Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.93830154_93830545del | CA212589 | GPC6,GPC6-AS2 | c.320_711del n.380+273_380+664del c.110_501del c.-47_345del | |
13 | g.93830445C>A | CA388465698 | GPC6,GPC6-AS2 | c.611C>A (p.Pro204His) n.380+371G>T c.401C>A (p.Pro134His) c.245C>A (p.Pro82His) | COSMIC |
13 | g.93830445C>G | CA388465699 | GPC6,GPC6-AS2 | c.611C>G (p.Pro204Arg) n.380+371G>C c.401C>G (p.Pro134Arg) c.245C>G (p.Pro82Arg) | |
13 | g.93830445C>T | CA388465700 | GPC6,GPC6-AS2 | c.611C>T (p.Pro204Leu) n.380+371G>A c.401C>T (p.Pro134Leu) c.245C>T (p.Pro82Leu) | |
13 | g.93830446C>A | CA484761663 | GPC6,GPC6-AS2 | c.612C>A (p.Pro204=) n.380+370G>T c.402C>A (p.Pro134=) c.246C>A (p.Pro82=) | COSMIC |
13 | g.93830446C= | CA2111541439 | GPC6,GPC6-AS2 | c.612C= (p.Pro204=) n.380+370G= c.402C= (p.Pro134=) c.246C= (p.Pro82=) | |
13 | g.93830446C>G | CA484761664 | GPC6,GPC6-AS2 | c.612C>G (p.Pro204=) n.380+370G>C c.402C>G (p.Pro134=) c.246C>G (p.Pro82=) | gnomAD v3 gnomAD v4 |
13 | g.93830446C>T | CA484761665 | GPC6,GPC6-AS2 | c.612C>T (p.Pro204=) n.380+370G>A c.402C>T (p.Pro134=) c.246C>T (p.Pro82=) | dbSNP gnomAD v4 |
13 | g.93830447C>A | CA484761666 | GPC6,GPC6-AS2 | c.613C>A (p.Arg205=) n.380+369G>T c.403C>A (p.Arg135=) c.247C>A (p.Arg83=) | |
13 | g.93830447C= | CA2111541451 | GPC6,GPC6-AS2 | c.613C= (p.Arg205=) n.380+369G= c.403C= (p.Arg135=) c.247C= (p.Arg83=) | |
13 | g.93830447C>G | CA255001058 | GPC6,GPC6-AS2 | c.613C>G (p.Arg205Gly) n.380+369G>C c.403C>G (p.Arg135Gly) c.247C>G (p.Arg83Gly) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.93830447C>T | CA7016894 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830448G>A | CA7016895 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830448G>C | CA388465702 | GPC6,GPC6-AS2 | c.614G>C (p.Arg205Pro) n.380+368C>G c.404G>C (p.Arg135Pro) c.248G>C (p.Arg83Pro) | |
13 | g.93830448G= | CA2111541459 | GPC6,GPC6-AS2 | c.614G= (p.Arg205=) n.380+368C= c.404G= (p.Arg135=) c.248G= (p.Arg83=) | |
13 | g.93830448G>T | CA388465701 | GPC6,GPC6-AS2 | c.614G>T (p.Arg205Leu) n.380+368C>A c.404G>T (p.Arg135Leu) c.248G>T (p.Arg83Leu) | |
13 | g.93830449G>A | CA484761670 | GPC6,GPC6-AS2 | c.615G>A (p.Arg205=) n.380+367C>T c.405G>A (p.Arg135=) c.249G>A (p.Arg83=) | COSMIC |
13 | g.93830449G>C | CA484761671 | GPC6,GPC6-AS2 | c.615G>C (p.Arg205=) n.380+367C>G c.405G>C (p.Arg135=) c.249G>C (p.Arg83=) | |
13 | g.93830449G>T | CA484761673 | GPC6,GPC6-AS2 | c.615G>T (p.Arg205=) n.380+367C>A c.405G>T (p.Arg135=) c.249G>T (p.Arg83=) | |
13 | g.93830450A>C | CA388465703 | GPC6,GPC6-AS2 | c.616A>C (p.Lys206Gln) n.380+366T>G c.406A>C (p.Lys136Gln) c.250A>C (p.Lys84Gln) | |
13 | g.93830450A>G | CA388465705 | GPC6,GPC6-AS2 | c.616A>G (p.Lys206Glu) n.380+366T>C c.406A>G (p.Lys136Glu) c.250A>G (p.Lys84Glu) | |
13 | g.93830450A>T | CA388465704 | GPC6,GPC6-AS2 | c.616A>T (p.Lys206Ter) n.380+366T>A c.406A>T (p.Lys136Ter) c.250A>T (p.Lys84Ter) | |
13 | g.93830451A>C | CA388465706 | GPC6,GPC6-AS2 | c.617A>C (p.Lys206Thr) n.380+365T>G c.407A>C (p.Lys136Thr) c.251A>C (p.Lys84Thr) | |
13 | g.93830451A>G | CA388465707 | GPC6,GPC6-AS2 | c.617A>G (p.Lys206Arg) n.380+365T>C c.407A>G (p.Lys136Arg) c.251A>G (p.Lys84Arg) | |
13 | g.93830451A>T | CA388465708 | GPC6,GPC6-AS2 | c.617A>T (p.Lys206Ile) n.380+365T>A c.407A>T (p.Lys136Ile) c.251A>T (p.Lys84Ile) | |
13 | g.93830452A>C | CA388465709 | GPC6,GPC6-AS2 | c.618A>C (p.Lys206Asn) n.380+364T>G c.408A>C (p.Lys136Asn) c.252A>C (p.Lys84Asn) | |
13 | g.93830452A>G | CA484761679 | GPC6,GPC6-AS2 | c.618A>G (p.Lys206=) n.380+364T>C c.408A>G (p.Lys136=) c.252A>G (p.Lys84=) | |
13 | g.93830452A>T | CA388465710 | GPC6,GPC6-AS2 | c.618A>T (p.Lys206Asn) n.380+364T>A c.408A>T (p.Lys136Asn) c.252A>T (p.Lys84Asn) | gnomAD v4 |
13 | g.93830453C>A | CA388465711 | GPC6,GPC6-AS2 | c.619C>A (p.Leu207Met) n.380+363G>T c.409C>A (p.Leu137Met) c.253C>A (p.Leu85Met) | |
13 | g.93830453C>G | CA388465712 | GPC6,GPC6-AS2 | c.619C>G (p.Leu207Val) n.380+363G>C c.409C>G (p.Leu137Val) c.253C>G (p.Leu85Val) | |
13 | g.93830453C>T | CA484761683 | GPC6,GPC6-AS2 | c.619C>T (p.Leu207=) n.380+363G>A c.409C>T (p.Leu137=) c.253C>T (p.Leu85=) | |
13 | g.93830454T>A | CA388465713 | GPC6,GPC6-AS2 | c.620T>A (p.Leu207Gln) n.380+362A>T c.410T>A (p.Leu137Gln) c.254T>A (p.Leu85Gln) | |
13 | g.93830454T>C | CA388465714 | GPC6,GPC6-AS2 | c.620T>C (p.Leu207Pro) n.380+362A>G c.410T>C (p.Leu137Pro) c.254T>C (p.Leu85Pro) | |
13 | g.93830454T>G | CA388465715 | GPC6,GPC6-AS2 | c.620T>G (p.Leu207Arg) n.380+362A>C c.410T>G (p.Leu137Arg) c.254T>G (p.Leu85Arg) | |
13 | g.93830455G>A | CA484761685 | GPC6,GPC6-AS2 | c.621G>A (p.Leu207=) n.380+361C>T c.411G>A (p.Leu137=) c.255G>A (p.Leu85=) | |
13 | g.93830455G>C | CA484761688 | GPC6,GPC6-AS2 | c.621G>C (p.Leu207=) n.380+361C>G c.411G>C (p.Leu137=) c.255G>C (p.Leu85=) | |
13 | g.93830455G>T | CA484761686 | GPC6,GPC6-AS2 | c.621G>T (p.Leu207=) n.380+361C>A c.411G>T (p.Leu137=) c.255G>T (p.Leu85=) | |
13 | g.93830456A>C | CA388465716 | GPC6,GPC6-AS2 | c.622A>C (p.Lys208Gln) n.380+360T>G c.412A>C (p.Lys138Gln) c.256A>C (p.Lys86Gln) | |
13 | g.93830456A>G | CA388465717 | GPC6,GPC6-AS2 | c.622A>G (p.Lys208Glu) n.380+360T>C c.412A>G (p.Lys138Glu) c.256A>G (p.Lys86Glu) | gnomAD v4 |
13 | g.93830456A>T | CA388465718 | GPC6,GPC6-AS2 | c.622A>T (p.Lys208Ter) n.380+360T>A c.412A>T (p.Lys138Ter) c.256A>T (p.Lys86Ter) | |
13 | g.93830457A>C | CA388465719 | GPC6,GPC6-AS2 | c.623A>C (p.Lys208Thr) n.380+359T>G c.413A>C (p.Lys138Thr) c.257A>C (p.Lys86Thr) | |
13 | g.93830457A>G | CA388465721 | GPC6,GPC6-AS2 | c.623A>G (p.Lys208Arg) n.380+359T>C c.413A>G (p.Lys138Arg) c.257A>G (p.Lys86Arg) | |
13 | g.93830457A>T | CA388465720 | GPC6,GPC6-AS2 | c.623A>T (p.Lys208Met) n.380+359T>A c.413A>T (p.Lys138Met) c.257A>T (p.Lys86Met) | |
13 | g.93830458G>A | CA484761691 | GPC6,GPC6-AS2 | c.624G>A (p.Lys208=) n.380+358C>T c.414G>A (p.Lys138=) c.258G>A (p.Lys86=) | |
