Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237340466G>A | CA351194230 | COL6A3 | c.1095C>T c.7832C>T (p.Pro2611Leu) c.453C>T n.717C>T c.8450C>T (p.Pro2817Leu) c.6626C>T (p.Pro2209Leu) n.137C>T c.6629C>T (p.Pro2210Leu) n.4892C>T c.7850C>T (p.Pro2617Leu) c.7229C>T (p.Pro2410Leu) c.7949C>T (p.Pro2650Leu) c.8447C>T (p.Pro2816Leu) c.6044C>T (p.Pro2015Leu) | ClinVar |
2 | g.237340466G>C | CA351194231 | COL6A3 | c.1095C>G c.7832C>G (p.Pro2611Arg) c.453C>G n.717C>G c.8450C>G (p.Pro2817Arg) c.6626C>G (p.Pro2209Arg) n.137C>G c.6629C>G (p.Pro2210Arg) n.4892C>G c.7850C>G (p.Pro2617Arg) c.7229C>G (p.Pro2410Arg) c.7949C>G (p.Pro2650Arg) c.8447C>G (p.Pro2816Arg) c.6044C>G (p.Pro2015Arg) | |
2 | g.237340466G>T | CA351194239 | COL6A3 | c.1095C>A c.7832C>A (p.Pro2611Gln) c.453C>A n.717C>A c.8450C>A (p.Pro2817Gln) c.6626C>A (p.Pro2209Gln) n.137C>A c.6629C>A (p.Pro2210Gln) n.4892C>A c.7850C>A (p.Pro2617Gln) c.7229C>A (p.Pro2410Gln) c.7949C>A (p.Pro2650Gln) c.8447C>A (p.Pro2816Gln) c.6044C>A (p.Pro2015Gln) | |
2 | g.237340467G>A | CA351194244 | COL6A3 | c.1094C>T c.7831C>T (p.Pro2611Ser) c.452C>T n.716C>T c.8449C>T (p.Pro2817Ser) c.6625C>T (p.Pro2209Ser) n.136C>T c.6628C>T (p.Pro2210Ser) n.4891C>T c.7849C>T (p.Pro2617Ser) c.7228C>T (p.Pro2410Ser) c.7948C>T (p.Pro2650Ser) c.8446C>T (p.Pro2816Ser) c.6043C>T (p.Pro2015Ser) | ClinVar |
2 | g.237340467G>C | CA351194254 | COL6A3 | c.1094C>G c.7831C>G (p.Pro2611Ala) c.452C>G n.716C>G c.8449C>G (p.Pro2817Ala) c.6625C>G (p.Pro2209Ala) n.136C>G c.6628C>G (p.Pro2210Ala) n.4891C>G c.7849C>G (p.Pro2617Ala) c.7228C>G (p.Pro2410Ala) c.7948C>G (p.Pro2650Ala) c.8446C>G (p.Pro2816Ala) c.6043C>G (p.Pro2015Ala) | |
2 | g.237340467G= | CA1337608409 | COL6A3 | c.1094C= c.7831C= (p.Pro2611=) c.452C= n.716C= c.8449C= (p.Pro2817=) c.6625C= (p.Pro2209=) n.136C= c.6628C= (p.Pro2210=) n.4891C= c.7849C= (p.Pro2617=) c.7228C= (p.Pro2410=) c.7948C= (p.Pro2650=) c.8446C= (p.Pro2816=) c.6043C= (p.Pro2015=) | |
2 | g.237340467G>T | CA351194263 | COL6A3 | c.1094C>A c.7831C>A (p.Pro2611Thr) c.452C>A n.716C>A c.8449C>A (p.Pro2817Thr) c.6625C>A (p.Pro2209Thr) n.136C>A c.6628C>A (p.Pro2210Thr) n.4891C>A c.7849C>A (p.Pro2617Thr) c.7228C>A (p.Pro2410Thr) c.7948C>A (p.Pro2650Thr) c.8446C>A (p.Pro2816Thr) c.6043C>A (p.Pro2015Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237340468C>A | CA351194281 | COL6A3 | c.1093G>T c.7830G>T (p.Leu2610Phe) c.451G>T n.715G>T c.8448G>T (p.Leu2816Phe) c.6624G>T (p.Leu2208Phe) n.135G>T c.6627G>T (p.Leu2209Phe) n.4890G>T c.7848G>T (p.Leu2616Phe) c.7227G>T (p.Leu2409Phe) c.7947G>T (p.Leu2649Phe) c.8445G>T (p.Leu2815Phe) c.6042G>T (p.Leu2014Phe) | |
2 | g.237340468C>G | CA351194267 | COL6A3 | c.1093G>C c.7830G>C (p.Leu2610Phe) c.451G>C n.715G>C c.8448G>C (p.Leu2816Phe) c.6624G>C (p.Leu2208Phe) n.135G>C c.6627G>C (p.Leu2209Phe) n.4890G>C c.7848G>C (p.Leu2616Phe) c.7227G>C (p.Leu2409Phe) c.7947G>C (p.Leu2649Phe) c.8445G>C (p.Leu2815Phe) c.6042G>C (p.Leu2014Phe) | |
2 | g.237340468C>T | CA431675086 | COL6A3 | c.1093G>A c.7830G>A (p.Leu2610=) c.451G>A n.715G>A c.8448G>A (p.Leu2816=) c.6624G>A (p.Leu2208=) n.135G>A c.6627G>A (p.Leu2209=) n.4890G>A c.7848G>A (p.Leu2616=) c.7227G>A (p.Leu2409=) c.7947G>A (p.Leu2649=) c.8445G>A (p.Leu2815=) c.6042G>A (p.Leu2014=) | gnomAD v4 |
2 | g.237340469A>C | CA351194285 | COL6A3 | c.1092T>G c.7829T>G (p.Leu2610Trp) c.450T>G n.714T>G c.8447T>G (p.Leu2816Trp) c.6623T>G (p.Leu2208Trp) n.134T>G c.6626T>G (p.Leu2209Trp) n.4889T>G c.7847T>G (p.Leu2616Trp) c.7226T>G (p.Leu2409Trp) c.7946T>G (p.Leu2649Trp) c.8444T>G (p.Leu2815Trp) c.6041T>G (p.Leu2014Trp) | |
2 | g.237340469A>G | CA351194288 | COL6A3 | c.1092T>C c.7829T>C (p.Leu2610Ser) c.450T>C n.714T>C c.8447T>C (p.Leu2816Ser) c.6623T>C (p.Leu2208Ser) n.134T>C c.6626T>C (p.Leu2209Ser) n.4889T>C c.7847T>C (p.Leu2616Ser) c.7226T>C (p.Leu2409Ser) c.7946T>C (p.Leu2649Ser) c.8444T>C (p.Leu2815Ser) c.6041T>C (p.Leu2014Ser) | |
2 | g.237340469A>T | CA351194291 | COL6A3 | c.1092T>A c.7829T>A (p.Leu2610Ter) c.450T>A n.714T>A c.8447T>A (p.Leu2816Ter) c.6623T>A (p.Leu2208Ter) n.134T>A c.6626T>A (p.Leu2209Ter) n.4889T>A c.7847T>A (p.Leu2616Ter) c.7226T>A (p.Leu2409Ter) c.7946T>A (p.Leu2649Ter) c.8444T>A (p.Leu2815Ter) c.6041T>A (p.Leu2014Ter) | |
2 | g.237340470A>C | CA351194303 | COL6A3 | c.1091T>G c.7828T>G (p.Leu2610Val) c.449T>G n.713T>G c.8446T>G (p.Leu2816Val) c.6622T>G (p.Leu2208Val) n.133T>G c.6625T>G (p.Leu2209Val) n.4888T>G c.7846T>G (p.Leu2616Val) c.7225T>G (p.Leu2409Val) c.7945T>G (p.Leu2649Val) c.8443T>G (p.Leu2815Val) c.6040T>G (p.Leu2014Val) | |
2 | g.237340470A>G | CA431675088 | COL6A3 | c.1091T>C c.7828T>C (p.Leu2610=) c.449T>C n.713T>C c.8446T>C (p.Leu2816=) c.6622T>C (p.Leu2208=) n.133T>C c.6625T>C (p.Leu2209=) n.4888T>C c.7846T>C (p.Leu2616=) c.7225T>C (p.Leu2409=) c.7945T>C (p.Leu2649=) c.8443T>C (p.Leu2815=) c.6040T>C (p.Leu2014=) | |
2 | g.237340470A>T | CA351194310 | COL6A3 | c.1091T>A c.7828T>A (p.Leu2610Met) c.449T>A n.713T>A c.8446T>A (p.Leu2816Met) c.6622T>A (p.Leu2208Met) n.133T>A c.6625T>A (p.Leu2209Met) n.4888T>A c.7846T>A (p.Leu2616Met) c.7225T>A (p.Leu2409Met) c.7945T>A (p.Leu2649Met) c.8443T>A (p.Leu2815Met) c.6040T>A (p.Leu2014Met) | |
2 | g.237340471C>A | CA431675090 | COL6A3 | c.1090G>T c.7827G>T (p.Leu2609=) c.448G>T n.712G>T c.8445G>T (p.Leu2815=) c.6621G>T (p.Leu2207=) n.132G>T c.6624G>T (p.Leu2208=) n.4887G>T c.7845G>T (p.Leu2615=) c.7224G>T (p.Leu2408=) c.7944G>T (p.Leu2648=) c.8442G>T (p.Leu2814=) c.6039G>T (p.Leu2013=) | |
2 | g.237340471C= | CA1337608412 | COL6A3 | c.1090G= c.7827G= (p.Leu2609=) c.448G= n.712G= c.8445G= (p.Leu2815=) c.6621G= (p.Leu2207=) n.132G= c.6624G= (p.Leu2208=) n.4887G= c.7845G= (p.Leu2615=) c.7224G= (p.Leu2408=) c.7944G= (p.Leu2648=) c.8442G= (p.Leu2814=) c.6039G= (p.Leu2013=) | |
2 | g.237340471C>G | CA431675091 | COL6A3 | c.1090G>C c.7827G>C (p.Leu2609=) c.448G>C n.712G>C c.8445G>C (p.Leu2815=) c.6621G>C (p.Leu2207=) n.132G>C c.6624G>C (p.Leu2208=) n.4887G>C c.7845G>C (p.Leu2615=) c.7224G>C (p.Leu2408=) c.7944G>C (p.Leu2648=) c.8442G>C (p.Leu2814=) c.6039G>C (p.Leu2013=) | |
