Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132941493C>ACA210826TGc.5184C>A (p.Cys1728Ter)
c.599+5629C>A
c.1839C>A
c.5041+5629C>A (n.5041+5629C>A)
c.5013C>A (p.Cys1671Ter)
c.4965C>A (p.Cys1655Ter)
c.4923C>A (p.Cys1641Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941493C=CA1821019351TGc.5184C= (p.Cys1728=)
c.599+5629C=
c.1839C=
c.5041+5629C= (n.5041+5629C=)
c.5013C= (p.Cys1671=)
c.4965C= (p.Cys1655=)
c.4923C= (p.Cys1641=)
8g.132941493C>GCA372251640TGc.5184C>G (p.Cys1728Trp)
c.599+5629C>G
c.1839C>G
c.5041+5629C>G (n.5041+5629C>G)
c.5013C>G (p.Cys1671Trp)
c.4965C>G (p.Cys1655Trp)
c.4923C>G (p.Cys1641Trp)
8g.132941493C>TCA4884387TGc.5184C>T (p.Cys1728=)
c.599+5629C>T
c.1839C>T
c.5041+5629C>T (n.5041+5629C>T)
c.5013C>T (p.Cys1671=)
c.4965C>T (p.Cys1655=)
c.4923C>T (p.Cys1641=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941494G>ACA372251642TGc.5185G>A (p.Asp1729Asn)
c.599+5630G>A
c.1840G>A
c.5041+5630G>A (n.5041+5630G>A)
c.5014G>A (p.Asp1672Asn)
c.4966G>A (p.Asp1656Asn)
c.4924G>A (p.Asp1642Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.132941494G>CCA372251643TGc.5185G>C (p.Asp1729His)
c.599+5630G>C
c.1840G>C
c.5041+5630G>C (n.5041+5630G>C)
c.5014G>C (p.Asp1672His)
c.4966G>C (p.Asp1656His)
c.4924G>C (p.Asp1642His)
8g.132941494G=CA1821019352TGc.5185G= (p.Asp1729=)
c.599+5630G=
c.1840G=
c.5041+5630G= (n.5041+5630G=)
c.5014G= (p.Asp1672=)
c.4966G= (p.Asp1656=)
c.4924G= (p.Asp1642=)
8g.132941494G>TCA372251644TGc.5185G>T (p.Asp1729Tyr)
c.599+5630G>T
c.1840G>T
c.5041+5630G>T (n.5041+5630G>T)
c.5014G>T (p.Asp1672Tyr)
c.4966G>T (p.Asp1656Tyr)
c.4924G>T (p.Asp1642Tyr)
8g.132941495A=CA1821019353TGc.5186A= (p.Asp1729=)
c.599+5631A=
c.1841A=
c.5041+5631A= (n.5041+5631A=)
c.5015A= (p.Asp1672=)
c.4967A= (p.Asp1656=)
c.4925A= (p.Asp1642=)
8g.132941495A>CCA4884388TGc.5186A>C (p.Asp1729Ala)
c.599+5631A>C
c.1841A>C
c.5041+5631A>C (n.5041+5631A>C)
c.5015A>C (p.Asp1672Ala)
c.4967A>C (p.Asp1656Ala)
c.4925A>C (p.Asp1642Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941495A>GCA372251647TGc.5186A>G (p.Asp1729Gly)
c.599+5631A>G
c.1841A>G
c.5041+5631A>G (n.5041+5631A>G)
c.5015A>G (p.Asp1672Gly)
c.4967A>G (p.Asp1656Gly)
c.4925A>G (p.Asp1642Gly)
8g.132941495A>TCA372251646TGc.5186A>T (p.Asp1729Val)
c.599+5631A>T
c.1841A>T
c.5041+5631A>T (n.5041+5631A>T)
c.5015A>T (p.Asp1672Val)
c.4967A>T (p.Asp1656Val)
c.4925A>T (p.Asp1642Val)
8g.132941496C>ACA372251649TGc.5187C>A (p.Asp1729Glu)
c.599+5632C>A
c.1842C>A
c.5041+5632C>A (n.5041+5632C>A)
c.5016C>A (p.Asp1672Glu)
c.4968C>A (p.Asp1656Glu)
c.4926C>A (p.Asp1642Glu)
8g.132941496C>GCA372251651TGc.5187C>G (p.Asp1729Glu)
c.599+5632C>G
c.1842C>G
c.5041+5632C>G (n.5041+5632C>G)
c.5016C>G (p.Asp1672Glu)
c.4968C>G (p.Asp1656Glu)
c.4926C>G (p.Asp1642Glu)
8g.132941496C>TCA463014049TGc.5187C>T (p.Asp1729=)
c.599+5632C>T
c.1842C>T
c.5041+5632C>T (n.5041+5632C>T)
c.5016C>T (p.Asp1672=)
c.4968C>T (p.Asp1656=)
c.4926C>T (p.Asp1642=)
 gnomAD v4
8g.132941497C>ACA4884390TGc.5188C>A (p.Arg1730Ser)
c.599+5633C>A
c.1843C>A
c.5041+5633C>A (n.5041+5633C>A)
c.5017C>A (p.Arg1673Ser)
c.4969C>A (p.Arg1657Ser)
c.4927C>A (p.Arg1643Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941497C=CA1821019354TGc.5188C= (p.Arg1730=)
c.599+5633C=
c.1843C=
c.5041+5633C= (n.5041+5633C=)
c.5017C= (p.Arg1673=)
c.4969C= (p.Arg1657=)
c.4927C= (p.Arg1643=)
8g.132941497C>GCA372251653TGc.5188C>G (p.Arg1730Gly)
c.599+5633C>G
c.1843C>G
c.5041+5633C>G (n.5041+5633C>G)
c.5017C>G (p.Arg1673Gly)
c.4969C>G (p.Arg1657Gly)
c.4927C>G (p.Arg1643Gly)
8g.132941497C>TCA4884389TGc.5188C>T (p.Arg1730Cys)
c.599+5633C>T
c.1843C>T
c.5041+5633C>T (n.5041+5633C>T)
c.5017C>T (p.Arg1673Cys)
c.4969C>T (p.Arg1657Cys)
c.4927C>T (p.Arg1643Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132941498G>ACA4884391TGc.5189G>A (p.Arg1730His)
c.599+5634G>A
c.1844G>A
c.5041+5634G>A (n.5041+5634G>A)
c.5018G>A (p.Arg1673His)
c.4970G>A (p.Arg1657His)
c.4928G>A (p.Arg1643His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941498G>CCA372251655TGc.5189G>C (p.Arg1730Pro)
c.599+5634G>C
c.1844G>C
c.5041+5634G>C (n.5041+5634G>C)
c.5018G>C (p.Arg1673Pro)
c.4970G>C (p.Arg1657Pro)
c.4928G>C (p.Arg1643Pro)
8g.132941498G=CA1821019355TGc.5189G= (p.Arg1730=)
c.599+5634G=
c.1844G=
c.5041+5634G= (n.5041+5634G=)
c.5018G= (p.Arg1673=)
c.4970G= (p.Arg1657=)
c.4928G= (p.Arg1643=)
8g.132941498G>TCA372251656TGc.5189G>T (p.Arg1730Leu)
c.599+5634G>T
c.1844G>T
c.5041+5634G>T (n.5041+5634G>T)
c.5018G>T (p.Arg1673Leu)
c.4970G>T (p.Arg1657Leu)
c.4928G>T (p.Arg1643Leu)
8g.132941499T>ACA463014050TGc.5190T>A (p.Arg1730=)
c.599+5635T>A
c.1845T>A
c.5041+5635T>A (n.5041+5635T>A)
c.5019T>A (p.Arg1673=)
c.4971T>A (p.Arg1657=)
c.4929T>A (p.Arg1643=)
8g.132941499T>CCA463014051TGc.5190T>C (p.Arg1730=)
c.599+5635T>C
c.1845T>C
c.5041+5635T>C (n.5041+5635T>C)
c.5019T>C (p.Arg1673=)
c.4971T>C (p.Arg1657=)
c.4929T>C (p.Arg1643=)
8g.132941499T>GCA463014052TGc.5190T>G (p.Arg1730=)
c.599+5635T>G
c.1845T>G
c.5041+5635T>G (n.5041+5635T>G)
c.5019T>G (p.Arg1673=)
c.4971T>G (p.Arg1657=)
c.4929T>G (p.Arg1643=)
8g.132941500G>ACA372251658TGc.5191G>A (p.Asp1731Asn)
c.599+5636G>A
c.1846G>A
c.5041+5636G>A (n.5041+5636G>A)
c.5020G>A (p.Asp1674Asn)
c.4972G>A (p.Asp1658Asn)
c.4930G>A (p.Asp1644Asn)
8g.132941500G>CCA372251659TGc.5191G>C (p.Asp1731His)
c.599+5636G>C
c.1846G>C
c.5041+5636G>C (n.5041+5636G>C)
c.5020G>C (p.Asp1674His)
c.4972G>C (p.Asp1658His)
c.4930G>C (p.Asp1644His)
8g.132941500G>TCA372251660TGc.5191G>T (p.Asp1731Tyr)
c.599+5636G>T
c.1846G>T
c.5041+5636G>T (n.5041+5636G>T)
c.5020G>T (p.Asp1674Tyr)
c.4972G>T (p.Asp1658Tyr)
c.4930G>T (p.Asp1644Tyr)
8g.132941501A=CA1821019356TGc.5192A= (p.Asp1731=)
c.599+5637A=
c.1847A=
c.5041+5637A= (n.5041+5637A=)
c.5021A= (p.Asp1674=)
c.4973A= (p.Asp1658=)
c.4931A= (p.Asp1644=)
8g.132941501A>CCA372251664TGc.5192A>C (p.Asp1731Ala)
c.599+5637A>C
c.1847A>C
c.5041+5637A>C (n.5041+5637A>C)
c.5021A>C (p.Asp1674Ala)
c.4973A>C (p.Asp1658Ala)
c.4931A>C (p.Asp1644Ala)
8g.132941501A>GCA186325850TGc.5192A>G (p.Asp1731Gly)
c.599+5637A>G
c.1847A>G
c.5041+5637A>G (n.5041+5637A>G)
c.5021A>G (p.Asp1674Gly)
c.4973A>G (p.Asp1658Gly)
c.4931A>G (p.Asp1644Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132941501A>TCA372251662TGc.5192A>T (p.Asp1731Val)
c.599+5637A>T
c.1847A>T
c.5041+5637A>T (n.5041+5637A>T)
c.5021A>T (p.Asp1674Val)
c.4973A>T (p.Asp1658Val)
c.4931A>T (p.Asp1644Val)
