arg1642Met)
c.4931G>T (p.Arg1644Met)
c.3606G>T
c.5057G>T (p.Arg1686Met)
c.5036G>T (p.Arg1679Met)
c.4943G>T (p.Arg1648Met)
c.3497G>T (p.Arg1166Met)
gnomAD v4
8g.41933295C>GCA371064229KAT6Ac.4925G>C (p.Arg1642Thr)
c.4931G>C (p.Arg1644Thr)
c.3606G>C
c.5057G>C (p.Arg1686Thr)
c.5036G>C (p.Arg1679Thr)
c.4943G>C (p.Arg1648Thr)
c.3497G>C (p.Arg1166Thr)
8g.41933295C>TCA371064227KAT6Ac.4925G>A (p.Arg1642Lys)
c.4931G>A (p.Arg1644Lys)
c.3606G>A
c.5057G>A (p.Arg1686Lys)
c.5036G>A (p.Arg1679Lys)
c.4943G>A (p.Arg1648Lys)
c.3497G>A (p.Arg1166Lys)
8g.41933296T>ACA371064233KAT6Ac.4924A>T (p.Arg1642Trp)
c.4930A>T (p.Arg1644Trp)
c.3605A>T
c.5056A>T (p.Arg1686Trp)
c.5035A>T (p.Arg1679Trp)
c.4942A>T (p.Arg1648Trp)
c.3496A>T (p.Arg1166Trp)
8g.41933296T>CCA371064235KAT6Ac.4924A>G (p.Arg1642Gly)
c.4930A>G (p.Arg1644Gly)
c.3605A>G
c.5056A>G (p.Arg1686Gly)
c.5035A>G (p.Arg1679Gly)
c.4942A>G (p.Arg1648Gly)
c.3496A>G (p.Arg1166Gly)
gnomAD v4
8g.41933296T>GCA460783449KAT6Ac.4924A>C (p.Arg1642=)
c.4930A>C (p.Arg1644=)
c.3605A>C
c.5056A>C (p.Arg1686=)
c.5035A>C (p.Arg1679=)
c.4942A>C (p.Arg1648=)
c.3496A>C (p.Arg1166=)
8g.41933297C>ACA371064237KAT6Ac.4923G>T (p.Glu1641Asp)
c.4929G>T (p.Glu1643Asp)
c.3604G>T
c.5055G>T (p.Glu1685Asp)
c.5034G>T (p.Glu1678Asp)
c.4941G>T (p.Glu1647Asp)
c.3495G>T (p.Glu1165Asp)
8g.41933297C>GCA371064239KAT6Ac.4923G>C (p.Glu1641Asp)
c.4929G>C (p.Glu1643Asp)
c.3604G>C
c.5055G>C (p.Glu1685Asp)
c.5034G>C (p.Glu1678Asp)
c.4941G>C (p.Glu1647Asp)
c.3495G>C (p.Glu1165Asp)
gnomAD v4
8g.41933297C>TCA460783450KAT6Ac.4923G>A (p.Glu1641=)
c.4929G>A (p.Glu1643=)
c.3604G>A
c.5055G>A (p.Glu1685=)
c.5034G>A (p.Glu1678=)
c.4941G>A (p.Glu1647=)
c.3495G>A (p.Glu1165=)
8g.41933298T>ACA371064241KAT6Ac.4922A>T (p.Glu1641Val)
c.4928A>T (p.Glu1643Val)
c.3603A>T
c.5054A>T (p.Glu1685Val)
c.5033A>T (p.Glu1678Val)
c.4940A>T (p.Glu1647Val)
c.3494A>T (p.Glu1165Val)
8g.41933298T>CCA371064244KAT6Ac.4922A>G (p.Glu1641Gly)
c.4928A>G (p.Glu1643Gly)
c.3603A>G
c.5054A>G (p.Glu1685Gly)
c.5033A>G (p.Glu1678Gly)
c.4940A>G (p.Glu1647Gly)
c.3494A>G (p.Glu1165Gly)
gnomAD v4
8g.41933298T>GCA371064246KAT6Ac.4922A>C (p.Glu1641Ala)
c.4928A>C (p.Glu1643Ala)
c.3603A>C
c.5054A>C (p.Glu1685Ala)
c.5033A>C (p.Glu1678Ala)
c.4940A>C (p.Glu1647Ala)
c.3494A>C (p.Glu1165Ala)