2 | g.237340471C>T | CA2187547 | COL6A3 | c.1090G>A c.7827G>A (p.Leu2609=) c.448G>A n.712G>A c.8445G>A (p.Leu2815=) c.6621G>A (p.Leu2207=) n.132G>A c.6624G>A (p.Leu2208=) n.4887G>A c.7845G>A (p.Leu2615=) c.7224G>A (p.Leu2408=) c.7944G>A (p.Leu2648=) c.8442G>A (p.Leu2814=) c.6039G>A (p.Leu2013=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340472A>C | CA351194315 | COL6A3 | c.1089T>G c.7826T>G (p.Leu2609Arg) c.447T>G n.711T>G c.8444T>G (p.Leu2815Arg) c.6620T>G (p.Leu2207Arg) n.131T>G c.6623T>G (p.Leu2208Arg) n.4886T>G c.7844T>G (p.Leu2615Arg) c.7223T>G (p.Leu2408Arg) c.7943T>G (p.Leu2648Arg) c.8441T>G (p.Leu2814Arg) c.6038T>G (p.Leu2013Arg) | |
2 | g.237340472A>G | CA351194317 | COL6A3 | c.1089T>C c.7826T>C (p.Leu2609Pro) c.447T>C n.711T>C c.8444T>C (p.Leu2815Pro) c.6620T>C (p.Leu2207Pro) n.131T>C c.6623T>C (p.Leu2208Pro) n.4886T>C c.7844T>C (p.Leu2615Pro) c.7223T>C (p.Leu2408Pro) c.7943T>C (p.Leu2648Pro) c.8441T>C (p.Leu2814Pro) c.6038T>C (p.Leu2013Pro) | |
2 | g.237340472A>T | CA351194324 | COL6A3 | c.1089T>A c.7826T>A (p.Leu2609Gln) c.447T>A n.711T>A c.8444T>A (p.Leu2815Gln) c.6620T>A (p.Leu2207Gln) n.131T>A c.6623T>A (p.Leu2208Gln) n.4886T>A c.7844T>A (p.Leu2615Gln) c.7223T>A (p.Leu2408Gln) c.7943T>A (p.Leu2648Gln) c.8441T>A (p.Leu2814Gln) c.6038T>A (p.Leu2013Gln) | |
2 | g.237340473G>A | CA431675092 | COL6A3 | c.1088C>T c.7825C>T (p.Leu2609=) c.446C>T n.710C>T c.8443C>T (p.Leu2815=) c.6619C>T (p.Leu2207=) n.130C>T c.6622C>T (p.Leu2208=) n.4885C>T c.7843C>T (p.Leu2615=) c.7222C>T (p.Leu2408=) c.7942C>T (p.Leu2648=) c.8440C>T (p.Leu2814=) c.6037C>T (p.Leu2013=) | |
2 | g.237340473G>C | CA351194326 | COL6A3 | c.1088C>G c.7825C>G (p.Leu2609Val) c.446C>G n.710C>G c.8443C>G (p.Leu2815Val) c.6619C>G (p.Leu2207Val) n.130C>G c.6622C>G (p.Leu2208Val) n.4885C>G c.7843C>G (p.Leu2615Val) c.7222C>G (p.Leu2408Val) c.7942C>G (p.Leu2648Val) c.8440C>G (p.Leu2814Val) c.6037C>G (p.Leu2013Val) | |
2 | g.237340473G>T | CA351194328 | COL6A3 | c.1088C>A c.7825C>A (p.Leu2609Met) c.446C>A n.710C>A c.8443C>A (p.Leu2815Met) c.6619C>A (p.Leu2207Met) n.130C>A c.6622C>A (p.Leu2208Met) n.4885C>A c.7843C>A (p.Leu2615Met) c.7222C>A (p.Leu2408Met) c.7942C>A (p.Leu2648Met) c.8440C>A (p.Leu2814Met) c.6037C>A (p.Leu2013Met) | gnomAD v4 |
2 | g.237340474C>A | CA351194337 | COL6A3 | c.1087G>T c.7824G>T (p.Arg2608Ser) c.445G>T n.709G>T c.8442G>T (p.Arg2814Ser) c.6618G>T (p.Arg2206Ser) n.129G>T c.6621G>T (p.Arg2207Ser) n.4884G>T c.7842G>T (p.Arg2614Ser) c.7221G>T (p.Arg2407Ser) c.7941G>T (p.Arg2647Ser) c.8439G>T (p.Arg2813Ser) c.6036G>T (p.Arg2012Ser) | |
2 | g.237340474C>G | CA351194361 | COL6A3 | c.1087G>C c.7824G>C (p.Arg2608Ser) c.445G>C n.709G>C c.8442G>C (p.Arg2814Ser) c.6618G>C (p.Arg2206Ser) n.129G>C c.6621G>C (p.Arg2207Ser) n.4884G>C c.7842G>C (p.Arg2614Ser) c.7221G>C (p.Arg2407Ser) c.7941G>C (p.Arg2647Ser) c.8439G>C (p.Arg2813Ser) c.6036G>C (p.Arg2012Ser) | |
2 | g.237340474C>T | CA431675095 | COL6A3 | c.1087G>A c.7824G>A (p.Arg2608=) c.445G>A n.709G>A c.8442G>A (p.Arg2814=) c.6618G>A (p.Arg2206=) n.129G>A c.6621G>A (p.Arg2207=) n.4884G>A c.7842G>A (p.Arg2614=) c.7221G>A (p.Arg2407=) c.7941G>A (p.Arg2647=) c.8439G>A (p.Arg2813=) c.6036G>A (p.Arg2012=) | |
2 | g.237340475C>A | CA351194390 | COL6A3 | c.1086G>T c.7823G>T (p.Arg2608Met) c.444G>T n.708G>T c.8441G>T (p.Arg2814Met) c.6617G>T (p.Arg2206Met) n.128G>T c.6620G>T (p.Arg2207Met) n.4883G>T c.7841G>T (p.Arg2614Met) c.7220G>T (p.Arg2407Met) c.7940G>T (p.Arg2647Met) c.8438G>T (p.Arg2813Met) c.6035G>T (p.Arg2012Met) | |
2 | g.237340475C= | CA1337608414 | COL6A3 | c.1086G= c.7823G= (p.Arg2608=) c.444G= n.708G= c.8441G= (p.Arg2814=) c.6617G= (p.Arg2206=) n.128G= c.6620G= (p.Arg2207=) n.4883G= c.7841G= (p.Arg2614=) c.7220G= (p.Arg2407=) c.7940G= (p.Arg2647=) c.8438G= (p.Arg2813=) c.6035G= (p.Arg2012=) | |
2 | g.237340475C>G | CA351194380 | COL6A3 | c.1086G>C c.7823G>C (p.Arg2608Thr) c.444G>C n.708G>C c.8441G>C (p.Arg2814Thr) c.6617G>C (p.Arg2206Thr) n.128G>C c.6620G>C (p.Arg2207Thr) n.4883G>C c.7841G>C (p.Arg2614Thr) c.7220G>C (p.Arg2407Thr) c.7940G>C (p.Arg2647Thr) c.8438G>C (p.Arg2813Thr) c.6035G>C (p.Arg2012Thr) | |
2 | g.237340475C>T | CA351194385 | COL6A3 | c.1086G>A c.7823G>A (p.Arg2608Lys) c.444G>A n.708G>A c.8441G>A (p.Arg2814Lys) c.6617G>A (p.Arg2206Lys) n.128G>A c.6620G>A (p.Arg2207Lys) n.4883G>A c.7841G>A (p.Arg2614Lys) c.7220G>A (p.Arg2407Lys) c.7940G>A (p.Arg2647Lys) c.8438G>A (p.Arg2813Lys) c.6035G>A (p.Arg2012Lys) | dbSNP |
2 | g.237340476T>A | CA351194393 | COL6A3 | c.1085A>T c.7822A>T (p.Arg2608Trp) c.443A>T n.707A>T c.8440A>T (p.Arg2814Trp) c.6616A>T (p.Arg2206Trp) n.127A>T c.6619A>T (p.Arg2207Trp) n.4882A>T c.7840A>T (p.Arg2614Trp) c.7219A>T (p.Arg2407Trp) c.7939A>T (p.Arg2647Trp) c.8437A>T (p.Arg2813Trp) c.6034A>T (p.Arg2012Trp) | ClinVar dbSNP gnomAD v4 |
2 | g.237340476T>C | CA351194397 | COL6A3 | c.1085A>G c.7822A>G (p.Arg2608Gly) c.443A>G n.707A>G c.8440A>G (p.Arg2814Gly) c.6616A>G (p.Arg2206Gly) n.127A>G c.6619A>G (p.Arg2207Gly) n.4882A>G c.7840A>G (p.Arg2614Gly) c.7219A>G (p.Arg2407Gly) c.7939A>G (p.Arg2647Gly) c.8437A>G (p.Arg2813Gly) c.6034A>G (p.Arg2012Gly) | |
2 | g.237340476T>G | CA431675098 | COL6A3 | c.1085A>C c.7822A>C (p.Arg2608=) c.443A>C n.707A>C c.8440A>C (p.Arg2814=) c.6616A>C (p.Arg2206=) n.127A>C c.6619A>C (p.Arg2207=) n.4882A>C c.7840A>C (p.Arg2614=) c.7219A>C (p.Arg2407=) c.7939A>C (p.Arg2647=) c.8437A>C (p.Arg2813=) c.6034A>C (p.Arg2012=) | |
2 | g.237340476T= | CA1337608419 | COL6A3 | c.1085A= c.7822A= (p.Arg2608=) c.443A= n.707A= c.8440A= (p.Arg2814=) c.6616A= (p.Arg2206=) n.127A= c.6619A= (p.Arg2207=) n.4882A= c.7840A= (p.Arg2614=) c.7219A= (p.Arg2407=) c.7939A= (p.Arg2647=) c.8437A= (p.Arg2813=) c.6034A= (p.Arg2012=) | |
2 | g.237340477C>A | CA431675101 | COL6A3 | c.1084G>T c.7821G>T (p.Gly2607=) c.442G>T n.706G>T c.8439G>T (p.Gly2813=) c.6615G>T (p.Gly2205=) n.126G>T c.6618G>T (p.Gly2206=) n.4881G>T c.7839G>T (p.Gly2613=) c.7218G>T (p.Gly2406=) c.7938G>T (p.Gly2646=) c.8436G>T (p.Gly2812=) c.6033G>T (p.Gly2011=) | |
2 | g.237340477C= | CA1337608425 | COL6A3 | c.1084G= c.7821G= (p.Gly2607=) c.442G= n.706G= c.8439G= (p.Gly2813=) c.6615G= (p.Gly2205=) n.126G= c.6618G= (p.Gly2206=) n.4881G= c.7839G= (p.Gly2613=) c.7218G= (p.Gly2406=) c.7938G= (p.Gly2646=) c.8436G= (p.Gly2812=) c.6033G= (p.Gly2011=) | |
2 | g.237340477C>G | CA431675099 | COL6A3 | c.1084G>C c.7821G>C (p.Gly2607=) c.442G>C n.706G>C c.8439G>C (p.Gly2813=) c.6615G>C (p.Gly2205=) n.126G>C c.6618G>C (p.Gly2206=) n.4881G>C c.7839G>C (p.Gly2613=) c.7218G>C (p.Gly2406=) c.7938G>C (p.Gly2646=) c.8436G>C (p.Gly2812=) c.6033G>C (p.Gly2011=) | gnomAD v4 |