13 | g.93830458G>C | CA388465722 | GPC6,GPC6-AS2 | c.624G>C (p.Lys208Asn) n.380+358C>G c.414G>C (p.Lys138Asn) c.258G>C (p.Lys86Asn) | |
13 | g.93830458G>T | CA388465723 | GPC6,GPC6-AS2 | c.624G>T (p.Lys208Asn) n.380+358C>A c.414G>T (p.Lys138Asn) c.258G>T (p.Lys86Asn) | |
13 | g.93830459A= | CA2111541484 | GPC6,GPC6-AS2 | c.625A= (p.Ile209=) n.380+357T= c.415A= (p.Ile139=) c.259A= (p.Ile87=) | |
13 | g.93830459A>C | CA388465724 | GPC6,GPC6-AS2 | c.625A>C (p.Ile209Leu) n.380+357T>G c.415A>C (p.Ile139Leu) c.259A>C (p.Ile87Leu) | |
13 | g.93830459A>G | CA388465725 | GPC6,GPC6-AS2 | c.625A>G (p.Ile209Val) n.380+357T>C c.415A>G (p.Ile139Val) c.259A>G (p.Ile87Val) | dbSNP |
13 | g.93830459A>T | CA388465726 | GPC6,GPC6-AS2 | c.625A>T (p.Ile209Phe) n.380+357T>A c.415A>T (p.Ile139Phe) c.259A>T (p.Ile87Phe) | |
13 | g.93830460T>A | CA388465727 | GPC6,GPC6-AS2 | c.626T>A (p.Ile209Asn) n.380+356A>T c.416T>A (p.Ile139Asn) c.260T>A (p.Ile87Asn) | |
13 | g.93830460T>C | CA388465728 | GPC6,GPC6-AS2 | c.626T>C (p.Ile209Thr) n.380+356A>G c.416T>C (p.Ile139Thr) c.260T>C (p.Ile87Thr) | |
13 | g.93830460T>G | CA388465729 | GPC6,GPC6-AS2 | c.626T>G (p.Ile209Ser) n.380+356A>C c.416T>G (p.Ile139Ser) c.260T>G (p.Ile87Ser) | |
13 | g.93830461dup | CA2575435829 | GPC6,GPC6-AS2 | c.627dup (p.Gln210SerfsTer?) n.380+356dup c.417dup (p.Gln140SerfsTer?) c.261dup (p.Gln88SerfsTer?) | |
13 | g.93830461T>A | CA484761696 | GPC6,GPC6-AS2 | c.627T>A (p.Ile209=) n.380+355A>T c.417T>A (p.Ile139=) c.261T>A (p.Ile87=) | |
13 | g.93830461T>C | CA484761697 | GPC6,GPC6-AS2 | c.627T>C (p.Ile209=) n.380+355A>G c.417T>C (p.Ile139=) c.261T>C (p.Ile87=) | |
13 | g.93830461T>G | CA388465730 | GPC6,GPC6-AS2 | c.627T>G (p.Ile209Met) n.380+355A>C c.417T>G (p.Ile139Met) c.261T>G (p.Ile87Met) | |
13 | g.93830462C>A | CA388465733 | GPC6,GPC6-AS2 | c.628C>A (p.Gln210Lys) n.380+354G>T c.418C>A (p.Gln140Lys) c.262C>A (p.Gln88Lys) | |
13 | g.93830462C>G | CA388465732 | GPC6,GPC6-AS2 | c.628C>G (p.Gln210Glu) n.380+354G>C c.418C>G (p.Gln140Glu) c.262C>G (p.Gln88Glu) | |
13 | g.93830462C>T | CA388465731 | GPC6,GPC6-AS2 | c.628C>T (p.Gln210Ter) n.380+354G>A c.418C>T (p.Gln140Ter) c.262C>T (p.Gln88Ter) | |
13 | g.93830463A= | CA2111541491 | GPC6,GPC6-AS2 | c.629A= (p.Gln210=) n.380+353T= c.419A= (p.Gln140=) c.263A= (p.Gln88=) | |
13 | g.93830463A>C | CA388465734 | GPC6,GPC6-AS2 | c.629A>C (p.Gln210Pro) n.380+353T>G c.419A>C (p.Gln140Pro) c.263A>C (p.Gln88Pro) | |
13 | g.93830463A>G | CA7016896 | GPC6,GPC6-AS2 | c.629A>G (p.Gln210Arg) n.380+353T>C c.419A>G (p.Gln140Arg) c.263A>G (p.Gln88Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.93830463A>T | CA388465735 | GPC6,GPC6-AS2 | c.629A>T (p.Gln210Leu) n.380+353T>A c.419A>T (p.Gln140Leu) c.263A>T (p.Gln88Leu) | gnomAD v4 |
13 | g.93830464G>A | CA484761700 | GPC6,GPC6-AS2 | c.630G>A (p.Gln210=) n.380+352C>T c.420G>A (p.Gln140=) c.264G>A (p.Gln88=) | |
13 | g.93830464G>C | CA388465736 | GPC6,GPC6-AS2 | c.630G>C (p.Gln210His) n.380+352C>G c.420G>C (p.Gln140His) c.264G>C (p.Gln88His) | |
13 | g.93830464G>T | CA388465737 | GPC6,GPC6-AS2 | c.630G>T (p.Gln210His) n.380+352C>A c.420G>T (p.Gln140His) c.264G>T (p.Gln88His) | gnomAD v4 |
13 | g.93830465G>A | CA388465738 | GPC6,GPC6-AS2 | c.631G>A (p.Val211Ile) n.380+351C>T c.421G>A (p.Val141Ile) c.265G>A (p.Val89Ile) | gnomAD v4 |
13 | g.93830465G>C | CA388465739 | GPC6,GPC6-AS2 | c.631G>C (p.Val211Leu) n.380+351C>G c.421G>C (p.Val141Leu) c.265G>C (p.Val89Leu) | |
13 | g.93830465G>T | CA388465740 | GPC6,GPC6-AS2 | c.631G>T (p.Val211Phe) n.380+351C>A c.421G>T (p.Val141Phe) c.265G>T (p.Val89Phe) | |
13 | g.93830466T>A | CA388465741 | GPC6,GPC6-AS2 | c.632T>A (p.Val211Asp) n.380+350A>T c.422T>A (p.Val141Asp) c.266T>A (p.Val89Asp) | |
13 | g.93830466T>C | CA388465742 | GPC6,GPC6-AS2 | c.632T>C (p.Val211Ala) n.380+350A>G c.422T>C (p.Val141Ala) c.266T>C (p.Val89Ala) | |
13 | g.93830466T>G | CA388465743 | GPC6,GPC6-AS2 | c.632T>G (p.Val211Gly) n.380+350A>C c.422T>G (p.Val141Gly) c.266T>G (p.Val89Gly) | |
13 | g.93830467T>A | CA484761620 | GPC6,GPC6-AS2 | c.633T>A (p.Val211=) n.380+349A>T c.423T>A (p.Val141=) c.267T>A (p.Val89=) | |
13 | g.93830467T>C | CA484761621 | GPC6,GPC6-AS2 | c.633T>C (p.Val211=) n.380+349A>G c.423T>C (p.Val141=) c.267T>C (p.Val89=) | |
13 | g.93830467T>G | CA484761622 | GPC6,GPC6-AS2 | c.633T>G (p.Val211=) n.380+349A>C c.423T>G (p.Val141=) c.267T>G (p.Val89=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.93830467T= | CA2111541500 | GPC6,GPC6-AS2 | c.633T= (p.Val211=) n.380+349A= c.423T= (p.Val141=) c.267T= (p.Val89=) | |
13 | g.93830468A= | CA2111541515 | GPC6,GPC6-AS2 | c.634A= (p.Thr212=) n.380+348T= c.424A= (p.Thr142=) c.268A= (p.Thr90=) | |
13 | g.93830468A>C | CA388465745 | GPC6,GPC6-AS2 | c.634A>C (p.Thr212Pro) n.380+348T>G c.424A>C (p.Thr142Pro) c.268A>C (p.Thr90Pro) | |
13 | g.93830468A>G | CA388465744 | GPC6,GPC6-AS2 | c.634A>G (p.Thr212Ala) n.380+348T>C c.424A>G (p.Thr142Ala) c.268A>G (p.Thr90Ala) | |
13 | g.93830468A>T | CA255001059 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830468_93830474delinsACCCGCG | CA2111541520 | GPC6,GPC6-AS2 | c.634_640delinsACCCGCG (p.Thr212=) n.380+342_380+348delinsCGCGGGT c.424_430delinsACCCGCG (p.Thr142=) c.268_274delinsACCCGCG (p.Thr90=) | |
13 | g.93830469C>A | CA388465746 | GPC6,GPC6-AS2 | c.635C>A (p.Thr212Asn) n.380+347G>T c.425C>A (p.Thr142Asn) c.269C>A (p.Thr90Asn) | gnomAD v4 |
13 | g.93830469C= | CA2111541538 | GPC6,GPC6-AS2 | c.635C= (p.Thr212=) n.380+347G= c.425C= (p.Thr142=) c.269C= (p.Thr90=) | |
13 | g.93830469C>G | CA388465747 | GPC6,GPC6-AS2 | c.635C>G (p.Thr212Ser) n.380+347G>C c.425C>G (p.Thr142Ser) c.269C>G (p.Thr90Ser) | |
13 | g.93830469C>T | CA7016897 | GPC6,GPC6-AS2 | c.635C>T (p.Thr212Ile) n.380+347G>A c.425C>T (p.Thr142Ile) c.269C>T (p.Thr90Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.93830471_93830476del | CA2111541533 | GPC6,GPC6-AS2 | c.637_642del (p.Arg213_Ala214del) n.380+342_380+347del c.427_432del (p.Arg143_Ala144del) c.271_276del (p.Arg91_Ala92del) | dbSNP |
