Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.207611771G>ACA422972949CR1c.6390G>A (p.Glu2130=)
c.5040G>A (p.Glu1680=)
c.1180-4804G>A
c.6405G>A (p.Glu2135=)
c.5055G>A (p.Glu1685=)
1g.207611771G>CCA344545124CR1c.6390G>C (p.Glu2130Asp)
c.5040G>C (p.Glu1680Asp)
c.1180-4804G>C
c.6405G>C (p.Glu2135Asp)
c.5055G>C (p.Glu1685Asp)
1g.207611771G>TCA344545125CR1c.6390G>T (p.Glu2130Asp)
c.5040G>T (p.Glu1680Asp)
c.1180-4804G>T
c.6405G>T (p.Glu2135Asp)
c.5055G>T (p.Glu1685Asp)
1g.207611772C>ACA344545126CR1c.6391C>A (p.Pro2131Thr)
c.5041C>A (p.Pro1681Thr)
c.1180-4803C>A
c.6406C>A (p.Pro2136Thr)
c.5056C>A (p.Pro1686Thr)
1g.207611772C>GCA344545127CR1c.6391C>G (p.Pro2131Ala)
c.5041C>G (p.Pro1681Ala)
c.1180-4803C>G
c.6406C>G (p.Pro2136Ala)
c.5056C>G (p.Pro1686Ala)
1g.207611772C>TCA344545128CR1c.6391C>T (p.Pro2131Ser)
c.5041C>T (p.Pro1681Ser)
c.1180-4803C>T
c.6406C>T (p.Pro2136Ser)
c.5056C>T (p.Pro1686Ser)
1g.207611773C>ACA344545129CR1c.6392C>A (p.Pro2131His)
c.5042C>A (p.Pro1681His)
c.1180-4802C>A
c.6407C>A (p.Pro2136His)
c.5057C>A (p.Pro1686His)
1g.207611773C>GCA344545130CR1c.6392C>G (p.Pro2131Arg)
c.5042C>G (p.Pro1681Arg)
c.1180-4802C>G
c.6407C>G (p.Pro2136Arg)
c.5057C>G (p.Pro1686Arg)
1g.207611773C>TCA344545131CR1c.6392C>T (p.Pro2131Leu)
c.5042C>T (p.Pro1681Leu)
c.1180-4802C>T
c.6407C>T (p.Pro2136Leu)
c.5057C>T (p.Pro1686Leu)
1g.207611774C>ACA422972950CR1c.6393C>A (p.Pro2131=)
c.5043C>A (p.Pro1681=)
c.1180-4801C>A
c.6408C>A (p.Pro2136=)
c.5058C>A (p.Pro1686=)
 COSMIC COSMIC
1g.207611774C=CA2483456549CR1c.6393C= (p.Pro2131=)
c.5043C= (p.Pro1681=)
c.1180-4801C=
c.6408C= (p.Pro2136=)
c.5058C= (p.Pro1686=)
1g.207611774C>GCA422972951CR1c.6393C>G (p.Pro2131=)
c.5043C>G (p.Pro1681=)
c.1180-4801C>G
c.6408C>G (p.Pro2136=)
c.5058C>G (p.Pro1686=)
1g.207611774C>TCA422972952CR1c.6393C>T (p.Pro2131=)
c.5043C>T (p.Pro1681=)
c.1180-4801C>T
c.6408C>T (p.Pro2136=)
c.5058C>T (p.Pro1686=)
 dbSNP gnomAD v2
1g.207611775A=CA2483456550CR1c.6394A= (p.Ser2132=)
c.5044A= (p.Ser1682=)
c.1180-4800A=
c.6409A= (p.Ser2137=)
c.5059A= (p.Ser1687=)
1g.207611775A>CCA344545132CR1c.6394A>C (p.Ser2132Arg)
c.5044A>C (p.Ser1682Arg)
c.1180-4800A>C
c.6409A>C (p.Ser2137Arg)
c.5059A>C (p.Ser1687Arg)
1g.207611775A>GCA344545133CR1c.6394A>G (p.Ser2132Gly)
c.5044A>G (p.Ser1682Gly)
c.1180-4800A>G
c.6409A>G (p.Ser2137Gly)
c.5059A>G (p.Ser1687Gly)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.207611775A>TCA344545134CR1c.6394A>T (p.Ser2132Cys)
c.5044A>T (p.Ser1682Cys)
c.1180-4800A>T
c.6409A>T (p.Ser2137Cys)
c.5059A>T (p.Ser1687Cys)
 COSMIC COSMIC
1g.207611776G>ACA344545135CR1c.6395G>A (p.Ser2132Asn)
c.5045G>A (p.Ser1682Asn)
c.1180-4799G>A
c.6410G>A (p.Ser2137Asn)
c.5060G>A (p.Ser1687Asn)
1g.207611776G>CCA344545136CR1c.6395G>C (p.Ser2132Thr)
c.5045G>C (p.Ser1682Thr)
c.1180-4799G>C
c.6410G>C (p.Ser2137Thr)
c.5060G>C (p.Ser1687Thr)
 dbSNP gnomAD v4
1g.207611776G=CA2483456551CR1c.6395G= (p.Ser2132=)
c.5045G= (p.Ser1682=)
c.1180-4799G=
c.6410G= (p.Ser2137=)
c.5060G= (p.Ser1687=)
1g.207611776G>TCA344545137CR1c.6395G>T (p.Ser2132Ile)
c.5045G>T (p.Ser1682Ile)
c.1180-4799G>T
c.6410G>T (p.Ser2137Ile)
c.5060G>T (p.Ser1687Ile)
1g.207611777C>ACA344545139CR1c.6396C>A (p.Ser2132Arg)
c.5046C>A (p.Ser1682Arg)
c.1180-4798C>A
c.6411C>A (p.Ser2137Arg)
c.5061C>A (p.Ser1687Arg)
1g.207611777C=CA2483456552CR1c.6396C= (p.Ser2132=)
c.5046C= (p.Ser1682=)
c.1180-4798C=
c.6411C= (p.Ser2137=)
c.5061C= (p.Ser1687=)
1g.207611777C>GCA344545138CR1c.6396C>G (p.Ser2132Arg)
c.5046C>G (p.Ser1682Arg)
c.1180-4798C>G
c.6411C>G (p.Ser2137Arg)
c.5061C>G (p.Ser1687Arg)
1g.207611777C>TCA1370431CR1c.6396C>T (p.Ser2132=)
c.5046C>T (p.Ser1682=)
c.1180-4798C>T
c.6411C>T (p.Ser2137=)
c.5061C>T (p.Ser1687=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611778T>ACA344545140CR1c.6397T>A (p.Tyr2133Asn)
c.5047T>A (p.Tyr1683Asn)
c.1180-4797T>A
c.6412T>A (p.Tyr2138Asn)
c.5062T>A (p.Tyr1688Asn)
1g.207611778T>CCA344545141CR1c.6397T>C (p.Tyr2133His)
c.5047T>C (p.Tyr1683His)
c.1180-4797T>C
c.6412T>C (p.Tyr2138His)
c.5062T>C (p.Tyr1688His)
1g.207611778T>GCA344545142CR1c.6397T>G (p.Tyr2133Asp)
c.5047T>G (p.Tyr1683Asp)
c.1180-4797T>G
c.6412T>G (p.Tyr2138Asp)
c.5062T>G (p.Tyr1688Asp)
1g.207611779A=CA2483456553CR1c.6398A= (p.Tyr2133=)
c.5048A= (p.Tyr1683=)
c.1180-4796A=
c.6413A= (p.Tyr2138=)
c.5063A= (p.Tyr1688=)
1g.207611779A>CCA344545143CR1c.6398A>C (p.Tyr2133Ser)
c.5048A>C (p.Tyr1683Ser)
c.1180-4796A>C
c.6413A>C (p.Tyr2138Ser)
c.5063A>C (p.Tyr1688Ser)
1g.207611779A>GCA344545144CR1c.6398A>G (p.Tyr2133Cys)
c.5048A>G (p.Tyr1683Cys)
c.1180-4796A>G
c.6413A>G (p.Tyr2138Cys)
c.5063A>G (p.Tyr1688Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611779A>TCA344545145CR1c.6398A>T (p.Tyr2133Phe)
c.5048A>T (p.Tyr1683Phe)
c.1180-4796A>T
c.6413A>T (p.Tyr2138Phe)
c.5063A>T (p.Tyr1688Phe)
1g.207611780T>ACA344545146CR1c.6399T>A (p.Tyr2133Ter)
c.5049T>A (p.Tyr1683Ter)
c.1180-4795T>A
c.6414T>A (p.Tyr2138Ter)
c.5064T>A (p.Tyr1688Ter)
1g.207611780T>CCA422972963CR1c.6399T>C (p.Tyr2133=)
c.5049T>C (p.Tyr1683=)
c.1180-4795T>C
c.6414T>C (p.Tyr2138=)
c.5064T>C (p.Tyr1688=)
 gnomAD v4
1g.207611780T>GCA344545147CR1c.6399T>G (p.Tyr2133Ter)
c.5049T>G (p.Tyr1683Ter)
c.1180-4795T>G
c.6414T>G (p.Tyr2138Ter)
c.5064T>G (p.Tyr1688Ter)
1g.207611781G>ACA344545148CR1c.6400G>A (p.Asp2134Asn)
c.5050G>A (p.Asp1684Asn)
c.1180-4794G>A
c.6415G>A (p.Asp2139Asn)
c.5065G>A (p.Asp1689Asn)
1g.207611781G>CCA344545149CR1c.6400G>C (p.Asp2134His)
c.5050G>C (p.Asp1684His)
c.1180-4794G>C
c.6415G>C (p.Asp2139His)
c.5065G>C (p.Asp1689His)
1g.207611781G=CA2483456554CR1c.6400G= (p.Asp2134=)
c.5050G= (p.Asp1684=)
c.1180-4794G=
c.6415G= (p.Asp2139=)
c.5065G= (p.Asp1689=)
1g.207611781G>TCA1370432CR1c.6400G>T (p.Asp2134Tyr)
c.5050G>T (p.Asp1684Tyr)
c.1180-4794G>T
c.6415G>T (p.Asp2139Tyr)
c.5065G>T (p.Asp1689Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611782A=CA1146972848CR1c.6401A= (p.Asp2134=)
c.5051A= (p.Asp1684=)
c.1180-4793A=
c.6416A= (p.Asp2139=)
c.5066A= (p.Asp1689=)
1g.207611782A>CCA344545151CR1c.6401A>C (p.Asp2134Ala)
c.5051A>C (p.Asp1684Ala)
c.1180-4793A>C
c.6416A>C (p.Asp2139Ala)
c.5066A>C (p.Asp1689Ala)
1g.207611782A>GCA1370433CR1c.6401A>G (p.Asp2134Gly)
c.5051A>G (p.Asp1684Gly)