8g.41933298_41933301delinsTCCACA1779195867KAT6Ac.4919_4922delinsTGGA (p.Val1640=)
c.4925_4928delinsTGGA (p.Val1642=)
c.3600_3603delinsTGGA
c.5051_5054delinsTGGA (p.Val1684=)
c.5030_5033delinsTGGA (p.Val1677=)
c.4937_4940delinsTGGA (p.Val1646=)
c.3491_3494delinsTGGA (p.Val1164=)
8g.41933299C>ACA371064249KAT6Ac.4921G>T (p.Glu1641Ter)
c.4927G>T (p.Glu1643Ter)
c.3602G>T
c.5053G>T (p.Glu1685Ter)
c.5032G>T (p.Glu1678Ter)
c.4939G>T (p.Glu1647Ter)
c.3493G>T (p.Glu1165Ter)
8g.41933299C>GCA371064251KAT6Ac.4921G>C (p.Glu1641Gln)
c.4927G>C (p.Glu1643Gln)
c.3602G>C
c.5053G>C (p.Glu1685Gln)
c.5032G>C (p.Glu1678Gln)
c.4939G>C (p.Glu1647Gln)
c.3493G>C (p.Glu1165Gln)
8g.41933299C>TCA371064253KAT6Ac.4921G>A (p.Glu1641Lys)
c.4927G>A (p.Glu1643Lys)
c.3602G>A
c.5053G>A (p.Glu1685Lys)
c.5032G>A (p.Glu1678Lys)
c.4939G>A (p.Glu1647Lys)
c.3493G>A (p.Glu1165Lys)
gnomAD v4
8g.41933303_41933305delCA581928325KAT6Ac.4919_4921del (p.Val1640del)
c.4925_4927del (p.Val1642del)
c.3600_3602del
c.5051_5053del (p.Val1684del)
c.5030_5032del (p.Val1677del)
c.4937_4939del (p.Val1646del)
c.3491_3493del (p.Val1164del)
dbSNP gnomAD v2 gnomAD v4
8g.41933300C>ACA460783453KAT6Ac.4920G>T (p.Val1640=)
c.4926G>T (p.Val1642=)
c.3601G>T
c.5052G>T (p.Val1684=)
c.5031G>T (p.Val1677=)
c.4938G>T (p.Val1646=)
c.3492G>T (p.Val1164=)
gnomAD v4
8g.41933300C>GCA460783457KAT6Ac.4920G>C (p.Val1640=)
c.4926G>C (p.Val1642=)
c.3601G>C
c.5052G>C (p.Val1684=)
c.5031G>C (p.Val1677=)
c.4938G>C (p.Val1646=)
c.3492G>C (p.Val1164=)
8g.41933300C>TCA460783455KAT6Ac.4920G>A (p.Val1640=)
c.4926G>A (p.Val1642=)
c.3601G>A
c.5052G>A (p.Val1684=)
c.5031G>A (p.Val1677=)
c.4938G>A (p.Val1646=)
c.3492G>A (p.Val1164=)
gnomAD v4
8g.41933301A>CCA371064257KAT6Ac.4919T>G (p.Val1640Gly)
c.4925T>G (p.Val1642Gly)
c.3600T>G
c.5051T>G (p.Val1684Gly)
c.5030T>G (p.Val1677Gly)
c.4937T>G (p.Val1646Gly)
c.3491T>G (p.Val1164Gly)
gnomAD v4
8g.41933301A>GCA371064258KAT6Ac.4919T>C (p.Val1640Ala)
c.4925T>C (p.Val1642Ala)
c.3600T>C
c.5051T>C (p.Val1684Ala)
c.5030T>C (p.Val1677Ala)
c.4937T>C (p.Val1646Ala)
c.3491T>C (p.Val1164Ala)
8g.41933301A>TCA371064260KAT6Ac.4919T>A (p.Val1640Glu)
c.4925T>A (p.Val1642Glu)
c.3600T>A
c.5051T>A (p.Val1684Glu)
c.5030T>A (p.Val1677Glu)
c.4937T>A (p.Val1646Glu)
c.3491T>A (p.Val1164Glu)

Number of alleles fetched