13 | g.93830470C>A | CA484761626 | GPC6,GPC6-AS2 | c.636C>A (p.Thr212=) n.380+346G>T c.426C>A (p.Thr142=) c.270C>A (p.Thr90=) | |
13 | g.93830470C= | CA2111541546 | GPC6,GPC6-AS2 | c.636C= (p.Thr212=) n.380+346G= c.426C= (p.Thr142=) c.270C= (p.Thr90=) | |
13 | g.93830470C>G | CA484761627 | GPC6,GPC6-AS2 | c.636C>G (p.Thr212=) n.380+346G>C c.426C>G (p.Thr142=) c.270C>G (p.Thr90=) | |
13 | g.93830470C>T | CA484761628 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830471C>A | CA388465748 | GPC6,GPC6-AS2 | c.637C>A (p.Arg213Ser) n.380+345G>T c.427C>A (p.Arg143Ser) c.271C>A (p.Arg91Ser) | gnomAD v4 COSMIC |
13 | g.93830471C= | CA2111541552 | GPC6,GPC6-AS2 | c.637C= (p.Arg213=) n.380+345G= c.427C= (p.Arg143=) c.271C= (p.Arg91=) | |
13 | g.93830471C>G | CA388465749 | GPC6,GPC6-AS2 | c.637C>G (p.Arg213Gly) n.380+345G>C c.427C>G (p.Arg143Gly) c.271C>G (p.Arg91Gly) | gnomAD v4 |
13 | g.93830471C>T | CA388465750 | GPC6,GPC6-AS2 | c.637C>T (p.Arg213Cys) n.380+345G>A c.427C>T (p.Arg143Cys) c.271C>T (p.Arg91Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.93830472G>A | CA7016899 | GPC6,GPC6-AS2 | c.638G>A (p.Arg213His) n.380+344C>T c.428G>A (p.Arg143His) c.272G>A (p.Arg91His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.93830472G>C | CA388465751 | GPC6,GPC6-AS2 | c.638G>C (p.Arg213Pro) n.380+344C>G c.428G>C (p.Arg143Pro) c.272G>C (p.Arg91Pro) | |
13 | g.93830472G= | CA2111541559 | GPC6,GPC6-AS2 | c.638G= (p.Arg213=) n.380+344C= c.428G= (p.Arg143=) c.272G= (p.Arg91=) | |
13 | g.93830472G>T | CA7016898 | GPC6,GPC6-AS2 | c.638G>T (p.Arg213Leu) n.380+344C>A c.428G>T (p.Arg143Leu) c.272G>T (p.Arg91Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.93830473C>A | CA484761629 | GPC6,GPC6-AS2 | c.639C>A (p.Arg213=) n.380+343G>T c.429C>A (p.Arg143=) c.273C>A (p.Arg91=) | |
13 | g.93830473C= | CA2111541564 | GPC6,GPC6-AS2 | c.639C= (p.Arg213=) n.380+343G= c.429C= (p.Arg143=) c.273C= (p.Arg91=) | |
13 | g.93830473C>G | CA484761630 | GPC6,GPC6-AS2 | c.639C>G (p.Arg213=) n.380+343G>C c.429C>G (p.Arg143=) c.273C>G (p.Arg91=) | dbSNP gnomAD v4 |
13 | g.93830473C>T | CA7016900 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830474G>A | CA7016901 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830474G>C | CA388465752 | GPC6,GPC6-AS2 | c.640G>C (p.Ala214Pro) n.380+342C>G c.430G>C (p.Ala144Pro) c.274G>C (p.Ala92Pro) | |
13 | g.93830474G= | CA2111541576 | GPC6,GPC6-AS2 | c.640G= (p.Ala214=) n.380+342C= c.430G= (p.Ala144=) c.274G= (p.Ala92=) | |
13 | g.93830474G>T | CA388465753 | GPC6,GPC6-AS2 | c.640G>T (p.Ala214Ser) n.380+342C>A c.430G>T (p.Ala144Ser) c.274G>T (p.Ala92Ser) | |
13 | g.93830475C>A | CA388465755 | GPC6,GPC6-AS2 | c.641C>A (p.Ala214Asp) n.380+341G>T c.431C>A (p.Ala144Asp) c.275C>A (p.Ala92Asp) | |
13 | g.93830475C= | CA2111541584 | GPC6,GPC6-AS2 | c.641C= (p.Ala214=) n.380+341G= c.431C= (p.Ala144=) c.275C= (p.Ala92=) | |
13 | g.93830475C>G | CA388465756 | GPC6,GPC6-AS2 | c.641C>G (p.Ala214Gly) n.380+341G>C c.431C>G (p.Ala144Gly) c.275C>G (p.Ala92Gly) | |
13 | g.93830475C>T | CA388465754 | GPC6,GPC6-AS2 | c.641C>T (p.Ala214Val) n.380+341G>A c.431C>T (p.Ala144Val) c.275C>T (p.Ala92Val) | dbSNP |
13 | g.93830476C>A | CA484761636 | GPC6,GPC6-AS2 | c.642C>A (p.Ala214=) n.380+340G>T c.432C>A (p.Ala144=) c.276C>A (p.Ala92=) | |
13 | g.93830476C= | CA2111541592 | GPC6,GPC6-AS2 | c.642C= (p.Ala214=) n.380+340G= c.432C= (p.Ala144=) c.276C= (p.Ala92=) | |
13 | g.93830476C>G | CA484761635 | GPC6,GPC6-AS2 | c.642C>G (p.Ala214=) n.380+340G>C c.432C>G (p.Ala144=) c.276C>G (p.Ala92=) | |
13 | g.93830476C>T | CA7016902 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830477T>A | CA388465757 | GPC6,GPC6-AS2 | c.643T>A (p.Phe215Ile) n.380+339A>T c.433T>A (p.Phe145Ile) c.277T>A (p.Phe93Ile) | |
13 | g.93830477T>C | CA388465759 | GPC6,GPC6-AS2 | c.643T>C (p.Phe215Leu) n.380+339A>G c.433T>C (p.Phe145Leu) c.277T>C (p.Phe93Leu) | |
13 | g.93830477T>G | CA388465758 | GPC6,GPC6-AS2 | c.643T>G (p.Phe215Val) n.380+339A>C c.433T>G (p.Phe145Val) c.277T>G (p.Phe93Val) | |
13 | g.93830478T>A | CA388465760 | GPC6,GPC6-AS2 | c.644T>A (p.Phe215Tyr) n.380+338A>T c.434T>A (p.Phe145Tyr) c.278T>A (p.Phe93Tyr) | |
13 | g.93830478T>C | CA388465762 | GPC6,GPC6-AS2 | c.644T>C (p.Phe215Ser) n.380+338A>G c.434T>C (p.Phe145Ser) c.278T>C (p.Phe93Ser) | |
13 | g.93830478T>G | CA388465761 | GPC6,GPC6-AS2 | c.644T>G (p.Phe215Cys) n.380+338A>C c.434T>G (p.Phe145Cys) c.278T>G (p.Phe93Cys) | gnomAD v4 |
13 | g.93830479C>A | CA388465763 | GPC6,GPC6-AS2 | c.645C>A (p.Phe215Leu) n.380+337G>T c.435C>A (p.Phe145Leu) c.279C>A (p.Phe93Leu) | |
13 | g.93830479C>G | CA388465764 | GPC6,GPC6-AS2 | c.645C>G (p.Phe215Leu) n.380+337G>C c.435C>G (p.Phe145Leu) c.279C>G (p.Phe93Leu) | |
13 | g.93830479C>T | CA484761641 | GPC6,GPC6-AS2 | c.645C>T (p.Phe215=) n.380+337G>A c.435C>T (p.Phe145=) c.279C>T (p.Phe93=) | |
13 | g.93830480A= | CA2111541599 | GPC6,GPC6-AS2 | c.646A= (p.Ile216=) n.380+336T= c.436A= (p.Ile146=) c.280A= (p.Ile94=) | |
13 | g.93830480A>C | CA388465765 | GPC6,GPC6-AS2 | c.646A>C (p.Ile216Leu) n.380+336T>G c.436A>C (p.Ile146Leu) c.280A>C (p.Ile94Leu) | |
13 | g.93830480A>G | CA388465766 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830480A>T | CA388465767 | GPC6,GPC6-AS2 | c.646A>T (p.Ile216Phe) n.380+336T>A c.436A>T (p.Ile146Phe) c.280A>T (p.Ile94Phe) | |
13 | g.93830481T>A | CA388465768 | GPC6,GPC6-AS2 | c.647T>A (p.Ile216Asn) n.380+335A>T c.437T>A (p.Ile146Asn) c.281T>A (p.Ile94Asn) | |
13 | g.93830481T>C | CA388465769 | GPC6,GPC6-AS2 | c.647T>C (p.Ile216Thr) n.380+335A>G c.437T>C (p.Ile146Thr) c.281T>C (p.Ile94Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.93830481T>G | CA388465770 | GPC6,GPC6-AS2 | c.647T>G (p.Ile216Ser) n.380+335A>C c.437T>G (p.Ile146Ser) c.281T>G (p.Ile94Ser) | |
13 | g.93830481T= | CA2111541623 | GPC6,GPC6-AS2 | c.647T= (p.Ile216=) n.380+335A= c.437T= (p.Ile146=) c.281T= (p.Ile94=) | |