c.1180-4793A>G
c.6416A>G (p.Asp2139Gly)
c.5066A>G (p.Asp1689Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611782A>TCA344545150CR1c.6401A>T (p.Asp2134Val)
c.5051A>T (p.Asp1684Val)
c.1180-4793A>T
c.6416A>T (p.Asp2139Val)
c.5066A>T (p.Asp1689Val)
 dbSNP
1g.207611783C>ACA344545152CR1c.6402C>A (p.Asp2134Glu)
c.5052C>A (p.Asp1684Glu)
c.1180-4792C>A
c.6417C>A (p.Asp2139Glu)
c.5067C>A (p.Asp1689Glu)
1g.207611783C>GCA344545153CR1c.6402C>G (p.Asp2134Glu)
c.5052C>G (p.Asp1684Glu)
c.1180-4792C>G
c.6417C>G (p.Asp2139Glu)
c.5067C>G (p.Asp1689Glu)
1g.207611783C>TCA422972971CR1c.6402C>T (p.Asp2134=)
c.5052C>T (p.Asp1684=)
c.1180-4792C>T
c.6417C>T (p.Asp2139=)
c.5067C>T (p.Asp1689=)
 gnomAD v4
1g.207611784C>ACA344545154CR1c.6403C>A (p.Leu2135Ile)
c.5053C>A (p.Leu1685Ile)
c.1180-4791C>A
c.6418C>A (p.Leu2140Ile)
c.5068C>A (p.Leu1690Ile)
1g.207611784C>GCA344545155CR1c.6403C>G (p.Leu2135Val)
c.5053C>G (p.Leu1685Val)
c.1180-4791C>G
c.6418C>G (p.Leu2140Val)
c.5068C>G (p.Leu1690Val)
1g.207611784C>TCA344545156CR1c.6403C>T (p.Leu2135Phe)
c.5053C>T (p.Leu1685Phe)
c.1180-4791C>T
c.6418C>T (p.Leu2140Phe)
c.5068C>T (p.Leu1690Phe)
1g.207611785T>ACA344545157CR1c.6404T>A (p.Leu2135His)
c.5054T>A (p.Leu1685His)
c.1180-4790T>A
c.6419T>A (p.Leu2140His)
c.5069T>A (p.Leu1690His)
1g.207611785T>CCA344545158CR1c.6404T>C (p.Leu2135Pro)
c.5054T>C (p.Leu1685Pro)
c.1180-4790T>C
c.6419T>C (p.Leu2140Pro)
c.5069T>C (p.Leu1690Pro)
1g.207611785T>GCA344545159CR1c.6404T>G (p.Leu2135Arg)
c.5054T>G (p.Leu1685Arg)
c.1180-4790T>G
c.6419T>G (p.Leu2140Arg)
c.5069T>G (p.Leu1690Arg)
1g.207611786C>ACA422972979CR1c.6405C>A (p.Leu2135=)
c.5055C>A (p.Leu1685=)
c.1180-4789C>A
c.6420C>A (p.Leu2140=)
c.5070C>A (p.Leu1690=)
 COSMIC COSMIC
1g.207611786C=CA2483456555CR1c.6405C= (p.Leu2135=)
c.5055C= (p.Leu1685=)
c.1180-4789C=
c.6420C= (p.Leu2140=)
c.5070C= (p.Leu1690=)
1g.207611786C>GCA422972977CR1c.6405C>G (p.Leu2135=)
c.5055C>G (p.Leu1685=)
c.1180-4789C>G
c.6420C>G (p.Leu2140=)
c.5070C>G (p.Leu1690=)
1g.207611786C>TCA1370434CR1c.6405C>T (p.Leu2135=)
c.5055C>T (p.Leu1685=)
c.1180-4789C>T
c.6420C>T (p.Leu2140=)
c.5070C>T (p.Leu1690=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611787A>CCA422972980CR1c.6406A>C (p.Arg2136=)
c.5056A>C (p.Arg1686=)
c.1180-4788A>C
c.6421A>C (p.Arg2141=)
c.5071A>C (p.Arg1691=)
1g.207611787A>GCA344545160CR1c.6406A>G (p.Arg2136Gly)
c.5056A>G (p.Arg1686Gly)
c.1180-4788A>G
c.6421A>G (p.Arg2141Gly)
c.5071A>G (p.Arg1691Gly)
1g.207611787A>TCA344545161CR1c.6406A>T (p.Arg2136Ter)
c.5056A>T (p.Arg1686Ter)
c.1180-4788A>T
c.6421A>T (p.Arg2141Ter)
c.5071A>T (p.Arg1691Ter)
1g.207611788G>ACA344545162CR1c.6407G>A (p.Arg2136Lys)
c.5057G>A (p.Arg1686Lys)
c.1180-4787G>A
c.6422G>A (p.Arg2141Lys)
c.5072G>A (p.Arg1691Lys)
1g.207611788G>CCA344545163CR1c.6407G>C (p.Arg2136Thr)
c.5057G>C (p.Arg1686Thr)
c.1180-4787G>C
c.6422G>C (p.Arg2141Thr)
c.5072G>C (p.Arg1691Thr)
1g.207611788G>TCA344545164CR1c.6407G>T (p.Arg2136Ile)
c.5057G>T (p.Arg1686Ile)
c.1180-4787G>T
c.6422G>T (p.Arg2141Ile)
c.5072G>T (p.Arg1691Ile)
1g.207611789A=CA2483456556CR1c.6408A= (p.Arg2136=)
c.5058A= (p.Arg1686=)
c.1180-4786A=
c.6423A= (p.Arg2141=)
c.5073A= (p.Arg1691=)
1g.207611789A>CCA344545165CR1c.6408A>C (p.Arg2136Ser)
c.5058A>C (p.Arg1686Ser)
c.1180-4786A>C
c.6423A>C (p.Arg2141Ser)
c.5073A>C (p.Arg1691Ser)
1g.207611789A>GCA422972983CR1c.6408A>G (p.Arg2136=)
c.5058A>G (p.Arg1686=)
c.1180-4786A>G
c.6423A>G (p.Arg2141=)
c.5073A>G (p.Arg1691=)
1g.207611789A>TCA344545166CR1c.6408A>T (p.Arg2136Ser)
c.5058A>T (p.Arg1686Ser)
c.1180-4786A>T
c.6423A>T (p.Arg2141Ser)
c.5073A>T (p.Arg1691Ser)
1g.207611790G>ACA344545167CR1c.6409G>A (p.Gly2137Arg)
c.5059G>A (p.Gly1687Arg)
c.1180-4785G>A
c.6424G>A (p.Gly2142Arg)
c.5074G>A (p.Gly1692Arg)
 gnomAD v4
1g.207611790G>CCA36655222CR1c.6409G>C (p.Gly2137Arg)
c.5059G>C (p.Gly1687Arg)
c.1180-4785G>C
c.6424G>C (p.Gly2142Arg)
c.5074G>C (p.Gly1692Arg)
 dbSNP gnomAD v4
1g.207611790G=CA2483456557CR1c.6409G= (p.Gly2137=)
c.5059G= (p.Gly1687=)
c.1180-4785G=
c.6424G= (p.Gly2142=)
c.5074G= (p.Gly1692=)
1g.207611790G>TCA344545168CR1c.6409G>T (p.Gly2137Trp)
c.5059G>T (p.Gly1687Trp)
c.1180-4785G>T
c.6424G>T (p.Gly2142Trp)
c.5074G>T (p.Gly1692Trp)
1g.207611790_207611793delinsGGGGCA1140518296CR1c.6409_6412delinsGGGG (p.Gly2137=)
c.5059_5062delinsGGGG (p.Gly1687=)
c.1180-4785_1180-4782delinsGGGG
c.6424_6427delinsGGGG (p.Gly2142=)
c.5074_5077delinsGGGG (p.Gly1692=)
1g.207611793dupCA36655221CR1c.6412dup (p.Ala2138GlyfsTer15)
c.5062dup (p.Ala1688GlyfsTer15)
c.1180-4782dup
c.6427dup (p.Ala2143GlyfsTer15)
c.5077dup (p.Ala1693GlyfsTer15)
 dbSNP
1g.207611791G>ACA1370435CR1c.6410G>A (p.Gly2137Glu)
c.5060G>A (p.Gly1687Glu)
c.1180-4784G>A
c.6425G>A (p.Gly2142Glu)
c.5075G>A (p.Gly1692Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611791G>CCA344545169CR1c.6410G>C (p.Gly2137Ala)
c.5060G>C (p.Gly1687Ala)
c.1180-4784G>C
c.6425G>C (p.Gly2142Ala)
c.5075G>C (p.Gly1692Ala)
1g.207611791G=CA2483456558CR1c.6410G= (p.Gly2137=)
c.5060G= (p.Gly1687=)
c.1180-4784G=
c.6425G= (p.Gly2142=)
c.5075G= (p.Gly1692=)
1g.207611791G>TCA344545170CR1c.6410G>T (p.Gly2137Val)
c.5060G>T (p.Gly1687Val)
c.1180-4784G>T
c.6425G>T (p.Gly2142Val)
c.5075G>T (p.Gly1692Val)
1g.207611792G>ACA422972991CR1c.6411G>A (p.Gly2137=)
c.5061G>A (p.Gly1687=)
c.1180-4783G>A
c.6426G>A (p.Gly2142=)
c.5076G>A (p.Gly1692=)
1g.207611792G>CCA422972993CR1c.6411G>C (p.Gly2137=)
c.5061G>C (p.Gly1687=)
c.1180-4783G>C
c.6426G>C (p.Gly2142=)
c.5076G>C (p.Gly1692=)
1g.207611792G>TCA422972994CR1c.6411G>T (p.Gly2137=)
c.5061G>T (p.Gly1687=)
c.1180-4783G>T
c.6426G>T (p.Gly2142=)
c.5076G>T (p.Gly1692=)
1g.207611793G>ACA344545171CR1c.6412G>A (p.Ala2138Thr)
c.5062G>A (p.Ala1688Thr)
c.1180-4782G>A
c.6427G>A (p.Ala2143Thr)
c.5077G>A (p.Ala1693Thr)
 dbSNP gnomAD v4
1g.207611793G>CCA344545172CR1c.6412G>C (p.Ala2138Pro)
c.5062G>C (p.Ala1688Pro)
c.1180-4782G>C
c.6427G>C (p.Ala2143Pro)
c.5077G>C (p.Ala1693Pro)
1g.207611793G=CA2483456559CR1c.6412G= (p.Ala2138=)
c.5062G= (p.Ala1688=)
c.1180-4782G=
c.6427G= (p.Ala2143=)
c.5077G= (p.Ala1693=)
1g.207611793G>TCA344545173CR1c.6412G>T (p.Ala2138Ser)
c.5062G>T (p.Ala1688Ser)
c.1180-4782G>T
c.6427G>T (p.Ala2143Ser)
c.5077G>T (p.Ala1693Ser)