8g.132941502T>ACA372251666TGc.5193T>A (p.Asp1731Glu)
c.599+5638T>A
c.1848T>A
c.5041+5638T>A (n.5041+5638T>A)
c.5022T>A (p.Asp1674Glu)
c.4974T>A (p.Asp1658Glu)
c.4932T>A (p.Asp1644Glu)
8g.132941502T>CCA463014053TGc.5193T>C (p.Asp1731=)
c.599+5638T>C
c.1848T>C
c.5041+5638T>C (n.5041+5638T>C)
c.5022T>C (p.Asp1674=)
c.4974T>C (p.Asp1658=)
c.4932T>C (p.Asp1644=)
8g.132941502T>GCA372251667TGc.5193T>G (p.Asp1731Glu)
c.599+5638T>G
c.1848T>G
c.5041+5638T>G (n.5041+5638T>G)
c.5022T>G (p.Asp1674Glu)
c.4974T>G (p.Asp1658Glu)
c.4932T>G (p.Asp1644Glu)
8g.132941503C>ACA372251668TGc.5194C>A (p.Leu1732Met)
c.599+5639C>A
c.1849C>A
c.5041+5639C>A (n.5041+5639C>A)
c.5023C>A (p.Leu1675Met)
c.4975C>A (p.Leu1659Met)
c.4933C>A (p.Leu1645Met)
8g.132941503C=CA1821019357TGc.5194C= (p.Leu1732=)
c.599+5639C=
c.1849C=
c.5041+5639C= (n.5041+5639C=)
c.5023C= (p.Leu1675=)
c.4975C= (p.Leu1659=)
c.4933C= (p.Leu1645=)
8g.132941503C>GCA372251669TGc.5194C>G (p.Leu1732Val)
c.599+5639C>G
c.1849C>G
c.5041+5639C>G (n.5041+5639C>G)
c.5023C>G (p.Leu1675Val)
c.4975C>G (p.Leu1659Val)
c.4933C>G (p.Leu1645Val)
8g.132941503C>TCA4884392TGc.5194C>T (p.Leu1732=)
c.599+5639C>T
c.1849C>T
c.5041+5639C>T (n.5041+5639C>T)
c.5023C>T (p.Leu1675=)
c.4975C>T (p.Leu1659=)
c.4933C>T (p.Leu1645=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941504T>ACA372251671TGc.5195T>A (p.Leu1732Gln)
c.599+5640T>A
c.1850T>A
c.5041+5640T>A (n.5041+5640T>A)
c.5024T>A (p.Leu1675Gln)
c.4976T>A (p.Leu1659Gln)
c.4934T>A (p.Leu1645Gln)
8g.132941504T>CCA372251672TGc.5195T>C (p.Leu1732Pro)
c.599+5640T>C
c.1850T>C
c.5041+5640T>C (n.5041+5640T>C)
c.5024T>C (p.Leu1675Pro)
c.4976T>C (p.Leu1659Pro)
c.4934T>C (p.Leu1645Pro)
8g.132941504T>GCA372251674TGc.5195T>G (p.Leu1732Arg)
c.599+5640T>G
c.1850T>G
c.5041+5640T>G (n.5041+5640T>G)
c.5024T>G (p.Leu1675Arg)
c.4976T>G (p.Leu1659Arg)
c.4934T>G (p.Leu1645Arg)
8g.132941505G>ACA4884393TGc.5196G>A (p.Leu1732=)
c.599+5641G>A
c.1851G>A
c.5041+5641G>A (n.5041+5641G>A)
c.5025G>A (p.Leu1675=)
c.4977G>A (p.Leu1659=)
c.4935G>A (p.Leu1645=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941505G>CCA463014055TGc.5196G>C (p.Leu1732=)
c.599+5641G>C
c.1851G>C
c.5041+5641G>C (n.5041+5641G>C)
c.5025G>C (p.Leu1675=)
c.4977G>C (p.Leu1659=)
c.4935G>C (p.Leu1645=)
8g.132941505G=CA1821019358TGc.5196G= (p.Leu1732=)
c.599+5641G=
c.1851G=
c.5041+5641G= (n.5041+5641G=)
c.5025G= (p.Leu1675=)
c.4977G= (p.Leu1659=)
c.4935G= (p.Leu1645=)
8g.132941505G>TCA463014056TGc.5196G>T (p.Leu1732=)
c.599+5641G>T
c.1851G>T
c.5041+5641G>T (n.5041+5641G>T)
c.5025G>T (p.Leu1675=)
c.4977G>T (p.Leu1659=)
c.4935G>T (p.Leu1645=)
8g.132941506T>ACA372251675TGc.5197T>A (p.Cys1733Ser)
c.599+5642T>A
c.1852T>A
c.5041+5642T>A (n.5041+5642T>A)
c.5026T>A (p.Cys1676Ser)
c.4978T>A (p.Cys1660Ser)
c.4936T>A (p.Cys1646Ser)
 gnomAD v4
8g.132941506T>CCA372251676TGc.5197T>C (p.Cys1733Arg)
c.599+5642T>C
c.1852T>C
c.5041+5642T>C (n.5041+5642T>C)
c.5026T>C (p.Cys1676Arg)
c.4978T>C (p.Cys1660Arg)
c.4936T>C (p.Cys1646Arg)
8g.132941506T>GCA372251677TGc.5197T>G (p.Cys1733Gly)
c.599+5642T>G
c.1852T>G
c.5041+5642T>G (n.5041+5642T>G)
c.5026T>G (p.Cys1676Gly)
c.4978T>G (p.Cys1660Gly)
c.4936T>G (p.Cys1646Gly)
8g.132941507G>ACA372251682TGc.5198G>A (p.Cys1733Tyr)
c.599+5643G>A
c.1853G>A
c.5041+5643G>A (n.5041+5643G>A)
c.5027G>A (p.Cys1676Tyr)
c.4979G>A (p.Cys1660Tyr)
c.4937G>A (p.Cys1646Tyr)
8g.132941507G>CCA372251681TGc.5198G>C (p.Cys1733Ser)
c.599+5643G>C
c.1853G>C
c.5041+5643G>C (n.5041+5643G>C)
c.5027G>C (p.Cys1676Ser)
c.4979G>C (p.Cys1660Ser)
c.4937G>C (p.Cys1646Ser)
8g.132941507G>TCA372251679TGc.5198G>T (p.Cys1733Phe)
c.599+5643G>T
c.1853G>T
c.5041+5643G>T (n.5041+5643G>T)
c.5027G>T (p.Cys1676Phe)
c.4979G>T (p.Cys1660Phe)
c.4937G>T (p.Cys1646Phe)
8g.132941508T>ACA372251684TGc.5199T>A (p.Cys1733Ter)
c.599+5644T>A
c.1854T>A
c.5041+5644T>A (n.5041+5644T>A)
c.5028T>A (p.Cys1676Ter)
c.4980T>A (p.Cys1660Ter)
c.4938T>A (p.Cys1646Ter)
8g.132941508T>CCA463014057TGc.5199T>C (p.Cys1733=)
c.599+5644T>C
c.1854T>C
c.5041+5644T>C (n.5041+5644T>C)
c.5028T>C (p.Cys1676=)
c.4980T>C (p.Cys1660=)
c.4938T>C (p.Cys1646=)
8g.132941508T>GCA372251685TGc.5199T>G (p.Cys1733Trp)
c.599+5644T>G
c.1854T>G
c.5041+5644T>G (n.5041+5644T>G)
c.5028T>G (p.Cys1676Trp)
c.4980T>G (p.Cys1660Trp)
c.4938T>G (p.Cys1646Trp)
8g.132941509T>ACA372251687TGc.5200T>A (p.Cys1734Ser)
c.599+5645T>A
c.1855T>A
c.5041+5645T>A (n.5041+5645T>A)
c.5029T>A (p.Cys1677Ser)
c.4981T>A (p.Cys1661Ser)
c.4939T>A (p.Cys1647Ser)
8g.132941509T>CCA372251688TGc.5200T>C (p.Cys1734Arg)
c.599+5645T>C
c.1855T>C
c.5041+5645T>C (n.5041+5645T>C)
c.5029T>C (p.Cys1677Arg)
c.4981T>C (p.Cys1661Arg)
c.4939T>C (p.Cys1647Arg)
8g.132941509T>GCA372251689TGc.5200T>G (p.Cys1734Gly)
c.599+5645T>G
c.1855T>G
c.5041+5645T>G (n.5041+5645T>G)
c.5029T>G (p.Cys1677Gly)
c.4981T>G (p.Cys1661Gly)
c.4939T>G (p.Cys1647Gly)
 gnomAD v4
8g.132941510G>ACA372251690TGc.5201G>A (p.Cys1734Tyr)
c.599+5646G>A
c.1856G>A
c.5041+5646G>A (n.5041+5646G>A)
c.5030G>A (p.Cys1677Tyr)
c.4982G>A (p.Cys1661Tyr)
c.4940G>A (p.Cys1647Tyr)
 dbSNP
8g.132941510G>CCA372251692TGc.5201G>C (p.Cys1734Ser)
c.599+5646G>C
c.1856G>C
c.5041+5646G>C (n.5041+5646G>C)
c.5030G>C (p.Cys1677Ser)
c.4982G>C (p.Cys1661Ser)
c.4940G>C (p.Cys1647Ser)
8g.132941510G=CA1821019359TGc.5201G= (p.Cys1734=)
c.599+5646G=
c.1856G=
c.5041+5646G= (n.5041+5646G=)
c.5030G= (p.Cys1677=)
c.4982G= (p.Cys1661=)
c.4940G= (p.Cys1647=)
8g.132941510G>TCA372251693TGc.5201G>T (p.Cys1734Phe)
c.599+5646G>T
c.1856G>T
c.5041+5646G>T (n.5041+5646G>T)
c.5030G>T (p.Cys1677Phe)
c.4982G>T (p.Cys1661Phe)
c.4940G>T (p.Cys1647Phe)
8g.132941511C>ACA372251694TGc.5202C>A (p.Cys1734Ter)
c.599+5647C>A
c.1857C>A
c.5041+5647C>A (n.5041+5647C>A)
c.5031C>A (p.Cys1677Ter)
c.4983C>A (p.Cys1661Ter)
c.4941C>A (p.Cys1647Ter)
 ClinVar
8g.132941511C=CA1821019360TGc.5202C= (p.Cys1734=)
c.599+5647C=
c.1857C=
c.5041+5647C= (n.5041+5647C=)
c.5031C= (p.Cys1677=)
c.4983C= (p.Cys1661=)
c.4941C= (p.Cys1647=)
8g.132941511C>GCA372251696TGc.5202C>G (p.Cys1734Trp)
c.599+5647C>G
c.1857C>G
c.5041+5647C>G (n.5041+5647C>G)
c.5031C>G (p.Cys1677Trp)
c.4983C>G (p.Cys1661Trp)
c.4941C>G (p.Cys1647Trp)
 dbSNP
8g.132941511C>TCA463014058TGc.5202C>T (p.Cys1734=)
c.599+5647C>T
c.1857C>T
c.5041+5647C>T (n.5041+5647C>T)
c.5031C>T (p.Cys1677=)
c.4983C>T (p.Cys1661=)
c.4941C>T (p.Cys1647=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.132941512G>ACA4884394TGc.5203G>A (p.Asp1735Asn)
c.599+5648G>A