13 | g.93830482T>A | CA484761647 | GPC6,GPC6-AS2 | c.648T>A (p.Ile216=) n.380+334A>T c.438T>A (p.Ile146=) c.282T>A (p.Ile94=) | |
13 | g.93830482T>C | CA255001060 | GPC6,GPC6-AS2 | c.648T>C (p.Ile216=) n.380+334A>G c.438T>C (p.Ile146=) c.282T>C (p.Ile94=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.93830482T>G | CA388465771 | GPC6,GPC6-AS2 | c.648T>G (p.Ile216Met) n.380+334A>C c.438T>G (p.Ile146Met) c.282T>G (p.Ile94Met) | |
13 | g.93830482T= | CA2111541627 | GPC6,GPC6-AS2 | c.648T= (p.Ile216=) n.380+334A= c.438T= (p.Ile146=) c.282T= (p.Ile94=) | |
13 | g.93830483G>A | CA388465772 | GPC6,GPC6-AS2 | c.649G>A (p.Ala217Thr) n.380+333C>T c.439G>A (p.Ala147Thr) c.283G>A (p.Ala95Thr) | |
13 | g.93830483G>C | CA388465773 | GPC6,GPC6-AS2 | c.649G>C (p.Ala217Pro) n.380+333C>G c.439G>C (p.Ala147Pro) c.283G>C (p.Ala95Pro) | |
13 | g.93830483G>T | CA388465774 | GPC6,GPC6-AS2 | c.649G>T (p.Ala217Ser) n.380+333C>A c.439G>T (p.Ala147Ser) c.283G>T (p.Ala95Ser) | |
13 | g.93830484C>A | CA388465775 | GPC6,GPC6-AS2 | c.650C>A (p.Ala217Asp) n.380+332G>T c.440C>A (p.Ala147Asp) c.284C>A (p.Ala95Asp) | |
13 | g.93830484C>G | CA388465777 | GPC6,GPC6-AS2 | c.650C>G (p.Ala217Gly) n.380+332G>C c.440C>G (p.Ala147Gly) c.284C>G (p.Ala95Gly) | |
13 | g.93830484C>T | CA388465776 | GPC6,GPC6-AS2 | c.650C>T (p.Ala217Val) n.380+332G>A c.440C>T (p.Ala147Val) c.284C>T (p.Ala95Val) | gnomAD v4 |
13 | g.93830485T>A | CA484761651 | GPC6,GPC6-AS2 | c.651T>A (p.Ala217=) n.380+331A>T c.441T>A (p.Ala147=) c.285T>A (p.Ala95=) | gnomAD v4 |
13 | g.93830485T>C | CA484761652 | GPC6,GPC6-AS2 | c.651T>C (p.Ala217=) n.380+331A>G c.441T>C (p.Ala147=) c.285T>C (p.Ala95=) | |
13 | g.93830485T>G | CA484761653 | GPC6,GPC6-AS2 | c.651T>G (p.Ala217=) n.380+331A>C c.441T>G (p.Ala147=) c.285T>G (p.Ala95=) | |
13 | g.93830486G>A | CA388465778 | GPC6,GPC6-AS2 | c.652G>A (p.Ala218Thr) n.380+330C>T c.442G>A (p.Ala148Thr) c.286G>A (p.Ala96Thr) | |
13 | g.93830486G>C | CA388465779 | GPC6,GPC6-AS2 | c.652G>C (p.Ala218Pro) n.380+330C>G c.442G>C (p.Ala148Pro) c.286G>C (p.Ala96Pro) | |
13 | g.93830486G>T | CA388465780 | GPC6,GPC6-AS2 | c.652G>T (p.Ala218Ser) n.380+330C>A c.442G>T (p.Ala148Ser) c.286G>T (p.Ala96Ser) | |
13 | g.93830487C>A | CA388465781 | GPC6,GPC6-AS2 | c.653C>A (p.Ala218Asp) n.380+329G>T c.443C>A (p.Ala148Asp) c.287C>A (p.Ala96Asp) | |
13 | g.93830487C>G | CA388465782 | GPC6,GPC6-AS2 | c.653C>G (p.Ala218Gly) n.380+329G>C c.443C>G (p.Ala148Gly) c.287C>G (p.Ala96Gly) | |
13 | g.93830487C>T | CA388465783 | GPC6,GPC6-AS2 | c.653C>T (p.Ala218Val) n.380+329G>A c.443C>T (p.Ala148Val) c.287C>T (p.Ala96Val) | |
13 | g.93830488C>A | CA484761660 | GPC6,GPC6-AS2 | c.654C>A (p.Ala218=) n.380+328G>T c.444C>A (p.Ala148=) c.288C>A (p.Ala96=) | |
13 | g.93830488C= | CA2111541639 | GPC6,GPC6-AS2 | c.654C= (p.Ala218=) n.380+328G= c.444C= (p.Ala148=) c.288C= (p.Ala96=) | |
13 | g.93830488C>G | CA484761661 | GPC6,GPC6-AS2 | c.654C>G (p.Ala218=) n.380+328G>C c.444C>G (p.Ala148=) c.288C>G (p.Ala96=) | |
13 | g.93830488C>T | CA255001061 | GPC6,GPC6-AS2 | c.654C>T (p.Ala218=) n.380+328G>A c.444C>T (p.Ala148=) c.288C>T (p.Ala96=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.93830489A>C | CA484761662 | GPC6,GPC6-AS2 | c.655A>C (p.Arg219=) n.380+327T>G c.445A>C (p.Arg149=) c.289A>C (p.Arg97=) | |
13 | g.93830489A>G | CA388465784 | GPC6,GPC6-AS2 | c.655A>G (p.Arg219Gly) n.380+327T>C c.445A>G (p.Arg149Gly) c.289A>G (p.Arg97Gly) | gnomAD v4 |
13 | g.93830489A>T | CA388465785 | GPC6,GPC6-AS2 | c.655A>T (p.Arg219Trp) n.380+327T>A c.445A>T (p.Arg149Trp) c.289A>T (p.Arg97Trp) | |
13 | g.93830490G>A | CA388465787 | GPC6,GPC6-AS2 | c.656G>A (p.Arg219Lys) n.380+326C>T c.446G>A (p.Arg149Lys) c.290G>A (p.Arg97Lys) | |
13 | g.93830490G>C | CA7016903 | GPC6,GPC6-AS2 | c.656G>C (p.Arg219Thr) n.380+326C>G c.446G>C (p.Arg149Thr) c.290G>C (p.Arg97Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.93830490G= | CA2111541649 | GPC6,GPC6-AS2 | c.656G= (p.Arg219=) n.380+326C= c.446G= (p.Arg149=) c.290G= (p.Arg97=) | |
13 | g.93830490G>T | CA388465786 | GPC6,GPC6-AS2 | c.656G>T (p.Arg219Met) n.380+326C>A c.446G>T (p.Arg149Met) c.290G>T (p.Arg97Met) | |
13 | g.93830491G>A | CA484761669 | GPC6,GPC6-AS2 | c.657G>A (p.Arg219=) n.380+325C>T c.447G>A (p.Arg149=) c.291G>A (p.Arg97=) | |
13 | g.93830491G>C | CA388465788 | GPC6,GPC6-AS2 | c.657G>C (p.Arg219Ser) n.380+325C>G c.447G>C (p.Arg149Ser) c.291G>C (p.Arg97Ser) | |
13 | g.93830491G>T | CA388465789 | GPC6,GPC6-AS2 | c.657G>T (p.Arg219Ser) n.380+325C>A c.447G>T (p.Arg149Ser) c.291G>T (p.Arg97Ser) | |
13 | g.93830492A= | CA2111541667 | GPC6,GPC6-AS2 | c.658A= (p.Thr220=) n.380+324T= c.448A= (p.Thr150=) c.292A= (p.Thr98=) | |
13 | g.93830492A>C | CA388465790 | GPC6,GPC6-AS2 | c.658A>C (p.Thr220Pro) n.380+324T>G c.448A>C (p.Thr150Pro) c.292A>C (p.Thr98Pro) | |
13 | g.93830492A>G | CA7016904 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830492A>T | CA388465791 | GPC6,GPC6-AS2 | c.658A>T (p.Thr220Ser) n.380+324T>A c.448A>T (p.Thr150Ser) c.292A>T (p.Thr98Ser) | |
13 | g.93830493C>A | CA388465792 | GPC6,GPC6-AS2 | c.659C>A (p.Thr220Asn) n.380+323G>T c.449C>A (p.Thr150Asn) c.293C>A (p.Thr98Asn) | |
13 | g.93830493C>G | CA388465793 | GPC6,GPC6-AS2 | c.659C>G (p.Thr220Ser) n.380+323G>C c.449C>G (p.Thr150Ser) c.293C>G (p.Thr98Ser) | |
13 | g.93830493C>T | CA388465794 | GPC6,GPC6-AS2 | c.659C>T (p.Thr220Ile) n.380+323G>A c.449C>T (p.Thr150Ile) c.293C>T (p.Thr98Ile) | gnomAD v4 COSMIC |
13 | g.93830494C>A | CA484761676 | GPC6,GPC6-AS2 | c.660C>A (p.Thr220=) n.380+322G>T c.450C>A (p.Thr150=) c.294C>A (p.Thr98=) | gnomAD v4 |
13 | g.93830494C>G | CA484761677 | GPC6,GPC6-AS2 | c.660C>G (p.Thr220=) n.380+322G>C c.450C>G (p.Thr150=) c.294C>G (p.Thr98=) | |
13 | g.93830494C>T | CA484761678 | GPC6,GPC6-AS2 | c.660C>T (p.Thr220=) n.380+322G>A c.450C>T (p.Thr150=) c.294C>T (p.Thr98=) | gnomAD v4 |
13 | g.93830495T>A | CA388465795 | GPC6,GPC6-AS2 | c.661T>A (p.Phe221Ile) n.380+321A>T c.451T>A (p.Phe151Ile) c.295T>A (p.Phe99Ile) | |