1g.207611794C>ACA344545174CR1c.6413C>A (p.Ala2138Asp)
c.5063C>A (p.Ala1688Asp)
c.1180-4781C>A
c.6428C>A (p.Ala2143Asp)
c.5078C>A (p.Ala1693Asp)
1g.207611794C>GCA344545175CR1c.6413C>G (p.Ala2138Gly)
c.5063C>G (p.Ala1688Gly)
c.1180-4781C>G
c.6428C>G (p.Ala2143Gly)
c.5078C>G (p.Ala1693Gly)
1g.207611794C>TCA344545176CR1c.6413C>T (p.Ala2138Val)
c.5063C>T (p.Ala1688Val)
c.1180-4781C>T
c.6428C>T (p.Ala2143Val)
c.5078C>T (p.Ala1693Val)
1g.207611795T>ACA422973002CR1c.6414T>A (p.Ala2138=)
c.5064T>A (p.Ala1688=)
c.1180-4780T>A
c.6429T>A (p.Ala2143=)
c.5079T>A (p.Ala1693=)
1g.207611795T>CCA422973003CR1c.6414T>C (p.Ala2138=)
c.5064T>C (p.Ala1688=)
c.1180-4780T>C
c.6429T>C (p.Ala2143=)
c.5079T>C (p.Ala1693=)
1g.207611795T>GCA422973001CR1c.6414T>G (p.Ala2138=)
c.5064T>G (p.Ala1688=)
c.1180-4780T>G
c.6429T>G (p.Ala2143=)
c.5079T>G (p.Ala1693=)
1g.207611796G>ACA36655224CR1c.6415G>A (p.Ala2139Thr)
c.5065G>A (p.Ala1689Thr)
c.1180-4779G>A
c.6430G>A (p.Ala2144Thr)
c.5080G>A (p.Ala1694Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.207611796G>CCA344545177CR1c.6415G>C (p.Ala2139Pro)
c.5065G>C (p.Ala1689Pro)
c.1180-4779G>C
c.6430G>C (p.Ala2144Pro)
c.5080G>C (p.Ala1694Pro)
1g.207611796G=CA2483456560CR1c.6415G= (p.Ala2139=)
c.5065G= (p.Ala1689=)
c.1180-4779G=
c.6430G= (p.Ala2144=)
c.5080G= (p.Ala1694=)
1g.207611796G>TCA344545178CR1c.6415G>T (p.Ala2139Ser)
c.5065G>T (p.Ala1689Ser)
c.1180-4779G>T
c.6430G>T (p.Ala2144Ser)
c.5080G>T (p.Ala1694Ser)
1g.207611797C>ACA344545179CR1c.6416C>A (p.Ala2139Glu)
c.5066C>A (p.Ala1689Glu)
c.1180-4778C>A
c.6431C>A (p.Ala2144Glu)
c.5081C>A (p.Ala1694Glu)
1g.207611797C=CA2483456561CR1c.6416C= (p.Ala2139=)
c.5066C= (p.Ala1689=)
c.1180-4778C=
c.6431C= (p.Ala2144=)
c.5081C= (p.Ala1694=)
1g.207611797C>GCA344545180CR1c.6416C>G (p.Ala2139Gly)
c.5066C>G (p.Ala1689Gly)
c.1180-4778C>G
c.6431C>G (p.Ala2144Gly)
c.5081C>G (p.Ala1694Gly)
1g.207611797C>TCA1370436CR1c.6416C>T (p.Ala2139Val)
c.5066C>T (p.Ala1689Val)
c.1180-4778C>T
c.6431C>T (p.Ala2144Val)
c.5081C>T (p.Ala1694Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611798G>ACA422973010CR1c.6417G>A (p.Ala2139=)
c.5067G>A (p.Ala1689=)
c.1180-4777G>A
c.6432G>A (p.Ala2144=)
c.5082G>A (p.Ala1694=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611798G>CCA422973011CR1c.6417G>C (p.Ala2139=)
c.5067G>C (p.Ala1689=)
c.1180-4777G>C
c.6432G>C (p.Ala2144=)
c.5082G>C (p.Ala1694=)
1g.207611798G=CA2483456562CR1c.6417G= (p.Ala2139=)
c.5067G= (p.Ala1689=)
c.1180-4777G=
c.6432G= (p.Ala2144=)
c.5082G= (p.Ala1694=)
1g.207611798G>TCA422973013CR1c.6417G>T (p.Ala2139=)
c.5067G>T (p.Ala1689=)
c.1180-4777G>T
c.6432G>T (p.Ala2144=)
c.5082G>T (p.Ala1694=)
1g.207611799T>ACA344545181CR1c.6418T>A (p.Ser2140Thr)
c.5068T>A (p.Ser1690Thr)
c.1180-4776T>A
c.6433T>A (p.Ser2145Thr)
c.5083T>A (p.Ser1695Thr)
1g.207611799T>CCA344545182CR1c.6418T>C (p.Ser2140Pro)
c.5068T>C (p.Ser1690Pro)
c.1180-4776T>C
c.6433T>C (p.Ser2145Pro)
c.5083T>C (p.Ser1695Pro)
 dbSNP gnomAD v4
1g.207611799T>GCA344545183CR1c.6418T>G (p.Ser2140Ala)
c.5068T>G (p.Ser1690Ala)
c.1180-4776T>G
c.6433T>G (p.Ser2145Ala)
c.5083T>G (p.Ser1695Ala)
1g.207611799T=CA2483456563CR1c.6418T= (p.Ser2140=)
c.5068T= (p.Ser1690=)
c.1180-4776T=
c.6433T= (p.Ser2145=)
c.5083T= (p.Ser1695=)
1g.207611800C>ACA344545184CR1c.6419C>A (p.Ser2140Tyr)
c.5069C>A (p.Ser1690Tyr)
c.1180-4775C>A
c.6434C>A (p.Ser2145Tyr)
c.5084C>A (p.Ser1695Tyr)
1g.207611800C=CA2483456564CR1c.6419C= (p.Ser2140=)
c.5069C= (p.Ser1690=)
c.1180-4775C=
c.6434C= (p.Ser2145=)
c.5084C= (p.Ser1695=)
1g.207611800C>GCA1370437CR1c.6419C>G (p.Ser2140Cys)
c.5069C>G (p.Ser1690Cys)
c.1180-4775C>G
c.6434C>G (p.Ser2145Cys)
c.5084C>G (p.Ser1695Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611800C>TCA1370438CR1c.6419C>T (p.Ser2140Phe)
c.5069C>T (p.Ser1690Phe)
c.1180-4775C>T
c.6434C>T (p.Ser2145Phe)
c.5084C>T (p.Ser1695Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611801T>ACA422973022CR1c.6420T>A (p.Ser2140=)
c.5070T>A (p.Ser1690=)
c.1180-4774T>A
c.6435T>A (p.Ser2145=)
c.5085T>A (p.Ser1695=)
1g.207611801T>CCA422973023CR1c.6420T>C (p.Ser2140=)
c.5070T>C (p.Ser1690=)
c.1180-4774T>C
c.6435T>C (p.Ser2145=)
c.5085T>C (p.Ser1695=)
1g.207611801T>GCA422973025CR1c.6420T>G (p.Ser2140=)
c.5070T>G (p.Ser1690=)
c.1180-4774T>G
c.6435T>G (p.Ser2145=)
c.5085T>G (p.Ser1695=)
1g.207611802C>ACA344545185CR1c.6421C>A (p.Leu2141Met)
c.5071C>A (p.Leu1691Met)
c.1180-4773C>A
c.6436C>A (p.Leu2146Met)
c.5086C>A (p.Leu1696Met)
 COSMIC COSMIC
1g.207611802C=CA2483456565CR1c.6421C= (p.Leu2141=)
c.5071C= (p.Leu1691=)
c.1180-4773C=
c.6436C= (p.Leu2146=)
c.5086C= (p.Leu1696=)
1g.207611802C>GCA344545186CR1c.6421C>G (p.Leu2141Val)
c.5071C>G (p.Leu1691Val)
c.1180-4773C>G
c.6436C>G (p.Leu2146Val)
c.5086C>G (p.Leu1696Val)
1g.207611802C>TCA422973028CR1c.6421C>T (p.Leu2141=)
c.5071C>T (p.Leu1691=)
c.1180-4773C>T
c.6436C>T (p.Leu2146=)
c.5086C>T (p.Leu1696=)
 dbSNP gnomAD v3 gnomAD v4
1g.207611803T>ACA344545187CR1c.6422T>A (p.Leu2141Gln)
c.5072T>A (p.Leu1691Gln)
c.1180-4772T>A
c.6437T>A (p.Leu2146Gln)
c.5087T>A (p.Leu1696Gln)
1g.207611803T>CCA344545188CR1c.6422T>C (p.Leu2141Pro)
c.5072T>C (p.Leu1691Pro)
c.1180-4772T>C
c.6437T>C (p.Leu2146Pro)
c.5087T>C (p.Leu1696Pro)
1g.207611803T>GCA344545189CR1c.6422T>G (p.Leu2141Arg)
c.5072T>G (p.Leu1691Arg)
c.1180-4772T>G
c.6437T>G (p.Leu2146Arg)
c.5087T>G (p.Leu1696Arg)
 gnomAD v4
1g.207611804G>ACA422973032CR1c.6423G>A (p.Leu2141=)
c.5073G>A (p.Leu1691=)
c.1180-4771G>A
c.6438G>A (p.Leu2146=)
c.5088G>A (p.Leu1696=)
 dbSNP gnomAD v2 gnomAD v4
1g.207611804G>CCA422973034CR1c.6423G>C (p.Leu2141=)
c.5073G>C (p.Leu1691=)
c.1180-4771G>C
c.6438G>C (p.Leu2146=)
c.5088G>C (p.Leu1696=)
1g.207611804G=CA2483456566CR1c.6423G= (p.Leu2141=)
c.5073G= (p.Leu1691=)
c.1180-4771G=
c.6438G= (p.Leu2146=)
c.5088G= (p.Leu1696=)
1g.207611804G>TCA422973037CR1c.6423G>T (p.Leu2141=)
c.5073G>T (p.Leu1691=)
c.1180-4771G>T
c.6438G>T (p.Leu2146=)
c.5088G>T (p.Leu1696=)
1g.207611805C>ACA344545192CR1c.6424C>A (p.His2142Asn)
c.5074C>A (p.His1692Asn)
c.1180-4770C>A
c.6439C>A (p.His2147Asn)
c.5089C>A (p.His1697Asn)
1g.207611805C>GCA344545191CR1c.6424C>G (p.His2142Asp)
c.5074C>G (p.His1692Asp)
c.1180-4770C>G
c.6439C>G (p.His2147Asp)