c.1858G>A
c.5041+5648G>A (n.5041+5648G>A)
c.5032G>A (p.Asp1678Asn)
c.4984G>A (p.Asp1662Asn)
c.4942G>A (p.Asp1648Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941512G>CCA372251698TGc.5203G>C (p.Asp1735His)
c.599+5648G>C
c.1858G>C
c.5041+5648G>C (n.5041+5648G>C)
c.5032G>C (p.Asp1678His)
c.4984G>C (p.Asp1662His)
c.4942G>C (p.Asp1648His)
8g.132941512G=CA1821019361TGc.5203G= (p.Asp1735=)
c.599+5648G=
c.1858G=
c.5041+5648G= (n.5041+5648G=)
c.5032G= (p.Asp1678=)
c.4984G= (p.Asp1662=)
c.4942G= (p.Asp1648=)
8g.132941512G>TCA372251700TGc.5203G>T (p.Asp1735Tyr)
c.599+5648G>T
c.1858G>T
c.5041+5648G>T (n.5041+5648G>T)
c.5032G>T (p.Asp1678Tyr)
c.4984G>T (p.Asp1662Tyr)
c.4942G>T (p.Asp1648Tyr)
8g.132941513A>CCA372251704TGc.5204A>C (p.Asp1735Ala)
c.599+5649A>C
c.1859A>C
c.5041+5649A>C (n.5041+5649A>C)
c.5033A>C (p.Asp1678Ala)
c.4985A>C (p.Asp1662Ala)
c.4943A>C (p.Asp1648Ala)
8g.132941513A>GCA372251702TGc.5204A>G (p.Asp1735Gly)
c.599+5649A>G
c.1859A>G
c.5041+5649A>G (n.5041+5649A>G)
c.5033A>G (p.Asp1678Gly)
c.4985A>G (p.Asp1662Gly)
c.4943A>G (p.Asp1648Gly)
8g.132941513A>TCA372251701TGc.5204A>T (p.Asp1735Val)
c.599+5649A>T
c.1859A>T
c.5041+5649A>T (n.5041+5649A>T)
c.5033A>T (p.Asp1678Val)
c.4985A>T (p.Asp1662Val)
c.4943A>T (p.Asp1648Val)
8g.132941514T>ACA372251706TGc.5205T>A (p.Asp1735Glu)
c.599+5650T>A
c.1860T>A
c.5041+5650T>A (n.5041+5650T>A)
c.5034T>A (p.Asp1678Glu)
c.4986T>A (p.Asp1662Glu)
c.4944T>A (p.Asp1648Glu)
8g.132941514T>CCA463014059TGc.5205T>C (p.Asp1735=)
c.599+5650T>C
c.1860T>C
c.5041+5650T>C (n.5041+5650T>C)
c.5034T>C (p.Asp1678=)
c.4986T>C (p.Asp1662=)
c.4944T>C (p.Asp1648=)
 gnomAD v4
8g.132941514T>GCA372251707TGc.5205T>G (p.Asp1735Glu)
c.599+5650T>G
c.1860T>G
c.5041+5650T>G (n.5041+5650T>G)
c.5034T>G (p.Asp1678Glu)
c.4986T>G (p.Asp1662Glu)
c.4944T>G (p.Asp1648Glu)
8g.132941515G>ACA372251709TGc.5206G>A (p.Gly1736Ser)
c.599+5651G>A
c.1861G>A
c.5041+5651G>A (n.5041+5651G>A)
c.5035G>A (p.Gly1679Ser)
c.4987G>A (p.Gly1663Ser)
c.4945G>A (p.Gly1649Ser)
8g.132941515G>CCA372251710TGc.5206G>C (p.Gly1736Arg)
c.599+5651G>C
c.1861G>C
c.5041+5651G>C (n.5041+5651G>C)
c.5035G>C (p.Gly1679Arg)
c.4987G>C (p.Gly1663Arg)
c.4945G>C (p.Gly1649Arg)
8g.132941515G>TCA372251711TGc.5206G>T (p.Gly1736Cys)
c.599+5651G>T
c.1861G>T
c.5041+5651G>T (n.5041+5651G>T)
c.5035G>T (p.Gly1679Cys)
c.4987G>T (p.Gly1663Cys)
c.4945G>T (p.Gly1649Cys)
8g.132941516G>ACA372251712TGc.5207G>A (p.Gly1736Asp)
c.599+5652G>A
c.1862G>A
c.5041+5652G>A (n.5041+5652G>A)
c.5036G>A (p.Gly1679Asp)
c.4988G>A (p.Gly1663Asp)
c.4946G>A (p.Gly1649Asp)
8g.132941516G>CCA372251713TGc.5207G>C (p.Gly1736Ala)
c.599+5652G>C
c.1862G>C
c.5041+5652G>C (n.5041+5652G>C)
c.5036G>C (p.Gly1679Ala)
c.4988G>C (p.Gly1663Ala)
c.4946G>C (p.Gly1649Ala)
8g.132941516G>TCA372251715TGc.5207G>T (p.Gly1736Val)
c.599+5652G>T
c.1862G>T
c.5041+5652G>T (n.5041+5652G>T)
c.5036G>T (p.Gly1679Val)
c.4988G>T (p.Gly1663Val)
c.4946G>T (p.Gly1649Val)
8g.132941517C>ACA463014060TGc.5208C>A (p.Gly1736=)
c.599+5653C>A
c.1863C>A
c.5041+5653C>A (n.5041+5653C>A)
c.5037C>A (p.Gly1679=)
c.4989C>A (p.Gly1663=)
c.4947C>A (p.Gly1649=)
8g.132941517C>GCA463014062TGc.5208C>G (p.Gly1736=)
c.599+5653C>G
c.1863C>G
c.5041+5653C>G (n.5041+5653C>G)
c.5037C>G (p.Gly1679=)
c.4989C>G (p.Gly1663=)
c.4947C>G (p.Gly1649=)
8g.132941517C>TCA463014061TGc.5208C>T (p.Gly1736=)
c.599+5653C>T
c.1863C>T
c.5041+5653C>T (n.5041+5653C>T)
c.5037C>T (p.Gly1679=)
c.4989C>T (p.Gly1663=)
c.4947C>T (p.Gly1649=)
8g.132941518T>ACA372251717TGc.5209T>A (p.Phe1737Ile)
c.599+5654T>A
c.1864T>A
c.5041+5654T>A (n.5041+5654T>A)
c.5038T>A (p.Phe1680Ile)
c.4990T>A (p.Phe1664Ile)
c.4948T>A (p.Phe1650Ile)
8g.132941518T>CCA372251719TGc.5209T>C (p.Phe1737Leu)
c.599+5654T>C
c.1864T>C
c.5041+5654T>C (n.5041+5654T>C)
c.5038T>C (p.Phe1680Leu)
c.4990T>C (p.Phe1664Leu)
c.4948T>C (p.Phe1650Leu)
8g.132941518T>GCA372251720TGc.5209T>G (p.Phe1737Val)
c.599+5654T>G
c.1864T>G
c.5041+5654T>G (n.5041+5654T>G)
c.5038T>G (p.Phe1680Val)
c.4990T>G (p.Phe1664Val)
c.4948T>G (p.Phe1650Val)
8g.132941519T>ACA372251722TGc.5210T>A (p.Phe1737Tyr)
c.599+5655T>A
c.1865T>A
c.5041+5655T>A (n.5041+5655T>A)
c.5039T>A (p.Phe1680Tyr)
c.4991T>A (p.Phe1664Tyr)
c.4949T>A (p.Phe1650Tyr)
8g.132941519T>CCA4884395TGc.5210T>C (p.Phe1737Ser)
c.599+5655T>C
c.1865T>C
c.5041+5655T>C (n.5041+5655T>C)
c.5039T>C (p.Phe1680Ser)
c.4991T>C (p.Phe1664Ser)
c.4949T>C (p.Phe1650Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941519T>GCA372251724TGc.5210T>G (p.Phe1737Cys)
c.599+5655T>G
c.1865T>G
c.5041+5655T>G (n.5041+5655T>G)
c.5039T>G (p.Phe1680Cys)
c.4991T>G (p.Phe1664Cys)
c.4949T>G (p.Phe1650Cys)
8g.132941519T=CA1821019362TGc.5210T= (p.Phe1737=)
c.599+5655T=
c.1865T=
c.5041+5655T= (n.5041+5655T=)
c.5039T= (p.Phe1680=)
c.4991T= (p.Phe1664=)
c.4949T= (p.Phe1650=)
8g.132941520C>ACA372251725TGc.5211C>A (p.Phe1737Leu)
c.599+5656C>A
c.1866C>A
c.5041+5656C>A (n.5041+5656C>A)
c.5040C>A (p.Phe1680Leu)
c.4992C>A (p.Phe1664Leu)
c.4950C>A (p.Phe1650Leu)
8g.132941520C=CA1821019363TGc.5211C= (p.Phe1737=)
c.599+5656C=
c.1866C=
c.5041+5656C= (n.5041+5656C=)
c.5040C= (p.Phe1680=)
c.4992C= (p.Phe1664=)
c.4950C= (p.Phe1650=)
8g.132941520C>GCA372251727TGc.5211C>G (p.Phe1737Leu)
c.599+5656C>G
c.1866C>G
c.5041+5656C>G (n.5041+5656C>G)
c.5040C>G (p.Phe1680Leu)
c.4992C>G (p.Phe1664Leu)
c.4950C>G (p.Phe1650Leu)
8g.132941520C>TCA4884396TGc.5211C>T (p.Phe1737=)
c.599+5656C>T
c.1866C>T
c.5041+5656C>T (n.5041+5656C>T)
c.5040C>T (p.Phe1680=)
c.4992C>T (p.Phe1664=)
c.4950C>T (p.Phe1650=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941521G>ACA4884397TGc.5212G>A (p.Val1738Ile)
c.599+5657G>A
c.1867G>A
c.5041+5657G>A (n.5041+5657G>A)
c.5041G>A (p.Val1681Ile)
c.4993G>A (p.Val1665Ile)
c.4951G>A (p.Val1651Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941521G>CCA372251729TGc.5212G>C (p.Val1738Leu)
c.599+5657G>C
c.1867G>C
c.5041+5657G>C (n.5041+5657G>C)
c.5041G>C (p.Val1681Leu)
c.4993G>C (p.Val1665Leu)
c.4951G>C (p.Val1651Leu)
8g.132941521G=CA1821019364TGc.5212G= (p.Val1738=)
c.599+5657G=
c.1867G=
c.5041+5657G= (n.5041+5657G=)
c.5041G= (p.Val1681=)
c.4993G= (p.Val1665=)
c.4951G= (p.Val1651=)
8g.132941521G>TCA372251730TGc.5212G>T (p.Val1738Phe)
c.599+5657G>T
c.1867G>T
c.5041+5657G>T (n.5041+5657G>T)
c.5041G>T (p.Val1681Phe)
c.4993G>T (p.Val1665Phe)
c.4951G>T (p.Val1651Phe)
8g.132941522T>ACA372251732TGc.5213T>A (p.Val1738Asp)
c.599+5658T>A
c.1868T>A
c.5041+5658T>A (n.5041+5658T>A)
