Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.93830154_93830545delCA212589GPC6,GPC6-AS2c.320_711del
n.380+273_380+664del
c.110_501del
c.-47_345del
13g.93830447C>ACA484761666GPC6,GPC6-AS2c.613C>A (p.Arg205=)
n.380+369G>T
c.403C>A (p.Arg135=)
c.247C>A (p.Arg83=)
13g.93830447C=CA2111541451GPC6,GPC6-AS2c.613C= (p.Arg205=)
n.380+369G=
c.403C= (p.Arg135=)
c.247C= (p.Arg83=)
13g.93830447C>GCA255001058GPC6,GPC6-AS2c.613C>G (p.Arg205Gly)
n.380+369G>C
c.403C>G (p.Arg135Gly)
c.247C>G (p.Arg83Gly)
 dbSNP gnomAD v3 gnomAD v4
13g.93830447C>TCA7016894GPC6,GPC6-AS2c.613C>T (p.Arg205Trp)
n.380+369G>A
c.403C>T (p.Arg135Trp)
c.247C>T (p.Arg83Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830448G>ACA7016895GPC6,GPC6-AS2c.614G>A (p.Arg205Gln)
n.380+368C>T
c.404G>A (p.Arg135Gln)
c.248G>A (p.Arg83Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830448G>CCA388465702GPC6,GPC6-AS2c.614G>C (p.Arg205Pro)
n.380+368C>G
c.404G>C (p.Arg135Pro)
c.248G>C (p.Arg83Pro)
13g.93830448G=CA2111541459GPC6,GPC6-AS2c.614G= (p.Arg205=)
n.380+368C=
c.404G= (p.Arg135=)
c.248G= (p.Arg83=)
13g.93830448G>TCA388465701GPC6,GPC6-AS2c.614G>T (p.Arg205Leu)
n.380+368C>A
c.404G>T (p.Arg135Leu)
c.248G>T (p.Arg83Leu)
13g.93830449G>ACA484761670GPC6,GPC6-AS2c.615G>A (p.Arg205=)
n.380+367C>T
c.405G>A (p.Arg135=)
c.249G>A (p.Arg83=)
 COSMIC
13g.93830449G>CCA484761671GPC6,GPC6-AS2c.615G>C (p.Arg205=)
n.380+367C>G
c.405G>C (p.Arg135=)
c.249G>C (p.Arg83=)
13g.93830449G>TCA484761673GPC6,GPC6-AS2c.615G>T (p.Arg205=)
n.380+367C>A
c.405G>T (p.Arg135=)
c.249G>T (p.Arg83=)
13g.93830450A>CCA388465703GPC6,GPC6-AS2c.616A>C (p.Lys206Gln)
n.380+366T>G
c.406A>C (p.Lys136Gln)
c.250A>C (p.Lys84Gln)
13g.93830450A>GCA388465705GPC6,GPC6-AS2c.616A>G (p.Lys206Glu)
n.380+366T>C
c.406A>G (p.Lys136Glu)
c.250A>G (p.Lys84Glu)
13g.93830450A>TCA388465704GPC6,GPC6-AS2c.616A>T (p.Lys206Ter)
n.380+366T>A
c.406A>T (p.Lys136Ter)
c.250A>T (p.Lys84Ter)
13g.93830451A>CCA388465706GPC6,GPC6-AS2c.617A>C (p.Lys206Thr)
n.380+365T>G
c.407A>C (p.Lys136Thr)
c.251A>C (p.Lys84Thr)
13g.93830451A>GCA388465707GPC6,GPC6-AS2c.617A>G (p.Lys206Arg)
n.380+365T>C
c.407A>G (p.Lys136Arg)
c.251A>G (p.Lys84Arg)
13g.93830451A>TCA388465708GPC6,GPC6-AS2c.617A>T (p.Lys206Ile)
n.380+365T>A
c.407A>T (p.Lys136Ile)
c.251A>T (p.Lys84Ile)
13g.93830452A>CCA388465709GPC6,GPC6-AS2c.618A>C (p.Lys206Asn)
n.380+364T>G
c.408A>C (p.Lys136Asn)
c.252A>C (p.Lys84Asn)
13g.93830452A>GCA484761679GPC6,GPC6-AS2c.618A>G (p.Lys206=)
n.380+364T>C
c.408A>G (p.Lys136=)
c.252A>G (p.Lys84=)
13g.93830452A>TCA388465710GPC6,GPC6-AS2c.618A>T (p.Lys206Asn)
n.380+364T>A
c.408A>T (p.Lys136Asn)
c.252A>T (p.Lys84Asn)
 gnomAD v4
13g.93830453C>ACA388465711GPC6,GPC6-AS2c.619C>A (p.Leu207Met)
n.380+363G>T
c.409C>A (p.Leu137Met)
c.253C>A (p.Leu85Met)
13g.93830453C>GCA388465712GPC6,GPC6-AS2c.619C>G (p.Leu207Val)
n.380+363G>C
c.409C>G (p.Leu137Val)
c.253C>G (p.Leu85Val)
13g.93830453C>TCA484761683GPC6,GPC6-AS2c.619C>T (p.Leu207=)
n.380+363G>A
c.409C>T (p.Leu137=)
c.253C>T (p.Leu85=)
13g.93830454T>ACA388465713GPC6,GPC6-AS2c.620T>A (p.Leu207Gln)
n.380+362A>T
c.410T>A (p.Leu137Gln)
c.254T>A (p.Leu85Gln)
13g.93830454T>CCA388465714GPC6,GPC6-AS2c.620T>C (p.Leu207Pro)
n.380+362A>G
c.410T>C (p.Leu137Pro)
c.254T>C (p.Leu85Pro)
13g.93830454T>GCA388465715GPC6,GPC6-AS2c.620T>G (p.Leu207Arg)
n.380+362A>C
c.410T>G (p.Leu137Arg)
c.254T>G (p.Leu85Arg)
13g.93830455G>ACA484761685GPC6,GPC6-AS2c.621G>A (p.Leu207=)
n.380+361C>T
c.411G>A (p.Leu137=)
c.255G>A (p.Leu85=)
13g.93830455G>CCA484761688GPC6,GPC6-AS2c.621G>C (p.Leu207=)
n.380+361C>G
c.411G>C (p.Leu137=)
c.255G>C (p.Leu85=)
13g.93830455G>TCA484761686GPC6,GPC6-AS2c.621G>T (p.Leu207=)
n.380+361C>A
c.411G>T (p.Leu137=)
c.255G>T (p.Leu85=)
13g.93830456A>CCA388465716GPC6,GPC6-AS2c.622A>C (p.Lys208Gln)
n.380+360T>G
c.412A>C (p.Lys138Gln)
c.256A>C (p.Lys86Gln)
13g.93830456A>GCA388465717GPC6,GPC6-AS2c.622A>G (p.Lys208Glu)
n.380+360T>C
c.412A>G (p.Lys138Glu)
c.256A>G (p.Lys86Glu)
 gnomAD v4
13g.93830456A>TCA388465718GPC6,GPC6-AS2c.622A>T (p.Lys208Ter)
n.380+360T>A
c.412A>T (p.Lys138Ter)
c.256A>T (p.Lys86Ter)
13g.93830457A>CCA388465719GPC6,GPC6-AS2c.623A>C (p.Lys208Thr)
n.380+359T>G
c.413A>C (p.Lys138Thr)
c.257A>C (p.Lys86Thr)
13g.93830457A>GCA388465721GPC6,GPC6-AS2c.623A>G (p.Lys208Arg)
n.380+359T>C
c.413A>G (p.Lys138Arg)
c.257A>G (p.Lys86Arg)
13g.93830457A>TCA388465720GPC6,GPC6-AS2c.623A>T (p.Lys208Met)
n.380+359T>A
c.413A>T (p.Lys138Met)
c.257A>T (p.Lys86Met)
13g.93830458G>ACA484761691GPC6,GPC6-AS2c.624G>A (p.Lys208=)
n.380+358C>T
c.414G>A (p.Lys138=)
c.258G>A (p.Lys86=)
13g.93830458G>CCA388465722GPC6,GPC6-AS2c.624G>C (p.Lys208Asn)
n.380+358C>G
c.414G>C (p.Lys138Asn)
c.258G>C (p.Lys86Asn)
13g.93830458G>TCA388465723GPC6,GPC6-AS2c.624G>T (p.Lys208Asn)
n.380+358C>A
c.414G>T (p.Lys138Asn)
c.258G>T (p.Lys86Asn)
13g.93830459A=CA2111541484GPC6,GPC6-AS2c.625A= (p.Ile209=)
n.380+357T=
c.415A= (p.Ile139=)
c.259A= (p.Ile87=)
13g.93830459A>CCA388465724GPC6,GPC6-AS2c.625A>C (p.Ile209Leu)
n.380+357T>G
c.415A>C (p.Ile139Leu)
c.259A>C (p.Ile87Leu)
13g.93830459A>GCA388465725GPC6,GPC6-AS2c.625A>G (p.Ile209Val)
n.380+357T>C
c.415A>G (p.Ile139Val)
c.259A>G (p.Ile87Val)
 dbSNP
13g.93830459A>TCA388465726GPC6,GPC6-AS2c.625A>T (p.Ile209Phe)
n.380+357T>A
c.415A>T (p.Ile139Phe)
c.259A>T (p.Ile87Phe)
13g.93830460T>ACA388465727GPC6,GPC6-AS2c.626T>A (p.Ile209Asn)
n.380+356A>T
c.416T>A (p.Ile139Asn)
c.260T>A (p.Ile87Asn)
13g.93830460T>CCA388465728GPC6,GPC6-AS2c.626T>C (p.Ile209Thr)
n.380+356A>G
c.416T>C (p.Ile139Thr)
c.260T>C (p.Ile87Thr)
13g.93830460T>GCA388465729GPC6,GPC6-AS2c.626T>G (p.Ile209Ser)
n.380+356A>C
c.416T>G (p.Ile139Ser)
c.260T>G (p.Ile87Ser)
13g.93830461dupCA2575435829GPC6,GPC6-AS2c.627dup (p.Gln210SerfsTer?)
n.380+356dup
c.417dup (p.Gln140SerfsTer?)
c.261dup (p.Gln88SerfsTer?)