c.5089C>G (p.His1697Asp)
1g.207611805C>TCA344545190CR1c.6424C>T (p.His2142Tyr)
c.5074C>T (p.His1692Tyr)
c.1180-4770C>T
c.6439C>T (p.His2147Tyr)
c.5089C>T (p.His1697Tyr)
1g.207611806A>CCA344545193CR1c.6425A>C (p.His2142Pro)
c.5075A>C (p.His1692Pro)
c.1180-4769A>C
c.6440A>C (p.His2147Pro)
c.5090A>C (p.His1697Pro)
1g.207611806A>GCA344545194CR1c.6425A>G (p.His2142Arg)
c.5075A>G (p.His1692Arg)
c.1180-4769A>G
c.6440A>G (p.His2147Arg)
c.5090A>G (p.His1697Arg)
1g.207611806A>TCA344545195CR1c.6425A>T (p.His2142Leu)
c.5075A>T (p.His1692Leu)
c.1180-4769A>T
c.6440A>T (p.His2147Leu)
c.5090A>T (p.His1697Leu)
1g.207611807C>ACA344545196CR1c.6426C>A (p.His2142Gln)
c.5076C>A (p.His1692Gln)
c.1180-4768C>A
c.6441C>A (p.His2147Gln)
c.5091C>A (p.His1697Gln)
1g.207611807C=CA2483456567CR1c.6426C= (p.His2142=)
c.5076C= (p.His1692=)
c.1180-4768C=
c.6441C= (p.His2147=)
c.5091C= (p.His1697=)
1g.207611807C>GCA344545197CR1c.6426C>G (p.His2142Gln)
c.5076C>G (p.His1692Gln)
c.1180-4768C>G
c.6441C>G (p.His2147Gln)
c.5091C>G (p.His1697Gln)
1g.207611807C>TCA1370439CR1c.6426C>T (p.His2142=)
c.5076C>T (p.His1692=)
c.1180-4768C>T
c.6441C>T (p.His2147=)
c.5091C>T (p.His1697=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611808T>ACA344545198CR1c.6427T>A (p.Cys2143Ser)
c.5077T>A (p.Cys1693Ser)
c.1180-4767T>A
c.6442T>A (p.Cys2148Ser)
c.5092T>A (p.Cys1698Ser)
 COSMIC COSMIC
1g.207611808T>CCA1370440CR1c.6427T>C (p.Cys2143Arg)
c.5077T>C (p.Cys1693Arg)
c.1180-4767T>C
c.6442T>C (p.Cys2148Arg)
c.5092T>C (p.Cys1698Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611808T>GCA344545199CR1c.6427T>G (p.Cys2143Gly)
c.5077T>G (p.Cys1693Gly)
c.1180-4767T>G
c.6442T>G (p.Cys2148Gly)
c.5092T>G (p.Cys1698Gly)
1g.207611808T=CA2483456568CR1c.6427T= (p.Cys2143=)
c.5077T= (p.Cys1693=)
c.1180-4767T=
c.6442T= (p.Cys2148=)
c.5092T= (p.Cys1698=)
1g.207611809G>ACA344545200CR1c.6428G>A (p.Cys2143Tyr)
c.5078G>A (p.Cys1693Tyr)
c.1180-4766G>A
c.6443G>A (p.Cys2148Tyr)
c.5093G>A (p.Cys1698Tyr)
1g.207611809G>CCA344545201CR1c.6428G>C (p.Cys2143Ser)
c.5078G>C (p.Cys1693Ser)
c.1180-4766G>C
c.6443G>C (p.Cys2148Ser)
c.5093G>C (p.Cys1698Ser)
1g.207611809G>TCA344545202CR1c.6428G>T (p.Cys2143Phe)
c.5078G>T (p.Cys1693Phe)
c.1180-4766G>T
c.6443G>T (p.Cys2148Phe)
c.5093G>T (p.Cys1698Phe)
1g.207611810C>ACA344545203CR1c.6429C>A (p.Cys2143Ter)
c.5079C>A (p.Cys1693Ter)
c.1180-4765C>A
c.6444C>A (p.Cys2148Ter)
c.5094C>A (p.Cys1698Ter)
1g.207611810C=CA2483456569CR1c.6429C= (p.Cys2143=)
c.5079C= (p.Cys1693=)
c.1180-4765C=
c.6444C= (p.Cys2148=)
c.5094C= (p.Cys1698=)
1g.207611810C>GCA344545204CR1c.6429C>G (p.Cys2143Trp)
c.5079C>G (p.Cys1693Trp)
c.1180-4765C>G
c.6444C>G (p.Cys2148Trp)
c.5094C>G (p.Cys1698Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.207611810C>TCA422973053CR1c.6429C>T (p.Cys2143=)
c.5079C>T (p.Cys1693=)
c.1180-4765C>T
c.6444C>T (p.Cys2148=)
c.5094C>T (p.Cys1698=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611811A>CCA344545206CR1c.6430A>C (p.Thr2144Pro)
c.5080A>C (p.Thr1694Pro)
c.1180-4764A>C
c.6445A>C (p.Thr2149Pro)
c.5095A>C (p.Thr1699Pro)
1g.207611811A>GCA344545207CR1c.6430A>G (p.Thr2144Ala)
c.5080A>G (p.Thr1694Ala)
c.1180-4764A>G
c.6445A>G (p.Thr2149Ala)
c.5095A>G (p.Thr1699Ala)
 ClinVar
1g.207611811A>TCA344545205CR1c.6430A>T (p.Thr2144Ser)
c.5080A>T (p.Thr1694Ser)
c.1180-4764A>T
c.6445A>T (p.Thr2149Ser)
c.5095A>T (p.Thr1699Ser)
1g.207611812C>ACA344545208CR1c.6431C>A (p.Thr2144Lys)
c.5081C>A (p.Thr1694Lys)
c.1180-4763C>A
c.6446C>A (p.Thr2149Lys)
c.5096C>A (p.Thr1699Lys)
 dbSNP gnomAD v4
1g.207611812C=CA1143725981CR1c.6431C= (p.Thr2144=)
c.5081C= (p.Thr1694=)
c.1180-4763C=
c.6446C= (p.Thr2149=)
c.5096C= (p.Thr1699=)
1g.207611812C>GCA344545209CR1c.6431C>G (p.Thr2144Arg)
c.5081C>G (p.Thr1694Arg)
c.1180-4763C>G
c.6446C>G (p.Thr2149Arg)
c.5096C>G (p.Thr1699Arg)
1g.207611812C>TCA1370441CR1c.6431C>T (p.Thr2144Met)
c.5081C>T (p.Thr1694Met)
c.1180-4763C>T
c.6446C>T (p.Thr2149Met)
c.5096C>T (p.Thr1699Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611813G>ACA1370442CR1c.6432G>A (p.Thr2144=)
c.5082G>A (p.Thr1694=)
c.1180-4762G>A
c.6447G>A (p.Thr2149=)
c.5097G>A (p.Thr1699=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611813G>CCA422973060CR1c.6432G>C (p.Thr2144=)
c.5082G>C (p.Thr1694=)
c.1180-4762G>C
c.6447G>C (p.Thr2149=)
c.5097G>C (p.Thr1699=)
1g.207611813G=CA1143950609CR1c.6432G= (p.Thr2144=)
c.5082G= (p.Thr1694=)
c.1180-4762G=
c.6447G= (p.Thr2149=)
c.5097G= (p.Thr1699=)
1g.207611813G>TCA422973059CR1c.6432G>T (p.Thr2144=)
c.5082G>T (p.Thr1694=)
c.1180-4762G>T
c.6447G>T (p.Thr2149=)
c.5097G>T (p.Thr1699=)
1g.207611814C>ACA344545210CR1c.6433C>A (p.Pro2145Thr)
c.5083C>A (p.Pro1695Thr)
c.1180-4761C>A
c.6448C>A (p.Pro2150Thr)
c.5098C>A (p.Pro1700Thr)
1g.207611814C>GCA344545211CR1c.6433C>G (p.Pro2145Ala)
c.5083C>G (p.Pro1695Ala)
c.1180-4761C>G
c.6448C>G (p.Pro2150Ala)
c.5098C>G (p.Pro1700Ala)
1g.207611814C>TCA344545212CR1c.6433C>T (p.Pro2145Ser)
c.5083C>T (p.Pro1695Ser)
c.1180-4761C>T
c.6448C>T (p.Pro2150Ser)
c.5098C>T (p.Pro1700Ser)
1g.207611815C>ACA344545213CR1c.6434C>A (p.Pro2145His)
c.5084C>A (p.Pro1695His)
c.1180-4760C>A
c.6449C>A (p.Pro2150His)
c.5099C>A (p.Pro1700His)
 COSMIC COSMIC
1g.207611815C=CA2483456570CR1c.6434C= (p.Pro2145=)
c.5084C= (p.Pro1695=)
c.1180-4760C=
c.6449C= (p.Pro2150=)
c.5099C= (p.Pro1700=)
1g.207611815C>GCA344545214CR1c.6434C>G (p.Pro2145Arg)
c.5084C>G (p.Pro1695Arg)
c.1180-4760C>G
c.6449C>G (p.Pro2150Arg)
c.5099C>G (p.Pro1700Arg)
1g.207611815C>TCA1370443CR1c.6434C>T (p.Pro2145Leu)
c.5084C>T (p.Pro1695Leu)
c.1180-4760C>T
c.6449C>T (p.Pro2150Leu)
c.5099C>T (p.Pro1700Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611816C>ACA422973066CR1c.6435C>A (p.Pro2145=)
c.5085C>A (p.Pro1695=)
c.1180-4759C>A
c.6450C>A (p.Pro2150=)
c.5100C>A (p.Pro1700=)
1g.207611816C=CA2483456571CR1c.6435C= (p.Pro2145=)
c.5085C= (p.Pro1695=)
c.1180-4759C=
c.6450C= (p.Pro2150=)
c.5100C= (p.Pro1700=)
1g.207611816C>GCA422973068CR1c.6435C>G (p.Pro2145=)
c.5085C>G (p.Pro1695=)
c.1180-4759C>G
c.6450C>G (p.Pro2150=)
c.5100C>G (p.Pro1700=)
1g.207611816C>TCA422973069CR1c.6435C>T (p.Pro2145=)
c.5085C>T (p.Pro1695=)
c.1180-4759C>T
c.6450C>T (p.Pro2150=)
c.5100C>T (p.Pro1700=)