2 | g.237340477C>T | CA431675100 | COL6A3 | c.1084G>A c.7821G>A (p.Gly2607=) c.442G>A n.706G>A c.8439G>A (p.Gly2813=) c.6615G>A (p.Gly2205=) n.126G>A c.6618G>A (p.Gly2206=) n.4881G>A c.7839G>A (p.Gly2613=) c.7218G>A (p.Gly2406=) c.7938G>A (p.Gly2646=) c.8436G>A (p.Gly2812=) c.6033G>A (p.Gly2011=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237340478C>A | CA351194400 | COL6A3 | c.1083G>T c.7820G>T (p.Gly2607Val) c.441G>T n.705G>T c.8438G>T (p.Gly2813Val) c.6614G>T (p.Gly2205Val) n.125G>T c.6617G>T (p.Gly2206Val) n.4880G>T c.7838G>T (p.Gly2613Val) c.7217G>T (p.Gly2406Val) c.7937G>T (p.Gly2646Val) c.8435G>T (p.Gly2812Val) c.6032G>T (p.Gly2011Val) | |
2 | g.237340478C>G | CA351194407 | COL6A3 | c.1083G>C c.7820G>C (p.Gly2607Ala) c.441G>C n.705G>C c.8438G>C (p.Gly2813Ala) c.6614G>C (p.Gly2205Ala) n.125G>C c.6617G>C (p.Gly2206Ala) n.4880G>C c.7838G>C (p.Gly2613Ala) c.7217G>C (p.Gly2406Ala) c.7937G>C (p.Gly2646Ala) c.8435G>C (p.Gly2812Ala) c.6032G>C (p.Gly2011Ala) | |
2 | g.237340478C>T | CA351194405 | COL6A3 | c.1083G>A c.7820G>A (p.Gly2607Glu) c.441G>A n.705G>A c.8438G>A (p.Gly2813Glu) c.6614G>A (p.Gly2205Glu) n.125G>A c.6617G>A (p.Gly2206Glu) n.4880G>A c.7838G>A (p.Gly2613Glu) c.7217G>A (p.Gly2406Glu) c.7937G>A (p.Gly2646Glu) c.8435G>A (p.Gly2812Glu) c.6032G>A (p.Gly2011Glu) | |
2 | g.237340479C>A | CA351194414 | COL6A3 | c.1082G>T c.7819G>T (p.Gly2607Trp) c.440G>T n.704G>T c.8437G>T (p.Gly2813Trp) c.6613G>T (p.Gly2205Trp) n.124G>T c.6616G>T (p.Gly2206Trp) n.4879G>T c.7837G>T (p.Gly2613Trp) c.7216G>T (p.Gly2406Trp) c.7936G>T (p.Gly2646Trp) c.8434G>T (p.Gly2812Trp) c.6031G>T (p.Gly2011Trp) | |
2 | g.237340479C= | CA1337608429 | COL6A3 | c.1082G= c.7819G= (p.Gly2607=) c.440G= n.704G= c.8437G= (p.Gly2813=) c.6613G= (p.Gly2205=) n.124G= c.6616G= (p.Gly2206=) n.4879G= c.7837G= (p.Gly2613=) c.7216G= (p.Gly2406=) c.7936G= (p.Gly2646=) c.8434G= (p.Gly2812=) c.6031G= (p.Gly2011=) | |
2 | g.237340479C>G | CA351194424 | COL6A3 | c.1082G>C c.7819G>C (p.Gly2607Arg) c.440G>C n.704G>C c.8437G>C (p.Gly2813Arg) c.6613G>C (p.Gly2205Arg) n.124G>C c.6616G>C (p.Gly2206Arg) n.4879G>C c.7837G>C (p.Gly2613Arg) c.7216G>C (p.Gly2406Arg) c.7936G>C (p.Gly2646Arg) c.8434G>C (p.Gly2812Arg) c.6031G>C (p.Gly2011Arg) | dbSNP |
2 | g.237340479C>T | CA2187548 | COL6A3 | c.1082G>A c.7819G>A (p.Gly2607Arg) c.440G>A n.704G>A c.8437G>A (p.Gly2813Arg) c.6613G>A (p.Gly2205Arg) n.124G>A c.6616G>A (p.Gly2206Arg) n.4879G>A c.7837G>A (p.Gly2613Arg) c.7216G>A (p.Gly2406Arg) c.7936G>A (p.Gly2646Arg) c.8434G>A (p.Gly2812Arg) c.6031G>A (p.Gly2011Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340480G>A | CA2187549 | COL6A3 | c.1081C>T c.7818C>T (p.Phe2606=) c.439C>T n.703C>T c.8436C>T (p.Phe2812=) c.6612C>T (p.Phe2204=) n.123C>T c.6615C>T (p.Phe2205=) n.4878C>T c.7836C>T (p.Phe2612=) c.7215C>T (p.Phe2405=) c.7935C>T (p.Phe2645=) c.8433C>T (p.Phe2811=) c.6030C>T (p.Phe2010=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340480G>C | CA351194431 | COL6A3 | c.1081C>G c.7818C>G (p.Phe2606Leu) c.439C>G n.703C>G c.8436C>G (p.Phe2812Leu) c.6612C>G (p.Phe2204Leu) n.123C>G c.6615C>G (p.Phe2205Leu) n.4878C>G c.7836C>G (p.Phe2612Leu) c.7215C>G (p.Phe2405Leu) c.7935C>G (p.Phe2645Leu) c.8433C>G (p.Phe2811Leu) c.6030C>G (p.Phe2010Leu) | gnomAD v4 |
2 | g.237340480G= | CA1337608436 | COL6A3 | c.1081C= c.7818C= (p.Phe2606=) c.439C= n.703C= c.8436C= (p.Phe2812=) c.6612C= (p.Phe2204=) n.123C= c.6615C= (p.Phe2205=) n.4878C= c.7836C= (p.Phe2612=) c.7215C= (p.Phe2405=) c.7935C= (p.Phe2645=) c.8433C= (p.Phe2811=) c.6030C= (p.Phe2010=) | |
2 | g.237340480G>T | CA351194429 | COL6A3 | c.1081C>A c.7818C>A (p.Phe2606Leu) c.439C>A n.703C>A c.8436C>A (p.Phe2812Leu) c.6612C>A (p.Phe2204Leu) n.123C>A c.6615C>A (p.Phe2205Leu) n.4878C>A c.7836C>A (p.Phe2612Leu) c.7215C>A (p.Phe2405Leu) c.7935C>A (p.Phe2645Leu) c.8433C>A (p.Phe2811Leu) c.6030C>A (p.Phe2010Leu) | |
2 | g.237340481A= | CA1337608442 | COL6A3 | c.1080T= c.7817T= (p.Phe2606=) c.438T= n.702T= c.8435T= (p.Phe2812=) c.6611T= (p.Phe2204=) n.122T= c.6614T= (p.Phe2205=) n.4877T= c.7835T= (p.Phe2612=) c.7214T= (p.Phe2405=) c.7934T= (p.Phe2645=) c.8432T= (p.Phe2811=) c.6029T= (p.Phe2010=) | |
2 | g.237340481A>C | CA2187550 | COL6A3 | c.1080T>G c.7817T>G (p.Phe2606Cys) c.438T>G n.702T>G c.8435T>G (p.Phe2812Cys) c.6611T>G (p.Phe2204Cys) n.122T>G c.6614T>G (p.Phe2205Cys) n.4877T>G c.7835T>G (p.Phe2612Cys) c.7214T>G (p.Phe2405Cys) c.7934T>G (p.Phe2645Cys) c.8432T>G (p.Phe2811Cys) c.6029T>G (p.Phe2010Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340481A>G | CA351194438 | COL6A3 | c.1080T>C c.7817T>C (p.Phe2606Ser) c.438T>C n.702T>C c.8435T>C (p.Phe2812Ser) c.6611T>C (p.Phe2204Ser) n.122T>C c.6614T>C (p.Phe2205Ser) n.4877T>C c.7835T>C (p.Phe2612Ser) c.7214T>C (p.Phe2405Ser) c.7934T>C (p.Phe2645Ser) c.8432T>C (p.Phe2811Ser) c.6029T>C (p.Phe2010Ser) | |
2 | g.237340481A>T | CA351194439 | COL6A3 | c.1080T>A c.7817T>A (p.Phe2606Tyr) c.438T>A n.702T>A c.8435T>A (p.Phe2812Tyr) c.6611T>A (p.Phe2204Tyr) n.122T>A c.6614T>A (p.Phe2205Tyr) n.4877T>A c.7835T>A (p.Phe2612Tyr) c.7214T>A (p.Phe2405Tyr) c.7934T>A (p.Phe2645Tyr) c.8432T>A (p.Phe2811Tyr) c.6029T>A (p.Phe2010Tyr) | |
2 | g.237340482A= | CA1337608444 | COL6A3 | c.1079T= c.7816T= (p.Phe2606=) c.437T= n.701T= c.8434T= (p.Phe2812=) c.6610T= (p.Phe2204=) n.121T= c.6613T= (p.Phe2205=) n.4876T= c.7834T= (p.Phe2612=) c.7213T= (p.Phe2405=) c.7933T= (p.Phe2645=) c.8431T= (p.Phe2811=) c.6028T= (p.Phe2010=) | |
2 | g.237340482A>C | CA351194446 | COL6A3 | c.1079T>G c.7816T>G (p.Phe2606Val) c.437T>G n.701T>G c.8434T>G (p.Phe2812Val) c.6610T>G (p.Phe2204Val) n.121T>G c.6613T>G (p.Phe2205Val) n.4876T>G c.7834T>G (p.Phe2612Val) c.7213T>G (p.Phe2405Val) c.7933T>G (p.Phe2645Val) c.8431T>G (p.Phe2811Val) c.6028T>G (p.Phe2010Val) | |
2 | g.237340482A>G | CA351194451 | COL6A3 | c.1079T>C c.7816T>C (p.Phe2606Leu) c.437T>C n.701T>C c.8434T>C (p.Phe2812Leu) c.6610T>C (p.Phe2204Leu) n.121T>C c.6613T>C (p.Phe2205Leu) n.4876T>C c.7834T>C (p.Phe2612Leu) c.7213T>C (p.Phe2405Leu) c.7933T>C (p.Phe2645Leu) c.8431T>C (p.Phe2811Leu) c.6028T>C (p.Phe2010Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237340482A>T | CA351194454 | COL6A3 | c.1079T>A c.7816T>A (p.Phe2606Ile) c.437T>A n.701T>A c.8434T>A (p.Phe2812Ile) c.6610T>A (p.Phe2204Ile) n.121T>A c.6613T>A (p.Phe2205Ile) n.4876T>A c.7834T>A (p.Phe2612Ile) c.7213T>A (p.Phe2405Ile) c.7933T>A (p.Phe2645Ile) c.8431T>A (p.Phe2811Ile) c.6028T>A (p.Phe2010Ile) | |