13g.93830461T>ACA484761696GPC6,GPC6-AS2c.627T>A (p.Ile209=)
n.380+355A>T
c.417T>A (p.Ile139=)
c.261T>A (p.Ile87=)
13g.93830461T>CCA484761697GPC6,GPC6-AS2c.627T>C (p.Ile209=)
n.380+355A>G
c.417T>C (p.Ile139=)
c.261T>C (p.Ile87=)
13g.93830461T>GCA388465730GPC6,GPC6-AS2c.627T>G (p.Ile209Met)
n.380+355A>C
c.417T>G (p.Ile139Met)
c.261T>G (p.Ile87Met)
13g.93830462C>ACA388465733GPC6,GPC6-AS2c.628C>A (p.Gln210Lys)
n.380+354G>T
c.418C>A (p.Gln140Lys)
c.262C>A (p.Gln88Lys)
13g.93830462C>GCA388465732GPC6,GPC6-AS2c.628C>G (p.Gln210Glu)
n.380+354G>C
c.418C>G (p.Gln140Glu)
c.262C>G (p.Gln88Glu)
13g.93830462C>TCA388465731GPC6,GPC6-AS2c.628C>T (p.Gln210Ter)
n.380+354G>A
c.418C>T (p.Gln140Ter)
c.262C>T (p.Gln88Ter)
13g.93830463A=CA2111541491GPC6,GPC6-AS2c.629A= (p.Gln210=)
n.380+353T=
c.419A= (p.Gln140=)
c.263A= (p.Gln88=)
13g.93830463A>CCA388465734GPC6,GPC6-AS2c.629A>C (p.Gln210Pro)
n.380+353T>G
c.419A>C (p.Gln140Pro)
c.263A>C (p.Gln88Pro)
13g.93830463A>GCA7016896GPC6,GPC6-AS2c.629A>G (p.Gln210Arg)
n.380+353T>C
c.419A>G (p.Gln140Arg)
c.263A>G (p.Gln88Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830463A>TCA388465735GPC6,GPC6-AS2c.629A>T (p.Gln210Leu)
n.380+353T>A
c.419A>T (p.Gln140Leu)
c.263A>T (p.Gln88Leu)
 gnomAD v4
13g.93830464G>ACA484761700GPC6,GPC6-AS2c.630G>A (p.Gln210=)
n.380+352C>T
c.420G>A (p.Gln140=)
c.264G>A (p.Gln88=)
13g.93830464G>CCA388465736GPC6,GPC6-AS2c.630G>C (p.Gln210His)
n.380+352C>G
c.420G>C (p.Gln140His)
c.264G>C (p.Gln88His)
13g.93830464G>TCA388465737GPC6,GPC6-AS2c.630G>T (p.Gln210His)
n.380+352C>A
c.420G>T (p.Gln140His)
c.264G>T (p.Gln88His)
 gnomAD v4
13g.93830465G>ACA388465738GPC6,GPC6-AS2c.631G>A (p.Val211Ile)
n.380+351C>T
c.421G>A (p.Val141Ile)
c.265G>A (p.Val89Ile)
 gnomAD v4
13g.93830465G>CCA388465739GPC6,GPC6-AS2c.631G>C (p.Val211Leu)
n.380+351C>G
c.421G>C (p.Val141Leu)
c.265G>C (p.Val89Leu)
13g.93830465G>TCA388465740GPC6,GPC6-AS2c.631G>T (p.Val211Phe)
n.380+351C>A
c.421G>T (p.Val141Phe)
c.265G>T (p.Val89Phe)
13g.93830466T>ACA388465741GPC6,GPC6-AS2c.632T>A (p.Val211Asp)
n.380+350A>T
c.422T>A (p.Val141Asp)
c.266T>A (p.Val89Asp)
13g.93830466T>CCA388465742GPC6,GPC6-AS2c.632T>C (p.Val211Ala)
n.380+350A>G
c.422T>C (p.Val141Ala)
c.266T>C (p.Val89Ala)
13g.93830466T>GCA388465743GPC6,GPC6-AS2c.632T>G (p.Val211Gly)
n.380+350A>C
c.422T>G (p.Val141Gly)
c.266T>G (p.Val89Gly)
13g.93830467T>ACA484761620GPC6,GPC6-AS2c.633T>A (p.Val211=)
n.380+349A>T
c.423T>A (p.Val141=)
c.267T>A (p.Val89=)
13g.93830467T>CCA484761621GPC6,GPC6-AS2c.633T>C (p.Val211=)
n.380+349A>G
c.423T>C (p.Val141=)
c.267T>C (p.Val89=)
13g.93830467T>GCA484761622GPC6,GPC6-AS2c.633T>G (p.Val211=)
n.380+349A>C
c.423T>G (p.Val141=)
c.267T>G (p.Val89=)
 dbSNP gnomAD v3 gnomAD v4
13g.93830467T=CA2111541500GPC6,GPC6-AS2c.633T= (p.Val211=)
n.380+349A=
c.423T= (p.Val141=)
c.267T= (p.Val89=)
13g.93830468A=CA2111541515GPC6,GPC6-AS2c.634A= (p.Thr212=)
n.380+348T=
c.424A= (p.Thr142=)
c.268A= (p.Thr90=)
13g.93830468A>CCA388465745GPC6,GPC6-AS2c.634A>C (p.Thr212Pro)
n.380+348T>G
c.424A>C (p.Thr142Pro)
c.268A>C (p.Thr90Pro)
13g.93830468A>GCA388465744GPC6,GPC6-AS2c.634A>G (p.Thr212Ala)
n.380+348T>C
c.424A>G (p.Thr142Ala)
c.268A>G (p.Thr90Ala)
13g.93830468A>TCA255001059GPC6,GPC6-AS2c.634A>T (p.Thr212Ser)
n.380+348T>A
c.424A>T (p.Thr142Ser)
c.268A>T (p.Thr90Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830468_93830474delinsACCCGCGCA2111541520GPC6,GPC6-AS2c.634_640delinsACCCGCG (p.Thr212=)
n.380+342_380+348delinsCGCGGGT
c.424_430delinsACCCGCG (p.Thr142=)
c.268_274delinsACCCGCG (p.Thr90=)
13g.93830469C>ACA388465746GPC6,GPC6-AS2c.635C>A (p.Thr212Asn)
n.380+347G>T
c.425C>A (p.Thr142Asn)
c.269C>A (p.Thr90Asn)
 gnomAD v4
13g.93830469C=CA2111541538GPC6,GPC6-AS2c.635C= (p.Thr212=)
n.380+347G=
c.425C= (p.Thr142=)
c.269C= (p.Thr90=)
13g.93830469C>GCA388465747GPC6,GPC6-AS2c.635C>G (p.Thr212Ser)
n.380+347G>C
c.425C>G (p.Thr142Ser)
c.269C>G (p.Thr90Ser)
13g.93830469C>TCA7016897GPC6,GPC6-AS2c.635C>T (p.Thr212Ile)
n.380+347G>A
c.425C>T (p.Thr142Ile)
c.269C>T (p.Thr90Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830471_93830476delCA2111541533GPC6,GPC6-AS2c.637_642del (p.Arg213_Ala214del)
n.380+342_380+347del
c.427_432del (p.Arg143_Ala144del)
c.271_276del (p.Arg91_Ala92del)
 dbSNP
13g.93830470C>ACA484761626GPC6,GPC6-AS2c.636C>A (p.Thr212=)
n.380+346G>T
c.426C>A (p.Thr142=)
c.270C>A (p.Thr90=)
13g.93830470C=CA2111541546GPC6,GPC6-AS2c.636C= (p.Thr212=)
n.380+346G=
c.426C= (p.Thr142=)
c.270C= (p.Thr90=)
13g.93830470C>GCA484761627GPC6,GPC6-AS2c.636C>G (p.Thr212=)
n.380+346G>C
c.426C>G (p.Thr142=)
c.270C>G (p.Thr90=)
13g.93830470C>TCA484761628GPC6,GPC6-AS2c.636C>T (p.Thr212=)
n.380+346G>A
c.426C>T (p.Thr142=)
c.270C>T (p.Thr90=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.93830471C>ACA388465748GPC6,GPC6-AS2c.637C>A (p.Arg213Ser)
n.380+345G>T
c.427C>A (p.Arg143Ser)
c.271C>A (p.Arg91Ser)
 gnomAD v4 COSMIC
13g.93830471C=CA2111541552GPC6,GPC6-AS2c.637C= (p.Arg213=)
n.380+345G=
c.427C= (p.Arg143=)
c.271C= (p.Arg91=)
13g.93830471C>GCA388465749GPC6,GPC6-AS2c.637C>G (p.Arg213Gly)
n.380+345G>C
c.427C>G (p.Arg143Gly)
c.271C>G (p.Arg91Gly)
 gnomAD v4
13g.93830471C>TCA388465750GPC6,GPC6-AS2c.637C>T (p.Arg213Cys)
n.380+345G>A
c.427C>T (p.Arg143Cys)
c.271C>T (p.Arg91Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.93830472G>ACA7016899GPC6,GPC6-AS2c.638G>A (p.Arg213His)
n.380+344C>T
c.428G>A (p.Arg143His)