13 | g.93830495T>C | CA388465796 | GPC6,GPC6-AS2 | c.661T>C (p.Phe221Leu) n.380+321A>G c.451T>C (p.Phe151Leu) c.295T>C (p.Phe99Leu) | |
13 | g.93830495T>G | CA388465797 | GPC6,GPC6-AS2 | c.661T>G (p.Phe221Val) n.380+321A>C c.451T>G (p.Phe151Val) c.295T>G (p.Phe99Val) | |
13 | g.93830496T>A | CA388465798 | GPC6,GPC6-AS2 | c.662T>A (p.Phe221Tyr) n.380+320A>T c.452T>A (p.Phe151Tyr) c.296T>A (p.Phe99Tyr) | |
13 | g.93830496T>C | CA388465799 | GPC6,GPC6-AS2 | c.662T>C (p.Phe221Ser) n.380+320A>G c.452T>C (p.Phe151Ser) c.296T>C (p.Phe99Ser) | dbSNP |
13 | g.93830496T>G | CA388465800 | GPC6,GPC6-AS2 | c.662T>G (p.Phe221Cys) n.380+320A>C c.452T>G (p.Phe151Cys) c.296T>G (p.Phe99Cys) | |
13 | g.93830496T= | CA2111541676 | GPC6,GPC6-AS2 | c.662T= (p.Phe221=) n.380+320A= c.452T= (p.Phe151=) c.296T= (p.Phe99=) | |
13 | g.93830497T>A | CA388465801 | GPC6,GPC6-AS2 | c.663T>A (p.Phe221Leu) n.380+319A>T c.453T>A (p.Phe151Leu) c.297T>A (p.Phe99Leu) | |
13 | g.93830497T>C | CA484761684 | GPC6,GPC6-AS2 | c.663T>C (p.Phe221=) n.380+319A>G c.453T>C (p.Phe151=) c.297T>C (p.Phe99=) | |
13 | g.93830497T>G | CA388465802 | GPC6,GPC6-AS2 | c.663T>G (p.Phe221Leu) n.380+319A>C c.453T>G (p.Phe151Leu) c.297T>G (p.Phe99Leu) | |
13 | g.93830498G>A | CA388465803 | GPC6,GPC6-AS2 | c.664G>A (p.Val222Ile) n.380+318C>T c.454G>A (p.Val152Ile) c.298G>A (p.Val100Ile) | |
13 | g.93830498G>C | CA388465804 | GPC6,GPC6-AS2 | c.664G>C (p.Val222Leu) n.380+318C>G c.454G>C (p.Val152Leu) c.298G>C (p.Val100Leu) | |
13 | g.93830498G>T | CA388465805 | GPC6,GPC6-AS2 | c.664G>T (p.Val222Phe) n.380+318C>A c.454G>T (p.Val152Phe) c.298G>T (p.Val100Phe) | |
13 | g.93830499T>A | CA388465806 | GPC6,GPC6-AS2 | c.665T>A (p.Val222Asp) n.380+317A>T c.455T>A (p.Val152Asp) c.299T>A (p.Val100Asp) | |
13 | g.93830499T>C | CA388465807 | GPC6,GPC6-AS2 | c.665T>C (p.Val222Ala) n.380+317A>G c.455T>C (p.Val152Ala) c.299T>C (p.Val100Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.93830499T>G | CA388465808 | GPC6,GPC6-AS2 | c.665T>G (p.Val222Gly) n.380+317A>C c.455T>G (p.Val152Gly) c.299T>G (p.Val100Gly) | |
13 | g.93830499T= | CA2111541679 | GPC6,GPC6-AS2 | c.665T= (p.Val222=) n.380+317A= c.455T= (p.Val152=) c.299T= (p.Val100=) | |
13 | g.93830500C>A | CA484761694 | GPC6,GPC6-AS2 | c.666C>A (p.Val222=) n.380+316G>T c.456C>A (p.Val152=) c.300C>A (p.Val100=) | |
13 | g.93830500C>G | CA484761690 | GPC6,GPC6-AS2 | c.666C>G (p.Val222=) n.380+316G>C c.456C>G (p.Val152=) c.300C>G (p.Val100=) | |
13 | g.93830500C>T | CA484761692 | GPC6,GPC6-AS2 | c.666C>T (p.Val222=) n.380+316G>A c.456C>T (p.Val152=) c.300C>T (p.Val100=) | |
13 | g.93830501C>A | CA388465809 | GPC6,GPC6-AS2 | c.667C>A (p.Gln223Lys) n.380+315G>T c.457C>A (p.Gln153Lys) c.301C>A (p.Gln101Lys) | |
13 | g.93830501C>G | CA388465810 | GPC6,GPC6-AS2 | c.667C>G (p.Gln223Glu) n.380+315G>C c.457C>G (p.Gln153Glu) c.301C>G (p.Gln101Glu) | |
13 | g.93830501C>T | CA388465811 | GPC6,GPC6-AS2 | c.667C>T (p.Gln223Ter) n.380+315G>A c.457C>T (p.Gln153Ter) c.301C>T (p.Gln101Ter) | |
13 | g.93830502A>C | CA388465812 | GPC6,GPC6-AS2 | c.668A>C (p.Gln223Pro) n.380+314T>G c.458A>C (p.Gln153Pro) c.302A>C (p.Gln101Pro) | |
13 | g.93830502A>G | CA388465813 | GPC6,GPC6-AS2 | c.668A>G (p.Gln223Arg) n.380+314T>C c.458A>G (p.Gln153Arg) c.302A>G (p.Gln101Arg) | |
13 | g.93830502A>T | CA388465814 | GPC6,GPC6-AS2 | c.668A>T (p.Gln223Leu) n.380+314T>A c.458A>T (p.Gln153Leu) c.302A>T (p.Gln101Leu) | |
13 | g.93830503G>A | CA484761695 | GPC6,GPC6-AS2 | c.669G>A (p.Gln223=) n.380+313C>T c.459G>A (p.Gln153=) c.303G>A (p.Gln101=) | |
13 | g.93830503G>C | CA388465815 | GPC6,GPC6-AS2 | c.669G>C (p.Gln223His) n.380+313C>G c.459G>C (p.Gln153His) c.303G>C (p.Gln101His) | |
13 | g.93830503G= | CA2111541686 | GPC6,GPC6-AS2 | c.669G= (p.Gln223=) n.380+313C= c.459G= (p.Gln153=) c.303G= (p.Gln101=) | |
13 | g.93830503G>T | CA388465816 | GPC6,GPC6-AS2 | c.669G>T (p.Gln223His) n.380+313C>A c.459G>T (p.Gln153His) c.303G>T (p.Gln101His) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.93830504G>A | CA388465817 | GPC6,GPC6-AS2 | c.670G>A (p.Gly224Arg) n.380+312C>T c.460G>A (p.Gly154Arg) c.304G>A (p.Gly102Arg) | |
13 | g.93830504G>C | CA388465819 | GPC6,GPC6-AS2 | c.670G>C (p.Gly224Arg) n.380+312C>G c.460G>C (p.Gly154Arg) c.304G>C (p.Gly102Arg) | |
13 | g.93830504G>T | CA388465818 | GPC6,GPC6-AS2 | c.670G>T (p.Gly224Trp) n.380+312C>A c.460G>T (p.Gly154Trp) c.304G>T (p.Gly102Trp) | |
13 | g.93830505G>A | CA388465820 | GPC6,GPC6-AS2 | c.671G>A (p.Gly224Glu) n.380+311C>T c.461G>A (p.Gly154Glu) c.305G>A (p.Gly102Glu) | |
13 | g.93830505G>C | CA388465821 | GPC6,GPC6-AS2 | c.671G>C (p.Gly224Ala) n.380+311C>G c.461G>C (p.Gly154Ala) c.305G>C (p.Gly102Ala) | |
13 | g.93830505G>T | CA388465822 | GPC6,GPC6-AS2 | c.671G>T (p.Gly224Val) n.380+311C>A c.461G>T (p.Gly154Val) c.305G>T (p.Gly102Val) | |
13 | g.93830506G>A | CA7016905 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830506G>C | CA484761699 | GPC6,GPC6-AS2 | c.672G>C (p.Gly224=) n.380+310C>G c.462G>C (p.Gly154=) c.306G>C (p.Gly102=) | |
13 | g.93830506G= | CA2111541692 | GPC6,GPC6-AS2 | c.672G= (p.Gly224=) n.380+310C= c.462G= (p.Gly154=) c.306G= (p.Gly102=) | |
13 | g.93830506G>T | CA484761701 | GPC6,GPC6-AS2 | c.672G>T (p.Gly224=) n.380+310C>A c.462G>T (p.Gly154=) c.306G>T (p.Gly102=) | |
13 | g.93830507C>A | CA388465823 | GPC6,GPC6-AS2 | c.673C>A (p.Leu225Met) n.380+309G>T c.463C>A (p.Leu155Met) c.307C>A (p.Leu103Met) | gnomAD v4 |
13 | g.93830507C>G | CA388465824 | GPC6,GPC6-AS2 | c.673C>G (p.Leu225Val) n.380+309G>C c.463C>G (p.Leu155Val) c.307C>G (p.Leu103Val) | |
13 | g.93830507C>T | CA484761702 | GPC6,GPC6-AS2 | c.673C>T (p.Leu225=) n.380+309G>A c.463C>T (p.Leu155=) c.307C>T (p.Leu103=) | |
13 | g.93830508T>A | CA388465825 | GPC6,GPC6-AS2 | c.674T>A (p.Leu225Gln) n.380+308A>T c.464T>A (p.Leu155Gln) c.308T>A (p.Leu103Gln) | |