c.5042T>A (p.Val1681Asp)
c.4994T>A (p.Val1665Asp)
c.4952T>A (p.Val1651Asp)
8g.132941522T>CCA372251733TGc.5213T>C (p.Val1738Ala)
c.599+5658T>C
c.1868T>C
c.5041+5658T>C (n.5041+5658T>C)
c.5042T>C (p.Val1681Ala)
c.4994T>C (p.Val1665Ala)
c.4952T>C (p.Val1651Ala)
8g.132941522T>GCA372251735TGc.5213T>G (p.Val1738Gly)
c.599+5658T>G
c.1868T>G
c.5041+5658T>G (n.5041+5658T>G)
c.5042T>G (p.Val1681Gly)
c.4994T>G (p.Val1665Gly)
c.4952T>G (p.Val1651Gly)
8g.132941523C>ACA463014063TGc.5214C>A (p.Val1738=)
c.599+5659C>A
c.1869C>A
c.5041+5659C>A (n.5041+5659C>A)
c.5043C>A (p.Val1681=)
c.4995C>A (p.Val1665=)
c.4953C>A (p.Val1651=)
 COSMIC
8g.132941523C=CA1821019365TGc.5214C= (p.Val1738=)
c.599+5659C=
c.1869C=
c.5041+5659C= (n.5041+5659C=)
c.5043C= (p.Val1681=)
c.4995C= (p.Val1665=)
c.4953C= (p.Val1651=)
8g.132941523C>GCA463014064TGc.5214C>G (p.Val1738=)
c.599+5659C>G
c.1869C>G
c.5041+5659C>G (n.5041+5659C>G)
c.5043C>G (p.Val1681=)
c.4995C>G (p.Val1665=)
c.4953C>G (p.Val1651=)
8g.132941523C>TCA463014065TGc.5214C>T (p.Val1738=)
c.599+5659C>T
c.1869C>T
c.5041+5659C>T (n.5041+5659C>T)
c.5043C>T (p.Val1681=)
c.4995C>T (p.Val1665=)
c.4953C>T (p.Val1651=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132941524C>ACA372251737TGc.5215C>A (p.Leu1739Ile)
c.599+5660C>A
c.1870C>A
c.5041+5660C>A (n.5041+5660C>A)
c.5044C>A (p.Leu1682Ile)
c.4996C>A (p.Leu1666Ile)
c.4954C>A (p.Leu1652Ile)
 gnomAD v4
8g.132941524C=CA1821019366TGc.5215C= (p.Leu1739=)
c.599+5660C=
c.1870C=
c.5041+5660C= (n.5041+5660C=)
c.5044C= (p.Leu1682=)
c.4996C= (p.Leu1666=)
c.4954C= (p.Leu1652=)
8g.132941524C>GCA372251738TGc.5215C>G (p.Leu1739Val)
c.599+5660C>G
c.1870C>G
c.5041+5660C>G (n.5041+5660C>G)
c.5044C>G (p.Leu1682Val)
c.4996C>G (p.Leu1666Val)
c.4954C>G (p.Leu1652Val)
8g.132941524C>TCA4884398TGc.5215C>T (p.Leu1739Phe)
c.599+5660C>T
c.1870C>T
c.5041+5660C>T (n.5041+5660C>T)
c.5044C>T (p.Leu1682Phe)
c.4996C>T (p.Leu1666Phe)
c.4954C>T (p.Leu1652Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941525T>ACA372251740TGc.5216T>A (p.Leu1739His)
c.599+5661T>A
c.1871T>A
c.5041+5661T>A (n.5041+5661T>A)
c.5045T>A (p.Leu1682His)
c.4997T>A (p.Leu1666His)
c.4955T>A (p.Leu1652His)
8g.132941525T>CCA372251741TGc.5216T>C (p.Leu1739Pro)
c.599+5661T>C
c.1871T>C
c.5041+5661T>C (n.5041+5661T>C)
c.5045T>C (p.Leu1682Pro)
c.4997T>C (p.Leu1666Pro)
c.4955T>C (p.Leu1652Pro)
8g.132941525T>GCA372251743TGc.5216T>G (p.Leu1739Arg)
c.599+5661T>G
c.1871T>G
c.5041+5661T>G (n.5041+5661T>G)
c.5045T>G (p.Leu1682Arg)
c.4997T>G (p.Leu1666Arg)
c.4955T>G (p.Leu1652Arg)
8g.132941525_132941527delinsTCACA1821019367TGc.5216_5218delinsTCA (p.Leu1739=)
c.599+5661_599+5663delinsTCA
c.1871_1873delinsTCA
c.5041+5661_5041+5663delinsTCA (n.5041+5661_5041+5663delinsTCA)
c.5045_5047delinsTCA (p.Leu1682=)
c.4997_4999delinsTCA (p.Leu1666=)
c.4955_4957delinsTCA (p.Leu1652=)
8g.132941526C>ACA463014067TGc.5217C>A (p.Leu1739=)
c.599+5662C>A
c.1872C>A
c.5041+5662C>A (n.5041+5662C>A)
c.5046C>A (p.Leu1682=)
c.4998C>A (p.Leu1666=)
c.4956C>A (p.Leu1652=)
8g.132941526C>GCA463014068TGc.5217C>G (p.Leu1739=)
c.599+5662C>G
c.1872C>G
c.5041+5662C>G (n.5041+5662C>G)
c.5046C>G (p.Leu1682=)
c.4998C>G (p.Leu1666=)
c.4956C>G (p.Leu1652=)
8g.132941526C>TCA463014070TGc.5217C>T (p.Leu1739=)
c.599+5662C>T
c.1872C>T
c.5041+5662C>T (n.5041+5662C>T)
c.5046C>T (p.Leu1682=)
c.4998C>T (p.Leu1666=)
c.4956C>T (p.Leu1652=)
 gnomAD v4
8g.132941530_132941531delCA585277673TGc.5221_5222del (p.Gln1741GlyfsTer20)
c.599+5666_599+5667del
c.1876_1877del
c.5041+5666_5041+5667del (n.5041+5666_5041+5667del)
c.5050_5051del (p.Gln1684GlyfsTer20)
c.5002_5003del (p.Gln1668GlyfsTer20)
c.4960_4961del (p.Gln1654GlyfsTer20)
 dbSNP gnomAD v2 gnomAD v4
8g.132941527A>CCA372251747TGc.5218A>C (p.Thr1740Pro)
c.599+5663A>C
c.1873A>C
c.5041+5663A>C (n.5041+5663A>C)
c.5047A>C (p.Thr1683Pro)
c.4999A>C (p.Thr1667Pro)
c.4957A>C (p.Thr1653Pro)
8g.132941527A>GCA372251744TGc.5218A>G (p.Thr1740Ala)
c.599+5663A>G
c.1873A>G
c.5041+5663A>G (n.5041+5663A>G)
c.5047A>G (p.Thr1683Ala)
c.4999A>G (p.Thr1667Ala)
c.4957A>G (p.Thr1653Ala)
8g.132941527A>TCA372251746TGc.5218A>T (p.Thr1740Ser)
c.599+5663A>T
c.1873A>T
c.5041+5663A>T (n.5041+5663A>T)
c.5047A>T (p.Thr1683Ser)
c.4999A>T (p.Thr1667Ser)
c.4957A>T (p.Thr1653Ser)
8g.132941528C>ACA4884399TGc.5219C>A (p.Thr1740Lys)
c.599+5664C>A
c.1874C>A
c.5041+5664C>A (n.5041+5664C>A)
c.5048C>A (p.Thr1683Lys)
c.5000C>A (p.Thr1667Lys)
c.4958C>A (p.Thr1653Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941528C=CA1821019368TGc.5219C= (p.Thr1740=)
c.599+5664C=
c.1874C=
c.5041+5664C= (n.5041+5664C=)
c.5048C= (p.Thr1683=)
c.5000C= (p.Thr1667=)
c.4958C= (p.Thr1653=)
8g.132941528C>GCA372251749TGc.5219C>G (p.Thr1740Arg)
c.599+5664C>G
c.1874C>G
c.5041+5664C>G (n.5041+5664C>G)
c.5048C>G (p.Thr1683Arg)
c.5000C>G (p.Thr1667Arg)
c.4958C>G (p.Thr1653Arg)
8g.132941528C>TCA372251751TGc.5219C>T (p.Thr1740Ile)
c.599+5664C>T
c.1874C>T
c.5041+5664C>T (n.5041+5664C>T)
c.5048C>T (p.Thr1683Ile)
c.5000C>T (p.Thr1667Ile)
c.4958C>T (p.Thr1653Ile)
 gnomAD v4
8g.132941529A>CCA463014071TGc.5220A>C (p.Thr1740=)
c.599+5665A>C
c.1875A>C
c.5041+5665A>C (n.5041+5665A>C)
c.5049A>C (p.Thr1683=)
c.5001A>C (p.Thr1667=)
c.4959A>C (p.Thr1653=)
8g.132941529A>GCA463014073TGc.5220A>G (p.Thr1740=)
c.599+5665A>G
c.1875A>G
c.5041+5665A>G (n.5041+5665A>G)
c.5049A>G (p.Thr1683=)
c.5001A>G (p.Thr1667=)
c.4959A>G (p.Thr1653=)
8g.132941529A>TCA463014072TGc.5220A>T (p.Thr1740=)
c.599+5665A>T
c.1875A>T
c.5041+5665A>T (n.5041+5665A>T)
c.5049A>T (p.Thr1683=)
c.5001A>T (p.Thr1667=)
c.4959A>T (p.Thr1653=)
8g.132941530C>ACA372251752TGc.5221C>A (p.Gln1741Lys)
c.599+5666C>A
c.1876C>A
c.5041+5666C>A (n.5041+5666C>A)
c.5050C>A (p.Gln1684Lys)
c.5002C>A (p.Gln1668Lys)
c.4960C>A (p.Gln1654Lys)
8g.132941530C=CA1821019369TGc.5221C= (p.Gln1741=)
c.599+5666C=
c.1876C=
c.5041+5666C= (n.5041+5666C=)
c.5050C= (p.Gln1684=)
c.5002C= (p.Gln1668=)
c.4960C= (p.Gln1654=)
8g.132941530C>GCA372251754TGc.5221C>G (p.Gln1741Glu)
c.599+5666C>G
c.1876C>G
c.5041+5666C>G (n.5041+5666C>G)
c.5050C>G (p.Gln1684Glu)
c.5002C>G (p.Gln1668Glu)
c.4960C>G (p.Gln1654Glu)
8g.132941530C>TCA372251756TGc.5221C>T (p.Gln1741Ter)
c.599+5666C>T
c.1876C>T
c.5041+5666C>T (n.5041+5666C>T)
c.5050C>T (p.Gln1684Ter)
c.5002C>T (p.Gln1668Ter)
c.4960C>T (p.Gln1654Ter)
 dbSNP
8g.132941531A=CA1821019370TGc.5222A= (p.Gln1741=)
c.599+5667A=
c.1877A=
c.5041+5667A= (n.5041+5667A=)
c.5051A= (p.Gln1684=)