c.272G>A (p.Arg91His)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830472G>CCA388465751GPC6,GPC6-AS2c.638G>C (p.Arg213Pro)
n.380+344C>G
c.428G>C (p.Arg143Pro)
c.272G>C (p.Arg91Pro)
13g.93830472G=CA2111541559GPC6,GPC6-AS2c.638G= (p.Arg213=)
n.380+344C=
c.428G= (p.Arg143=)
c.272G= (p.Arg91=)
13g.93830472G>TCA7016898GPC6,GPC6-AS2c.638G>T (p.Arg213Leu)
n.380+344C>A
c.428G>T (p.Arg143Leu)
c.272G>T (p.Arg91Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830473C>ACA484761629GPC6,GPC6-AS2c.639C>A (p.Arg213=)
n.380+343G>T
c.429C>A (p.Arg143=)
c.273C>A (p.Arg91=)
13g.93830473C=CA2111541564GPC6,GPC6-AS2c.639C= (p.Arg213=)
n.380+343G=
c.429C= (p.Arg143=)
c.273C= (p.Arg91=)
13g.93830473C>GCA484761630GPC6,GPC6-AS2c.639C>G (p.Arg213=)
n.380+343G>C
c.429C>G (p.Arg143=)
c.273C>G (p.Arg91=)
 dbSNP gnomAD v4
13g.93830473C>TCA7016900GPC6,GPC6-AS2c.639C>T (p.Arg213=)
n.380+343G>A
c.429C>T (p.Arg143=)
c.273C>T (p.Arg91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830474G>ACA7016901GPC6,GPC6-AS2c.640G>A (p.Ala214Thr)
n.380+342C>T
c.430G>A (p.Ala144Thr)
c.274G>A (p.Ala92Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.93830474G>CCA388465752GPC6,GPC6-AS2c.640G>C (p.Ala214Pro)
n.380+342C>G
c.430G>C (p.Ala144Pro)
c.274G>C (p.Ala92Pro)
13g.93830474G=CA2111541576GPC6,GPC6-AS2c.640G= (p.Ala214=)
n.380+342C=
c.430G= (p.Ala144=)
c.274G= (p.Ala92=)
13g.93830474G>TCA388465753GPC6,GPC6-AS2c.640G>T (p.Ala214Ser)
n.380+342C>A
c.430G>T (p.Ala144Ser)
c.274G>T (p.Ala92Ser)
13g.93830475C>ACA388465755GPC6,GPC6-AS2c.641C>A (p.Ala214Asp)
n.380+341G>T
c.431C>A (p.Ala144Asp)
c.275C>A (p.Ala92Asp)
13g.93830475C=CA2111541584GPC6,GPC6-AS2c.641C= (p.Ala214=)
n.380+341G=
c.431C= (p.Ala144=)
c.275C= (p.Ala92=)
13g.93830475C>GCA388465756GPC6,GPC6-AS2c.641C>G (p.Ala214Gly)
n.380+341G>C
c.431C>G (p.Ala144Gly)
c.275C>G (p.Ala92Gly)
13g.93830475C>TCA388465754GPC6,GPC6-AS2c.641C>T (p.Ala214Val)
n.380+341G>A
c.431C>T (p.Ala144Val)
c.275C>T (p.Ala92Val)
 dbSNP
13g.93830476C>ACA484761636GPC6,GPC6-AS2c.642C>A (p.Ala214=)
n.380+340G>T
c.432C>A (p.Ala144=)
c.276C>A (p.Ala92=)
13g.93830476C=CA2111541592GPC6,GPC6-AS2c.642C= (p.Ala214=)
n.380+340G=
c.432C= (p.Ala144=)
c.276C= (p.Ala92=)
13g.93830476C>GCA484761635GPC6,GPC6-AS2c.642C>G (p.Ala214=)
n.380+340G>C
c.432C>G (p.Ala144=)
c.276C>G (p.Ala92=)
13g.93830476C>TCA7016902GPC6,GPC6-AS2c.642C>T (p.Ala214=)
n.380+340G>A
c.432C>T (p.Ala144=)
c.276C>T (p.Ala92=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830477T>ACA388465757GPC6,GPC6-AS2c.643T>A (p.Phe215Ile)
n.380+339A>T
c.433T>A (p.Phe145Ile)
c.277T>A (p.Phe93Ile)
13g.93830477T>CCA388465759GPC6,GPC6-AS2c.643T>C (p.Phe215Leu)
n.380+339A>G
c.433T>C (p.Phe145Leu)
c.277T>C (p.Phe93Leu)
13g.93830477T>GCA388465758GPC6,GPC6-AS2c.643T>G (p.Phe215Val)
n.380+339A>C
c.433T>G (p.Phe145Val)
c.277T>G (p.Phe93Val)
13g.93830478T>ACA388465760GPC6,GPC6-AS2c.644T>A (p.Phe215Tyr)
n.380+338A>T
c.434T>A (p.Phe145Tyr)
c.278T>A (p.Phe93Tyr)
13g.93830478T>CCA388465762GPC6,GPC6-AS2c.644T>C (p.Phe215Ser)
n.380+338A>G
c.434T>C (p.Phe145Ser)
c.278T>C (p.Phe93Ser)
13g.93830478T>GCA388465761GPC6,GPC6-AS2c.644T>G (p.Phe215Cys)
n.380+338A>C
c.434T>G (p.Phe145Cys)
c.278T>G (p.Phe93Cys)
 gnomAD v4
13g.93830479C>ACA388465763GPC6,GPC6-AS2c.645C>A (p.Phe215Leu)
n.380+337G>T
c.435C>A (p.Phe145Leu)
c.279C>A (p.Phe93Leu)
13g.93830479C>GCA388465764GPC6,GPC6-AS2c.645C>G (p.Phe215Leu)
n.380+337G>C
c.435C>G (p.Phe145Leu)
c.279C>G (p.Phe93Leu)
13g.93830479C>TCA484761641GPC6,GPC6-AS2c.645C>T (p.Phe215=)
n.380+337G>A
c.435C>T (p.Phe145=)
c.279C>T (p.Phe93=)
13g.93830480A=CA2111541599GPC6,GPC6-AS2c.646A= (p.Ile216=)
n.380+336T=
c.436A= (p.Ile146=)
c.280A= (p.Ile94=)
13g.93830480A>CCA388465765GPC6,GPC6-AS2c.646A>C (p.Ile216Leu)
n.380+336T>G
c.436A>C (p.Ile146Leu)
c.280A>C (p.Ile94Leu)
13g.93830480A>GCA388465766GPC6,GPC6-AS2c.646A>G (p.Ile216Val)
n.380+336T>C
c.436A>G (p.Ile146Val)
c.280A>G (p.Ile94Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830480A>TCA388465767GPC6,GPC6-AS2c.646A>T (p.Ile216Phe)
n.380+336T>A
c.436A>T (p.Ile146Phe)
c.280A>T (p.Ile94Phe)
13g.93830481T>ACA388465768GPC6,GPC6-AS2c.647T>A (p.Ile216Asn)
n.380+335A>T
c.437T>A (p.Ile146Asn)
c.281T>A (p.Ile94Asn)
13g.93830481T>CCA388465769GPC6,GPC6-AS2c.647T>C (p.Ile216Thr)
n.380+335A>G
c.437T>C (p.Ile146Thr)
c.281T>C (p.Ile94Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.93830481T>GCA388465770GPC6,GPC6-AS2c.647T>G (p.Ile216Ser)
n.380+335A>C
c.437T>G (p.Ile146Ser)
c.281T>G (p.Ile94Ser)
13g.93830481T=CA2111541623GPC6,GPC6-AS2c.647T= (p.Ile216=)
n.380+335A=
c.437T= (p.Ile146=)
c.281T= (p.Ile94=)
13g.93830482T>ACA484761647GPC6,GPC6-AS2c.648T>A (p.Ile216=)
n.380+334A>T
c.438T>A (p.Ile146=)
c.282T>A (p.Ile94=)
13g.93830482T>CCA255001060GPC6,GPC6-AS2c.648T>C (p.Ile216=)
n.380+334A>G
c.438T>C (p.Ile146=)
c.282T>C (p.Ile94=)
 dbSNP gnomAD v3 gnomAD v4
13g.93830482T>GCA388465771GPC6,GPC6-AS2c.648T>G (p.Ile216Met)
n.380+334A>C
c.438T>G (p.Ile146Met)
c.282T>G (p.Ile94Met)
13g.93830482T=CA2111541627GPC6,GPC6-AS2c.648T= (p.Ile216=)
n.380+334A=
c.438T= (p.Ile146=)
c.282T= (p.Ile94=)
13g.93830483G>ACA388465772GPC6,GPC6-AS2c.649G>A (p.Ala217Thr)
n.380+333C>T
c.439G>A (p.Ala147Thr)
c.283G>A (p.Ala95Thr)
13g.93830483G>CCA388465773GPC6,GPC6-AS2c.649G>C (p.Ala217Pro)
n.380+333C>G
c.439G>C (p.Ala147Pro)
c.283G>C (p.Ala95Pro)
13g.93830483G>TCA388465774GPC6,GPC6-AS2c.649G>T (p.Ala217Ser)
n.380+333C>A