2 | g.237340483G>A | CA431675104 | COL6A3 | c.1078C>T c.7815C>T (p.Arg2605=) c.436C>T n.700C>T c.8433C>T (p.Arg2811=) c.6609C>T (p.Arg2203=) n.120C>T c.6612C>T (p.Arg2204=) n.4875C>T c.7833C>T (p.Arg2611=) c.7212C>T (p.Arg2404=) c.7932C>T (p.Arg2644=) c.8430C>T (p.Arg2810=) c.6027C>T (p.Arg2009=) | dbSNP |
2 | g.237340483G>C | CA431675105 | COL6A3 | c.1078C>G c.7815C>G (p.Arg2605=) c.436C>G n.700C>G c.8433C>G (p.Arg2811=) c.6609C>G (p.Arg2203=) n.120C>G c.6612C>G (p.Arg2204=) n.4875C>G c.7833C>G (p.Arg2611=) c.7212C>G (p.Arg2404=) c.7932C>G (p.Arg2644=) c.8430C>G (p.Arg2810=) c.6027C>G (p.Arg2009=) | |
2 | g.237340483G= | CA1337608446 | COL6A3 | c.1078C= c.7815C= (p.Arg2605=) c.436C= n.700C= c.8433C= (p.Arg2811=) c.6609C= (p.Arg2203=) n.120C= c.6612C= (p.Arg2204=) n.4875C= c.7833C= (p.Arg2611=) c.7212C= (p.Arg2404=) c.7932C= (p.Arg2644=) c.8430C= (p.Arg2810=) c.6027C= (p.Arg2009=) | |
2 | g.237340483G>T | CA431675106 | COL6A3 | c.1078C>A c.7815C>A (p.Arg2605=) c.436C>A n.700C>A c.8433C>A (p.Arg2811=) c.6609C>A (p.Arg2203=) n.120C>A c.6612C>A (p.Arg2204=) n.4875C>A c.7833C>A (p.Arg2611=) c.7212C>A (p.Arg2404=) c.7932C>A (p.Arg2644=) c.8430C>A (p.Arg2810=) c.6027C>A (p.Arg2009=) | |
2 | g.237340484C>A | CA351194460 | COL6A3 | c.1077G>T c.7814G>T (p.Arg2605Leu) c.435G>T n.699G>T c.8432G>T (p.Arg2811Leu) c.6608G>T (p.Arg2203Leu) n.119G>T c.6611G>T (p.Arg2204Leu) n.4874G>T c.7832G>T (p.Arg2611Leu) c.7211G>T (p.Arg2404Leu) c.7931G>T (p.Arg2644Leu) c.8429G>T (p.Arg2810Leu) c.6026G>T (p.Arg2009Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237340484C= | CA1337608449 | COL6A3 | c.1077G= c.7814G= (p.Arg2605=) c.435G= n.699G= c.8432G= (p.Arg2811=) c.6608G= (p.Arg2203=) n.119G= c.6611G= (p.Arg2204=) n.4874G= c.7832G= (p.Arg2611=) c.7211G= (p.Arg2404=) c.7931G= (p.Arg2644=) c.8429G= (p.Arg2810=) c.6026G= (p.Arg2009=) | |
2 | g.237340484C>G | CA351194468 | COL6A3 | c.1077G>C c.7814G>C (p.Arg2605Pro) c.435G>C n.699G>C c.8432G>C (p.Arg2811Pro) c.6608G>C (p.Arg2203Pro) n.119G>C c.6611G>C (p.Arg2204Pro) n.4874G>C c.7832G>C (p.Arg2611Pro) c.7211G>C (p.Arg2404Pro) c.7931G>C (p.Arg2644Pro) c.8429G>C (p.Arg2810Pro) c.6026G>C (p.Arg2009Pro) | |
2 | g.237340484C>T | CA2187551 | COL6A3 | c.1077G>A c.7814G>A (p.Arg2605His) c.435G>A n.699G>A c.8432G>A (p.Arg2811His) c.6608G>A (p.Arg2203His) n.119G>A c.6611G>A (p.Arg2204His) n.4874G>A c.7832G>A (p.Arg2611His) c.7211G>A (p.Arg2404His) c.7931G>A (p.Arg2644His) c.8429G>A (p.Arg2810His) c.6026G>A (p.Arg2009His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340485G>A | CA2187552 | COL6A3 | c.1076C>T c.7813C>T (p.Arg2605Cys) c.434C>T n.698C>T c.8431C>T (p.Arg2811Cys) c.6607C>T (p.Arg2203Cys) n.118C>T c.6610C>T (p.Arg2204Cys) n.4873C>T c.7831C>T (p.Arg2611Cys) c.7210C>T (p.Arg2404Cys) c.7930C>T (p.Arg2644Cys) c.8428C>T (p.Arg2810Cys) c.6025C>T (p.Arg2009Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340485G>C | CA351194491 | COL6A3 | c.1076C>G c.7813C>G (p.Arg2605Gly) c.434C>G n.698C>G c.8431C>G (p.Arg2811Gly) c.6607C>G (p.Arg2203Gly) n.118C>G c.6610C>G (p.Arg2204Gly) n.4873C>G c.7831C>G (p.Arg2611Gly) c.7210C>G (p.Arg2404Gly) c.7930C>G (p.Arg2644Gly) c.8428C>G (p.Arg2810Gly) c.6025C>G (p.Arg2009Gly) | |
2 | g.237340485G= | CA1337608453 | COL6A3 | c.1076C= c.7813C= (p.Arg2605=) c.434C= n.698C= c.8431C= (p.Arg2811=) c.6607C= (p.Arg2203=) n.118C= c.6610C= (p.Arg2204=) n.4873C= c.7831C= (p.Arg2611=) c.7210C= (p.Arg2404=) c.7930C= (p.Arg2644=) c.8428C= (p.Arg2810=) c.6025C= (p.Arg2009=) | |
2 | g.237340485G>T | CA351194502 | COL6A3 | c.1076C>A c.7813C>A (p.Arg2605Ser) c.434C>A n.698C>A c.8431C>A (p.Arg2811Ser) c.6607C>A (p.Arg2203Ser) n.118C>A c.6610C>A (p.Arg2204Ser) n.4873C>A c.7831C>A (p.Arg2611Ser) c.7210C>A (p.Arg2404Ser) c.7930C>A (p.Arg2644Ser) c.8428C>A (p.Arg2810Ser) c.6025C>A (p.Arg2009Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237340486C>A | CA351194517 | COL6A3 | c.1075G>T c.7812G>T (p.Met2604Ile) c.433G>T n.697G>T c.8430G>T (p.Met2810Ile) c.6606G>T (p.Met2202Ile) n.117G>T c.6609G>T (p.Met2203Ile) n.4872G>T c.7830G>T (p.Met2610Ile) c.7209G>T (p.Met2403Ile) c.7929G>T (p.Met2643Ile) c.8427G>T (p.Met2809Ile) c.6024G>T (p.Met2008Ile) | |
2 | g.237340486C= | CA1337608457 | COL6A3 | c.1075G= c.7812G= (p.Met2604=) c.433G= n.697G= c.8430G= (p.Met2810=) c.6606G= (p.Met2202=) n.117G= c.6609G= (p.Met2203=) n.4872G= c.7830G= (p.Met2610=) c.7209G= (p.Met2403=) c.7929G= (p.Met2643=) c.8427G= (p.Met2809=) c.6024G= (p.Met2008=) | |
2 | g.237340486C>G | CA351194507 | COL6A3 | c.1075G>C c.7812G>C (p.Met2604Ile) c.433G>C n.697G>C c.8430G>C (p.Met2810Ile) c.6606G>C (p.Met2202Ile) n.117G>C c.6609G>C (p.Met2203Ile) n.4872G>C c.7830G>C (p.Met2610Ile) c.7209G>C (p.Met2403Ile) c.7929G>C (p.Met2643Ile) c.8427G>C (p.Met2809Ile) c.6024G>C (p.Met2008Ile) | |
2 | g.237340486C>T | CA351194509 | COL6A3 | c.1075G>A c.7812G>A (p.Met2604Ile) c.433G>A n.697G>A c.8430G>A (p.Met2810Ile) c.6606G>A (p.Met2202Ile) n.117G>A c.6609G>A (p.Met2203Ile) n.4872G>A c.7830G>A (p.Met2610Ile) c.7209G>A (p.Met2403Ile) c.7929G>A (p.Met2643Ile) c.8427G>A (p.Met2809Ile) c.6024G>A (p.Met2008Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237340486dup | CA2697550601 | COL6A3 | c.1075dup c.7812dup (p.Arg2605AlafsTer13) c.433dup n.697dup c.8430dup (p.Arg2811AlafsTer13) c.6606dup (p.Arg2203AlafsTer13) n.117dup c.6609dup (p.Arg2204AlafsTer13) n.4872dup c.7830dup (p.Arg2611AlafsTer13) c.7209dup (p.Arg2404AlafsTer13) c.7929dup (p.Arg2644AlafsTer13) c.8427dup (p.Arg2810AlafsTer13) c.6024dup (p.Arg2009AlafsTer13) | ClinVar |
2 | g.237340487A>C | CA351194524 | COL6A3 | c.1074T>G c.7811T>G (p.Met2604Arg) c.432T>G n.696T>G c.8429T>G (p.Met2810Arg) c.6605T>G (p.Met2202Arg) n.116T>G c.6608T>G (p.Met2203Arg) n.4871T>G c.7829T>G (p.Met2610Arg) c.7208T>G (p.Met2403Arg) c.7928T>G (p.Met2643Arg) c.8426T>G (p.Met2809Arg) c.6023T>G (p.Met2008Arg) | |
2 | g.237340487A>G | CA351194527 | COL6A3 | c.1074T>C c.7811T>C (p.Met2604Thr) c.432T>C n.696T>C c.8429T>C (p.Met2810Thr) c.6605T>C (p.Met2202Thr) n.116T>C c.6608T>C (p.Met2203Thr) n.4871T>C c.7829T>C (p.Met2610Thr) c.7208T>C (p.Met2403Thr) c.7928T>C (p.Met2643Thr) c.8426T>C (p.Met2809Thr) c.6023T>C (p.Met2008Thr) | |