c.5003A= (p.Gln1668=)
c.4961A= (p.Gln1654=)
8g.132941531A>CCA372251757TGc.5222A>C (p.Gln1741Pro)
c.599+5667A>C
c.1877A>C
c.5041+5667A>C (n.5041+5667A>C)
c.5051A>C (p.Gln1684Pro)
c.5003A>C (p.Gln1668Pro)
c.4961A>C (p.Gln1654Pro)
8g.132941531A>GCA372251758TGc.5222A>G (p.Gln1741Arg)
c.599+5667A>G
c.1877A>G
c.5041+5667A>G (n.5041+5667A>G)
c.5051A>G (p.Gln1684Arg)
c.5003A>G (p.Gln1668Arg)
c.4961A>G (p.Gln1654Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.132941531A>TCA372251759TGc.5222A>T (p.Gln1741Leu)
c.599+5667A>T
c.1877A>T
c.5041+5667A>T (n.5041+5667A>T)
c.5051A>T (p.Gln1684Leu)
c.5003A>T (p.Gln1668Leu)
c.4961A>T (p.Gln1654Leu)
8g.132941532G>ACA463014074TGc.5223G>A (p.Gln1741=)
c.599+5668G>A
c.1878G>A
c.5041+5668G>A (n.5041+5668G>A)
c.5052G>A (p.Gln1684=)
c.5004G>A (p.Gln1668=)
c.4962G>A (p.Gln1654=)
 gnomAD v4
8g.132941532G>CCA372251760TGc.5223G>C (p.Gln1741His)
c.599+5668G>C
c.1878G>C
c.5041+5668G>C (n.5041+5668G>C)
c.5052G>C (p.Gln1684His)
c.5004G>C (p.Gln1668His)
c.4962G>C (p.Gln1654His)
 COSMIC
8g.132941532G>TCA372251762TGc.5223G>T (p.Gln1741His)
c.599+5668G>T
c.1878G>T
c.5041+5668G>T (n.5041+5668G>T)
c.5052G>T (p.Gln1684His)
c.5004G>T (p.Gln1668His)
c.4962G>T (p.Gln1654His)
8g.132941533G>ACA4884400TGc.5224G>A (p.Val1742Ile)
c.599+5669G>A
c.1879G>A
c.5041+5669G>A (n.5041+5669G>A)
c.5053G>A (p.Val1685Ile)
c.5005G>A (p.Val1669Ile)
c.4963G>A (p.Val1655Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941533G>CCA372251765TGc.5224G>C (p.Val1742Leu)
c.599+5669G>C
c.1879G>C
c.5041+5669G>C (n.5041+5669G>C)
c.5053G>C (p.Val1685Leu)
c.5005G>C (p.Val1669Leu)
c.4963G>C (p.Val1655Leu)
 gnomAD v4
8g.132941533G=CA1821019371TGc.5224G= (p.Val1742=)
c.599+5669G=
c.1879G=
c.5041+5669G= (n.5041+5669G=)
c.5053G= (p.Val1685=)
c.5005G= (p.Val1669=)
c.4963G= (p.Val1655=)
8g.132941533G>TCA372251763TGc.5224G>T (p.Val1742Phe)
c.599+5669G>T
c.1879G>T
c.5041+5669G>T (n.5041+5669G>T)
c.5053G>T (p.Val1685Phe)
c.5005G>T (p.Val1669Phe)
c.4963G>T (p.Val1655Phe)
8g.132941534T>ACA372251767TGc.5225T>A (p.Val1742Asp)
c.599+5670T>A
c.1880T>A
c.5041+5670T>A (n.5041+5670T>A)
c.5054T>A (p.Val1685Asp)
c.5006T>A (p.Val1669Asp)
c.4964T>A (p.Val1655Asp)
8g.132941534T>CCA372251771TGc.5225T>C (p.Val1742Ala)
c.599+5670T>C
c.1880T>C
c.5041+5670T>C (n.5041+5670T>C)
c.5054T>C (p.Val1685Ala)
c.5006T>C (p.Val1669Ala)
c.4964T>C (p.Val1655Ala)
 COSMIC
8g.132941534T>GCA372251769TGc.5225T>G (p.Val1742Gly)
c.599+5670T>G
c.1880T>G
c.5041+5670T>G (n.5041+5670T>G)
c.5054T>G (p.Val1685Gly)
c.5006T>G (p.Val1669Gly)
c.4964T>G (p.Val1655Gly)
8g.132941535T>ACA463014076TGc.5226T>A (p.Val1742=)
c.599+5671T>A
c.1881T>A
c.5041+5671T>A (n.5041+5671T>A)
c.5055T>A (p.Val1685=)
c.5007T>A (p.Val1669=)
c.4965T>A (p.Val1655=)
8g.132941535T>CCA4884401TGc.5226T>C (p.Val1742=)
c.599+5671T>C
c.1881T>C
c.5041+5671T>C (n.5041+5671T>C)
c.5055T>C (p.Val1685=)
c.5007T>C (p.Val1669=)
c.4965T>C (p.Val1655=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941535T>GCA463014077TGc.5226T>G (p.Val1742=)
c.599+5671T>G
c.1881T>G
c.5041+5671T>G (n.5041+5671T>G)
c.5055T>G (p.Val1685=)
c.5007T>G (p.Val1669=)
c.4965T>G (p.Val1655=)
 ClinVar
8g.132941535T=CA1821019372TGc.5226T= (p.Val1742=)
c.599+5671T=
c.1881T=
c.5041+5671T= (n.5041+5671T=)
c.5055T= (p.Val1685=)
c.5007T= (p.Val1669=)
c.4965T= (p.Val1655=)
8g.132941536C>ACA372251775TGc.5227C>A (p.Gln1743Lys)
c.599+5672C>A
c.1882C>A
c.5041+5672C>A (n.5041+5672C>A)
c.5056C>A (p.Gln1686Lys)
c.5008C>A (p.Gln1670Lys)
c.4966C>A (p.Gln1656Lys)
8g.132941536C=CA1821019373TGc.5227C= (p.Gln1743=)
c.599+5672C=
c.1882C=
c.5041+5672C= (n.5041+5672C=)
c.5056C= (p.Gln1686=)
c.5008C= (p.Gln1670=)
c.4966C= (p.Gln1656=)
8g.132941536C>GCA372251773TGc.5227C>G (p.Gln1743Glu)
c.599+5672C>G
c.1882C>G
c.5041+5672C>G (n.5041+5672C>G)
c.5056C>G (p.Gln1686Glu)
c.5008C>G (p.Gln1670Glu)
c.4966C>G (p.Gln1656Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.132941536C>TCA372251774TGc.5227C>T (p.Gln1743Ter)
c.599+5672C>T
c.1882C>T
c.5041+5672C>T (n.5041+5672C>T)
c.5056C>T (p.Gln1686Ter)
c.5008C>T (p.Gln1670Ter)
c.4966C>T (p.Gln1656Ter)
 gnomAD v4
8g.132941537A>CCA372251777TGc.5228A>C (p.Gln1743Pro)
c.599+5673A>C
c.1883A>C
c.5041+5673A>C (n.5041+5673A>C)
c.5057A>C (p.Gln1686Pro)
c.5009A>C (p.Gln1670Pro)
c.4967A>C (p.Gln1656Pro)
8g.132941537A>GCA372251779TGc.5228A>G (p.Gln1743Arg)
c.599+5673A>G
c.1883A>G
c.5041+5673A>G (n.5041+5673A>G)
c.5057A>G (p.Gln1686Arg)
c.5009A>G (p.Gln1670Arg)
c.4967A>G (p.Gln1656Arg)
8g.132941537A>TCA372251780TGc.5228A>T (p.Gln1743Leu)
c.599+5673A>T
c.1883A>T
c.5041+5673A>T (n.5041+5673A>T)
c.5057A>T (p.Gln1686Leu)
c.5009A>T (p.Gln1670Leu)
c.4967A>T (p.Gln1656Leu)
8g.132941538A=CA1821019374TGc.5229A= (p.Gln1743=)
c.599+5674A=
c.1884A=
c.5041+5674A= (n.5041+5674A=)
c.5058A= (p.Gln1686=)
c.5010A= (p.Gln1670=)
c.4968A= (p.Gln1656=)
8g.132941538A>CCA372251781TGc.5229A>C (p.Gln1743His)
c.599+5674A>C
c.1884A>C
c.5041+5674A>C (n.5041+5674A>C)
c.5058A>C (p.Gln1686His)
c.5010A>C (p.Gln1670His)
c.4968A>C (p.Gln1656His)
8g.132941538A>GCA463014078TGc.5229A>G (p.Gln1743=)
c.599+5674A>G
c.1884A>G
c.5041+5674A>G (n.5041+5674A>G)
c.5058A>G (p.Gln1686=)
c.5010A>G (p.Gln1670=)
c.4968A>G (p.Gln1656=)
 dbSNP gnomAD v2 gnomAD v4
8g.132941538A>TCA372251783TGc.5229A>T (p.Gln1743His)
c.599+5674A>T
c.1884A>T
c.5041+5674A>T (n.5041+5674A>T)
c.5058A>T (p.Gln1686His)
c.5010A>T (p.Gln1670His)
c.4968A>T (p.Gln1656His)
8g.132941539G>ACA372251785TGc.5230G>A (p.Gly1744Arg)
c.599+5675G>A
c.1885G>A
c.5041+5675G>A (n.5041+5675G>A)
c.5059G>A (p.Gly1687Arg)
c.5011G>A (p.Gly1671Arg)
c.4969G>A (p.Gly1657Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132941539G>CCA372251800TGc.5230G>C (p.Gly1744Arg)
c.599+5675G>C
c.1885G>C
c.5041+5675G>C (n.5041+5675G>C)
c.5059G>C (p.Gly1687Arg)
c.5011G>C (p.Gly1671Arg)
c.4969G>C (p.Gly1657Arg)
8g.132941539G=CA1821019375TGc.5230G= (p.Gly1744=)
c.599+5675G=
c.1885G=
c.5041+5675G= (n.5041+5675G=)
c.5059G= (p.Gly1687=)
c.5011G= (p.Gly1671=)
c.4969G= (p.Gly1657=)
8g.132941539G>TCA372251801TGc.5230G>T (p.Gly1744Ter)
c.599+5675G>T
c.1885G>T
c.5041+5675G>T (n.5041+5675G>T)
c.5059G>T (p.Gly1687Ter)
c.5011G>T (p.Gly1671Ter)
c.4969G>T (p.Gly1657Ter)
8g.132941540G>ACA372251803TGc.5231G>A (p.Gly1744Glu)
c.599+5676G>A
c.1886G>A
c.5041+5676G>A (n.5041+5676G>A)
c.5060G>A (p.Gly1687Glu)
c.5012G>A (p.Gly1671Glu)
c.4970G>A (p.Gly1657Glu)
8g.132941540G>CCA372251804TGc.5231G>C (p.Gly1744Ala)