c.439G>T (p.Ala147Ser)
c.283G>T (p.Ala95Ser)
13g.93830484C>ACA388465775GPC6,GPC6-AS2c.650C>A (p.Ala217Asp)
n.380+332G>T
c.440C>A (p.Ala147Asp)
c.284C>A (p.Ala95Asp)
13g.93830484C>GCA388465777GPC6,GPC6-AS2c.650C>G (p.Ala217Gly)
n.380+332G>C
c.440C>G (p.Ala147Gly)
c.284C>G (p.Ala95Gly)
13g.93830484C>TCA388465776GPC6,GPC6-AS2c.650C>T (p.Ala217Val)
n.380+332G>A
c.440C>T (p.Ala147Val)
c.284C>T (p.Ala95Val)
 gnomAD v4
13g.93830485T>ACA484761651GPC6,GPC6-AS2c.651T>A (p.Ala217=)
n.380+331A>T
c.441T>A (p.Ala147=)
c.285T>A (p.Ala95=)
 gnomAD v4
13g.93830485T>CCA484761652GPC6,GPC6-AS2c.651T>C (p.Ala217=)
n.380+331A>G
c.441T>C (p.Ala147=)
c.285T>C (p.Ala95=)
13g.93830485T>GCA484761653GPC6,GPC6-AS2c.651T>G (p.Ala217=)
n.380+331A>C
c.441T>G (p.Ala147=)
c.285T>G (p.Ala95=)
13g.93830486G>ACA388465778GPC6,GPC6-AS2c.652G>A (p.Ala218Thr)
n.380+330C>T
c.442G>A (p.Ala148Thr)
c.286G>A (p.Ala96Thr)
13g.93830486G>CCA388465779GPC6,GPC6-AS2c.652G>C (p.Ala218Pro)
n.380+330C>G
c.442G>C (p.Ala148Pro)
c.286G>C (p.Ala96Pro)
13g.93830486G>TCA388465780GPC6,GPC6-AS2c.652G>T (p.Ala218Ser)
n.380+330C>A
c.442G>T (p.Ala148Ser)
c.286G>T (p.Ala96Ser)
13g.93830487C>ACA388465781GPC6,GPC6-AS2c.653C>A (p.Ala218Asp)
n.380+329G>T
c.443C>A (p.Ala148Asp)
c.287C>A (p.Ala96Asp)
13g.93830487C>GCA388465782GPC6,GPC6-AS2c.653C>G (p.Ala218Gly)
n.380+329G>C
c.443C>G (p.Ala148Gly)
c.287C>G (p.Ala96Gly)
13g.93830487C>TCA388465783GPC6,GPC6-AS2c.653C>T (p.Ala218Val)
n.380+329G>A
c.443C>T (p.Ala148Val)
c.287C>T (p.Ala96Val)
13g.93830488C>ACA484761660GPC6,GPC6-AS2c.654C>A (p.Ala218=)
n.380+328G>T
c.444C>A (p.Ala148=)
c.288C>A (p.Ala96=)
13g.93830488C=CA2111541639GPC6,GPC6-AS2c.654C= (p.Ala218=)
n.380+328G=
c.444C= (p.Ala148=)
c.288C= (p.Ala96=)
13g.93830488C>GCA484761661GPC6,GPC6-AS2c.654C>G (p.Ala218=)
n.380+328G>C
c.444C>G (p.Ala148=)
c.288C>G (p.Ala96=)
13g.93830488C>TCA255001061GPC6,GPC6-AS2c.654C>T (p.Ala218=)
n.380+328G>A
c.444C>T (p.Ala148=)
c.288C>T (p.Ala96=)
 dbSNP gnomAD v2 gnomAD v4
13g.93830489A>CCA484761662GPC6,GPC6-AS2c.655A>C (p.Arg219=)
n.380+327T>G
c.445A>C (p.Arg149=)
c.289A>C (p.Arg97=)
13g.93830489A>GCA388465784GPC6,GPC6-AS2c.655A>G (p.Arg219Gly)
n.380+327T>C
c.445A>G (p.Arg149Gly)
c.289A>G (p.Arg97Gly)
 gnomAD v4
13g.93830489A>TCA388465785GPC6,GPC6-AS2c.655A>T (p.Arg219Trp)
n.380+327T>A
c.445A>T (p.Arg149Trp)
c.289A>T (p.Arg97Trp)
13g.93830490G>ACA388465787GPC6,GPC6-AS2c.656G>A (p.Arg219Lys)
n.380+326C>T
c.446G>A (p.Arg149Lys)
c.290G>A (p.Arg97Lys)
13g.93830490G>CCA7016903GPC6,GPC6-AS2c.656G>C (p.Arg219Thr)
n.380+326C>G
c.446G>C (p.Arg149Thr)
c.290G>C (p.Arg97Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830490G=CA2111541649GPC6,GPC6-AS2c.656G= (p.Arg219=)
n.380+326C=
c.446G= (p.Arg149=)
c.290G= (p.Arg97=)
13g.93830490G>TCA388465786GPC6,GPC6-AS2c.656G>T (p.Arg219Met)
n.380+326C>A
c.446G>T (p.Arg149Met)
c.290G>T (p.Arg97Met)
13g.93830491G>ACA484761669GPC6,GPC6-AS2c.657G>A (p.Arg219=)
n.380+325C>T
c.447G>A (p.Arg149=)
c.291G>A (p.Arg97=)
13g.93830491G>CCA388465788GPC6,GPC6-AS2c.657G>C (p.Arg219Ser)
n.380+325C>G
c.447G>C (p.Arg149Ser)
c.291G>C (p.Arg97Ser)
13g.93830491G>TCA388465789GPC6,GPC6-AS2c.657G>T (p.Arg219Ser)
n.380+325C>A
c.447G>T (p.Arg149Ser)
c.291G>T (p.Arg97Ser)
13g.93830492A=CA2111541667GPC6,GPC6-AS2c.658A= (p.Thr220=)
n.380+324T=
c.448A= (p.Thr150=)
c.292A= (p.Thr98=)
13g.93830492A>CCA388465790GPC6,GPC6-AS2c.658A>C (p.Thr220Pro)
n.380+324T>G
c.448A>C (p.Thr150Pro)
c.292A>C (p.Thr98Pro)
13g.93830492A>GCA7016904GPC6,GPC6-AS2c.658A>G (p.Thr220Ala)
n.380+324T>C
c.448A>G (p.Thr150Ala)
c.292A>G (p.Thr98Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830492A>TCA388465791GPC6,GPC6-AS2c.658A>T (p.Thr220Ser)
n.380+324T>A
c.448A>T (p.Thr150Ser)
c.292A>T (p.Thr98Ser)
13g.93830493C>ACA388465792GPC6,GPC6-AS2c.659C>A (p.Thr220Asn)
n.380+323G>T
c.449C>A (p.Thr150Asn)
c.293C>A (p.Thr98Asn)
13g.93830493C>GCA388465793GPC6,GPC6-AS2c.659C>G (p.Thr220Ser)
n.380+323G>C
c.449C>G (p.Thr150Ser)
c.293C>G (p.Thr98Ser)
13g.93830493C>TCA388465794GPC6,GPC6-AS2c.659C>T (p.Thr220Ile)
n.380+323G>A
c.449C>T (p.Thr150Ile)
c.293C>T (p.Thr98Ile)
 gnomAD v4 COSMIC
13g.93830494C>ACA484761676GPC6,GPC6-AS2c.660C>A (p.Thr220=)
n.380+322G>T
c.450C>A (p.Thr150=)
c.294C>A (p.Thr98=)
 gnomAD v4
13g.93830494C>GCA484761677GPC6,GPC6-AS2c.660C>G (p.Thr220=)
n.380+322G>C
c.450C>G (p.Thr150=)
c.294C>G (p.Thr98=)
13g.93830494C>TCA484761678GPC6,GPC6-AS2c.660C>T (p.Thr220=)
n.380+322G>A
c.450C>T (p.Thr150=)
c.294C>T (p.Thr98=)
 gnomAD v4
13g.93830495T>ACA388465795GPC6,GPC6-AS2c.661T>A (p.Phe221Ile)
n.380+321A>T
c.451T>A (p.Phe151Ile)
c.295T>A (p.Phe99Ile)
13g.93830495T>CCA388465796GPC6,GPC6-AS2c.661T>C (p.Phe221Leu)
n.380+321A>G
c.451T>C (p.Phe151Leu)
c.295T>C (p.Phe99Leu)
13g.93830495T>GCA388465797GPC6,GPC6-AS2c.661T>G (p.Phe221Val)
n.380+321A>C
c.451T>G (p.Phe151Val)
c.295T>G (p.Phe99Val)
13g.93830496T>ACA388465798GPC6,GPC6-AS2c.662T>A (p.Phe221Tyr)
n.380+320A>T
c.452T>A (p.Phe151Tyr)
c.296T>A (p.Phe99Tyr)
13g.93830496T>CCA388465799GPC6,GPC6-AS2c.662T>C (p.Phe221Ser)
n.380+320A>G
c.452T>C (p.Phe151Ser)
c.296T>C (p.Phe99Ser)
 dbSNP
13g.93830496T>GCA388465800GPC6,GPC6-AS2c.662T>G (p.Phe221Cys)
n.380+320A>C
c.452T>G (p.Phe151Cys)
c.296T>G (p.Phe99Cys)
13g.93830496T=CA2111541676GPC6,GPC6-AS2c.662T= (p.Phe221=)
n.380+320A=
c.452T= (p.Phe151=)
c.296T= (p.Phe99=)
13g.93830497T>ACA388465801GPC6,GPC6-AS2c.663T>A (p.Phe221Leu)
n.380+319A>T