13 | g.93830508T>C | CA388465826 | GPC6,GPC6-AS2 | c.674T>C (p.Leu225Pro) n.380+308A>G c.464T>C (p.Leu155Pro) c.308T>C (p.Leu103Pro) | |
13 | g.93830508T>G | CA388465827 | GPC6,GPC6-AS2 | c.674T>G (p.Leu225Arg) n.380+308A>C c.464T>G (p.Leu155Arg) c.308T>G (p.Leu103Arg) | |
13 | g.93830509G>A | CA255001062 | GPC6,GPC6-AS2 | c.675G>A (p.Leu225=) n.380+307C>T c.465G>A (p.Leu155=) c.309G>A (p.Leu103=) | dbSNP gnomAD v4 |
13 | g.93830509G>C | CA484761703 | GPC6,GPC6-AS2 | c.675G>C (p.Leu225=) n.380+307C>G c.465G>C (p.Leu155=) c.309G>C (p.Leu103=) | |
13 | g.93830509G= | CA2111541702 | GPC6,GPC6-AS2 | c.675G= (p.Leu225=) n.380+307C= c.465G= (p.Leu155=) c.309G= (p.Leu103=) | |
13 | g.93830509G>T | CA484761704 | GPC6,GPC6-AS2 | c.675G>T (p.Leu225=) n.380+307C>A c.465G>T (p.Leu155=) c.309G>T (p.Leu103=) | |
13 | g.93830510A>C | CA388465828 | GPC6,GPC6-AS2 | c.676A>C (p.Thr226Pro) n.380+306T>G c.466A>C (p.Thr156Pro) c.310A>C (p.Thr104Pro) | |
13 | g.93830510A>G | CA388465829 | GPC6,GPC6-AS2 | c.676A>G (p.Thr226Ala) n.380+306T>C c.466A>G (p.Thr156Ala) c.310A>G (p.Thr104Ala) | COSMIC |
13 | g.93830510A>T | CA388465830 | GPC6,GPC6-AS2 | c.676A>T (p.Thr226Ser) n.380+306T>A c.466A>T (p.Thr156Ser) c.310A>T (p.Thr104Ser) | |
13 | g.93830511C>A | CA388465833 | GPC6,GPC6-AS2 | c.677C>A (p.Thr226Asn) n.380+305G>T c.467C>A (p.Thr156Asn) c.311C>A (p.Thr104Asn) | |
13 | g.93830511C>G | CA388465831 | GPC6,GPC6-AS2 | c.677C>G (p.Thr226Ser) n.380+305G>C c.467C>G (p.Thr156Ser) c.311C>G (p.Thr104Ser) | |
13 | g.93830511C>T | CA388465832 | GPC6,GPC6-AS2 | c.677C>T (p.Thr226Ile) n.380+305G>A c.467C>T (p.Thr156Ile) c.311C>T (p.Thr104Ile) | |
13 | g.93830512T>A | CA484761705 | GPC6,GPC6-AS2 | c.678T>A (p.Thr226=) n.380+304A>T c.468T>A (p.Thr156=) c.312T>A (p.Thr104=) | |
13 | g.93830512T>C | CA484761706 | GPC6,GPC6-AS2 | c.678T>C (p.Thr226=) n.380+304A>G c.468T>C (p.Thr156=) c.312T>C (p.Thr104=) | |
13 | g.93830512T>G | CA484761707 | GPC6,GPC6-AS2 | c.678T>G (p.Thr226=) n.380+304A>C c.468T>G (p.Thr156=) c.312T>G (p.Thr104=) | |
13 | g.93830513G>A | CA388465834 | GPC6,GPC6-AS2 | c.679G>A (p.Val227Met) n.380+303C>T c.469G>A (p.Val157Met) c.313G>A (p.Val105Met) | |
13 | g.93830513G>C | CA388465835 | GPC6,GPC6-AS2 | c.679G>C (p.Val227Leu) n.380+303C>G c.469G>C (p.Val157Leu) c.313G>C (p.Val105Leu) | |
13 | g.93830513G>T | CA388465836 | GPC6,GPC6-AS2 | c.679G>T (p.Val227Leu) n.380+303C>A c.469G>T (p.Val157Leu) c.313G>T (p.Val105Leu) | |
13 | g.93830514T>A | CA388465837 | GPC6,GPC6-AS2 | c.680T>A (p.Val227Glu) n.380+302A>T c.470T>A (p.Val157Glu) c.314T>A (p.Val105Glu) | gnomAD v4 COSMIC |
13 | g.93830514T>C | CA388465838 | GPC6,GPC6-AS2 | c.680T>C (p.Val227Ala) n.380+302A>G c.470T>C (p.Val157Ala) c.314T>C (p.Val105Ala) | dbSNP |
13 | g.93830514T>G | CA388465839 | GPC6,GPC6-AS2 | c.680T>G (p.Val227Gly) n.380+302A>C c.470T>G (p.Val157Gly) c.314T>G (p.Val105Gly) | |
13 | g.93830514T= | CA2111541710 | GPC6,GPC6-AS2 | c.680T= (p.Val227=) n.380+302A= c.470T= (p.Val157=) c.314T= (p.Val105=) | |
13 | g.93830515G>A | CA484761708 | GPC6,GPC6-AS2 | c.681G>A (p.Val227=) n.380+301C>T c.471G>A (p.Val157=) c.315G>A (p.Val105=) | gnomAD v4 |
13 | g.93830515G>C | CA484761709 | GPC6,GPC6-AS2 | c.681G>C (p.Val227=) n.380+301C>G c.471G>C (p.Val157=) c.315G>C (p.Val105=) | |
13 | g.93830515G>T | CA484761710 | GPC6,GPC6-AS2 | c.681G>T (p.Val227=) n.380+301C>A c.471G>T (p.Val157=) c.315G>T (p.Val105=) | gnomAD v4 |
13 | g.93830516G>A | CA388465840 | GPC6,GPC6-AS2 | c.682G>A (p.Gly228Ser) n.380+300C>T c.472G>A (p.Gly158Ser) c.316G>A (p.Gly106Ser) | |
13 | g.93830516G>C | CA388465841 | GPC6,GPC6-AS2 | c.682G>C (p.Gly228Arg) n.380+300C>G c.472G>C (p.Gly158Arg) c.316G>C (p.Gly106Arg) | |
13 | g.93830516G>T | CA388465842 | GPC6,GPC6-AS2 | c.682G>T (p.Gly228Cys) n.380+300C>A c.472G>T (p.Gly158Cys) c.316G>T (p.Gly106Cys) | |
13 | g.93830517G>A | CA388465843 | GPC6,GPC6-AS2 | c.683G>A (p.Gly228Asp) n.380+299C>T c.473G>A (p.Gly158Asp) c.317G>A (p.Gly106Asp) | |
13 | g.93830517G>C | CA388465844 | GPC6,GPC6-AS2 | c.683G>C (p.Gly228Ala) n.380+299C>G c.473G>C (p.Gly158Ala) c.317G>C (p.Gly106Ala) | |
13 | g.93830517G= | CA2111541715 | GPC6,GPC6-AS2 | c.683G= (p.Gly228=) n.380+299C= c.473G= (p.Gly158=) c.317G= (p.Gly106=) | |
13 | g.93830517G>T | CA388465845 | GPC6,GPC6-AS2 | c.683G>T (p.Gly228Val) n.380+299C>A c.473G>T (p.Gly158Val) c.317G>T (p.Gly106Val) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.93830518C>A | CA484761711 | GPC6,GPC6-AS2 | c.684C>A (p.Gly228=) n.380+298G>T c.474C>A (p.Gly158=) c.318C>A (p.Gly106=) | |
13 | g.93830518C>G | CA484761712 | GPC6,GPC6-AS2 | c.684C>G (p.Gly228=) n.380+298G>C c.474C>G (p.Gly158=) c.318C>G (p.Gly106=) | |
13 | g.93830518C>T | CA484761713 | GPC6,GPC6-AS2 | c.684C>T (p.Gly228=) n.380+298G>A c.474C>T (p.Gly158=) c.318C>T (p.Gly106=) | |
13 | g.93830519A>C | CA484761714 | GPC6,GPC6-AS2 | c.685A>C (p.Arg229=) n.380+297T>G c.475A>C (p.Arg159=) c.319A>C (p.Arg107=) | |
13 | g.93830519A>G | CA388465846 | GPC6,GPC6-AS2 | c.685A>G (p.Arg229Gly) n.380+297T>C c.475A>G (p.Arg159Gly) c.319A>G (p.Arg107Gly) | |
13 | g.93830519A>T | CA388465847 | GPC6,GPC6-AS2 | c.685A>T (p.Arg229Ter) n.380+297T>A c.475A>T (p.Arg159Ter) c.319A>T (p.Arg107Ter) | |
13 | g.93830520G>A | CA7016907 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830520G>C | CA7016906 | GPC6,GPC6-AS2 | c.686G>C (p.Arg229Thr) n.380+296C>G c.476G>C (p.Arg159Thr) c.320G>C (p.Arg107Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.93830520G= | CA2111541720 | GPC6,GPC6-AS2 | c.686G= (p.Arg229=) n.380+296C= c.476G= (p.Arg159=) c.320G= (p.Arg107=) | |
13 | g.93830520G>T | CA388465848 | GPC6,GPC6-AS2 | c.686G>T (p.Arg229Ile) n.380+296C>A c.476G>T (p.Arg159Ile) c.320G>T (p.Arg107Ile) | gnomAD v4 |
13 | g.93830521A>C | CA388465849 | GPC6,GPC6-AS2 | c.687A>C (p.Arg229Ser) n.380+295T>G c.477A>C (p.Arg159Ser) c.321A>C (p.Arg107Ser) | |
13 | g.93830521A>G | CA484761715 | GPC6,GPC6-AS2 | c.687A>G (p.Arg229=) n.380+295T>C c.477A>G (p.Arg159=) c.321A>G (p.Arg107=) | |