c.599+5676G>C
c.1886G>C
c.5041+5676G>C (n.5041+5676G>C)
c.5060G>C (p.Gly1687Ala)
c.5012G>C (p.Gly1671Ala)
c.4970G>C (p.Gly1657Ala)
8g.132941540G>TCA372251810TGc.5231G>T (p.Gly1744Val)
c.599+5676G>T
c.1886G>T
c.5041+5676G>T (n.5041+5676G>T)
c.5060G>T (p.Gly1687Val)
c.5012G>T (p.Gly1671Val)
c.4970G>T (p.Gly1657Val)
 gnomAD v4
8g.132941541A>CCA463014079TGc.5232A>C (p.Gly1744=)
c.599+5677A>C
c.1887A>C
c.5041+5677A>C (n.5041+5677A>C)
c.5061A>C (p.Gly1687=)
c.5013A>C (p.Gly1671=)
c.4971A>C (p.Gly1657=)
8g.132941541A>GCA463014080TGc.5232A>G (p.Gly1744=)
c.599+5677A>G
c.1887A>G
c.5041+5677A>G (n.5041+5677A>G)
c.5061A>G (p.Gly1687=)
c.5013A>G (p.Gly1671=)
c.4971A>G (p.Gly1657=)
8g.132941541A>TCA463014081TGc.5232A>T (p.Gly1744=)
c.599+5677A>T
c.1887A>T
c.5041+5677A>T (n.5041+5677A>T)
c.5061A>T (p.Gly1687=)
c.5013A>T (p.Gly1671=)
c.4971A>T (p.Gly1657=)
8g.132941542G>ACA4884402TGc.5233G>A (p.Gly1745Ser)
c.599+5678G>A
c.1888G>A
c.5041+5678G>A (n.5041+5678G>A)
c.5062G>A (p.Gly1688Ser)
c.5014G>A (p.Gly1672Ser)
c.4972G>A (p.Gly1658Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941542G>CCA372251813TGc.5233G>C (p.Gly1745Arg)
c.599+5678G>C
c.1888G>C
c.5041+5678G>C (n.5041+5678G>C)
c.5062G>C (p.Gly1688Arg)
c.5014G>C (p.Gly1672Arg)
c.4972G>C (p.Gly1658Arg)
 gnomAD v4
8g.132941542G=CA1821019376TGc.5233G= (p.Gly1745=)
c.599+5678G=
c.1888G=
c.5041+5678G= (n.5041+5678G=)
c.5062G= (p.Gly1688=)
c.5014G= (p.Gly1672=)
c.4972G= (p.Gly1658=)
8g.132941542G>TCA372251812TGc.5233G>T (p.Gly1745Cys)
c.599+5678G>T
c.1888G>T
c.5041+5678G>T (n.5041+5678G>T)
c.5062G>T (p.Gly1688Cys)
c.5014G>T (p.Gly1672Cys)
c.4972G>T (p.Gly1658Cys)
8g.132941543G>ACA372251816TGc.5233+1G>A (n.5233+1G>A)
c.599+5679G>A
c.1888+1G>A
c.5041+5679G>A (n.5041+5679G>A)
c.5062+1G>A (n.5062+1G>A)
c.5014+1G>A (n.5014+1G>A)
c.4972+1G>A (n.4972+1G>A)
8g.132941543G>CCA372251817TGc.5233+1G>C (n.5233+1G>C)
c.599+5679G>C
c.1888+1G>C
c.5041+5679G>C (n.5041+5679G>C)
c.5062+1G>C (n.5062+1G>C)
c.5014+1G>C (n.5014+1G>C)
c.4972+1G>C (n.4972+1G>C)
8g.132941543G=CA1821019377TGc.5233+1G= (n.5233+1G=)
c.599+5679G=
c.1888+1G=
c.5041+5679G= (n.5041+5679G=)
c.5062+1G= (n.5062+1G=)
c.5014+1G= (n.5014+1G=)
c.4972+1G= (n.4972+1G=)
8g.132941543G>TCA4884403TGc.5233+1G>T (n.5233+1G>T)
c.599+5679G>T
c.1888+1G>T
c.5041+5679G>T (n.5041+5679G>T)
c.5062+1G>T (n.5062+1G>T)
c.5014+1G>T (n.5014+1G>T)
c.4972+1G>T (n.4972+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941544T>ACA372251819TGc.5233+2T>A (n.5233+2T>A)
c.599+5680T>A
c.1888+2T>A
c.5041+5680T>A (n.5041+5680T>A)
c.5062+2T>A (n.5062+2T>A)
c.5014+2T>A (n.5014+2T>A)
c.4972+2T>A (n.4972+2T>A)
8g.132941544T>CCA372251820TGc.5233+2T>C (n.5233+2T>C)
c.599+5680T>C
c.1888+2T>C
c.5041+5680T>C (n.5041+5680T>C)
c.5062+2T>C (n.5062+2T>C)
c.5014+2T>C (n.5014+2T>C)
c.4972+2T>C (n.4972+2T>C)
8g.132941544T>GCA372251821TGc.5233+2T>G (n.5233+2T>G)
c.599+5680T>G
c.1888+2T>G
c.5041+5680T>G (n.5041+5680T>G)
c.5062+2T>G (n.5062+2T>G)
c.5014+2T>G (n.5014+2T>G)
c.4972+2T>G (n.4972+2T>G)
8g.132941546_132941549delinsATGTCA1821019378TGc.5233+4_5233+7delinsATGT (n.5233+4_5233+7delinsATGT)
c.599+5682_599+5685delinsATGT
c.1888+4_1888+7delinsATGT
c.5041+5682_5041+5685delinsATGT (n.5041+5682_5041+5685delinsATGT)
c.5062+4_5062+7delinsATGT (n.5062+4_5062+7delinsATGT)
c.5014+4_5014+7delinsATGT (n.5014+4_5014+7delinsATGT)
c.4972+4_4972+7delinsATGT (n.4972+4_4972+7delinsATGT)
8g.132941547T>ACA4884406TGc.5233+5T>A (n.5233+5T>A)
c.599+5683T>A
c.1888+5T>A
c.5041+5683T>A (n.5041+5683T>A)
c.5062+5T>A (n.5062+5T>A)
c.5014+5T>A (n.5014+5T>A)
c.4972+5T>A (n.4972+5T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941547T>CCA4884405TGc.5233+5T>C (n.5233+5T>C)
c.599+5683T>C
c.1888+5T>C
c.5041+5683T>C (n.5041+5683T>C)
c.5062+5T>C (n.5062+5T>C)
c.5014+5T>C (n.5014+5T>C)
c.4972+5T>C (n.4972+5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941547T=CA1821019379TGc.5233+5T= (n.5233+5T=)
c.599+5683T=
c.1888+5T=
c.5041+5683T= (n.5041+5683T=)
c.5062+5T= (n.5062+5T=)
c.5014+5T= (n.5014+5T=)
c.4972+5T= (n.4972+5T=)
8g.132941549_132941551delCA4884404TGc.5233+7_5233+9del (n.5233+7_5233+9del)
c.599+5685_599+5687del
c.1888+7_1888+9del
c.5041+5685_5041+5687del (n.5041+5685_5041+5687del)
c.5062+7_5062+9del (n.5062+7_5062+9del)
c.5014+7_5014+9del (n.5014+7_5014+9del)
c.4972+7_4972+9del (n.4972+7_4972+9del)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941548G>ACA2688651832TGc.5233+6G>A (n.5233+6G>A)
c.599+5684G>A
c.1888+6G>A
c.5041+5684G>A (n.5041+5684G>A)
c.5062+6G>A (n.5062+6G>A)
c.5014+6G>A (n.5014+6G>A)
c.4972+6G>A (n.4972+6G>A)
 gnomAD v4
8g.132941548G>CCA4884407TGc.5233+6G>C (n.5233+6G>C)
c.599+5684G>C
c.1888+6G>C
c.5041+5684G>C (n.5041+5684G>C)
c.5062+6G>C (n.5062+6G>C)
c.5014+6G>C (n.5014+6G>C)
c.4972+6G>C (n.4972+6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941548G=CA1821019380TGc.5233+6G= (n.5233+6G=)
c.599+5684G=
c.1888+6G=
c.5041+5684G= (n.5041+5684G=)
c.5062+6G= (n.5062+6G=)
c.5014+6G= (n.5014+6G=)
c.4972+6G= (n.4972+6G=)
8g.132941549T>CCA4884408TGc.5233+7T>C (n.5233+7T>C)
c.599+5685T>C
c.1888+7T>C
c.5041+5685T>C (n.5041+5685T>C)
c.5062+7T>C (n.5062+7T>C)
c.5014+7T>C (n.5014+7T>C)
c.4972+7T>C (n.4972+7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941549T=CA1821019381TGc.5233+7T= (n.5233+7T=)
c.599+5685T=
c.1888+7T=
c.5041+5685T= (n.5041+5685T=)
c.5062+7T= (n.5062+7T=)
c.5014+7T= (n.5014+7T=)
c.4972+7T= (n.4972+7T=)
8g.132941550T>GCA2688651833TGc.5233+8T>G (n.5233+8T>G)
c.599+5686T>G
c.1888+8T>G
c.5041+5686T>G (n.5041+5686T>G)
c.5062+8T>G (n.5062+8T>G)
c.5014+8T>G (n.5014+8T>G)
c.4972+8T>G (n.4972+8T>G)
 ClinVar dbSNP gnomAD v4
8g.132941551G>CCA1821019383TGc.5233+9G>C (n.5233+9G>C)
c.599+5687G>C
c.1888+9G>C
c.5041+5687G>C (n.5041+5687G>C)
c.5062+9G>C (n.5062+9G>C)
c.5014+9G>C (n.5014+9G>C)
c.4972+9G>C (n.4972+9G>C)
 dbSNP gnomAD v4
8g.132941551G=CA1821019382TGc.5233+9G= (n.5233+9G=)
c.599+5687G=
c.1888+9G=
c.5041+5687G= (n.5041+5687G=)
c.5062+9G= (n.5062+9G=)
c.5014+9G= (n.5014+9G=)
c.4972+9G= (n.4972+9G=)
8g.132941552G>ACA1119381768TGc.5233+10G>A (n.5233+10G>A)
c.599+5688G>A
c.1888+10G>A
c.5041+5688G>A (n.5041+5688G>A)
c.5062+10G>A (n.5062+10G>A)
c.5014+10G>A (n.5014+10G>A)
c.4972+10G>A (n.4972+10G>A)
 dbSNP gnomAD v3 gnomAD v4
8g.132941552G=CA1821019384TGc.5233+10G= (n.5233+10G=)
c.599+5688G=
c.1888+10G=
c.5041+5688G= (n.5041+5688G=)
c.5062+10G= (n.5062+10G=)
c.5014+10G= (n.5014+10G=)