c.453T>A (p.Phe151Leu)
c.297T>A (p.Phe99Leu)
13g.93830497T>CCA484761684GPC6,GPC6-AS2c.663T>C (p.Phe221=)
n.380+319A>G
c.453T>C (p.Phe151=)
c.297T>C (p.Phe99=)
13g.93830497T>GCA388465802GPC6,GPC6-AS2c.663T>G (p.Phe221Leu)
n.380+319A>C
c.453T>G (p.Phe151Leu)
c.297T>G (p.Phe99Leu)
13g.93830498G>ACA388465803GPC6,GPC6-AS2c.664G>A (p.Val222Ile)
n.380+318C>T
c.454G>A (p.Val152Ile)
c.298G>A (p.Val100Ile)
13g.93830498G>CCA388465804GPC6,GPC6-AS2c.664G>C (p.Val222Leu)
n.380+318C>G
c.454G>C (p.Val152Leu)
c.298G>C (p.Val100Leu)
13g.93830498G>TCA388465805GPC6,GPC6-AS2c.664G>T (p.Val222Phe)
n.380+318C>A
c.454G>T (p.Val152Phe)
c.298G>T (p.Val100Phe)
13g.93830499T>ACA388465806GPC6,GPC6-AS2c.665T>A (p.Val222Asp)
n.380+317A>T
c.455T>A (p.Val152Asp)
c.299T>A (p.Val100Asp)
13g.93830499T>CCA388465807GPC6,GPC6-AS2c.665T>C (p.Val222Ala)
n.380+317A>G
c.455T>C (p.Val152Ala)
c.299T>C (p.Val100Ala)
 dbSNP gnomAD v2 gnomAD v4
13g.93830499T>GCA388465808GPC6,GPC6-AS2c.665T>G (p.Val222Gly)
n.380+317A>C
c.455T>G (p.Val152Gly)
c.299T>G (p.Val100Gly)
13g.93830499T=CA2111541679GPC6,GPC6-AS2c.665T= (p.Val222=)
n.380+317A=
c.455T= (p.Val152=)
c.299T= (p.Val100=)
13g.93830500C>ACA484761694GPC6,GPC6-AS2c.666C>A (p.Val222=)
n.380+316G>T
c.456C>A (p.Val152=)
c.300C>A (p.Val100=)
13g.93830500C>GCA484761690GPC6,GPC6-AS2c.666C>G (p.Val222=)
n.380+316G>C
c.456C>G (p.Val152=)
c.300C>G (p.Val100=)
13g.93830500C>TCA484761692GPC6,GPC6-AS2c.666C>T (p.Val222=)
n.380+316G>A
c.456C>T (p.Val152=)
c.300C>T (p.Val100=)
13g.93830501C>ACA388465809GPC6,GPC6-AS2c.667C>A (p.Gln223Lys)
n.380+315G>T
c.457C>A (p.Gln153Lys)
c.301C>A (p.Gln101Lys)
13g.93830501C>GCA388465810GPC6,GPC6-AS2c.667C>G (p.Gln223Glu)
n.380+315G>C
c.457C>G (p.Gln153Glu)
c.301C>G (p.Gln101Glu)
13g.93830501C>TCA388465811GPC6,GPC6-AS2c.667C>T (p.Gln223Ter)
n.380+315G>A
c.457C>T (p.Gln153Ter)
c.301C>T (p.Gln101Ter)
13g.93830502A>CCA388465812GPC6,GPC6-AS2c.668A>C (p.Gln223Pro)
n.380+314T>G
c.458A>C (p.Gln153Pro)
c.302A>C (p.Gln101Pro)
13g.93830502A>GCA388465813GPC6,GPC6-AS2c.668A>G (p.Gln223Arg)
n.380+314T>C
c.458A>G (p.Gln153Arg)
c.302A>G (p.Gln101Arg)
13g.93830502A>TCA388465814GPC6,GPC6-AS2c.668A>T (p.Gln223Leu)
n.380+314T>A
c.458A>T (p.Gln153Leu)
c.302A>T (p.Gln101Leu)
13g.93830503G>ACA484761695GPC6,GPC6-AS2c.669G>A (p.Gln223=)
n.380+313C>T
c.459G>A (p.Gln153=)
c.303G>A (p.Gln101=)
13g.93830503G>CCA388465815GPC6,GPC6-AS2c.669G>C (p.Gln223His)
n.380+313C>G
c.459G>C (p.Gln153His)
c.303G>C (p.Gln101His)
13g.93830503G=CA2111541686GPC6,GPC6-AS2c.669G= (p.Gln223=)
n.380+313C=
c.459G= (p.Gln153=)
c.303G= (p.Gln101=)
13g.93830503G>TCA388465816GPC6,GPC6-AS2c.669G>T (p.Gln223His)
n.380+313C>A
c.459G>T (p.Gln153His)
c.303G>T (p.Gln101His)
 dbSNP gnomAD v2 gnomAD v4
13g.93830504G>ACA388465817GPC6,GPC6-AS2c.670G>A (p.Gly224Arg)
n.380+312C>T
c.460G>A (p.Gly154Arg)
c.304G>A (p.Gly102Arg)
13g.93830504G>CCA388465819GPC6,GPC6-AS2c.670G>C (p.Gly224Arg)
n.380+312C>G
c.460G>C (p.Gly154Arg)
c.304G>C (p.Gly102Arg)
13g.93830504G>TCA388465818GPC6,GPC6-AS2c.670G>T (p.Gly224Trp)
n.380+312C>A
c.460G>T (p.Gly154Trp)
c.304G>T (p.Gly102Trp)
13g.93830505G>ACA388465820GPC6,GPC6-AS2c.671G>A (p.Gly224Glu)
n.380+311C>T
c.461G>A (p.Gly154Glu)
c.305G>A (p.Gly102Glu)
13g.93830505G>CCA388465821GPC6,GPC6-AS2c.671G>C (p.Gly224Ala)
n.380+311C>G
c.461G>C (p.Gly154Ala)
c.305G>C (p.Gly102Ala)
13g.93830505G>TCA388465822GPC6,GPC6-AS2c.671G>T (p.Gly224Val)
n.380+311C>A
c.461G>T (p.Gly154Val)
c.305G>T (p.Gly102Val)
13g.93830506G>ACA7016905GPC6,GPC6-AS2c.672G>A (p.Gly224=)
n.380+310C>T
c.462G>A (p.Gly154=)
c.306G>A (p.Gly102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830506G>CCA484761699GPC6,GPC6-AS2c.672G>C (p.Gly224=)
n.380+310C>G
c.462G>C (p.Gly154=)
c.306G>C (p.Gly102=)
13g.93830506G=CA2111541692GPC6,GPC6-AS2c.672G= (p.Gly224=)
n.380+310C=
c.462G= (p.Gly154=)
c.306G= (p.Gly102=)
13g.93830506G>TCA484761701GPC6,GPC6-AS2c.672G>T (p.Gly224=)
n.380+310C>A
c.462G>T (p.Gly154=)
c.306G>T (p.Gly102=)
13g.93830507C>ACA388465823GPC6,GPC6-AS2c.673C>A (p.Leu225Met)
n.380+309G>T
c.463C>A (p.Leu155Met)
c.307C>A (p.Leu103Met)
 gnomAD v4
13g.93830507C>GCA388465824GPC6,GPC6-AS2c.673C>G (p.Leu225Val)
n.380+309G>C
c.463C>G (p.Leu155Val)
c.307C>G (p.Leu103Val)
13g.93830507C>TCA484761702GPC6,GPC6-AS2c.673C>T (p.Leu225=)
n.380+309G>A
c.463C>T (p.Leu155=)
c.307C>T (p.Leu103=)
13g.93830508T>ACA388465825GPC6,GPC6-AS2c.674T>A (p.Leu225Gln)
n.380+308A>T
c.464T>A (p.Leu155Gln)
c.308T>A (p.Leu103Gln)
13g.93830508T>CCA388465826GPC6,GPC6-AS2c.674T>C (p.Leu225Pro)
n.380+308A>G
c.464T>C (p.Leu155Pro)
c.308T>C (p.Leu103Pro)
13g.93830508T>GCA388465827GPC6,GPC6-AS2c.674T>G (p.Leu225Arg)
n.380+308A>C
c.464T>G (p.Leu155Arg)
c.308T>G (p.Leu103Arg)
13g.93830509G>ACA255001062GPC6,GPC6-AS2c.675G>A (p.Leu225=)
n.380+307C>T
c.465G>A (p.Leu155=)
c.309G>A (p.Leu103=)
 dbSNP gnomAD v4
13g.93830509G>CCA484761703GPC6,GPC6-AS2c.675G>C (p.Leu225=)
n.380+307C>G
c.465G>C (p.Leu155=)
c.309G>C (p.Leu103=)
13g.93830509G=CA2111541702GPC6,GPC6-AS2c.675G= (p.Leu225=)
n.380+307C=
c.465G= (p.Leu155=)
c.309G= (p.Leu103=)
13g.93830509G>TCA484761704GPC6,GPC6-AS2c.675G>T (p.Leu225=)
n.380+307C>A
c.465G>T (p.Leu155=)
c.309G>T (p.Leu103=)
13g.93830510A>CCA388465828GPC6,GPC6-AS2c.676A>C (p.Thr226Pro)
n.380+306T>G
c.466A>C (p.Thr156Pro)
c.310A>C (p.Thr104Pro)
13g.93830510A>GCA388465829GPC6,GPC6-AS2c.676A>G (p.Thr226Ala)
n.380+306T>C
c.466A>G (p.Thr156Ala)