2 | g.237340487A>T | CA351194528 | COL6A3 | c.1074T>A c.7811T>A (p.Met2604Lys) c.432T>A n.696T>A c.8429T>A (p.Met2810Lys) c.6605T>A (p.Met2202Lys) n.116T>A c.6608T>A (p.Met2203Lys) n.4871T>A c.7829T>A (p.Met2610Lys) c.7208T>A (p.Met2403Lys) c.7928T>A (p.Met2643Lys) c.8426T>A (p.Met2809Lys) c.6023T>A (p.Met2008Lys) | |
2 | g.237340488T>A | CA351194530 | COL6A3 | c.1073A>T c.7810A>T (p.Met2604Leu) c.431A>T n.695A>T c.8428A>T (p.Met2810Leu) c.6604A>T (p.Met2202Leu) n.115A>T c.6607A>T (p.Met2203Leu) n.4870A>T c.7828A>T (p.Met2610Leu) c.7207A>T (p.Met2403Leu) c.7927A>T (p.Met2643Leu) c.8425A>T (p.Met2809Leu) c.6022A>T (p.Met2008Leu) | |
2 | g.237340488T>C | CA351194531 | COL6A3 | c.1073A>G c.7810A>G (p.Met2604Val) c.431A>G n.695A>G c.8428A>G (p.Met2810Val) c.6604A>G (p.Met2202Val) n.115A>G c.6607A>G (p.Met2203Val) n.4870A>G c.7828A>G (p.Met2610Val) c.7207A>G (p.Met2403Val) c.7927A>G (p.Met2643Val) c.8425A>G (p.Met2809Val) c.6022A>G (p.Met2008Val) | |
2 | g.237340488T>G | CA10605676 | COL6A3 | c.1073A>C c.7810A>C (p.Met2604Leu) c.431A>C n.695A>C c.8428A>C (p.Met2810Leu) c.6604A>C (p.Met2202Leu) n.115A>C c.6607A>C (p.Met2203Leu) n.4870A>C c.7828A>C (p.Met2610Leu) c.7207A>C (p.Met2403Leu) c.7927A>C (p.Met2643Leu) c.8425A>C (p.Met2809Leu) c.6022A>C (p.Met2008Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237340488T= | CA1337608461 | COL6A3 | c.1073A= c.7810A= (p.Met2604=) c.431A= n.695A= c.8428A= (p.Met2810=) c.6604A= (p.Met2202=) n.115A= c.6607A= (p.Met2203=) n.4870A= c.7828A= (p.Met2610=) c.7207A= (p.Met2403=) c.7927A= (p.Met2643=) c.8425A= (p.Met2809=) c.6022A= (p.Met2008=) | |
2 | g.237340489C>A | CA351194538 | COL6A3 | c.1072G>T c.7809G>T (p.Leu2603Phe) c.430G>T n.694G>T c.8427G>T (p.Leu2809Phe) c.6603G>T (p.Leu2201Phe) n.114G>T c.6606G>T (p.Leu2202Phe) n.4869G>T c.7827G>T (p.Leu2609Phe) c.7206G>T (p.Leu2402Phe) c.7926G>T (p.Leu2642Phe) c.8424G>T (p.Leu2808Phe) c.6021G>T (p.Leu2007Phe) | |
2 | g.237340489C>G | CA351194540 | COL6A3 | c.1072G>C c.7809G>C (p.Leu2603Phe) c.430G>C n.694G>C c.8427G>C (p.Leu2809Phe) c.6603G>C (p.Leu2201Phe) n.114G>C c.6606G>C (p.Leu2202Phe) n.4869G>C c.7827G>C (p.Leu2609Phe) c.7206G>C (p.Leu2402Phe) c.7926G>C (p.Leu2642Phe) c.8424G>C (p.Leu2808Phe) c.6021G>C (p.Leu2007Phe) | gnomAD v4 |
2 | g.237340489C>T | CA431675107 | COL6A3 | c.1072G>A c.7809G>A (p.Leu2603=) c.430G>A n.694G>A c.8427G>A (p.Leu2809=) c.6603G>A (p.Leu2201=) n.114G>A c.6606G>A (p.Leu2202=) n.4869G>A c.7827G>A (p.Leu2609=) c.7206G>A (p.Leu2402=) c.7926G>A (p.Leu2642=) c.8424G>A (p.Leu2808=) c.6021G>A (p.Leu2007=) | |
2 | g.237340490A>C | CA351194544 | COL6A3 | c.1071T>G c.7808T>G (p.Leu2603Trp) c.429T>G n.693T>G c.8426T>G (p.Leu2809Trp) c.6602T>G (p.Leu2201Trp) n.113T>G c.6605T>G (p.Leu2202Trp) n.4868T>G c.7826T>G (p.Leu2609Trp) c.7205T>G (p.Leu2402Trp) c.7925T>G (p.Leu2642Trp) c.8423T>G (p.Leu2808Trp) c.6020T>G (p.Leu2007Trp) | |
2 | g.237340490A>G | CA351194547 | COL6A3 | c.1071T>C c.7808T>C (p.Leu2603Ser) c.429T>C n.693T>C c.8426T>C (p.Leu2809Ser) c.6602T>C (p.Leu2201Ser) n.113T>C c.6605T>C (p.Leu2202Ser) n.4868T>C c.7826T>C (p.Leu2609Ser) c.7205T>C (p.Leu2402Ser) c.7925T>C (p.Leu2642Ser) c.8423T>C (p.Leu2808Ser) c.6020T>C (p.Leu2007Ser) | |
2 | g.237340490A>T | CA351194549 | COL6A3 | c.1071T>A c.7808T>A (p.Leu2603Ter) c.429T>A n.693T>A c.8426T>A (p.Leu2809Ter) c.6602T>A (p.Leu2201Ter) n.113T>A c.6605T>A (p.Leu2202Ter) n.4868T>A c.7826T>A (p.Leu2609Ter) c.7205T>A (p.Leu2402Ter) c.7925T>A (p.Leu2642Ter) c.8423T>A (p.Leu2808Ter) c.6020T>A (p.Leu2007Ter) | |
2 | g.237340491A= | CA1337608464 | COL6A3 | c.1070T= c.7807T= (p.Leu2603=) c.428T= n.692T= c.8425T= (p.Leu2809=) c.6601T= (p.Leu2201=) n.112T= c.6604T= (p.Leu2202=) n.4867T= c.7825T= (p.Leu2609=) c.7204T= (p.Leu2402=) c.7924T= (p.Leu2642=) c.8422T= (p.Leu2808=) c.6019T= (p.Leu2007=) | |
2 | g.237340491A>C | CA351194552 | COL6A3 | c.1070T>G c.7807T>G (p.Leu2603Val) c.428T>G n.692T>G c.8425T>G (p.Leu2809Val) c.6601T>G (p.Leu2201Val) n.112T>G c.6604T>G (p.Leu2202Val) n.4867T>G c.7825T>G (p.Leu2609Val) c.7204T>G (p.Leu2402Val) c.7924T>G (p.Leu2642Val) c.8422T>G (p.Leu2808Val) c.6019T>G (p.Leu2007Val) | |
2 | g.237340491A>G | CA431675108 | COL6A3 | c.1070T>C c.7807T>C (p.Leu2603=) c.428T>C n.692T>C c.8425T>C (p.Leu2809=) c.6601T>C (p.Leu2201=) n.112T>C c.6604T>C (p.Leu2202=) n.4867T>C c.7825T>C (p.Leu2609=) c.7204T>C (p.Leu2402=) c.7924T>C (p.Leu2642=) c.8422T>C (p.Leu2808=) c.6019T>C (p.Leu2007=) | |
2 | g.237340491A>T | CA2187553 | COL6A3 | c.1070T>A c.7807T>A (p.Leu2603Met) c.428T>A n.692T>A c.8425T>A (p.Leu2809Met) c.6601T>A (p.Leu2201Met) n.112T>A c.6604T>A (p.Leu2202Met) n.4867T>A c.7825T>A (p.Leu2609Met) c.7204T>A (p.Leu2402Met) c.7924T>A (p.Leu2642Met) c.8422T>A (p.Leu2808Met) c.6019T>A (p.Leu2007Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340492A>C | CA431675109 | COL6A3 | c.1069T>G c.7806T>G (p.Pro2602=) c.427T>G n.691T>G c.8424T>G (p.Pro2808=) c.6600T>G (p.Pro2200=) n.111T>G c.6603T>G (p.Pro2201=) n.4866T>G c.7824T>G (p.Pro2608=) c.7203T>G (p.Pro2401=) c.7923T>G (p.Pro2641=) c.8421T>G (p.Pro2807=) c.6018T>G (p.Pro2006=) | |
2 | g.237340492A>G | CA431675110 | COL6A3 | c.1069T>C c.7806T>C (p.Pro2602=) c.427T>C n.691T>C c.8424T>C (p.Pro2808=) c.6600T>C (p.Pro2200=) n.111T>C c.6603T>C (p.Pro2201=) n.4866T>C c.7824T>C (p.Pro2608=) c.7203T>C (p.Pro2401=) c.7923T>C (p.Pro2641=) c.8421T>C (p.Pro2807=) c.6018T>C (p.Pro2006=) | |
2 | g.237340492A>T | CA431675111 | COL6A3 | c.1069T>A c.7806T>A (p.Pro2602=) c.427T>A n.691T>A c.8424T>A (p.Pro2808=) c.6600T>A (p.Pro2200=) n.111T>A c.6603T>A (p.Pro2201=) n.4866T>A c.7824T>A (p.Pro2608=) c.7203T>A (p.Pro2401=) c.7923T>A (p.Pro2641=) c.8421T>A (p.Pro2807=) c.6018T>A (p.Pro2006=) | |
2 | g.237340493G>A | CA351194562 | COL6A3 | c.1068C>T c.7805C>T (p.Pro2602Leu) c.426C>T n.690C>T c.8423C>T (p.Pro2808Leu) c.6599C>T (p.Pro2200Leu) n.110C>T c.6602C>T (p.Pro2201Leu) n.4865C>T c.7823C>T (p.Pro2608Leu) c.7202C>T (p.Pro2401Leu) c.7922C>T (p.Pro2641Leu) c.8420C>T (p.Pro2807Leu) c.6017C>T (p.Pro2006Leu) | |
2 | g.237340493G>C | CA351194567 | COL6A3 | c.1068C>G c.7805C>G (p.Pro2602Arg) c.426C>G n.690C>G c.8423C>G (p.Pro2808Arg) c.6599C>G (p.Pro2200Arg) n.110C>G c.6602C>G (p.Pro2201Arg) n.4865C>G c.7823C>G (p.Pro2608Arg) c.7202C>G (p.Pro2401Arg) c.7922C>G (p.Pro2641Arg) c.8420C>G (p.Pro2807Arg) c.6017C>G (p.Pro2006Arg) | |