c.4972+10G= (n.4972+10G=)
8g.132941553C>TCA2718243006TGc.5233+11C>T (n.5233+11C>T)
c.599+5689C>T
c.1888+11C>T
c.5041+5689C>T (n.5041+5689C>T)
c.5062+11C>T (n.5062+11C>T)
c.5014+11C>T (n.5014+11C>T)
c.4972+11C>T (n.4972+11C>T)
 dbSNP
8g.132941555G>ACA1119381770TGc.5233+13G>A (n.5233+13G>A)
c.599+5691G>A
c.1888+13G>A
c.5041+5691G>A (n.5041+5691G>A)
c.5062+13G>A (n.5062+13G>A)
c.5014+13G>A (n.5014+13G>A)
c.4972+13G>A (n.4972+13G>A)
 dbSNP gnomAD v4
8g.132941555G=CA1821019385TGc.5233+13G= (n.5233+13G=)
c.599+5691G=
c.1888+13G=
c.5041+5691G= (n.5041+5691G=)
c.5062+13G= (n.5062+13G=)
c.5014+13G= (n.5014+13G=)
c.4972+13G= (n.4972+13G=)
8g.132941556T>CCA2688651834TGc.5233+14T>C (n.5233+14T>C)
c.599+5692T>C
c.1888+14T>C
c.5041+5692T>C (n.5041+5692T>C)
c.5062+14T>C (n.5062+14T>C)
c.5014+14T>C (n.5014+14T>C)
c.4972+14T>C (n.4972+14T>C)
 gnomAD v4
8g.132941556T>GCA2579254216TGc.5233+14T>G (n.5233+14T>G)
c.599+5692T>G
c.1888+14T>G
c.5041+5692T>G (n.5041+5692T>G)
c.5062+14T>G (n.5062+14T>G)
c.5014+14T>G (n.5014+14T>G)
c.4972+14T>G (n.4972+14T>G)
 gnomAD v4
8g.132941557G>ACA2688651835TGc.5233+15G>A (n.5233+15G>A)
c.599+5693G>A
c.1888+15G>A
c.5041+5693G>A (n.5041+5693G>A)
c.5062+15G>A (n.5062+15G>A)
c.5014+15G>A (n.5014+15G>A)
c.4972+15G>A (n.4972+15G>A)
 gnomAD v4
8g.132941559G>CCA847706999TGc.5233+17G>C (n.5233+17G>C)
c.599+5695G>C
c.1888+17G>C
c.5041+5695G>C (n.5041+5695G>C)
c.5062+17G>C (n.5062+17G>C)
c.5014+17G>C (n.5014+17G>C)
c.4972+17G>C (n.4972+17G>C)
 dbSNP gnomAD v3 gnomAD v4
8g.132941559G=CA1821019386TGc.5233+17G= (n.5233+17G=)
c.599+5695G=
c.1888+17G=
c.5041+5695G= (n.5041+5695G=)
c.5062+17G= (n.5062+17G=)
c.5014+17G= (n.5014+17G=)
c.4972+17G= (n.4972+17G=)
8g.132941561G>ACA4884410TGc.5233+19G>A (n.5233+19G>A)
c.599+5697G>A
c.1888+19G>A
c.5041+5697G>A (n.5041+5697G>A)
c.5062+19G>A (n.5062+19G>A)
c.5014+19G>A (n.5014+19G>A)
c.4972+19G>A (n.4972+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941561G=CA1821019388TGc.5233+19G= (n.5233+19G=)
c.599+5697G=
c.1888+19G=
c.5041+5697G= (n.5041+5697G=)
c.5062+19G= (n.5062+19G=)
c.5014+19G= (n.5014+19G=)
c.4972+19G= (n.4972+19G=)
8g.132941561G>TCA2579254217TGc.5233+19G>T (n.5233+19G>T)
c.599+5697G>T
c.1888+19G>T
c.5041+5697G>T (n.5041+5697G>T)
c.5062+19G>T (n.5062+19G>T)
c.5014+19G>T (n.5014+19G>T)
c.4972+19G>T (n.4972+19G>T)
 gnomAD v4
8g.132941561_132941562delinsGCCA1821019387TGc.5233+19_5233+20delinsGC (n.5233+19_5233+20delinsGC)
c.599+5697_599+5698delinsGC
c.1888+19_1888+20delinsGC
c.5041+5697_5041+5698delinsGC (n.5041+5697_5041+5698delinsGC)
c.5062+19_5062+20delinsGC (n.5062+19_5062+20delinsGC)
c.5014+19_5014+20delinsGC (n.5014+19_5014+20delinsGC)
c.4972+19_4972+20delinsGC (n.4972+19_4972+20delinsGC)
8g.132941562C=CA1821019389TGc.5233+20C= (n.5233+20C=)
c.599+5698C=
c.1888+20C=
c.5041+5698C= (n.5041+5698C=)
c.5062+20C= (n.5062+20C=)
c.5014+20C= (n.5014+20C=)
c.4972+20C= (n.4972+20C=)
8g.132941562C>GCA1821019390TGc.5233+20C>G (n.5233+20C>G)
c.599+5698C>G
c.1888+20C>G
c.5041+5698C>G (n.5041+5698C>G)
c.5062+20C>G (n.5062+20C>G)
c.5014+20C>G (n.5014+20C>G)
c.4972+20C>G (n.4972+20C>G)
 ClinVar dbSNP gnomAD v4
8g.132941563delCA4884409TGc.5233+21del (n.5233+21del)
c.599+5699del
c.1888+21del
c.5041+5699del (n.5041+5699del)
c.5062+21del (n.5062+21del)
c.5014+21del (n.5014+21del)
c.4972+21del (n.4972+21del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941563C>TCA2688651836TGc.5233+21C>T (n.5233+21C>T)
c.599+5699C>T
c.1888+21C>T
c.5041+5699C>T (n.5041+5699C>T)
c.5062+21C>T (n.5062+21C>T)
c.5014+21C>T (n.5014+21C>T)
c.4972+21C>T (n.4972+21C>T)
 gnomAD v4
8g.132941564A=CA1821019391TGc.5233+22A= (n.5233+22A=)
c.599+5700A=
c.1888+22A=
c.5041+5700A= (n.5041+5700A=)
c.5062+22A= (n.5062+22A=)
c.5014+22A= (n.5014+22A=)
c.4972+22A= (n.4972+22A=)
8g.132941564A>GCA585277674TGc.5233+22A>G (n.5233+22A>G)
c.599+5700A>G
c.1888+22A>G
c.5041+5700A>G (n.5041+5700A>G)
c.5062+22A>G (n.5062+22A>G)
c.5014+22A>G (n.5014+22A>G)
c.4972+22A>G (n.4972+22A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.132941565G>ACA2688651837TGc.5233+23G>A (n.5233+23G>A)
c.599+5701G>A
c.1888+23G>A
c.5041+5701G>A (n.5041+5701G>A)
c.5062+23G>A (n.5062+23G>A)
c.5014+23G>A (n.5014+23G>A)
c.4972+23G>A (n.4972+23G>A)
 gnomAD v4
8g.132941565G>CCA4884411TGc.5233+23G>C (n.5233+23G>C)
c.599+5701G>C
c.1888+23G>C
c.5041+5701G>C (n.5041+5701G>C)
c.5062+23G>C (n.5062+23G>C)
c.5014+23G>C (n.5014+23G>C)
c.4972+23G>C (n.4972+23G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941565G=CA1821019392TGc.5233+23G= (n.5233+23G=)
c.599+5701G=
c.1888+23G=
c.5041+5701G= (n.5041+5701G=)
c.5062+23G= (n.5062+23G=)
c.5014+23G= (n.5014+23G=)
c.4972+23G= (n.4972+23G=)
8g.132941567G>ACA4884412TGc.5233+25G>A (n.5233+25G>A)
c.599+5703G>A
c.1888+25G>A
c.5041+5703G>A (n.5041+5703G>A)
c.5062+25G>A (n.5062+25G>A)
c.5014+25G>A (n.5014+25G>A)
c.4972+25G>A (n.4972+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941567G=CA1821019393TGc.5233+25G= (n.5233+25G=)
c.599+5703G=
c.1888+25G=
c.5041+5703G= (n.5041+5703G=)
c.5062+25G= (n.5062+25G=)
c.5014+25G= (n.5014+25G=)
c.4972+25G= (n.4972+25G=)
8g.132941567G>TCA2688651838TGc.5233+25G>T (n.5233+25G>T)
c.599+5703G>T
c.1888+25G>T
c.5041+5703G>T (n.5041+5703G>T)
c.5062+25G>T (n.5062+25G>T)
c.5014+25G>T (n.5014+25G>T)
c.4972+25G>T (n.4972+25G>T)
 gnomAD v4
8g.132941568C>TCA2688651839TGc.5233+26C>T (n.5233+26C>T)
c.599+5704C>T
c.1888+26C>T
c.5041+5704C>T (n.5041+5704C>T)
c.5062+26C>T (n.5062+26C>T)
c.5014+26C>T (n.5014+26C>T)
c.4972+26C>T (n.4972+26C>T)
 gnomAD v4
8g.132941569C>ACA2579254218TGc.5233+27C>A (n.5233+27C>A)
c.599+5705C>A
c.1888+27C>A
c.5041+5705C>A (n.5041+5705C>A)
c.5062+27C>A (n.5062+27C>A)
c.5014+27C>A (n.5014+27C>A)
c.4972+27C>A (n.4972+27C>A)
8g.132941569C>TCA2688651840TGc.5233+27C>T (n.5233+27C>T)
c.599+5705C>T
c.1888+27C>T
c.5041+5705C>T (n.5041+5705C>T)
c.5062+27C>T (n.5062+27C>T)
c.5014+27C>T (n.5014+27C>T)
c.4972+27C>T (n.4972+27C>T)
 gnomAD v4
8g.132941572A>GCA2718243039TGc.5233+30A>G (n.5233+30A>G)
c.599+5708A>G
c.1888+30A>G
c.5041+5708A>G (n.5041+5708A>G)
c.5062+30A>G (n.5062+30A>G)
c.5014+30A>G (n.5014+30A>G)
c.4972+30A>G (n.4972+30A>G)
 dbSNP
8g.132941573C>TCA2579254219TGc.5233+31C>T (n.5233+31C>T)
c.599+5709C>T
c.1888+31C>T
c.5041+5709C>T (n.5041+5709C>T)
c.5062+31C>T (n.5062+31C>T)
c.5014+31C>T (n.5014+31C>T)
c.4972+31C>T (n.4972+31C>T)
 gnomAD v4
8g.132941574A>GCA2718243046TGc.5233+32A>G (n.5233+32A>G)
c.599+5710A>G