c.310A>G (p.Thr104Ala)
 COSMIC
13g.93830510A>TCA388465830GPC6,GPC6-AS2c.676A>T (p.Thr226Ser)
n.380+306T>A
c.466A>T (p.Thr156Ser)
c.310A>T (p.Thr104Ser)
13g.93830511C>ACA388465833GPC6,GPC6-AS2c.677C>A (p.Thr226Asn)
n.380+305G>T
c.467C>A (p.Thr156Asn)
c.311C>A (p.Thr104Asn)
13g.93830511C>GCA388465831GPC6,GPC6-AS2c.677C>G (p.Thr226Ser)
n.380+305G>C
c.467C>G (p.Thr156Ser)
c.311C>G (p.Thr104Ser)
13g.93830511C>TCA388465832GPC6,GPC6-AS2c.677C>T (p.Thr226Ile)
n.380+305G>A
c.467C>T (p.Thr156Ile)
c.311C>T (p.Thr104Ile)
13g.93830512T>ACA484761705GPC6,GPC6-AS2c.678T>A (p.Thr226=)
n.380+304A>T
c.468T>A (p.Thr156=)
c.312T>A (p.Thr104=)
13g.93830512T>CCA484761706GPC6,GPC6-AS2c.678T>C (p.Thr226=)
n.380+304A>G
c.468T>C (p.Thr156=)
c.312T>C (p.Thr104=)
13g.93830512T>GCA484761707GPC6,GPC6-AS2c.678T>G (p.Thr226=)
n.380+304A>C
c.468T>G (p.Thr156=)
c.312T>G (p.Thr104=)
13g.93830513G>ACA388465834GPC6,GPC6-AS2c.679G>A (p.Val227Met)
n.380+303C>T
c.469G>A (p.Val157Met)
c.313G>A (p.Val105Met)
13g.93830513G>CCA388465835GPC6,GPC6-AS2c.679G>C (p.Val227Leu)
n.380+303C>G
c.469G>C (p.Val157Leu)
c.313G>C (p.Val105Leu)
13g.93830513G>TCA388465836GPC6,GPC6-AS2c.679G>T (p.Val227Leu)
n.380+303C>A
c.469G>T (p.Val157Leu)
c.313G>T (p.Val105Leu)
13g.93830514T>ACA388465837GPC6,GPC6-AS2c.680T>A (p.Val227Glu)
n.380+302A>T
c.470T>A (p.Val157Glu)
c.314T>A (p.Val105Glu)
 gnomAD v4 COSMIC
13g.93830514T>CCA388465838GPC6,GPC6-AS2c.680T>C (p.Val227Ala)
n.380+302A>G
c.470T>C (p.Val157Ala)
c.314T>C (p.Val105Ala)
 dbSNP
13g.93830514T>GCA388465839GPC6,GPC6-AS2c.680T>G (p.Val227Gly)
n.380+302A>C
c.470T>G (p.Val157Gly)
c.314T>G (p.Val105Gly)
13g.93830514T=CA2111541710GPC6,GPC6-AS2c.680T= (p.Val227=)
n.380+302A=
c.470T= (p.Val157=)
c.314T= (p.Val105=)
13g.93830515G>ACA484761708GPC6,GPC6-AS2c.681G>A (p.Val227=)
n.380+301C>T
c.471G>A (p.Val157=)
c.315G>A (p.Val105=)
 gnomAD v4
13g.93830515G>CCA484761709GPC6,GPC6-AS2c.681G>C (p.Val227=)
n.380+301C>G
c.471G>C (p.Val157=)
c.315G>C (p.Val105=)
13g.93830515G>TCA484761710GPC6,GPC6-AS2c.681G>T (p.Val227=)
n.380+301C>A
c.471G>T (p.Val157=)
c.315G>T (p.Val105=)
 gnomAD v4
13g.93830516G>ACA388465840GPC6,GPC6-AS2c.682G>A (p.Gly228Ser)
n.380+300C>T
c.472G>A (p.Gly158Ser)
c.316G>A (p.Gly106Ser)
13g.93830516G>CCA388465841GPC6,GPC6-AS2c.682G>C (p.Gly228Arg)
n.380+300C>G
c.472G>C (p.Gly158Arg)
c.316G>C (p.Gly106Arg)
13g.93830516G>TCA388465842GPC6,GPC6-AS2c.682G>T (p.Gly228Cys)
n.380+300C>A
c.472G>T (p.Gly158Cys)
c.316G>T (p.Gly106Cys)
13g.93830517G>ACA388465843GPC6,GPC6-AS2c.683G>A (p.Gly228Asp)
n.380+299C>T
c.473G>A (p.Gly158Asp)
c.317G>A (p.Gly106Asp)
13g.93830517G>CCA388465844GPC6,GPC6-AS2c.683G>C (p.Gly228Ala)
n.380+299C>G
c.473G>C (p.Gly158Ala)
c.317G>C (p.Gly106Ala)
13g.93830517G=CA2111541715GPC6,GPC6-AS2c.683G= (p.Gly228=)
n.380+299C=
c.473G= (p.Gly158=)
c.317G= (p.Gly106=)
13g.93830517G>TCA388465845GPC6,GPC6-AS2c.683G>T (p.Gly228Val)
n.380+299C>A
c.473G>T (p.Gly158Val)
c.317G>T (p.Gly106Val)
 dbSNP gnomAD v3 gnomAD v4
13g.93830518C>ACA484761711GPC6,GPC6-AS2c.684C>A (p.Gly228=)
n.380+298G>T
c.474C>A (p.Gly158=)
c.318C>A (p.Gly106=)
13g.93830518C>GCA484761712GPC6,GPC6-AS2c.684C>G (p.Gly228=)
n.380+298G>C
c.474C>G (p.Gly158=)
c.318C>G (p.Gly106=)
13g.93830518C>TCA484761713GPC6,GPC6-AS2c.684C>T (p.Gly228=)
n.380+298G>A
c.474C>T (p.Gly158=)
c.318C>T (p.Gly106=)
13g.93830519A>CCA484761714GPC6,GPC6-AS2c.685A>C (p.Arg229=)
n.380+297T>G
c.475A>C (p.Arg159=)
c.319A>C (p.Arg107=)
13g.93830519A>GCA388465846GPC6,GPC6-AS2c.685A>G (p.Arg229Gly)
n.380+297T>C
c.475A>G (p.Arg159Gly)
c.319A>G (p.Arg107Gly)
13g.93830519A>TCA388465847GPC6,GPC6-AS2c.685A>T (p.Arg229Ter)
n.380+297T>A
c.475A>T (p.Arg159Ter)
c.319A>T (p.Arg107Ter)
13g.93830520G>ACA7016907GPC6,GPC6-AS2c.686G>A (p.Arg229Lys)
n.380+296C>T
c.476G>A (p.Arg159Lys)
c.320G>A (p.Arg107Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830520G>CCA7016906GPC6,GPC6-AS2c.686G>C (p.Arg229Thr)
n.380+296C>G
c.476G>C (p.Arg159Thr)
c.320G>C (p.Arg107Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830520G=CA2111541720GPC6,GPC6-AS2c.686G= (p.Arg229=)
n.380+296C=
c.476G= (p.Arg159=)
c.320G= (p.Arg107=)
13g.93830520G>TCA388465848GPC6,GPC6-AS2c.686G>T (p.Arg229Ile)
n.380+296C>A
c.476G>T (p.Arg159Ile)
c.320G>T (p.Arg107Ile)
 gnomAD v4
13g.93830521A>CCA388465849GPC6,GPC6-AS2c.687A>C (p.Arg229Ser)
n.380+295T>G
c.477A>C (p.Arg159Ser)
c.321A>C (p.Arg107Ser)
13g.93830521A>GCA484761715GPC6,GPC6-AS2c.687A>G (p.Arg229=)
n.380+295T>C
c.477A>G (p.Arg159=)
c.321A>G (p.Arg107=)
13g.93830521A>TCA388465850GPC6,GPC6-AS2c.687A>T (p.Arg229Ser)
n.380+295T>A
c.477A>T (p.Arg159Ser)
c.321A>T (p.Arg107Ser)
13g.93830522G>ACA388465851GPC6,GPC6-AS2c.688G>A (p.Glu230Lys)
n.380+294C>T
c.478G>A (p.Glu160Lys)
c.322G>A (p.Glu108Lys)
13g.93830522G>CCA388465852GPC6,GPC6-AS2c.688G>C (p.Glu230Gln)
n.380+294C>G
c.478G>C (p.Glu160Gln)
c.322G>C (p.Glu108Gln)
13g.93830522G>TCA388465853GPC6,GPC6-AS2c.688G>T (p.Glu230Ter)
n.380+294C>A
c.478G>T (p.Glu160Ter)
c.322G>T (p.Glu108Ter)
13g.93830523A>CCA388465854GPC6,GPC6-AS2c.689A>C (p.Glu230Ala)
n.380+293T>G
c.479A>C (p.Glu160Ala)
c.323A>C (p.Glu108Ala)
13g.93830523A>GCA388465855GPC6,GPC6-AS2c.689A>G (p.Glu230Gly)
n.380+293T>C
c.479A>G (p.Glu160Gly)
c.323A>G (p.Glu108Gly)
13g.93830523A>TCA388465856GPC6,GPC6-AS2c.689A>T (p.Glu230Val)
n.380+293T>A
c.479A>T (p.Glu160Val)
c.323A>T (p.Glu108Val)
13g.93830524A=CA2111541767GPC6,GPC6-AS2c.690A= (p.Glu230=)