 dbSNP gnomAD v2 gnomAD v4
1g.207611817C>ACA344545215CR1c.6436C>A (p.Gln2146Lys)
c.5086C>A (p.Gln1696Lys)
c.1180-4758C>A
c.6451C>A (p.Gln2151Lys)
c.5101C>A (p.Gln1701Lys)
1g.207611817C=CA2483456572CR1c.6436C= (p.Gln2146=)
c.5086C= (p.Gln1696=)
c.1180-4758C=
c.6451C= (p.Gln2151=)
c.5101C= (p.Gln1701=)
1g.207611817C>GCA344545216CR1c.6436C>G (p.Gln2146Glu)
c.5086C>G (p.Gln1696Glu)
c.1180-4758C>G
c.6451C>G (p.Gln2151Glu)
c.5101C>G (p.Gln1701Glu)
 gnomAD v4
1g.207611817C>TCA344545217CR1c.6436C>T (p.Gln2146Ter)
c.5086C>T (p.Gln1696Ter)
c.1180-4758C>T
c.6451C>T (p.Gln2151Ter)
c.5101C>T (p.Gln1701Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.207611818A=CA2483456573CR1c.6437A= (p.Gln2146=)
c.5087A= (p.Gln1696=)
c.1180-4757A=
c.6452A= (p.Gln2151=)
c.5102A= (p.Gln1701=)
1g.207611818A>CCA344545220CR1c.6437A>C (p.Gln2146Pro)
c.5087A>C (p.Gln1696Pro)
c.1180-4757A>C
c.6452A>C (p.Gln2151Pro)
c.5102A>C (p.Gln1701Pro)
1g.207611818A>GCA344545218CR1c.6437A>G (p.Gln2146Arg)
c.5087A>G (p.Gln1696Arg)
c.1180-4757A>G
c.6452A>G (p.Gln2151Arg)
c.5102A>G (p.Gln1701Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611818A>TCA344545219CR1c.6437A>T (p.Gln2146Leu)
c.5087A>T (p.Gln1696Leu)
c.1180-4757A>T
c.6452A>T (p.Gln2151Leu)
c.5102A>T (p.Gln1701Leu)
1g.207611819G>ACA1370444CR1c.6438G>A (p.Gln2146=)
c.5088G>A (p.Gln1696=)
c.1180-4756G>A
c.6453G>A (p.Gln2151=)
c.5103G>A (p.Gln1701=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611819G>CCA344545221CR1c.6438G>C (p.Gln2146His)
c.5088G>C (p.Gln1696His)
c.1180-4756G>C
c.6453G>C (p.Gln2151His)
c.5103G>C (p.Gln1701His)
 dbSNP gnomAD v2 gnomAD v4
1g.207611819G=CA1146107567CR1c.6438G= (p.Gln2146=)
c.5088G= (p.Gln1696=)
c.1180-4756G=
c.6453G= (p.Gln2151=)
c.5103G= (p.Gln1701=)
1g.207611819G>TCA344545222CR1c.6438G>T (p.Gln2146His)
c.5088G>T (p.Gln1696His)
c.1180-4756G>T
c.6453G>T (p.Gln2151His)
c.5103G>T (p.Gln1701His)
1g.207611820G>ACA344545223CR1c.6439G>A (p.Gly2147Arg)
c.5089G>A (p.Gly1697Arg)
c.1180-4755G>A
c.6454G>A (p.Gly2152Arg)
c.5104G>A (p.Gly1702Arg)
1g.207611820G>CCA344545224CR1c.6439G>C (p.Gly2147Arg)
c.5089G>C (p.Gly1697Arg)
c.1180-4755G>C
c.6454G>C (p.Gly2152Arg)
c.5104G>C (p.Gly1702Arg)
 COSMIC COSMIC
1g.207611820G>TCA344545225CR1c.6439G>T (p.Gly2147Ter)
c.5089G>T (p.Gly1697Ter)
c.1180-4755G>T
c.6454G>T (p.Gly2152Ter)
c.5104G>T (p.Gly1702Ter)
1g.207611821G>ACA344545226CR1c.6440G>A (p.Gly2147Glu)
c.5090G>A (p.Gly1697Glu)
c.1180-4754G>A
c.6455G>A (p.Gly2152Glu)
c.5105G>A (p.Gly1702Glu)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.207611821G>CCA344545227CR1c.6440G>C (p.Gly2147Ala)
c.5090G>C (p.Gly1697Ala)
c.1180-4754G>C
c.6455G>C (p.Gly2152Ala)
c.5105G>C (p.Gly1702Ala)
1g.207611821G=CA2483456574CR1c.6440G= (p.Gly2147=)
c.5090G= (p.Gly1697=)
c.1180-4754G=
c.6455G= (p.Gly2152=)
c.5105G= (p.Gly1702=)
1g.207611821G>TCA344545228CR1c.6440G>T (p.Gly2147Val)
c.5090G>T (p.Gly1697Val)
c.1180-4754G>T
c.6455G>T (p.Gly2152Val)
c.5105G>T (p.Gly1702Val)
1g.207611822A>CCA422973092CR1c.6441A>C (p.Gly2147=)
c.5091A>C (p.Gly1697=)
c.1180-4753A>C
c.6456A>C (p.Gly2152=)
c.5106A>C (p.Gly1702=)
1g.207611822A>GCA422973088CR1c.6441A>G (p.Gly2147=)
c.5091A>G (p.Gly1697=)
c.1180-4753A>G
c.6456A>G (p.Gly2152=)
c.5106A>G (p.Gly1702=)
1g.207611822A>TCA422973091CR1c.6441A>T (p.Gly2147=)
c.5091A>T (p.Gly1697=)
c.1180-4753A>T
c.6456A>T (p.Gly2152=)
c.5106A>T (p.Gly1702=)
1g.207611823G>ACA344545229CR1c.6442G>A (p.Asp2148Asn)
c.5092G>A (p.Asp1698Asn)
c.1180-4752G>A
c.6457G>A (p.Asp2153Asn)
c.5107G>A (p.Asp1703Asn)
1g.207611823G>CCA344545230CR1c.6442G>C (p.Asp2148His)
c.5092G>C (p.Asp1698His)
c.1180-4752G>C
c.6457G>C (p.Asp2153His)
c.5107G>C (p.Asp1703His)
1g.207611823G>TCA344545231CR1c.6442G>T (p.Asp2148Tyr)
c.5092G>T (p.Asp1698Tyr)
c.1180-4752G>T
c.6457G>T (p.Asp2153Tyr)
c.5107G>T (p.Asp1703Tyr)
1g.207611824A=CA2483456575CR1c.6443A= (p.Asp2148=)
c.5093A= (p.Asp1698=)
c.1180-4751A=
c.6458A= (p.Asp2153=)
c.5108A= (p.Asp1703=)
1g.207611824A>CCA344545232CR1c.6443A>C (p.Asp2148Ala)
c.5093A>C (p.Asp1698Ala)
c.1180-4751A>C
c.6458A>C (p.Asp2153Ala)
c.5108A>C (p.Asp1703Ala)
1g.207611824A>GCA344545234CR1c.6443A>G (p.Asp2148Gly)
c.5093A>G (p.Asp1698Gly)
c.1180-4751A>G
c.6458A>G (p.Asp2153Gly)
c.5108A>G (p.Asp1703Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611824A>TCA344545233CR1c.6443A>T (p.Asp2148Val)
c.5093A>T (p.Asp1698Val)
c.1180-4751A>T
c.6458A>T (p.Asp2153Val)
c.5108A>T (p.Asp1703Val)
1g.207611825C>ACA344545235CR1c.6444C>A (p.Asp2148Glu)
c.5094C>A (p.Asp1698Glu)
c.1180-4750C>A
c.6459C>A (p.Asp2153Glu)
c.5109C>A (p.Asp1703Glu)
1g.207611825C>GCA344545236CR1c.6444C>G (p.Asp2148Glu)
c.5094C>G (p.Asp1698Glu)
c.1180-4750C>G
c.6459C>G (p.Asp2153Glu)
c.5109C>G (p.Asp1703Glu)
1g.207611825C>TCA422973105CR1c.6444C>T (p.Asp2148=)
c.5094C>T (p.Asp1698=)
c.1180-4750C>T
c.6459C>T (p.Asp2153=)
c.5109C>T (p.Asp1703=)
1g.207611828_207611835dupCA2527680478CR1c.6447_6454dup (p.Glu2152GlyfsTer10)
c.5097_5104dup (p.Glu1702GlyfsTer10)
c.1180-4747_1180-4740dup
c.6462_6469dup (p.Glu2157GlyfsTer10)
c.5112_5119dup (p.Glu1707GlyfsTer10)
1g.207611826T>ACA344545237CR1c.6445T>A (p.Trp2149Arg)
c.5095T>A (p.Trp1699Arg)
c.1180-4749T>A
c.6460T>A (p.Trp2154Arg)
c.5110T>A (p.Trp1704Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.207611826T>CCA344545238CR1c.6445T>C (p.Trp2149Arg)
c.5095T>C (p.Trp1699Arg)
c.1180-4749T>C
c.6460T>C (p.Trp2154Arg)
c.5110T>C (p.Trp1704Arg)
1g.207611826T>GCA344545239CR1c.6445T>G (p.Trp2149Gly)
c.5095T>G (p.Trp1699Gly)
c.1180-4749T>G
c.6460T>G (p.Trp2154Gly)
c.5110T>G (p.Trp1704Gly)
1g.207611826T=CA2483456576CR1c.6445T= (p.Trp2149=)
c.5095T= (p.Trp1699=)
c.1180-4749T=
c.6460T= (p.Trp2154=)
c.5110T= (p.Trp1704=)
1g.207611827G>ACA344545242CR1c.6446G>A (p.Trp2149Ter)
c.5096G>A (p.Trp1699Ter)
c.1180-4748G>A
c.6461G>A (p.Trp2154Ter)
c.5111G>A (p.Trp1704Ter)
1g.207611827G>CCA344545241CR1c.6446G>C (p.Trp2149Ser)
c.5096G>C (p.Trp1699Ser)
c.1180-4748G>C
c.6461G>C (p.Trp2154Ser)
c.5111G>C (p.Trp1704Ser)
1g.207611827G>TCA344545240CR1c.6446G>T (p.Trp2149Leu)
c.5096G>T (p.Trp1699Leu)
c.1180-4748G>T
c.6461G>T (p.Trp2154Leu)
c.5111G>T (p.Trp1704Leu)
1g.207611828G>ACA344545243CR1c.6447G>A (p.Trp2149Ter)
c.5097G>A (p.Trp1699Ter)