2 | g.237340493G>T | CA351194570 | COL6A3 | c.1068C>A c.7805C>A (p.Pro2602His) c.426C>A n.690C>A c.8423C>A (p.Pro2808His) c.6599C>A (p.Pro2200His) n.110C>A c.6602C>A (p.Pro2201His) n.4865C>A c.7823C>A (p.Pro2608His) c.7202C>A (p.Pro2401His) c.7922C>A (p.Pro2641His) c.8420C>A (p.Pro2807His) c.6017C>A (p.Pro2006His) | |
2 | g.237340494G>A | CA351194575 | COL6A3 | c.1067C>T c.7804C>T (p.Pro2602Ser) c.425C>T n.689C>T c.8422C>T (p.Pro2808Ser) c.6598C>T (p.Pro2200Ser) n.109C>T c.6601C>T (p.Pro2201Ser) n.4864C>T c.7822C>T (p.Pro2608Ser) c.7201C>T (p.Pro2401Ser) c.7921C>T (p.Pro2641Ser) c.8419C>T (p.Pro2807Ser) c.6016C>T (p.Pro2006Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340494G>C | CA351194578 | COL6A3 | c.1067C>G c.7804C>G (p.Pro2602Ala) c.425C>G n.689C>G c.8422C>G (p.Pro2808Ala) c.6598C>G (p.Pro2200Ala) n.109C>G c.6601C>G (p.Pro2201Ala) n.4864C>G c.7822C>G (p.Pro2608Ala) c.7201C>G (p.Pro2401Ala) c.7921C>G (p.Pro2641Ala) c.8419C>G (p.Pro2807Ala) c.6016C>G (p.Pro2006Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237340494G= | CA1337608468 | COL6A3 | c.1067C= c.7804C= (p.Pro2602=) c.425C= n.689C= c.8422C= (p.Pro2808=) c.6598C= (p.Pro2200=) n.109C= c.6601C= (p.Pro2201=) n.4864C= c.7822C= (p.Pro2608=) c.7201C= (p.Pro2401=) c.7921C= (p.Pro2641=) c.8419C= (p.Pro2807=) c.6016C= (p.Pro2006=) | |
2 | g.237340494G>T | CA351194584 | COL6A3 | c.1067C>A c.7804C>A (p.Pro2602Thr) c.425C>A n.689C>A c.8422C>A (p.Pro2808Thr) c.6598C>A (p.Pro2200Thr) n.109C>A c.6601C>A (p.Pro2201Thr) n.4864C>A c.7822C>A (p.Pro2608Thr) c.7201C>A (p.Pro2401Thr) c.7921C>A (p.Pro2641Thr) c.8419C>A (p.Pro2807Thr) c.6016C>A (p.Pro2006Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237340495C>A | CA351194589 | COL6A3 | c.1066G>T c.7803G>T (p.Glu2601Asp) c.424G>T n.688G>T c.8421G>T (p.Glu2807Asp) c.6597G>T (p.Glu2199Asp) n.108G>T c.6600G>T (p.Glu2200Asp) n.4863G>T c.7821G>T (p.Glu2607Asp) c.7200G>T (p.Glu2400Asp) c.7920G>T (p.Glu2640Asp) c.8418G>T (p.Glu2806Asp) c.6015G>T (p.Glu2005Asp) | |
2 | g.237340495C= | CA1337608474 | COL6A3 | c.1066G= c.7803G= (p.Glu2601=) c.424G= n.688G= c.8421G= (p.Glu2807=) c.6597G= (p.Glu2199=) n.108G= c.6600G= (p.Glu2200=) n.4863G= c.7821G= (p.Glu2607=) c.7200G= (p.Glu2400=) c.7920G= (p.Glu2640=) c.8418G= (p.Glu2806=) c.6015G= (p.Glu2005=) | |
2 | g.237340495C>G | CA351194591 | COL6A3 | c.1066G>C c.7803G>C (p.Glu2601Asp) c.424G>C n.688G>C c.8421G>C (p.Glu2807Asp) c.6597G>C (p.Glu2199Asp) n.108G>C c.6600G>C (p.Glu2200Asp) n.4863G>C c.7821G>C (p.Glu2607Asp) c.7200G>C (p.Glu2400Asp) c.7920G>C (p.Glu2640Asp) c.8418G>C (p.Glu2806Asp) c.6015G>C (p.Glu2005Asp) | |
2 | g.237340495C>T | CA2187554 | COL6A3 | c.1066G>A c.7803G>A (p.Glu2601=) c.424G>A n.688G>A c.8421G>A (p.Glu2807=) c.6597G>A (p.Glu2199=) n.108G>A c.6600G>A (p.Glu2200=) n.4863G>A c.7821G>A (p.Glu2607=) c.7200G>A (p.Glu2400=) c.7920G>A (p.Glu2640=) c.8418G>A (p.Glu2806=) c.6015G>A (p.Glu2005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340496T>A | CA351194600 | COL6A3 | c.1065A>T c.7802A>T (p.Glu2601Val) c.423A>T n.687A>T c.8420A>T (p.Glu2807Val) c.6596A>T (p.Glu2199Val) n.107A>T c.6599A>T (p.Glu2200Val) n.4862A>T c.7820A>T (p.Glu2607Val) c.7199A>T (p.Glu2400Val) c.7919A>T (p.Glu2640Val) c.8417A>T (p.Glu2806Val) c.6014A>T (p.Glu2005Val) | |
2 | g.237340496T>C | CA351194603 | COL6A3 | c.1065A>G c.7802A>G (p.Glu2601Gly) c.423A>G n.687A>G c.8420A>G (p.Glu2807Gly) c.6596A>G (p.Glu2199Gly) n.107A>G c.6599A>G (p.Glu2200Gly) n.4862A>G c.7820A>G (p.Glu2607Gly) c.7199A>G (p.Glu2400Gly) c.7919A>G (p.Glu2640Gly) c.8417A>G (p.Glu2806Gly) c.6014A>G (p.Glu2005Gly) | |
2 | g.237340496T>G | CA351194606 | COL6A3 | c.1065A>C c.7802A>C (p.Glu2601Ala) c.423A>C n.687A>C c.8420A>C (p.Glu2807Ala) c.6596A>C (p.Glu2199Ala) n.107A>C c.6599A>C (p.Glu2200Ala) n.4862A>C c.7820A>C (p.Glu2607Ala) c.7199A>C (p.Glu2400Ala) c.7919A>C (p.Glu2640Ala) c.8417A>C (p.Glu2806Ala) c.6014A>C (p.Glu2005Ala) | |
2 | g.237340497C>A | CA351194617 | COL6A3 | c.1064G>T c.7801G>T (p.Glu2601Ter) c.422G>T n.686G>T c.8419G>T (p.Glu2807Ter) c.6595G>T (p.Glu2199Ter) n.106G>T c.6598G>T (p.Glu2200Ter) n.4861G>T c.7819G>T (p.Glu2607Ter) c.7198G>T (p.Glu2400Ter) c.7918G>T (p.Glu2640Ter) c.8416G>T (p.Glu2806Ter) c.6013G>T (p.Glu2005Ter) | |
2 | g.237340497C>G | CA351194614 | COL6A3 | c.1064G>C c.7801G>C (p.Glu2601Gln) c.422G>C n.686G>C c.8419G>C (p.Glu2807Gln) c.6595G>C (p.Glu2199Gln) n.106G>C c.6598G>C (p.Glu2200Gln) n.4861G>C c.7819G>C (p.Glu2607Gln) c.7198G>C (p.Glu2400Gln) c.7918G>C (p.Glu2640Gln) c.8416G>C (p.Glu2806Gln) c.6013G>C (p.Glu2005Gln) | |
2 | g.237340497C>T | CA351194616 | COL6A3 | c.1064G>A c.7801G>A (p.Glu2601Lys) c.422G>A n.686G>A c.8419G>A (p.Glu2807Lys) c.6595G>A (p.Glu2199Lys) n.106G>A c.6598G>A (p.Glu2200Lys) n.4861G>A c.7819G>A (p.Glu2607Lys) c.7198G>A (p.Glu2400Lys) c.7918G>A (p.Glu2640Lys) c.8416G>A (p.Glu2806Lys) c.6013G>A (p.Glu2005Lys) | COSMIC |
2 | g.237340498C>A | CA351194618 | COL6A3 | c.1063G>T c.7800G>T (p.Glu2600Asp) c.421G>T n.685G>T c.8418G>T (p.Glu2806Asp) c.6594G>T (p.Glu2198Asp) n.105G>T c.6597G>T (p.Glu2199Asp) n.4860G>T c.7818G>T (p.Glu2606Asp) c.7197G>T (p.Glu2399Asp) c.7917G>T (p.Glu2639Asp) c.8415G>T (p.Glu2805Asp) c.6012G>T (p.Glu2004Asp) | |
2 | g.237340498C>G | CA351194619 | COL6A3 | c.1063G>C c.7800G>C (p.Glu2600Asp) c.421G>C n.685G>C c.8418G>C (p.Glu2806Asp) c.6594G>C (p.Glu2198Asp) n.105G>C c.6597G>C (p.Glu2199Asp) n.4860G>C c.7818G>C (p.Glu2606Asp) c.7197G>C (p.Glu2399Asp) c.7917G>C (p.Glu2639Asp) c.8415G>C (p.Glu2805Asp) c.6012G>C (p.Glu2004Asp) | |
2 | g.237340498C>T | CA431675112 | COL6A3 | c.1063G>A c.7800G>A (p.Glu2600=) c.421G>A n.685G>A c.8418G>A (p.Glu2806=) c.6594G>A (p.Glu2198=) n.105G>A c.6597G>A (p.Glu2199=) n.4860G>A c.7818G>A (p.Glu2606=) c.7197G>A (p.Glu2399=) c.7917G>A (p.Glu2639=) c.8415G>A (p.Glu2805=) c.6012G>A (p.Glu2004=) | |
2 | g.237340499T>A | CA351194620 | COL6A3 | c.1062A>T c.7799A>T (p.Glu2600Val) c.420A>T n.684A>T c.8417A>T (p.Glu2806Val) c.6593A>T (p.Glu2198Val) n.104A>T c.6596A>T (p.Glu2199Val) n.4859A>T c.7817A>T (p.Glu2606Val) c.7196A>T (p.Glu2399Val) c.7916A>T (p.Glu2639Val) c.8414A>T (p.Glu2805Val) c.6011A>T (p.Glu2004Val) | |
2 | g.237340499T>C | CA351194622 | COL6A3 | c.1062A>G c.7799A>G (p.Glu2600Gly) c.420A>G n.684A>G c.8417A>G (p.Glu2806Gly) c.6593A>G (p.Glu2198Gly) n.104A>G c.6596A>G (p.Glu2199Gly) n.4859A>G c.7817A>G (p.Glu2606Gly) c.7196A>G (p.Glu2399Gly) c.7916A>G (p.Glu2639Gly) c.8414A>G (p.Glu2805Gly) c.6011A>G (p.Glu2004Gly) | |