n.380+292T=
c.480A= (p.Glu160=)
c.324A= (p.Glu108=)
13g.93830524A>CCA388465857GPC6,GPC6-AS2c.690A>C (p.Glu230Asp)
n.380+292T>G
c.480A>C (p.Glu160Asp)
c.324A>C (p.Glu108Asp)
13g.93830524A>GCA255001063GPC6,GPC6-AS2c.690A>G (p.Glu230=)
n.380+292T>C
c.480A>G (p.Glu160=)
c.324A>G (p.Glu108=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830524A>TCA388465858GPC6,GPC6-AS2c.690A>T (p.Glu230Asp)
n.380+292T>A
c.480A>T (p.Glu160Asp)
c.324A>T (p.Glu108Asp)
13g.93830525G>ACA388465861GPC6,GPC6-AS2c.691G>A (p.Val231Ile)
n.380+291C>T
c.481G>A (p.Val161Ile)
c.325G>A (p.Val109Ile)
 gnomAD v4
13g.93830525G>CCA388465859GPC6,GPC6-AS2c.691G>C (p.Val231Leu)
n.380+291C>G
c.481G>C (p.Val161Leu)
c.325G>C (p.Val109Leu)
13g.93830525G>TCA388465860GPC6,GPC6-AS2c.691G>T (p.Val231Phe)
n.380+291C>A
c.481G>T (p.Val161Phe)
c.325G>T (p.Val109Phe)
13g.93830526_93830528dupCA2623380638GPC6,GPC6-AS2c.692_694dup (p.Val231_Ala232insVal)
n.380+289_380+291dup
c.482_484dup (p.Val161_Ala162insVal)
c.326_328dup (p.Val109_Ala110insVal)
 gnomAD v4
13g.93830526T>ACA388465862GPC6,GPC6-AS2c.692T>A (p.Val231Asp)
n.380+290A>T
c.482T>A (p.Val161Asp)
c.326T>A (p.Val109Asp)
13g.93830526T>CCA388465863GPC6,GPC6-AS2c.692T>C (p.Val231Ala)
n.380+290A>G
c.482T>C (p.Val161Ala)
c.326T>C (p.Val109Ala)
13g.93830526T>GCA388465864GPC6,GPC6-AS2c.692T>G (p.Val231Gly)
n.380+290A>C
c.482T>G (p.Val161Gly)
c.326T>G (p.Val109Gly)
 gnomAD v4
13g.93830527T>ACA484761716GPC6,GPC6-AS2c.693T>A (p.Val231=)
n.380+289A>T
c.483T>A (p.Val161=)
c.327T>A (p.Val109=)
13g.93830527T>CCA484761717GPC6,GPC6-AS2c.693T>C (p.Val231=)
n.380+289A>G
c.483T>C (p.Val161=)
c.327T>C (p.Val109=)
13g.93830527T>GCA484761718GPC6,GPC6-AS2c.693T>G (p.Val231=)
n.380+289A>C
c.483T>G (p.Val161=)
c.327T>G (p.Val109=)
13g.93830528G>ACA388465865GPC6,GPC6-AS2c.694G>A (p.Ala232Thr)
n.380+288C>T
c.484G>A (p.Ala162Thr)
c.328G>A (p.Ala110Thr)
 ClinVar dbSNP gnomAD v4
13g.93830528G>CCA388465866GPC6,GPC6-AS2c.694G>C (p.Ala232Pro)
n.380+288C>G
c.484G>C (p.Ala162Pro)
c.328G>C (p.Ala110Pro)
13g.93830528G=CA2111541778GPC6,GPC6-AS2c.694G= (p.Ala232=)
n.380+288C=
c.484G= (p.Ala162=)
c.328G= (p.Ala110=)
13g.93830528G>TCA388465867GPC6,GPC6-AS2c.694G>T (p.Ala232Ser)
n.380+288C>A
c.484G>T (p.Ala162Ser)
c.328G>T (p.Ala110Ser)
13g.93830529C>ACA388465868GPC6,GPC6-AS2c.695C>A (p.Ala232Glu)
n.380+287G>T
c.485C>A (p.Ala162Glu)
c.329C>A (p.Ala110Glu)
13g.93830529C=CA2111541783GPC6,GPC6-AS2c.695C= (p.Ala232=)
n.380+287G=
c.485C= (p.Ala162=)
c.329C= (p.Ala110=)
13g.93830529C>GCA388465869GPC6,GPC6-AS2c.695C>G (p.Ala232Gly)
n.380+287G>C
c.485C>G (p.Ala162Gly)
c.329C>G (p.Ala110Gly)
 dbSNP
13g.93830529C>TCA388465870GPC6,GPC6-AS2c.695C>T (p.Ala232Val)
n.380+287G>A
c.485C>T (p.Ala162Val)
c.329C>T (p.Ala110Val)
 dbSNP gnomAD v2 gnomAD v4
13g.93830530A>CCA484761719GPC6,GPC6-AS2c.696A>C (p.Ala232=)
n.380+286T>G
c.486A>C (p.Ala162=)
c.330A>C (p.Ala110=)
13g.93830530A>GCA484761721GPC6,GPC6-AS2c.696A>G (p.Ala232=)
n.380+286T>C
c.486A>G (p.Ala162=)
c.330A>G (p.Ala110=)
13g.93830530A>TCA484761720GPC6,GPC6-AS2c.696A>T (p.Ala232=)
n.380+286T>A
c.486A>T (p.Ala162=)
c.330A>T (p.Ala110=)
13g.93830531A>CCA388465871GPC6,GPC6-AS2c.697A>C (p.Asn233His)
n.380+285T>G
c.487A>C (p.Asn163His)
c.331A>C (p.Asn111His)
13g.93830531A>GCA388465872GPC6,GPC6-AS2c.697A>G (p.Asn233Asp)
n.380+285T>C
c.487A>G (p.Asn163Asp)
c.331A>G (p.Asn111Asp)
13g.93830531A>TCA388465873GPC6,GPC6-AS2c.697A>T (p.Asn233Tyr)
n.380+285T>A
c.487A>T (p.Asn163Tyr)
c.331A>T (p.Asn111Tyr)
 gnomAD v4
13g.93830532A>CCA388465876GPC6,GPC6-AS2c.698A>C (p.Asn233Thr)
n.380+284T>G
c.488A>C (p.Asn163Thr)
c.332A>C (p.Asn111Thr)
 gnomAD v4
13g.93830532A>GCA388465875GPC6,GPC6-AS2c.698A>G (p.Asn233Ser)
n.380+284T>C
c.488A>G (p.Asn163Ser)
c.332A>G (p.Asn111Ser)
13g.93830532A>TCA388465874GPC6,GPC6-AS2c.698A>T (p.Asn233Ile)
n.380+284T>A
c.488A>T (p.Asn163Ile)
c.332A>T (p.Asn111Ile)
13g.93830533C>ACA388465877GPC6,GPC6-AS2c.699C>A (p.Asn233Lys)
n.380+283G>T
c.489C>A (p.Asn163Lys)
c.333C>A (p.Asn111Lys)
 gnomAD v4
13g.93830533C>GCA388465878GPC6,GPC6-AS2c.699C>G (p.Asn233Lys)
n.380+283G>C
c.489C>G (p.Asn163Lys)
c.333C>G (p.Asn111Lys)
13g.93830533C>TCA484761722GPC6,GPC6-AS2c.699C>T (p.Asn233=)
n.380+283G>A
c.489C>T (p.Asn163=)
c.333C>T (p.Asn111=)
13g.93830534C>ACA484761723GPC6,GPC6-AS2c.700C>A (p.Arg234=)
n.380+282G>T
c.490C>A (p.Arg164=)
c.334C>A (p.Arg112=)
13g.93830534C=CA2111541795GPC6,GPC6-AS2c.700C= (p.Arg234=)
n.380+282G=
c.490C= (p.Arg164=)
c.334C= (p.Arg112=)
13g.93830534C>GCA388465879GPC6,GPC6-AS2c.700C>G (p.Arg234Gly)
n.380+282G>C
c.490C>G (p.Arg164Gly)
c.334C>G (p.Arg112Gly)
13g.93830534C>TCA117584GPC6,GPC6-AS2c.700C>T (p.Arg234Ter)
n.380+282G>A
c.490C>T (p.Arg164Ter)
c.334C>T (p.Arg112Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830535G>ACA388465880GPC6,GPC6-AS2c.701G>A (p.Arg234Gln)
n.380+281C>T
c.491G>A (p.Arg164Gln)
c.335G>A (p.Arg112Gln)
 gnomAD v4
13g.93830535G>CCA388465881GPC6,GPC6-AS2c.701G>C (p.Arg234Pro)
n.380+281C>G
c.491G>C (p.Arg164Pro)
c.335G>C (p.Arg112Pro)
13g.93830535G>TCA388465882GPC6,GPC6-AS2c.701G>T (p.Arg234Leu)
n.380+281C>A
c.491G>T (p.Arg164Leu)
c.335G>T (p.Arg112Leu)
13g.93830535_93830536insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTCCA2800185246GPC6,GPC6-AS2c.701_702insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTC (p.Arg235TrpfsTer7)
n.380+280_380+281insGAAGTGATACTGAGGGTTTATCAGCTGAAACATCCGTTCCAG