c.1180-4747G>A
c.6462G>A (p.Trp2154Ter)
c.5112G>A (p.Trp1704Ter)
 gnomAD v4
1g.207611828G>CCA344545244CR1c.6447G>C (p.Trp2149Cys)
c.5097G>C (p.Trp1699Cys)
c.1180-4747G>C
c.6462G>C (p.Trp2154Cys)
c.5112G>C (p.Trp1704Cys)
 gnomAD v4
1g.207611828G>TCA344545245CR1c.6447G>T (p.Trp2149Cys)
c.5097G>T (p.Trp1699Cys)
c.1180-4747G>T
c.6462G>T (p.Trp2154Cys)
c.5112G>T (p.Trp1704Cys)
1g.207611829A>CCA344545246CR1c.6448A>C (p.Ser2150Arg)
c.5098A>C (p.Ser1700Arg)
c.1180-4746A>C
c.6463A>C (p.Ser2155Arg)
c.5113A>C (p.Ser1705Arg)
1g.207611829A>GCA344545247CR1c.6448A>G (p.Ser2150Gly)
c.5098A>G (p.Ser1700Gly)
c.1180-4746A>G
c.6463A>G (p.Ser2155Gly)
c.5113A>G (p.Ser1705Gly)
1g.207611829A>TCA344545248CR1c.6448A>T (p.Ser2150Cys)
c.5098A>T (p.Ser1700Cys)
c.1180-4746A>T
c.6463A>T (p.Ser2155Cys)
c.5113A>T (p.Ser1705Cys)
1g.207611830G>ACA1370445CR1c.6449G>A (p.Ser2150Asn)
c.5099G>A (p.Ser1700Asn)
c.1180-4745G>A
c.6464G>A (p.Ser2155Asn)
c.5114G>A (p.Ser1705Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611830G>CCA344545249CR1c.6449G>C (p.Ser2150Thr)
c.5099G>C (p.Ser1700Thr)
c.1180-4745G>C
c.6464G>C (p.Ser2155Thr)
c.5114G>C (p.Ser1705Thr)
1g.207611830G=CA2483456577CR1c.6449G= (p.Ser2150=)
c.5099G= (p.Ser1700=)
c.1180-4745G=
c.6464G= (p.Ser2155=)
c.5114G= (p.Ser1705=)
1g.207611830G>TCA344545250CR1c.6449G>T (p.Ser2150Ile)
c.5099G>T (p.Ser1700Ile)
c.1180-4745G>T
c.6464G>T (p.Ser2155Ile)
c.5114G>T (p.Ser1705Ile)
1g.207611831C>ACA36655236CR1c.6450C>A (p.Ser2150Arg)
c.5100C>A (p.Ser1700Arg)
c.1180-4744C>A
c.6465C>A (p.Ser2155Arg)
c.5115C>A (p.Ser1705Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.207611831C=CA2483456578CR1c.6450C= (p.Ser2150=)
c.5100C= (p.Ser1700=)
c.1180-4744C=
c.6465C= (p.Ser2155=)
c.5115C= (p.Ser1705=)
1g.207611831C>GCA344545251CR1c.6450C>G (p.Ser2150Arg)
c.5100C>G (p.Ser1700Arg)
c.1180-4744C>G
c.6465C>G (p.Ser2155Arg)
c.5115C>G (p.Ser1705Arg)
1g.207611831C>TCA422973130CR1c.6450C>T (p.Ser2150=)
c.5100C>T (p.Ser1700=)
c.1180-4744C>T
c.6465C>T (p.Ser2155=)
c.5115C>T (p.Ser1705=)
1g.207611832C>ACA344545252CR1c.6451C>A (p.Pro2151Thr)
c.5101C>A (p.Pro1701Thr)
c.1180-4743C>A
c.6466C>A (p.Pro2156Thr)
c.5116C>A (p.Pro1706Thr)
 gnomAD v4
1g.207611832C>GCA344545253CR1c.6451C>G (p.Pro2151Ala)
c.5101C>G (p.Pro1701Ala)
c.1180-4743C>G
c.6466C>G (p.Pro2156Ala)
c.5116C>G (p.Pro1706Ala)
1g.207611832C>TCA344545254CR1c.6451C>T (p.Pro2151Ser)
c.5101C>T (p.Pro1701Ser)
c.1180-4743C>T
c.6466C>T (p.Pro2156Ser)
c.5116C>T (p.Pro1706Ser)
1g.207611833C>ACA344545255CR1c.6452C>A (p.Pro2151His)
c.5102C>A (p.Pro1701His)
c.1180-4742C>A
c.6467C>A (p.Pro2156His)
c.5117C>A (p.Pro1706His)
1g.207611833C=CA2483456579CR1c.6452C= (p.Pro2151=)
c.5102C= (p.Pro1701=)
c.1180-4742C=
c.6467C= (p.Pro2156=)
c.5117C= (p.Pro1706=)
1g.207611833C>GCA344545256CR1c.6452C>G (p.Pro2151Arg)
c.5102C>G (p.Pro1701Arg)
c.1180-4742C>G
c.6467C>G (p.Pro2156Arg)
c.5117C>G (p.Pro1706Arg)
1g.207611833C>TCA344545257CR1c.6452C>T (p.Pro2151Leu)
c.5102C>T (p.Pro1701Leu)
c.1180-4742C>T
c.6467C>T (p.Pro2156Leu)
c.5117C>T (p.Pro1706Leu)
1g.207611834T>ACA422973137CR1c.6453T>A (p.Pro2151=)
c.5103T>A (p.Pro1701=)
c.1180-4741T>A
c.6468T>A (p.Pro2156=)
c.5118T>A (p.Pro1706=)
1g.207611834T>CCA36655238CR1c.6453T>C (p.Pro2151=)
c.5103T>C (p.Pro1701=)
c.1180-4741T>C
c.6468T>C (p.Pro2156=)
c.5118T>C (p.Pro1706=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611834T>GCA422973139CR1c.6453T>G (p.Pro2151=)
c.5103T>G (p.Pro1701=)
c.1180-4741T>G
c.6468T>G (p.Pro2156=)
c.5118T>G (p.Pro1706=)
1g.207611834T=CA2483456580CR1c.6453T= (p.Pro2151=)
c.5103T= (p.Pro1701=)
c.1180-4741T=
c.6468T= (p.Pro2156=)
c.5118T= (p.Pro1706=)
1g.207611834dupCA1370446CR1c.6453dup (p.Glu2152Ter)
c.5103dup (p.Glu1702Ter)
c.1180-4741dup
c.6468dup (p.Glu2157Ter)
c.5118dup (p.Glu1707Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611835G>ACA1370447CR1c.6454G>A (p.Glu2152Lys)
c.5104G>A (p.Glu1702Lys)
c.1180-4740G>A
c.6469G>A (p.Glu2157Lys)
c.5119G>A (p.Glu1707Lys)
 dbSNP ExAC gnomAD v2
1g.207611835G>CCA344545258CR1c.6454G>C (p.Glu2152Gln)
c.5104G>C (p.Glu1702Gln)
c.1180-4740G>C
c.6469G>C (p.Glu2157Gln)
c.5119G>C (p.Glu1707Gln)
1g.207611835G=CA2483456581CR1c.6454G= (p.Glu2152=)
c.5104G= (p.Glu1702=)
c.1180-4740G=
c.6469G= (p.Glu2157=)
c.5119G= (p.Glu1707=)
1g.207611835G>TCA344545259CR1c.6454G>T (p.Glu2152Ter)
c.5104G>T (p.Glu1702Ter)
c.1180-4740G>T
c.6469G>T (p.Glu2157Ter)
c.5119G>T (p.Glu1707Ter)
 COSMIC COSMIC
1g.207611836A>CCA344545260CR1c.6455A>C (p.Glu2152Ala)
c.5105A>C (p.Glu1702Ala)
c.1180-4739A>C
c.6470A>C (p.Glu2157Ala)
c.5120A>C (p.Glu1707Ala)
1g.207611836A>GCA344545262CR1c.6455A>G (p.Glu2152Gly)
c.5105A>G (p.Glu1702Gly)
c.1180-4739A>G
c.6470A>G (p.Glu2157Gly)
c.5120A>G (p.Glu1707Gly)
1g.207611836A>TCA344545261CR1c.6455A>T (p.Glu2152Val)
c.5105A>T (p.Glu1702Val)
c.1180-4739A>T
c.6470A>T (p.Glu2157Val)
c.5120A>T (p.Glu1707Val)
1g.207611837A>CCA344545263CR1c.6456A>C (p.Glu2152Asp)
c.5106A>C (p.Glu1702Asp)
c.1180-4738A>C
c.6471A>C (p.Glu2157Asp)
c.5121A>C (p.Glu1707Asp)
1g.207611837A>GCA422973145CR1c.6456A>G (p.Glu2152=)
c.5106A>G (p.Glu1702=)
c.1180-4738A>G
c.6471A>G (p.Glu2157=)
c.5121A>G (p.Glu1707=)
1g.207611837A>TCA344545264CR1c.6456A>T (p.Glu2152Asp)
c.5106A>T (p.Glu1702Asp)
c.1180-4738A>T
c.6471A>T (p.Glu2157Asp)
c.5121A>T (p.Glu1707Asp)
1g.207611838G>ACA344545265CR1c.6457G>A (p.Ala2153Thr)
c.5107G>A (p.Ala1703Thr)
c.1180-4737G>A
c.6472G>A (p.Ala2158Thr)
c.5122G>A (p.Ala1708Thr)
1g.207611838G>CCA344545266CR1c.6457G>C (p.Ala2153Pro)
c.5107G>C (p.Ala1703Pro)
c.1180-4737G>C
c.6472G>C (p.Ala2158Pro)
c.5122G>C (p.Ala1708Pro)
1g.207611838G>TCA344545267CR1c.6457G>T (p.Ala2153Ser)
c.5107G>T (p.Ala1703Ser)
c.1180-4737G>T
c.6472G>T (p.Ala2158Ser)
c.5122G>T (p.Ala1708Ser)
1g.207611839C>ACA344545268CR1c.6458C>A (p.Ala2153Asp)
c.5108C>A (p.Ala1703Asp)
c.1180-4736C>A
c.6473C>A (p.Ala2158Asp)
c.5123C>A (p.Ala1708Asp)
1g.207611839C=CA2483456582CR1c.6458C= (p.Ala2153=)
c.5108C= (p.Ala1703=)
c.1180-4736C=
c.6473C= (p.Ala2158=)
c.5123C= (p.Ala1708=)
1g.207611839C>GCA344545269CR1c.6458C>G (p.Ala2153Gly)
c.5108C>G (p.Ala1703Gly)
c.1180-4736C>G
c.6473C>G (p.Ala2158Gly)
c.5123C>G (p.Ala1708Gly)
1g.207611839C>TCA1370448CR1c.6458C>T (p.Ala2153Val)