2 | g.237340499T>G | CA351194623 | COL6A3 | c.1062A>C c.7799A>C (p.Glu2600Ala) c.420A>C n.684A>C c.8417A>C (p.Glu2806Ala) c.6593A>C (p.Glu2198Ala) n.104A>C c.6596A>C (p.Glu2199Ala) n.4859A>C c.7817A>C (p.Glu2606Ala) c.7196A>C (p.Glu2399Ala) c.7916A>C (p.Glu2639Ala) c.8414A>C (p.Glu2805Ala) c.6011A>C (p.Glu2004Ala) | |
2 | g.237340500C>A | CA351194625 | COL6A3 | c.1061G>T c.7798G>T (p.Glu2600Ter) c.419G>T n.683G>T c.8416G>T (p.Glu2806Ter) c.6592G>T (p.Glu2198Ter) n.103G>T c.6595G>T (p.Glu2199Ter) n.4858G>T c.7816G>T (p.Glu2606Ter) c.7195G>T (p.Glu2399Ter) c.7915G>T (p.Glu2639Ter) c.8413G>T (p.Glu2805Ter) c.6010G>T (p.Glu2004Ter) | |
2 | g.237340500C= | CA1337608478 | COL6A3 | c.1061G= c.7798G= (p.Glu2600=) c.419G= n.683G= c.8416G= (p.Glu2806=) c.6592G= (p.Glu2198=) n.103G= c.6595G= (p.Glu2199=) n.4858G= c.7816G= (p.Glu2606=) c.7195G= (p.Glu2399=) c.7915G= (p.Glu2639=) c.8413G= (p.Glu2805=) c.6010G= (p.Glu2004=) | |
2 | g.237340500C>G | CA351194627 | COL6A3 | c.1061G>C c.7798G>C (p.Glu2600Gln) c.419G>C n.683G>C c.8416G>C (p.Glu2806Gln) c.6592G>C (p.Glu2198Gln) n.103G>C c.6595G>C (p.Glu2199Gln) n.4858G>C c.7816G>C (p.Glu2606Gln) c.7195G>C (p.Glu2399Gln) c.7915G>C (p.Glu2639Gln) c.8413G>C (p.Glu2805Gln) c.6010G>C (p.Glu2004Gln) | |
2 | g.237340500C>T | CA2187555 | COL6A3 | c.1061G>A c.7798G>A (p.Glu2600Lys) c.419G>A n.683G>A c.8416G>A (p.Glu2806Lys) c.6592G>A (p.Glu2198Lys) n.103G>A c.6595G>A (p.Glu2199Lys) n.4858G>A c.7816G>A (p.Glu2606Lys) c.7195G>A (p.Glu2399Lys) c.7915G>A (p.Glu2639Lys) c.8413G>A (p.Glu2805Lys) c.6010G>A (p.Glu2004Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340501G>A | CA244928 | COL6A3 | c.1060C>T c.7797C>T (p.Asn2599=) c.418C>T n.682C>T c.8415C>T (p.Asn2805=) c.6591C>T (p.Asn2197=) n.102C>T c.6594C>T (p.Asn2198=) n.4857C>T c.7815C>T (p.Asn2605=) c.7194C>T (p.Asn2398=) c.7914C>T (p.Asn2638=) c.8412C>T (p.Asn2804=) c.6009C>T (p.Asn2003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340501G>C | CA351194630 | COL6A3 | c.1060C>G c.7797C>G (p.Asn2599Lys) c.418C>G n.682C>G c.8415C>G (p.Asn2805Lys) c.6591C>G (p.Asn2197Lys) n.102C>G c.6594C>G (p.Asn2198Lys) n.4857C>G c.7815C>G (p.Asn2605Lys) c.7194C>G (p.Asn2398Lys) c.7914C>G (p.Asn2638Lys) c.8412C>G (p.Asn2804Lys) c.6009C>G (p.Asn2003Lys) | |
2 | g.237340501G= | CA1337608483 | COL6A3 | c.1060C= c.7797C= (p.Asn2599=) c.418C= n.682C= c.8415C= (p.Asn2805=) c.6591C= (p.Asn2197=) n.102C= c.6594C= (p.Asn2198=) n.4857C= c.7815C= (p.Asn2605=) c.7194C= (p.Asn2398=) c.7914C= (p.Asn2638=) c.8412C= (p.Asn2804=) c.6009C= (p.Asn2003=) | |
2 | g.237340501G>T | CA351194638 | COL6A3 | c.1060C>A c.7797C>A (p.Asn2599Lys) c.418C>A n.682C>A c.8415C>A (p.Asn2805Lys) c.6591C>A (p.Asn2197Lys) n.102C>A c.6594C>A (p.Asn2198Lys) n.4857C>A c.7815C>A (p.Asn2605Lys) c.7194C>A (p.Asn2398Lys) c.7914C>A (p.Asn2638Lys) c.8412C>A (p.Asn2804Lys) c.6009C>A (p.Asn2003Lys) | |
2 | g.237340502T>A | CA351194651 | COL6A3 | c.1059A>T c.7796A>T (p.Asn2599Ile) c.417A>T n.681A>T c.8414A>T (p.Asn2805Ile) c.6590A>T (p.Asn2197Ile) n.101A>T c.6593A>T (p.Asn2198Ile) n.4856A>T c.7814A>T (p.Asn2605Ile) c.7193A>T (p.Asn2398Ile) c.7913A>T (p.Asn2638Ile) c.8411A>T (p.Asn2804Ile) c.6008A>T (p.Asn2003Ile) | gnomAD v4 |
2 | g.237340502T>C | CA2187556 | COL6A3 | c.1059A>G c.7796A>G (p.Asn2599Ser) c.417A>G n.681A>G c.8414A>G (p.Asn2805Ser) c.6590A>G (p.Asn2197Ser) n.101A>G c.6593A>G (p.Asn2198Ser) n.4856A>G c.7814A>G (p.Asn2605Ser) c.7193A>G (p.Asn2398Ser) c.7913A>G (p.Asn2638Ser) c.8411A>G (p.Asn2804Ser) c.6008A>G (p.Asn2003Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340502T>G | CA67835500 | COL6A3 | c.1059A>C c.7796A>C (p.Asn2599Thr) c.417A>C n.681A>C c.8414A>C (p.Asn2805Thr) c.6590A>C (p.Asn2197Thr) n.101A>C c.6593A>C (p.Asn2198Thr) n.4856A>C c.7814A>C (p.Asn2605Thr) c.7193A>C (p.Asn2398Thr) c.7913A>C (p.Asn2638Thr) c.8411A>C (p.Asn2804Thr) c.6008A>C (p.Asn2003Thr) | dbSNP |
2 | g.237340502T= | CA1337608487 | COL6A3 | c.1059A= c.7796A= (p.Asn2599=) c.417A= n.681A= c.8414A= (p.Asn2805=) c.6590A= (p.Asn2197=) n.101A= c.6593A= (p.Asn2198=) n.4856A= c.7814A= (p.Asn2605=) c.7193A= (p.Asn2398=) c.7913A= (p.Asn2638=) c.8411A= (p.Asn2804=) c.6008A= (p.Asn2003=) | |
2 | g.237340503T>A | CA351194655 | COL6A3 | c.1058A>T c.7795A>T (p.Asn2599Tyr) c.416A>T n.680A>T c.8413A>T (p.Asn2805Tyr) c.6589A>T (p.Asn2197Tyr) n.100A>T c.6592A>T (p.Asn2198Tyr) n.4855A>T c.7813A>T (p.Asn2605Tyr) c.7192A>T (p.Asn2398Tyr) c.7912A>T (p.Asn2638Tyr) c.8410A>T (p.Asn2804Tyr) c.6007A>T (p.Asn2003Tyr) | |
2 | g.237340503T>C | CA2187557 | COL6A3 | c.1058A>G c.7795A>G (p.Asn2599Asp) c.416A>G n.680A>G c.8413A>G (p.Asn2805Asp) c.6589A>G (p.Asn2197Asp) n.100A>G c.6592A>G (p.Asn2198Asp) n.4855A>G c.7813A>G (p.Asn2605Asp) c.7192A>G (p.Asn2398Asp) c.7912A>G (p.Asn2638Asp) c.8410A>G (p.Asn2804Asp) c.6007A>G (p.Asn2003Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340503T>G | CA351194659 | COL6A3 | c.1058A>C c.7795A>C (p.Asn2599His) c.416A>C n.680A>C c.8413A>C (p.Asn2805His) c.6589A>C (p.Asn2197His) n.100A>C c.6592A>C (p.Asn2198His) n.4855A>C c.7813A>C (p.Asn2605His) c.7192A>C (p.Asn2398His) c.7912A>C (p.Asn2638His) c.8410A>C (p.Asn2804His) c.6007A>C (p.Asn2003His) | |
2 | g.237340503T= | CA1337608490 | COL6A3 | c.1058A= c.7795A= (p.Asn2599=) c.416A= n.680A= c.8413A= (p.Asn2805=) c.6589A= (p.Asn2197=) n.100A= c.6592A= (p.Asn2198=) n.4855A= c.7813A= (p.Asn2605=) c.7192A= (p.Asn2398=) c.7912A= (p.Asn2638=) c.8410A= (p.Asn2804=) c.6007A= (p.Asn2003=) | |
2 | g.237340504G>A | CA431675113 | COL6A3 | c.1057C>T c.7794C>T (p.Leu2598=) c.415C>T n.679C>T c.8412C>T (p.Leu2804=) c.6588C>T (p.Leu2196=) n.99C>T c.6591C>T (p.Leu2197=) n.4854C>T c.7812C>T (p.Leu2604=) c.7191C>T (p.Leu2397=) c.7911C>T (p.Leu2637=) c.8409C>T (p.Leu2803=) c.6006C>T (p.Leu2002=) | |
2 | g.237340504G>C | CA431675114 | COL6A3 | c.1057C>G c.7794C>G (p.Leu2598=) c.415C>G n.679C>G c.8412C>G (p.Leu2804=) c.6588C>G (p.Leu2196=) n.99C>G c.6591C>G (p.Leu2197=) n.4854C>G c.7812C>G (p.Leu2604=) c.7191C>G (p.Leu2397=) c.7911C>G (p.Leu2637=) c.8409C>G (p.Leu2803=) c.6006C>G (p.Leu2002=) | |
2 | g.237340504G>T | CA431675115 | COL6A3 | c.1057C>A c.7794C>A (p.Leu2598=) c.415C>A n.679C>A c.8412C>A (p.Leu2804=) c.6588C>A (p.Leu2196=) n.99C>A c.6591C>A (p.Leu2197=) n.4854C>A c.7812C>A (p.Leu2604=) c.7191C>A (p.Leu2397=) c.7911C>A (p.Leu2637=) c.8409C>A (p.Leu2803=) c.6006C>A (p.Leu2002=) | |