13 | g.93830521A>T | CA388465850 | GPC6,GPC6-AS2 | c.687A>T (p.Arg229Ser) n.380+295T>A c.477A>T (p.Arg159Ser) c.321A>T (p.Arg107Ser) | |
13 | g.93830522G>A | CA388465851 | GPC6,GPC6-AS2 | c.688G>A (p.Glu230Lys) n.380+294C>T c.478G>A (p.Glu160Lys) c.322G>A (p.Glu108Lys) | |
13 | g.93830522G>C | CA388465852 | GPC6,GPC6-AS2 | c.688G>C (p.Glu230Gln) n.380+294C>G c.478G>C (p.Glu160Gln) c.322G>C (p.Glu108Gln) | |
13 | g.93830522G>T | CA388465853 | GPC6,GPC6-AS2 | c.688G>T (p.Glu230Ter) n.380+294C>A c.478G>T (p.Glu160Ter) c.322G>T (p.Glu108Ter) | |
13 | g.93830523A>C | CA388465854 | GPC6,GPC6-AS2 | c.689A>C (p.Glu230Ala) n.380+293T>G c.479A>C (p.Glu160Ala) c.323A>C (p.Glu108Ala) | |
13 | g.93830523A>G | CA388465855 | GPC6,GPC6-AS2 | c.689A>G (p.Glu230Gly) n.380+293T>C c.479A>G (p.Glu160Gly) c.323A>G (p.Glu108Gly) | |
13 | g.93830523A>T | CA388465856 | GPC6,GPC6-AS2 | c.689A>T (p.Glu230Val) n.380+293T>A c.479A>T (p.Glu160Val) c.323A>T (p.Glu108Val) | |
13 | g.93830524A= | CA2111541767 | GPC6,GPC6-AS2 | c.690A= (p.Glu230=) n.380+292T= c.480A= (p.Glu160=) c.324A= (p.Glu108=) | |
13 | g.93830524A>C | CA388465857 | GPC6,GPC6-AS2 | c.690A>C (p.Glu230Asp) n.380+292T>G c.480A>C (p.Glu160Asp) c.324A>C (p.Glu108Asp) | |
13 | g.93830524A>G | CA255001063 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830524A>T | CA388465858 | GPC6,GPC6-AS2 | c.690A>T (p.Glu230Asp) n.380+292T>A c.480A>T (p.Glu160Asp) c.324A>T (p.Glu108Asp) | |
13 | g.93830525G>A | CA388465861 | GPC6,GPC6-AS2 | c.691G>A (p.Val231Ile) n.380+291C>T c.481G>A (p.Val161Ile) c.325G>A (p.Val109Ile) | gnomAD v4 |
13 | g.93830525G>C | CA388465859 | GPC6,GPC6-AS2 | c.691G>C (p.Val231Leu) n.380+291C>G c.481G>C (p.Val161Leu) c.325G>C (p.Val109Leu) | |
13 | g.93830525G>T | CA388465860 | GPC6,GPC6-AS2 | c.691G>T (p.Val231Phe) n.380+291C>A c.481G>T (p.Val161Phe) c.325G>T (p.Val109Phe) | |
13 | g.93830526_93830528dup | CA2623380638 | GPC6,GPC6-AS2 | c.692_694dup (p.Val231_Ala232insVal) n.380+289_380+291dup c.482_484dup (p.Val161_Ala162insVal) c.326_328dup (p.Val109_Ala110insVal) | gnomAD v4 |
13 | g.93830526T>A | CA388465862 | GPC6,GPC6-AS2 | c.692T>A (p.Val231Asp) n.380+290A>T c.482T>A (p.Val161Asp) c.326T>A (p.Val109Asp) | |
13 | g.93830526T>C | CA388465863 | GPC6,GPC6-AS2 | c.692T>C (p.Val231Ala) n.380+290A>G c.482T>C (p.Val161Ala) c.326T>C (p.Val109Ala) | |
13 | g.93830526T>G | CA388465864 | GPC6,GPC6-AS2 | c.692T>G (p.Val231Gly) n.380+290A>C c.482T>G (p.Val161Gly) c.326T>G (p.Val109Gly) | gnomAD v4 |
13 | g.93830527T>A | CA484761716 | GPC6,GPC6-AS2 | c.693T>A (p.Val231=) n.380+289A>T c.483T>A (p.Val161=) c.327T>A (p.Val109=) | |
13 | g.93830527T>C | CA484761717 | GPC6,GPC6-AS2 | c.693T>C (p.Val231=) n.380+289A>G c.483T>C (p.Val161=) c.327T>C (p.Val109=) | |
13 | g.93830527T>G | CA484761718 | GPC6,GPC6-AS2 | c.693T>G (p.Val231=) n.380+289A>C c.483T>G (p.Val161=) c.327T>G (p.Val109=) | |
13 | g.93830528G>A | CA388465865 | GPC6,GPC6-AS2 | c.694G>A (p.Ala232Thr) n.380+288C>T c.484G>A (p.Ala162Thr) c.328G>A (p.Ala110Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.93830528G>C | CA388465866 | GPC6,GPC6-AS2 | c.694G>C (p.Ala232Pro) n.380+288C>G c.484G>C (p.Ala162Pro) c.328G>C (p.Ala110Pro) | |
13 | g.93830528G= | CA2111541778 | GPC6,GPC6-AS2 | c.694G= (p.Ala232=) n.380+288C= c.484G= (p.Ala162=) c.328G= (p.Ala110=) | |
13 | g.93830528G>T | CA388465867 | GPC6,GPC6-AS2 | c.694G>T (p.Ala232Ser) n.380+288C>A c.484G>T (p.Ala162Ser) c.328G>T (p.Ala110Ser) | |
13 | g.93830529C>A | CA388465868 | GPC6,GPC6-AS2 | c.695C>A (p.Ala232Glu) n.380+287G>T c.485C>A (p.Ala162Glu) c.329C>A (p.Ala110Glu) | |
13 | g.93830529C= | CA2111541783 | GPC6,GPC6-AS2 | c.695C= (p.Ala232=) n.380+287G= c.485C= (p.Ala162=) c.329C= (p.Ala110=) | |
13 | g.93830529C>G | CA388465869 | GPC6,GPC6-AS2 | c.695C>G (p.Ala232Gly) n.380+287G>C c.485C>G (p.Ala162Gly) c.329C>G (p.Ala110Gly) | dbSNP |
13 | g.93830529C>T | CA388465870 | GPC6,GPC6-AS2 | c.695C>T (p.Ala232Val) n.380+287G>A c.485C>T (p.Ala162Val) c.329C>T (p.Ala110Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.93830530A>C | CA484761719 | GPC6,GPC6-AS2 | c.696A>C (p.Ala232=) n.380+286T>G c.486A>C (p.Ala162=) c.330A>C (p.Ala110=) | |
13 | g.93830530A>G | CA484761721 | GPC6,GPC6-AS2 | c.696A>G (p.Ala232=) n.380+286T>C c.486A>G (p.Ala162=) c.330A>G (p.Ala110=) | |
13 | g.93830530A>T | CA484761720 | GPC6,GPC6-AS2 | c.696A>T (p.Ala232=) n.380+286T>A c.486A>T (p.Ala162=) c.330A>T (p.Ala110=) | |
13 | g.93830531A>C | CA388465871 | GPC6,GPC6-AS2 | c.697A>C (p.Asn233His) n.380+285T>G c.487A>C (p.Asn163His) c.331A>C (p.Asn111His) | |
13 | g.93830531A>G | CA388465872 | GPC6,GPC6-AS2 | c.697A>G (p.Asn233Asp) n.380+285T>C c.487A>G (p.Asn163Asp) c.331A>G (p.Asn111Asp) | |
13 | g.93830531A>T | CA388465873 | GPC6,GPC6-AS2 | c.697A>T (p.Asn233Tyr) n.380+285T>A c.487A>T (p.Asn163Tyr) c.331A>T (p.Asn111Tyr) | gnomAD v4 |
13 | g.93830532A>C | CA388465876 | GPC6,GPC6-AS2 | c.698A>C (p.Asn233Thr) n.380+284T>G c.488A>C (p.Asn163Thr) c.332A>C (p.Asn111Thr) | gnomAD v4 |
13 | g.93830532A>G | CA388465875 | GPC6,GPC6-AS2 | c.698A>G (p.Asn233Ser) n.380+284T>C c.488A>G (p.Asn163Ser) c.332A>G (p.Asn111Ser) | |
13 | g.93830532A>T | CA388465874 | GPC6,GPC6-AS2 | c.698A>T (p.Asn233Ile) n.380+284T>A c.488A>T (p.Asn163Ile) c.332A>T (p.Asn111Ile) | |
13 | g.93830533C>A | CA388465877 | GPC6,GPC6-AS2 | c.699C>A (p.Asn233Lys) n.380+283G>T c.489C>A (p.Asn163Lys) c.333C>A (p.Asn111Lys) | gnomAD v4 |
13 | g.93830533C>G | CA388465878 | GPC6,GPC6-AS2 | c.699C>G (p.Asn233Lys) n.380+283G>C c.489C>G (p.Asn163Lys) c.333C>G (p.Asn111Lys) | |
13 | g.93830533C>T | CA484761722 | GPC6,GPC6-AS2 | c.699C>T (p.Asn233=) n.380+283G>A c.489C>T (p.Asn163=) c.333C>T (p.Asn111=) | |
13 | g.93830534C>A | CA484761723 | GPC6,GPC6-AS2 | c.700C>A (p.Arg234=) n.380+282G>T c.490C>A (p.Arg164=) c.334C>A (p.Arg112=) | |
13 | g.93830534C= | CA2111541795 | GPC6,GPC6-AS2 | c.700C= (p.Arg234=) n.380+282G= c.490C= (p.Arg164=) c.334C= (p.Arg112=) | |