c.5108C>T (p.Ala1703Val)
c.1180-4736C>T
c.6473C>T (p.Ala2158Val)
c.5123C>T (p.Ala1708Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611839_207611843delCA2650269922CR1c.6458_6462del (p.Ala2153GlufsTer8)
c.5108_5112del (p.Ala1703GlufsTer8)
c.1180-4736_1180-4732del
c.6473_6477del (p.Ala2158GlufsTer8)
c.5123_5127del (p.Ala1708GlufsTer8)
 gnomAD v4
1g.207611840C>ACA422973155CR1c.6459C>A (p.Ala2153=)
c.5109C>A (p.Ala1703=)
c.1180-4735C>A
c.6474C>A (p.Ala2158=)
c.5124C>A (p.Ala1708=)
1g.207611840C>GCA422973156CR1c.6459C>G (p.Ala2153=)
c.5109C>G (p.Ala1703=)
c.1180-4735C>G
c.6474C>G (p.Ala2158=)
c.5124C>G (p.Ala1708=)
1g.207611840C>TCA422973158CR1c.6459C>T (p.Ala2153=)
c.5109C>T (p.Ala1703=)
c.1180-4735C>T
c.6474C>T (p.Ala2158=)
c.5124C>T (p.Ala1708=)
1g.207611841C>ACA344545270CR1c.6460C>A (p.Pro2154Thr)
c.5110C>A (p.Pro1704Thr)
c.1180-4734C>A
c.6475C>A (p.Pro2159Thr)
c.5125C>A (p.Pro1709Thr)
1g.207611841C>GCA344545271CR1c.6460C>G (p.Pro2154Ala)
c.5110C>G (p.Pro1704Ala)
c.1180-4734C>G
c.6475C>G (p.Pro2159Ala)
c.5125C>G (p.Pro1709Ala)
 gnomAD v4
1g.207611841C>TCA344545272CR1c.6460C>T (p.Pro2154Ser)
c.5110C>T (p.Pro1704Ser)
c.1180-4734C>T
c.6475C>T (p.Pro2159Ser)
c.5125C>T (p.Pro1709Ser)
1g.207611842C>ACA344545275CR1c.6461C>A (p.Pro2154His)
c.5111C>A (p.Pro1704His)
c.1180-4733C>A
c.6476C>A (p.Pro2159His)
c.5126C>A (p.Pro1709His)
1g.207611842C>GCA344545274CR1c.6461C>G (p.Pro2154Arg)
c.5111C>G (p.Pro1704Arg)
c.1180-4733C>G
c.6476C>G (p.Pro2159Arg)
c.5126C>G (p.Pro1709Arg)
1g.207611842C>TCA344545273CR1c.6461C>T (p.Pro2154Leu)
c.5111C>T (p.Pro1704Leu)
c.1180-4733C>T
c.6476C>T (p.Pro2159Leu)
c.5126C>T (p.Pro1709Leu)
 gnomAD v4
1g.207611843T>ACA422973168CR1c.6462T>A (p.Pro2154=)
c.5112T>A (p.Pro1704=)
c.1180-4732T>A
c.6477T>A (p.Pro2159=)
c.5127T>A (p.Pro1709=)
1g.207611843T>CCA1370449CR1c.6462T>C (p.Pro2154=)
c.5112T>C (p.Pro1704=)
c.1180-4732T>C
c.6477T>C (p.Pro2159=)
c.5127T>C (p.Pro1709=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611843T>GCA422973170CR1c.6462T>G (p.Pro2154=)
c.5112T>G (p.Pro1704=)
c.1180-4732T>G
c.6477T>G (p.Pro2159=)
c.5127T>G (p.Pro1709=)
1g.207611843T=CA1143532624CR1c.6462T= (p.Pro2154=)
c.5112T= (p.Pro1704=)
c.1180-4732T=
c.6477T= (p.Pro2159=)
c.5127T= (p.Pro1709=)
1g.207611844A>CCA422973172CR1c.6463A>C (p.Arg2155=)
c.5113A>C (p.Arg1705=)
c.1180-4731A>C
c.6478A>C (p.Arg2160=)
c.5128A>C (p.Arg1710=)
1g.207611844A>GCA344545276CR1c.6463A>G (p.Arg2155Gly)
c.5113A>G (p.Arg1705Gly)
c.1180-4731A>G
c.6478A>G (p.Arg2160Gly)
c.5128A>G (p.Arg1710Gly)
 gnomAD v4
1g.207611844A>TCA344545277CR1c.6463A>T (p.Arg2155Ter)
c.5113A>T (p.Arg1705Ter)
c.1180-4731A>T
c.6478A>T (p.Arg2160Ter)
c.5128A>T (p.Arg1710Ter)
1g.207611845G>ACA344545278CR1c.6464G>A (p.Arg2155Lys)
c.5114G>A (p.Arg1705Lys)
c.1180-4730G>A
c.6479G>A (p.Arg2160Lys)
c.5129G>A (p.Arg1710Lys)
1g.207611845G>CCA344545279CR1c.6464G>C (p.Arg2155Thr)
c.5114G>C (p.Arg1705Thr)
c.1180-4730G>C
c.6479G>C (p.Arg2160Thr)
c.5129G>C (p.Arg1710Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.207611845G=CA2483456583CR1c.6464G= (p.Arg2155=)
c.5114G= (p.Arg1705=)
c.1180-4730G=
c.6479G= (p.Arg2160=)
c.5129G= (p.Arg1710=)
1g.207611845G>TCA344545280CR1c.6464G>T (p.Arg2155Ile)
c.5114G>T (p.Arg1705Ile)
c.1180-4730G>T
c.6479G>T (p.Arg2160Ile)
c.5129G>T (p.Arg1710Ile)
1g.207611846A=CA2483456584CR1c.6465A= (p.Arg2155=)
c.5115A= (p.Arg1705=)
c.1180-4729A=
c.6480A= (p.Arg2160=)
c.5130A= (p.Arg1710=)
1g.207611846A>CCA344545281CR1c.6465A>C (p.Arg2155Ser)
c.5115A>C (p.Arg1705Ser)
c.1180-4729A>C
c.6480A>C (p.Arg2160Ser)
c.5130A>C (p.Arg1710Ser)
1g.207611846A>GCA36655244CR1c.6465A>G (p.Arg2155=)
c.5115A>G (p.Arg1705=)
c.1180-4729A>G
c.6480A>G (p.Arg2160=)
c.5130A>G (p.Arg1710=)
 dbSNP gnomAD v4
1g.207611846A>TCA344545282CR1c.6465A>T (p.Arg2155Ser)
c.5115A>T (p.Arg1705Ser)
c.1180-4729A>T
c.6480A>T (p.Arg2160Ser)
c.5130A>T (p.Arg1710Ser)
 dbSNP
1g.207611847T>ACA344545283CR1c.6466T>A (p.Cys2156Ser)
c.5116T>A (p.Cys1706Ser)
c.1180-4728T>A
c.6481T>A (p.Cys2161Ser)
c.5131T>A (p.Cys1711Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611847T>CCA344545284CR1c.6466T>C (p.Cys2156Arg)
c.5116T>C (p.Cys1706Arg)
c.1180-4728T>C
c.6481T>C (p.Cys2161Arg)
c.5131T>C (p.Cys1711Arg)
 dbSNP
1g.207611847T>GCA344545285CR1c.6466T>G (p.Cys2156Gly)
c.5116T>G (p.Cys1706Gly)
c.1180-4728T>G
c.6481T>G (p.Cys2161Gly)
c.5131T>G (p.Cys1711Gly)
 gnomAD v4
1g.207611847T=CA2483456585CR1c.6466T= (p.Cys2156=)
c.5116T= (p.Cys1706=)
c.1180-4728T=
c.6481T= (p.Cys2161=)
c.5131T= (p.Cys1711=)
1g.207611848G>ACA344545286CR1c.6467G>A (p.Cys2156Tyr)
c.5117G>A (p.Cys1706Tyr)
c.1180-4727G>A
c.6482G>A (p.Cys2161Tyr)
c.5132G>A (p.Cys1711Tyr)
 gnomAD v4
1g.207611848G>CCA344545288CR1c.6467G>C (p.Cys2156Ser)
c.5117G>C (p.Cys1706Ser)
c.1180-4727G>C
c.6482G>C (p.Cys2161Ser)
c.5132G>C (p.Cys1711Ser)
1g.207611848G>TCA344545287CR1c.6467G>T (p.Cys2156Phe)
c.5117G>T (p.Cys1706Phe)
c.1180-4727G>T
c.6482G>T (p.Cys2161Phe)
c.5132G>T (p.Cys1711Phe)
1g.207611849T>ACA344545289CR1c.6468T>A (p.Cys2156Ter)
c.5118T>A (p.Cys1706Ter)
c.1180-4726T>A
c.6483T>A (p.Cys2161Ter)
c.5133T>A (p.Cys1711Ter)
 gnomAD v4
1g.207611849T>CCA422973193CR1c.6468T>C (p.Cys2156=)
c.5118T>C (p.Cys1706=)
c.1180-4726T>C
c.6483T>C (p.Cys2161=)
c.5133T>C (p.Cys1711=)
 dbSNP
1g.207611849T>GCA344545290CR1c.6468T>G (p.Cys2156Trp)
c.5118T>G (p.Cys1706Trp)
c.1180-4726T>G
c.6483T>G (p.Cys2161Trp)
c.5133T>G (p.Cys1711Trp)
1g.207611850A>CCA344545291CR1c.6469A>C (p.Thr2157Pro)
c.5119A>C (p.Thr1707Pro)
c.1180-4725A>C
c.6484A>C (p.Thr2162Pro)
c.5134A>C (p.Thr1712Pro)
 gnomAD v4
1g.207611850A>GCA344545293CR1c.6469A>G (p.Thr2157Ala)
c.5119A>G (p.Thr1707Ala)
c.1180-4725A>G
c.6484A>G (p.Thr2162Ala)
c.5134A>G (p.Thr1712Ala)
1g.207611850A>TCA344545292CR1c.6469A>T (p.Thr2157Ser)
c.5119A>T (p.Thr1707Ser)
c.1180-4725A>T
c.6484A>T (p.Thr2162Ser)
c.5134A>T (p.Thr1712Ser)
1g.207611851C>ACA344545294CR1c.6470C>A (p.Thr2157Lys)
c.5120C>A (p.Thr1707Lys)
c.1180-4724C>A
c.6485C>A (p.Thr2162Lys)
c.5135C>A (p.Thr1712Lys)
1g.207611851C>GCA344545295CR1c.6470C>G (p.Thr2157Arg)
c.5120C>G (p.Thr1707Arg)
c.1180-4724C>G
c.6485C>G (p.Thr2162Arg)
c.5135C>G (p.Thr1712Arg)
1g.207611851C>TCA344545296CR1c.6470C>T (p.Thr2157Ile)