c.1888+32A>G
c.5041+5710A>G (n.5041+5710A>G)
c.5062+32A>G (n.5062+32A>G)
c.5014+32A>G (n.5014+32A>G)
c.4972+32A>G (n.4972+32A>G)
 dbSNP
8g.132941576G>ACA2688651841TGc.5233+34G>A (n.5233+34G>A)
c.599+5712G>A
c.1888+34G>A
c.5041+5712G>A (n.5041+5712G>A)
c.5062+34G>A (n.5062+34G>A)
c.5014+34G>A (n.5014+34G>A)
c.4972+34G>A (n.4972+34G>A)
 gnomAD v4
8g.132941576G=CA1821019394TGc.5233+34G= (n.5233+34G=)
c.599+5712G=
c.1888+34G=
c.5041+5712G= (n.5041+5712G=)
c.5062+34G= (n.5062+34G=)
c.5014+34G= (n.5014+34G=)
c.4972+34G= (n.4972+34G=)
8g.132941576G>TCA585277675TGc.5233+34G>T (n.5233+34G>T)
c.599+5712G>T
c.1888+34G>T
c.5041+5712G>T (n.5041+5712G>T)
c.5062+34G>T (n.5062+34G>T)
c.5014+34G>T (n.5014+34G>T)
c.4972+34G>T (n.4972+34G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.132941578G>CCA2688651842TGc.5233+36G>C (n.5233+36G>C)
c.599+5714G>C
c.1888+36G>C
c.5041+5714G>C (n.5041+5714G>C)
c.5062+36G>C (n.5062+36G>C)
c.5014+36G>C (n.5014+36G>C)
c.4972+36G>C (n.4972+36G>C)
 gnomAD v4
8g.132941579A>GCA2688651843TGc.5233+37A>G (n.5233+37A>G)
c.599+5715A>G
c.1888+37A>G
c.5041+5715A>G (n.5041+5715A>G)
c.5062+37A>G (n.5062+37A>G)
c.5014+37A>G (n.5014+37A>G)
c.4972+37A>G (n.4972+37A>G)
 gnomAD v4
8g.132941579A>TCA2688651844TGc.5233+37A>T (n.5233+37A>T)
c.599+5715A>T
c.1888+37A>T
c.5041+5715A>T (n.5041+5715A>T)
c.5062+37A>T (n.5062+37A>T)
c.5014+37A>T (n.5014+37A>T)
c.4972+37A>T (n.4972+37A>T)
 gnomAD v4
8g.132941581G>ACA4884413TGc.5233+39G>A (n.5233+39G>A)
c.599+5717G>A
c.1888+39G>A
c.5041+5717G>A (n.5041+5717G>A)
c.5062+39G>A (n.5062+39G>A)
c.5014+39G>A (n.5014+39G>A)
c.4972+39G>A (n.4972+39G>A)
 dbSNP ExAC
8g.132941581G=CA1821019395TGc.5233+39G= (n.5233+39G=)
c.599+5717G=
c.1888+39G=
c.5041+5717G= (n.5041+5717G=)
c.5062+39G= (n.5062+39G=)
c.5014+39G= (n.5014+39G=)
c.4972+39G= (n.4972+39G=)
8g.132941583_132941586dupCA2688651845TGc.5233+41_5233+44dup (n.5233+41_5233+44dup)
c.599+5719_599+5722dup
c.1888+41_1888+44dup
c.5041+5719_5041+5722dup (n.5041+5719_5041+5722dup)
c.5062+41_5062+44dup (n.5062+41_5062+44dup)
c.5014+41_5014+44dup (n.5014+41_5014+44dup)
c.4972+41_4972+44dup (n.4972+41_4972+44dup)
 gnomAD v4
8g.132941583G=CA1821019396TGc.5233+41G= (n.5233+41G=)
c.599+5719G=
c.1888+41G=
c.5041+5719G= (n.5041+5719G=)
c.5062+41G= (n.5062+41G=)
c.5014+41G= (n.5014+41G=)
c.4972+41G= (n.4972+41G=)
8g.132941583G>TCA4884414TGc.5233+41G>T (n.5233+41G>T)
c.599+5719G>T
c.1888+41G>T
c.5041+5719G>T (n.5041+5719G>T)
c.5062+41G>T (n.5062+41G>T)
c.5014+41G>T (n.5014+41G>T)
c.4972+41G>T (n.4972+41G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941584G>CCA186325988TGc.5233+42G>C (n.5233+42G>C)
c.599+5720G>C
c.1888+42G>C
c.5041+5720G>C (n.5041+5720G>C)
c.5062+42G>C (n.5062+42G>C)
c.5014+42G>C (n.5014+42G>C)
c.4972+42G>C (n.4972+42G>C)
 dbSNP
8g.132941584G=CA1821019397TGc.5233+42G= (n.5233+42G=)
c.599+5720G=
c.1888+42G=
c.5041+5720G= (n.5041+5720G=)
c.5062+42G= (n.5062+42G=)
c.5014+42G= (n.5014+42G=)
c.4972+42G= (n.4972+42G=)
8g.132941585A=CA1821019398TGc.5233+43A= (n.5233+43A=)
c.599+5721A=
c.1888+43A=
c.5041+5721A= (n.5041+5721A=)
c.5062+43A= (n.5062+43A=)
c.5014+43A= (n.5014+43A=)
c.4972+43A= (n.4972+43A=)
8g.132941585A>GCA4884415TGc.5233+43A>G (n.5233+43A>G)
c.599+5721A>G
c.1888+43A>G
c.5041+5721A>G (n.5041+5721A>G)
c.5062+43A>G (n.5062+43A>G)
c.5014+43A>G (n.5014+43A>G)
c.4972+43A>G (n.4972+43A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941586G>ACA186325998TGc.5233+44G>A (n.5233+44G>A)
c.599+5722G>A
c.1888+44G>A
c.5041+5722G>A (n.5041+5722G>A)
c.5062+44G>A (n.5062+44G>A)
c.5014+44G>A (n.5014+44G>A)
c.4972+44G>A (n.4972+44G>A)
 dbSNP gnomAD v4
8g.132941586G=CA1821019399TGc.5233+44G= (n.5233+44G=)
c.599+5722G=
c.1888+44G=
c.5041+5722G= (n.5041+5722G=)
c.5062+44G= (n.5062+44G=)
c.5014+44G= (n.5014+44G=)
c.4972+44G= (n.4972+44G=)
8g.132941586_132941589dupCA2718243048TGc.5233+44_5233+47dup (n.5233+44_5233+47dup)
c.599+5722_599+5725dup
c.1888+44_1888+47dup
c.5041+5722_5041+5725dup (n.5041+5722_5041+5725dup)
c.5062+44_5062+47dup (n.5062+44_5062+47dup)
c.5014+44_5014+47dup (n.5014+44_5014+47dup)
c.4972+44_4972+47dup (n.4972+44_4972+47dup)
 dbSNP
8g.132941587C>TCA2688651847TGc.5233+45C>T (n.5233+45C>T)
c.599+5723C>T
c.1888+45C>T
c.5041+5723C>T (n.5041+5723C>T)
c.5062+45C>T (n.5062+45C>T)
c.5014+45C>T (n.5014+45C>T)
c.4972+45C>T (n.4972+45C>T)
 gnomAD v4
8g.132941591_132941592delCA2688651846TGc.5233+49_5233+50del (n.5233+49_5233+50del)
c.599+5727_599+5728del
c.1888+49_1888+50del
c.5041+5727_5041+5728del (n.5041+5727_5041+5728del)
c.5062+49_5062+50del (n.5062+49_5062+50del)
c.5014+49_5014+50del (n.5014+49_5014+50del)
c.4972+49_4972+50del (n.4972+49_4972+50del)
 gnomAD v4
8g.132941588A>GCA2688651848TGc.5233+46A>G (n.5233+46A>G)
c.599+5724A>G
c.1888+46A>G
c.5041+5724A>G (n.5041+5724A>G)
c.5062+46A>G (n.5062+46A>G)
c.5014+46A>G (n.5014+46A>G)
c.4972+46A>G (n.4972+46A>G)
 gnomAD v4
8g.132941591C>ACA847707019TGc.5233+49C>A (n.5233+49C>A)
c.599+5727C>A
c.1888+49C>A
c.5041+5727C>A (n.5041+5727C>A)
c.5062+49C>A (n.5062+49C>A)
c.5014+49C>A (n.5014+49C>A)
c.4972+49C>A (n.4972+49C>A)
 dbSNP
8g.132941591C=CA1821019400TGc.5233+49C= (n.5233+49C=)
c.599+5727C=
c.1888+49C=
c.5041+5727C= (n.5041+5727C=)
c.5062+49C= (n.5062+49C=)
c.5014+49C= (n.5014+49C=)
c.4972+49C= (n.4972+49C=)
8g.132941591C>GCA4884416TGc.5233+49C>G (n.5233+49C>G)
c.599+5727C>G
c.1888+49C>G
c.5041+5727C>G (n.5041+5727C>G)
c.5062+49C>G (n.5062+49C>G)
c.5014+49C>G (n.5014+49C>G)
c.4972+49C>G (n.4972+49C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132941591C>TCA2688651849TGc.5233+49C>T (n.5233+49C>T)
c.599+5727C>T
c.1888+49C>T
c.5041+5727C>T (n.5041+5727C>T)
c.5062+49C>T (n.5062+49C>T)
c.5014+49C>T (n.5014+49C>T)
c.4972+49C>T (n.4972+49C>T)
 gnomAD v4
8g.132941592A>GCA2688651850TGc.5233+50A>G (n.5233+50A>G)
c.599+5728A>G
c.1888+50A>G
c.5041+5728A>G (n.5041+5728A>G)
c.5062+50A>G (n.5062+50A>G)
c.5014+50A>G (n.5014+50A>G)
c.4972+50A>G (n.4972+50A>G)
 gnomAD v4
8g.132941593G>ACA4884417TGc.5233+51G>A (n.5233+51G>A)
c.599+5729G>A
c.1888+51G>A
c.5041+5729G>A (n.5041+5729G>A)
c.5062+51G>A (n.5062+51G>A)
c.5014+51G>A (n.5014+51G>A)
c.4972+51G>A (n.4972+51G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132941593G=CA1821019401TGc.5233+51G= (n.5233+51G=)
c.599+5729G=
c.1888+51G=
c.5041+5729G= (n.5041+5729G=)
c.5062+51G= (n.5062+51G=)
c.5014+51G= (n.5014+51G=)
c.4972+51G= (n.4972+51G=)

Number of alleles fetched