c.491_492insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTC (p.Arg165TrpfsTer7)
c.335_336insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTC (p.Arg113TrpfsTer7)
13g.93830536A=CA2111541798GPC6,GPC6-AS2c.702A= (p.Arg234=)
n.380+280T=
c.492A= (p.Arg164=)
c.336A= (p.Arg112=)
13g.93830536A>CCA484761724GPC6,GPC6-AS2c.702A>C (p.Arg234=)
n.380+280T>G
c.492A>C (p.Arg164=)
c.336A>C (p.Arg112=)
13g.93830536A>GCA255001064GPC6,GPC6-AS2c.702A>G (p.Arg234=)
n.380+280T>C
c.492A>G (p.Arg164=)
c.336A>G (p.Arg112=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830536A>TCA484761725GPC6,GPC6-AS2c.702A>T (p.Arg234=)
n.380+280T>A
c.492A>T (p.Arg164=)
c.336A>T (p.Arg112=)
13g.93830537G>ACA388465883GPC6,GPC6-AS2c.703G>A (p.Val235Ile)
n.380+279C>T
c.493G>A (p.Val165Ile)
c.337G>A (p.Val113Ile)
13g.93830537G>CCA388465885GPC6,GPC6-AS2c.703G>C (p.Val235Leu)
n.380+279C>G
c.493G>C (p.Val165Leu)
c.337G>C (p.Val113Leu)
13g.93830537G>TCA388465884GPC6,GPC6-AS2c.703G>T (p.Val235Phe)
n.380+279C>A
c.493G>T (p.Val165Phe)
c.337G>T (p.Val113Phe)
13g.93830538T>ACA388465886GPC6,GPC6-AS2c.704T>A (p.Val235Asp)
n.380+278A>T
c.494T>A (p.Val165Asp)
c.338T>A (p.Val113Asp)
13g.93830538T>CCA388465887GPC6,GPC6-AS2c.704T>C (p.Val235Ala)
n.380+278A>G
c.494T>C (p.Val165Ala)
c.338T>C (p.Val113Ala)
13g.93830538T>GCA388465888GPC6,GPC6-AS2c.704T>G (p.Val235Gly)
n.380+278A>C
c.494T>G (p.Val165Gly)
c.338T>G (p.Val113Gly)
13g.93830539T>ACA484761726GPC6,GPC6-AS2c.705T>A (p.Val235=)
n.380+277A>T
c.495T>A (p.Val165=)
c.339T>A (p.Val113=)
13g.93830539T>CCA484761727GPC6,GPC6-AS2c.705T>C (p.Val235=)
n.380+277A>G
c.495T>C (p.Val165=)
c.339T>C (p.Val113=)
 gnomAD v4
13g.93830539T>GCA255001065GPC6,GPC6-AS2c.705T>G (p.Val235=)
n.380+277A>C
c.495T>G (p.Val165=)
c.339T>G (p.Val113=)
 dbSNP gnomAD v3 gnomAD v4
13g.93830539T=CA2111541809GPC6,GPC6-AS2c.705T= (p.Val235=)
n.380+277A=
c.495T= (p.Val165=)
c.339T= (p.Val113=)
13g.93830540T>ACA388465891GPC6,GPC6-AS2c.706T>A (p.Ser236Thr)
n.380+276A>T
c.496T>A (p.Ser166Thr)
c.340T>A (p.Ser114Thr)
13g.93830540T>CCA388465889GPC6,GPC6-AS2c.706T>C (p.Ser236Pro)
n.380+276A>G
c.496T>C (p.Ser166Pro)
c.340T>C (p.Ser114Pro)
13g.93830540T>GCA388465890GPC6,GPC6-AS2c.706T>G (p.Ser236Ala)
n.380+276A>C
c.496T>G (p.Ser166Ala)
c.340T>G (p.Ser114Ala)
 gnomAD v4
13g.93830541C>ACA388465892GPC6,GPC6-AS2c.707C>A (p.Ser236Tyr)
n.380+275G>T
c.497C>A (p.Ser166Tyr)
c.341C>A (p.Ser114Tyr)
13g.93830541C=CA2111541818GPC6,GPC6-AS2c.707C= (p.Ser236=)
n.380+275G=
c.497C= (p.Ser166=)
c.341C= (p.Ser114=)
13g.93830541C>GCA388465893GPC6,GPC6-AS2c.707C>G (p.Ser236Cys)
n.380+275G>C
c.497C>G (p.Ser166Cys)
c.341C>G (p.Ser114Cys)
 dbSNP
13g.93830541C>TCA388465894GPC6,GPC6-AS2c.707C>T (p.Ser236Phe)
n.380+275G>A
c.497C>T (p.Ser166Phe)
c.341C>T (p.Ser114Phe)
13g.93830542C>ACA484761730GPC6,GPC6-AS2c.708C>A (p.Ser236=)
n.380+274G>T
c.498C>A (p.Ser166=)
c.342C>A (p.Ser114=)
13g.93830542C>GCA484761732GPC6,GPC6-AS2c.708C>G (p.Ser236=)
n.380+274G>C
c.498C>G (p.Ser166=)
c.342C>G (p.Ser114=)
13g.93830542C>TCA484761731GPC6,GPC6-AS2c.708C>T (p.Ser236=)
n.380+274G>A
c.498C>T (p.Ser166=)
c.342C>T (p.Ser114=)
13g.93830543A=CA2111541824GPC6,GPC6-AS2c.709A= (p.Lys237=)
n.380+273T=
c.499A= (p.Lys167=)
c.343A= (p.Lys115=)
13g.93830543A>CCA388465895GPC6,GPC6-AS2c.709A>C (p.Lys237Gln)
n.380+273T>G
c.499A>C (p.Lys167Gln)
c.343A>C (p.Lys115Gln)
 dbSNP
13g.93830543A>GCA388465896GPC6,GPC6-AS2c.709A>G (p.Lys237Glu)
n.380+273T>C
c.499A>G (p.Lys167Glu)
c.343A>G (p.Lys115Glu)
13g.93830543A>TCA388465897GPC6,GPC6-AS2c.709A>T (p.Lys237Ter)
n.380+273T>A
c.499A>T (p.Lys167Ter)
c.343A>T (p.Lys115Ter)
13g.93830544A=CA2111541828GPC6,GPC6-AS2c.710A= (p.Lys237=)
n.380+272T=
c.500A= (p.Lys167=)
c.344A= (p.Lys115=)
13g.93830544A>CCA388465898GPC6,GPC6-AS2c.710A>C (p.Lys237Thr)
n.380+272T>G
c.500A>C (p.Lys167Thr)
c.344A>C (p.Lys115Thr)
13g.93830544A>GCA7016908GPC6,GPC6-AS2c.710A>G (p.Lys237Arg)
n.380+272T>C
c.500A>G (p.Lys167Arg)
c.344A>G (p.Lys115Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830544A>TCA388465899GPC6,GPC6-AS2c.710A>T (p.Lys237Met)
n.380+272T>A
c.500A>T (p.Lys167Met)
c.344A>T (p.Lys115Met)
13g.93830545G>ACA7016909GPC6,GPC6-AS2c.711G>A (p.Lys237=)
n.380+271C>T
c.501G>A (p.Lys167=)
c.345G>A (p.Lys115=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830545G>CCA388465900GPC6,GPC6-AS2c.711G>C (p.Lys237Asn)
n.380+271C>G
c.501G>C (p.Lys167Asn)
c.345G>C (p.Lys115Asn)
13g.93830545G=CA2111541836GPC6,GPC6-AS2c.711G= (p.Lys237=)
n.380+271C=
c.501G= (p.Lys167=)
c.345G= (p.Lys115=)
13g.93830545G>TCA388465901GPC6,GPC6-AS2c.711G>T (p.Lys237Asn)
n.380+271C>A
c.501G>T (p.Lys167Asn)
c.345G>T (p.Lys115Asn)
 COSMIC
13g.93830546G>ACA388465904GPC6,GPC6-AS2c.711+1G>A (n.711+1G>A)
n.380+270C>T
c.501+1G>A (n.501+1G>A)
c.345+1G>A (n.345+1G>A)
13g.93830546G>CCA388465902GPC6,GPC6-AS2c.711+1G>C (n.711+1G>C)
n.380+270C>G
c.501+1G>C (n.501+1G>C)
c.345+1G>C (n.345+1G>C)
13g.93830546G>TCA388465903GPC6,GPC6-AS2c.711+1G>T (n.711+1G>T)
n.380+270C>A
c.501+1G>T (n.501+1G>T)
c.345+1G>T (n.345+1G>T)
13g.93830547T>ACA388465905GPC6,GPC6-AS2c.711+2T>A (n.711+2T>A)
n.380+269A>T
c.501+2T>A (n.501+2T>A)
c.345+2T>A (n.345+2T>A)
13g.93830547T>CCA388465906GPC6,GPC6-AS2c.711+2T>C (n.711+2T>C)
n.380+269A>G
c.501+2T>C (n.501+2T>C)
c.345+2T>C (n.345+2T>C)
13g.93830547T>GCA388465907GPC6,GPC6-AS2c.711+2T>G (n.711+2T>G)
n.380+269A>C
c.501+2T>G (n.501+2T>G)
c.345+2T>G (n.345+2T>G)

Number of alleles fetched