13 | g.93830534C>G | CA388465879 | GPC6,GPC6-AS2 | c.700C>G (p.Arg234Gly) n.380+282G>C c.490C>G (p.Arg164Gly) c.334C>G (p.Arg112Gly) | |
13 | g.93830534C>T | CA117584 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830535G>A | CA388465880 | GPC6,GPC6-AS2 | c.701G>A (p.Arg234Gln) n.380+281C>T c.491G>A (p.Arg164Gln) c.335G>A (p.Arg112Gln) | gnomAD v4 |
13 | g.93830535G>C | CA388465881 | GPC6,GPC6-AS2 | c.701G>C (p.Arg234Pro) n.380+281C>G c.491G>C (p.Arg164Pro) c.335G>C (p.Arg112Pro) | |
13 | g.93830535G>T | CA388465882 | GPC6,GPC6-AS2 | c.701G>T (p.Arg234Leu) n.380+281C>A c.491G>T (p.Arg164Leu) c.335G>T (p.Arg112Leu) | |
13 | g.93830535_93830536insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTC | CA2800185246 | GPC6,GPC6-AS2 | c.701_702insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTC (p.Arg235TrpfsTer7) n.380+280_380+281insGAAGTGATACTGAGGGTTTATCAGCTGAAACATCCGTTCCAG c.491_492insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTC (p.Arg165TrpfsTer7) c.335_336insCTGGAACGGATGTTTCAGCTGATAAACCCTCAGTATCACTTC (p.Arg113TrpfsTer7) | |
13 | g.93830536A= | CA2111541798 | GPC6,GPC6-AS2 | c.702A= (p.Arg234=) n.380+280T= c.492A= (p.Arg164=) c.336A= (p.Arg112=) | |
13 | g.93830536A>C | CA484761724 | GPC6,GPC6-AS2 | c.702A>C (p.Arg234=) n.380+280T>G c.492A>C (p.Arg164=) c.336A>C (p.Arg112=) | |
13 | g.93830536A>G | CA255001064 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830536A>T | CA484761725 | GPC6,GPC6-AS2 | c.702A>T (p.Arg234=) n.380+280T>A c.492A>T (p.Arg164=) c.336A>T (p.Arg112=) | |
13 | g.93830537G>A | CA388465883 | GPC6,GPC6-AS2 | c.703G>A (p.Val235Ile) n.380+279C>T c.493G>A (p.Val165Ile) c.337G>A (p.Val113Ile) | |
13 | g.93830537G>C | CA388465885 | GPC6,GPC6-AS2 | c.703G>C (p.Val235Leu) n.380+279C>G c.493G>C (p.Val165Leu) c.337G>C (p.Val113Leu) | |
13 | g.93830537G>T | CA388465884 | GPC6,GPC6-AS2 | c.703G>T (p.Val235Phe) n.380+279C>A c.493G>T (p.Val165Phe) c.337G>T (p.Val113Phe) | |
13 | g.93830538T>A | CA388465886 | GPC6,GPC6-AS2 | c.704T>A (p.Val235Asp) n.380+278A>T c.494T>A (p.Val165Asp) c.338T>A (p.Val113Asp) | |
13 | g.93830538T>C | CA388465887 | GPC6,GPC6-AS2 | c.704T>C (p.Val235Ala) n.380+278A>G c.494T>C (p.Val165Ala) c.338T>C (p.Val113Ala) | |
13 | g.93830538T>G | CA388465888 | GPC6,GPC6-AS2 | c.704T>G (p.Val235Gly) n.380+278A>C c.494T>G (p.Val165Gly) c.338T>G (p.Val113Gly) | |
13 | g.93830539T>A | CA484761726 | GPC6,GPC6-AS2 | c.705T>A (p.Val235=) n.380+277A>T c.495T>A (p.Val165=) c.339T>A (p.Val113=) | |
13 | g.93830539T>C | CA484761727 | GPC6,GPC6-AS2 | c.705T>C (p.Val235=) n.380+277A>G c.495T>C (p.Val165=) c.339T>C (p.Val113=) | gnomAD v4 |
13 | g.93830539T>G | CA255001065 | GPC6,GPC6-AS2 | c.705T>G (p.Val235=) n.380+277A>C c.495T>G (p.Val165=) c.339T>G (p.Val113=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.93830539T= | CA2111541809 | GPC6,GPC6-AS2 | c.705T= (p.Val235=) n.380+277A= c.495T= (p.Val165=) c.339T= (p.Val113=) | |
13 | g.93830540T>A | CA388465891 | GPC6,GPC6-AS2 | c.706T>A (p.Ser236Thr) n.380+276A>T c.496T>A (p.Ser166Thr) c.340T>A (p.Ser114Thr) | |
13 | g.93830540T>C | CA388465889 | GPC6,GPC6-AS2 | c.706T>C (p.Ser236Pro) n.380+276A>G c.496T>C (p.Ser166Pro) c.340T>C (p.Ser114Pro) | |
13 | g.93830540T>G | CA388465890 | GPC6,GPC6-AS2 | c.706T>G (p.Ser236Ala) n.380+276A>C c.496T>G (p.Ser166Ala) c.340T>G (p.Ser114Ala) | gnomAD v4 |
13 | g.93830541C>A | CA388465892 | GPC6,GPC6-AS2 | c.707C>A (p.Ser236Tyr) n.380+275G>T c.497C>A (p.Ser166Tyr) c.341C>A (p.Ser114Tyr) | |
13 | g.93830541C= | CA2111541818 | GPC6,GPC6-AS2 | c.707C= (p.Ser236=) n.380+275G= c.497C= (p.Ser166=) c.341C= (p.Ser114=) | |
13 | g.93830541C>G | CA388465893 | GPC6,GPC6-AS2 | c.707C>G (p.Ser236Cys) n.380+275G>C c.497C>G (p.Ser166Cys) c.341C>G (p.Ser114Cys) | dbSNP |
13 | g.93830541C>T | CA388465894 | GPC6,GPC6-AS2 | c.707C>T (p.Ser236Phe) n.380+275G>A c.497C>T (p.Ser166Phe) c.341C>T (p.Ser114Phe) | |
13 | g.93830542C>A | CA484761730 | GPC6,GPC6-AS2 | c.708C>A (p.Ser236=) n.380+274G>T c.498C>A (p.Ser166=) c.342C>A (p.Ser114=) | |
13 | g.93830542C>G | CA484761732 | GPC6,GPC6-AS2 | c.708C>G (p.Ser236=) n.380+274G>C c.498C>G (p.Ser166=) c.342C>G (p.Ser114=) | |
13 | g.93830542C>T | CA484761731 | GPC6,GPC6-AS2 | c.708C>T (p.Ser236=) n.380+274G>A c.498C>T (p.Ser166=) c.342C>T (p.Ser114=) | |
13 | g.93830543A= | CA2111541824 | GPC6,GPC6-AS2 | c.709A= (p.Lys237=) n.380+273T= c.499A= (p.Lys167=) c.343A= (p.Lys115=) | |
13 | g.93830543A>C | CA388465895 | GPC6,GPC6-AS2 | c.709A>C (p.Lys237Gln) n.380+273T>G c.499A>C (p.Lys167Gln) c.343A>C (p.Lys115Gln) | dbSNP |
13 | g.93830543A>G | CA388465896 | GPC6,GPC6-AS2 | c.709A>G (p.Lys237Glu) n.380+273T>C c.499A>G (p.Lys167Glu) c.343A>G (p.Lys115Glu) | |
13 | g.93830543A>T | CA388465897 | GPC6,GPC6-AS2 | c.709A>T (p.Lys237Ter) n.380+273T>A c.499A>T (p.Lys167Ter) c.343A>T (p.Lys115Ter) | |
13 | g.93830544A= | CA2111541828 | GPC6,GPC6-AS2 | c.710A= (p.Lys237=) n.380+272T= c.500A= (p.Lys167=) c.344A= (p.Lys115=) | |
13 | g.93830544A>C | CA388465898 | GPC6,GPC6-AS2 | c.710A>C (p.Lys237Thr) n.380+272T>G c.500A>C (p.Lys167Thr) c.344A>C (p.Lys115Thr) | |
13 | g.93830544A>G | CA7016908 | GPC6,GPC6-AS2 | c.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 |
13 | g.93830544A>T | CA388465899 | GPC6,GPC6-AS2 | c.710A>T (p.Lys237Met) n.380+272T>A c.500A>T (p.Lys167Met) c.344A>T (p.Lys115Met) | |
13 | g.93830545G>A | CA7016909 | GPC6,GPC6-AS2 | c.711G>A (p.Lys237=) n.380+271C>T c.501G>A (p.Lys167=) c.345G>A (p.Lys115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.93830545G>C | CA388465900 | GPC6,GPC6-AS2 | c.711G>C (p.Lys237Asn) n.380+271C>G c.501G>C (p.Lys167Asn) c.345G>C (p.Lys115Asn) | |
13 | g.93830545G= | CA2111541836 | GPC6,GPC6-AS2 | c.711G= (p.Lys237=) n.380+271C= c.501G= (p.Lys167=) c.345G= (p.Lys115=) | |
13 | g.93830545G>T | CA388465901 | GPC6,GPC6-AS2 | c.711G>T (p.Lys237Asn) n.380+271C>A c.501G>T (p.Lys167Asn) c.345G>T (p.Lys115Asn) | COSMIC |