c.5120C>T (p.Thr1707Ile)
c.1180-4724C>T
c.6485C>T (p.Thr2162Ile)
c.5135C>T (p.Thr1712Ile)
1g.207611852A>CCA422973204CR1c.6471A>C (p.Thr2157=)
c.5121A>C (p.Thr1707=)
c.1180-4723A>C
c.6486A>C (p.Thr2162=)
c.5136A>C (p.Thr1712=)
1g.207611852A>GCA422973206CR1c.6471A>G (p.Thr2157=)
c.5121A>G (p.Thr1707=)
c.1180-4723A>G
c.6486A>G (p.Thr2162=)
c.5136A>G (p.Thr1712=)
1g.207611852A>TCA422973208CR1c.6471A>T (p.Thr2157=)
c.5121A>T (p.Thr1707=)
c.1180-4723A>T
c.6486A>T (p.Thr2162=)
c.5136A>T (p.Thr1712=)
1g.207611852_207611869delinsAGGTGCCTTGACTCTCTGCA2483456586CR1c.6471_6472+16delinsAGGTGCCTTGACTCTCTG
c.5121_5122+16delinsAGGTGCCTTGACTCTCTG
c.1180-4723_1180-4706delinsAGGTGCCTTGACTCTCTG
c.6486_6487+16delinsAGGTGCCTTGACTCTCTG
c.5136_5137+16delinsAGGTGCCTTGACTCTCTG
1g.207611853G>ACA344545297CR1c.6472G>A (p.Val2158Met)
c.5122G>A (p.Val1708Met)
c.1180-4722G>A
c.6487G>A (p.Val2163Met)
c.5137G>A (p.Val1713Met)
 dbSNP gnomAD v3 gnomAD v4
1g.207611853G>CCA344545298CR1c.6472G>C (p.Val2158Leu)
c.5122G>C (p.Val1708Leu)
c.1180-4722G>C
c.6487G>C (p.Val2163Leu)
c.5137G>C (p.Val1713Leu)
1g.207611853G=CA2483456587CR1c.6472G= (p.Val2158=)
c.5122G= (p.Val1708=)
c.1180-4722G=
c.6487G= (p.Val2163=)
c.5137G= (p.Val1713=)
1g.207611853G>TCA344545299CR1c.6472G>T (p.Val2158Leu)
c.5122G>T (p.Val1708Leu)
c.1180-4722G>T
c.6487G>T (p.Val2163Leu)
c.5137G>T (p.Val1713Leu)
1g.207611853_207611870delinsGGTGCCTTGACTCTCTGGCA1145321198CR1c.6472_6472+17delinsGGTGCCTTGACTCTCTGG
c.5122_5122+17delinsGGTGCCTTGACTCTCTGG
c.1180-4722_1180-4705delinsGGTGCCTTGACTCTCTGG
c.6487_6487+17delinsGGTGCCTTGACTCTCTGG
c.5137_5137+17delinsGGTGCCTTGACTCTCTGG
1g.207611854_207611870dupCA2483456588CR1c.6472+1_6472+17dup
c.5122+1_5122+17dup
c.1180-4721_1180-4705dup
c.6487+1_6487+17dup
c.5137+1_5137+17dup
 dbSNP
1g.207611854_207611870delCA1370450CR1c.6472+1_6472+17del
c.5122+1_5122+17del
c.1180-4721_1180-4705del
c.6487+1_6487+17del
c.5137+1_5137+17del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611854G>ACA344545300CR1c.6472+1G>A (n.6472+1G>A)
c.5122+1G>A (n.5122+1G>A)
c.1180-4721G>A
c.6487+1G>A (n.6487+1G>A)
c.5137+1G>A (n.5137+1G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.207611854G>CCA344545301CR1c.6472+1G>C (n.6472+1G>C)
c.5122+1G>C (n.5122+1G>C)
c.1180-4721G>C
c.6487+1G>C (n.6487+1G>C)
c.5137+1G>C (n.5137+1G>C)
1g.207611854G=CA2483456589CR1c.6472+1G= (n.6472+1G=)
c.5122+1G= (n.5122+1G=)
c.1180-4721G=
c.6487+1G= (n.6487+1G=)
c.5137+1G= (n.5137+1G=)
1g.207611854G>TCA344545302CR1c.6472+1G>T (n.6472+1G>T)
c.5122+1G>T (n.5122+1G>T)
c.1180-4721G>T
c.6487+1G>T (n.6487+1G>T)
c.5137+1G>T (n.5137+1G>T)
1g.207611855T>ACA344545303CR1c.6472+2T>A (n.6472+2T>A)
c.5122+2T>A (n.5122+2T>A)
c.1180-4720T>A
c.6487+2T>A (n.6487+2T>A)
c.5137+2T>A (n.5137+2T>A)
1g.207611855T>CCA344545304CR1c.6472+2T>C (n.6472+2T>C)
c.5122+2T>C (n.5122+2T>C)
c.1180-4720T>C
c.6487+2T>C (n.6487+2T>C)
c.5137+2T>C (n.5137+2T>C)
1g.207611855T>GCA344545305CR1c.6472+2T>G (n.6472+2T>G)
c.5122+2T>G (n.5122+2T>G)
c.1180-4720T>G
c.6487+2T>G (n.6487+2T>G)
c.5137+2T>G (n.5137+2T>G)
1g.207611856G>ACA36655247CR1c.6472+3G>A (n.6472+3G>A)
c.5122+3G>A (n.5122+3G>A)
c.1180-4719G>A
c.6487+3G>A (n.6487+3G>A)
c.5137+3G>A (n.5137+3G>A)
 dbSNP
1g.207611856G=CA2483456590CR1c.6472+3G= (n.6472+3G=)
c.5122+3G= (n.5122+3G=)
c.1180-4719G=
c.6487+3G= (n.6487+3G=)
c.5137+3G= (n.5137+3G=)
1g.207611857C>ACA2573653828CR1c.6472+4C>A (n.6472+4C>A)
c.5122+4C>A (n.5122+4C>A)
c.1180-4718C>A
c.6487+4C>A (n.6487+4C>A)
c.5137+4C>A (n.5137+4C>A)
1g.207611857C>TCA2650269923CR1c.6472+4C>T (n.6472+4C>T)
c.5122+4C>T (n.5122+4C>T)
c.1180-4718C>T
c.6487+4C>T (n.6487+4C>T)
c.5137+4C>T (n.5137+4C>T)
 gnomAD v4
1g.207611858C=CA2483456591CR1c.6472+5C= (n.6472+5C=)
c.5122+5C= (n.5122+5C=)
c.1180-4717C=
c.6487+5C= (n.6487+5C=)
c.5137+5C= (n.5137+5C=)
1g.207611858C>TCA528999501CR1c.6472+5C>T (n.6472+5C>T)
c.5122+5C>T (n.5122+5C>T)
c.1180-4717C>T
c.6487+5C>T (n.6487+5C>T)
c.5137+5C>T (n.5137+5C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611859T>CCA2573653829CR1c.6472+6T>C (n.6472+6T>C)
c.5122+6T>C (n.5122+6T>C)
c.1180-4716T>C
c.6487+6T>C (n.6487+6T>C)
c.5137+6T>C (n.5137+6T>C)
1g.207611859T>GCA2650269924CR1c.6472+6T>G (n.6472+6T>G)
c.5122+6T>G (n.5122+6T>G)
c.1180-4716T>G
c.6487+6T>G (n.6487+6T>G)
c.5137+6T>G (n.5137+6T>G)
 gnomAD v4
1g.207611860T>CCA2650269925CR1c.6472+7T>C (n.6472+7T>C)
c.5122+7T>C (n.5122+7T>C)
c.1180-4715T>C
c.6487+7T>C (n.6487+7T>C)
c.5137+7T>C (n.5137+7T>C)
 dbSNP gnomAD v4
1g.207611860T>GCA528999502CR1c.6472+7T>G (n.6472+7T>G)
c.5122+7T>G (n.5122+7T>G)
c.1180-4715T>G
c.6487+7T>G (n.6487+7T>G)
c.5137+7T>G (n.5137+7T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.207611860T=CA2483456592CR1c.6472+7T= (n.6472+7T=)
c.5122+7T= (n.5122+7T=)
c.1180-4715T=
c.6487+7T= (n.6487+7T=)
c.5137+7T= (n.5137+7T=)
1g.207611866T>CCA528999503CR1c.6472+13T>C (n.6472+13T>C)
c.5122+13T>C (n.5122+13T>C)
c.1180-4709T>C
c.6487+13T>C (n.6487+13T>C)
c.5137+13T>C (n.5137+13T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.207611866T=CA2483456593CR1c.6472+13T= (n.6472+13T=)
c.5122+13T= (n.5122+13T=)
c.1180-4709T=
c.6487+13T= (n.6487+13T=)
c.5137+13T= (n.5137+13T=)
1g.207611868T>CCA1370451CR1c.6472+15T>C (n.6472+15T>C)
c.5122+15T>C (n.5122+15T>C)
c.1180-4707T>C
c.6487+15T>C (n.6487+15T>C)
c.5137+15T>C (n.5137+15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611868T=CA2483456594CR1c.6472+15T= (n.6472+15T=)
c.5122+15T= (n.5122+15T=)
c.1180-4707T=
c.6487+15T= (n.6487+15T=)
c.5137+15T= (n.5137+15T=)
1g.207611869G>CCA2650269926CR1c.6472+16G>C (n.6472+16G>C)
c.5122+16G>C (n.5122+16G>C)
c.1180-4706G>C
c.6487+16G>C (n.6487+16G>C)
c.5137+16G>C (n.5137+16G>C)
 gnomAD v4
1g.207611870G>ACA2483456596CR1c.6472+17G>A (n.6472+17G>A)
c.5122+17G>A (n.5122+17G>A)
c.1180-4705G>A
c.6487+17G>A (n.6487+17G>A)
c.5137+17G>A (n.5137+17G>A)
 dbSNP
1g.207611870G=CA2483456595CR1c.6472+17G= (n.6472+17G=)
c.5122+17G= (n.5122+17G=)
c.1180-4705G=
c.6487+17G= (n.6487+17G=)
c.5137+17G= (n.5137+17G=)
1g.207611871C>TCA646378017CR1c.6472+18C>T (n.6472+18C>T)
c.5122+18C>T (n.5122+18C>T)
c.1180-4704C>T
c.6487+18C>T (n.6487+18C>T)
c.5137+18C>T (n.5137+18C>T)
 COSMIC

Number of alleles fetched