2 | g.237340505A= | CA1337608495 | COL6A3 | c.1056T= c.7793T= (p.Leu2598=) c.414T= n.678T= c.8411T= (p.Leu2804=) c.6587T= (p.Leu2196=) n.98T= c.6590T= (p.Leu2197=) n.4853T= c.7811T= (p.Leu2604=) c.7190T= (p.Leu2397=) c.7910T= (p.Leu2637=) c.8408T= (p.Leu2803=) c.6005T= (p.Leu2002=) | |
2 | g.237340505A>C | CA351194664 | COL6A3 | c.1056T>G c.7793T>G (p.Leu2598Arg) c.414T>G n.678T>G c.8411T>G (p.Leu2804Arg) c.6587T>G (p.Leu2196Arg) n.98T>G c.6590T>G (p.Leu2197Arg) n.4853T>G c.7811T>G (p.Leu2604Arg) c.7190T>G (p.Leu2397Arg) c.7910T>G (p.Leu2637Arg) c.8408T>G (p.Leu2803Arg) c.6005T>G (p.Leu2002Arg) | |
2 | g.237340505A>G | CA351194666 | COL6A3 | c.1056T>C c.7793T>C (p.Leu2598Pro) c.414T>C n.678T>C c.8411T>C (p.Leu2804Pro) c.6587T>C (p.Leu2196Pro) n.98T>C c.6590T>C (p.Leu2197Pro) n.4853T>C c.7811T>C (p.Leu2604Pro) c.7190T>C (p.Leu2397Pro) c.7910T>C (p.Leu2637Pro) c.8408T>C (p.Leu2803Pro) c.6005T>C (p.Leu2002Pro) | ClinVar dbSNP |
2 | g.237340505A>T | CA351194667 | COL6A3 | c.1056T>A c.7793T>A (p.Leu2598His) c.414T>A n.678T>A c.8411T>A (p.Leu2804His) c.6587T>A (p.Leu2196His) n.98T>A c.6590T>A (p.Leu2197His) n.4853T>A c.7811T>A (p.Leu2604His) c.7190T>A (p.Leu2397His) c.7910T>A (p.Leu2637His) c.8408T>A (p.Leu2803His) c.6005T>A (p.Leu2002His) | |
2 | g.237340506G>A | CA351194672 | COL6A3 | c.1055C>T c.7792C>T (p.Leu2598Phe) c.413C>T n.677C>T c.8410C>T (p.Leu2804Phe) c.6586C>T (p.Leu2196Phe) n.97C>T c.6589C>T (p.Leu2197Phe) n.4852C>T c.7810C>T (p.Leu2604Phe) c.7189C>T (p.Leu2397Phe) c.7909C>T (p.Leu2637Phe) c.8407C>T (p.Leu2803Phe) c.6004C>T (p.Leu2002Phe) | |
2 | g.237340506G>C | CA351194670 | COL6A3 | c.1055C>G c.7792C>G (p.Leu2598Val) c.413C>G n.677C>G c.8410C>G (p.Leu2804Val) c.6586C>G (p.Leu2196Val) n.97C>G c.6589C>G (p.Leu2197Val) n.4852C>G c.7810C>G (p.Leu2604Val) c.7189C>G (p.Leu2397Val) c.7909C>G (p.Leu2637Val) c.8407C>G (p.Leu2803Val) c.6004C>G (p.Leu2002Val) | |
2 | g.237340506G>T | CA351194671 | COL6A3 | c.1055C>A c.7792C>A (p.Leu2598Ile) c.413C>A n.677C>A c.8410C>A (p.Leu2804Ile) c.6586C>A (p.Leu2196Ile) n.97C>A c.6589C>A (p.Leu2197Ile) n.4852C>A c.7810C>A (p.Leu2604Ile) c.7189C>A (p.Leu2397Ile) c.7909C>A (p.Leu2637Ile) c.8407C>A (p.Leu2803Ile) c.6004C>A (p.Leu2002Ile) | |
2 | g.237340507C>A | CA351194673 | COL6A3 | c.1054G>T c.7791G>T (p.Glu2597Asp) c.412G>T n.676G>T c.8409G>T (p.Glu2803Asp) c.6585G>T (p.Glu2195Asp) n.96G>T c.6588G>T (p.Glu2196Asp) n.4851G>T c.7809G>T (p.Glu2603Asp) c.7188G>T (p.Glu2396Asp) c.7908G>T (p.Glu2636Asp) c.8406G>T (p.Glu2802Asp) c.6003G>T (p.Glu2001Asp) | |
2 | g.237340507C>G | CA351194675 | COL6A3 | c.1054G>C c.7791G>C (p.Glu2597Asp) c.412G>C n.676G>C c.8409G>C (p.Glu2803Asp) c.6585G>C (p.Glu2195Asp) n.96G>C c.6588G>C (p.Glu2196Asp) n.4851G>C c.7809G>C (p.Glu2603Asp) c.7188G>C (p.Glu2396Asp) c.7908G>C (p.Glu2636Asp) c.8406G>C (p.Glu2802Asp) c.6003G>C (p.Glu2001Asp) | gnomAD v4 |
2 | g.237340507C>T | CA431675116 | COL6A3 | c.1054G>A c.7791G>A (p.Glu2597=) c.412G>A n.676G>A c.8409G>A (p.Glu2803=) c.6585G>A (p.Glu2195=) n.96G>A c.6588G>A (p.Glu2196=) n.4851G>A c.7809G>A (p.Glu2603=) c.7188G>A (p.Glu2396=) c.7908G>A (p.Glu2636=) c.8406G>A (p.Glu2802=) c.6003G>A (p.Glu2001=) | |
2 | g.237340508T>A | CA351194677 | COL6A3 | c.1053A>T c.7790A>T (p.Glu2597Val) c.411A>T n.675A>T c.8408A>T (p.Glu2803Val) c.6584A>T (p.Glu2195Val) n.95A>T c.6587A>T (p.Glu2196Val) n.4850A>T c.7808A>T (p.Glu2603Val) c.7187A>T (p.Glu2396Val) c.7907A>T (p.Glu2636Val) c.8405A>T (p.Glu2802Val) c.6002A>T (p.Glu2001Val) | |
2 | g.237340508T>C | CA351194680 | COL6A3 | c.1053A>G c.7790A>G (p.Glu2597Gly) c.411A>G n.675A>G c.8408A>G (p.Glu2803Gly) c.6584A>G (p.Glu2195Gly) n.95A>G c.6587A>G (p.Glu2196Gly) n.4850A>G c.7808A>G (p.Glu2603Gly) c.7187A>G (p.Glu2396Gly) c.7907A>G (p.Glu2636Gly) c.8405A>G (p.Glu2802Gly) c.6002A>G (p.Glu2001Gly) | |
2 | g.237340508T>G | CA351194682 | COL6A3 | c.1053A>C c.7790A>C (p.Glu2597Ala) c.411A>C n.675A>C c.8408A>C (p.Glu2803Ala) c.6584A>C (p.Glu2195Ala) n.95A>C c.6587A>C (p.Glu2196Ala) n.4850A>C c.7808A>C (p.Glu2603Ala) c.7187A>C (p.Glu2396Ala) c.7907A>C (p.Glu2636Ala) c.8405A>C (p.Glu2802Ala) c.6002A>C (p.Glu2001Ala) | |
2 | g.237340509C>A | CA351194695 | COL6A3 | c.1052G>T c.7789G>T (p.Glu2597Ter) c.410G>T n.674G>T c.8407G>T (p.Glu2803Ter) c.6583G>T (p.Glu2195Ter) n.94G>T c.6586G>T (p.Glu2196Ter) n.4849G>T c.7807G>T (p.Glu2603Ter) c.7186G>T (p.Glu2396Ter) c.7906G>T (p.Glu2636Ter) c.8404G>T (p.Glu2802Ter) c.6001G>T (p.Glu2001Ter) | |
2 | g.237340509C= | CA1337608499 | COL6A3 | c.1052G= c.7789G= (p.Glu2597=) c.410G= n.674G= c.8407G= (p.Glu2803=) c.6583G= (p.Glu2195=) n.94G= c.6586G= (p.Glu2196=) n.4849G= c.7807G= (p.Glu2603=) c.7186G= (p.Glu2396=) c.7906G= (p.Glu2636=) c.8404G= (p.Glu2802=) c.6001G= (p.Glu2001=) | |
2 | g.237340509C>G | CA351194687 | COL6A3 | c.1052G>C c.7789G>C (p.Glu2597Gln) c.410G>C n.674G>C c.8407G>C (p.Glu2803Gln) c.6583G>C (p.Glu2195Gln) n.94G>C c.6586G>C (p.Glu2196Gln) n.4849G>C c.7807G>C (p.Glu2603Gln) c.7186G>C (p.Glu2396Gln) c.7906G>C (p.Glu2636Gln) c.8404G>C (p.Glu2802Gln) c.6001G>C (p.Glu2001Gln) | |
2 | g.237340509C>T | CA2187558 | COL6A3 | c.1052G>A c.7789G>A (p.Glu2597Lys) c.410G>A n.674G>A c.8407G>A (p.Glu2803Lys) c.6583G>A (p.Glu2195Lys) n.94G>A c.6586G>A (p.Glu2196Lys) n.4849G>A c.7807G>A (p.Glu2603Lys) c.7186G>A (p.Glu2396Lys) c.7906G>A (p.Glu2636Lys) c.8404G>A (p.Glu2802Lys) c.6001G>A (p.Glu2001Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340510G>A | CA10606298 | COL6A3 | c.1051C>T c.7788C>T (p.Thr2596=) c.409C>T n.673C>T c.8406C>T (p.Thr2802=) c.6582C>T (p.Thr2194=) n.93C>T c.6585C>T (p.Thr2195=) n.4848C>T c.7806C>T (p.Thr2602=) c.7185C>T (p.Thr2395=) c.7905C>T (p.Thr2635=) c.8403C>T (p.Thr2801=) c.6000C>T (p.Thr2000=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340510G>C | CA431675118 | COL6A3 | c.1051C>G c.7788C>G (p.Thr2596=) c.409C>G n.673C>G c.8406C>G (p.Thr2802=) c.6582C>G (p.Thr2194=) n.93C>G c.6585C>G (p.Thr2195=) n.4848C>G c.7806C>G (p.Thr2602=) c.7185C>G (p.Thr2395=) c.7905C>G (p.Thr2635=) c.8403C>G (p.Thr2801=) c.6000C>G (p.Thr2000=) | |
2 | g.237340510G= | CA1337608502 | COL6A3 | c.1051C= c.7788C= (p.Thr2596=) c.409C= n.673C= c.8406C= (p.Thr2802=) c.6582C= (p.Thr2194=) n.93C= c.6585C= (p.Thr2195=) n.4848C= c.7806C= (p.Thr2602=) c.7185C= (p.Thr2395=) c.7905C= (p.Thr2635=) c.8403C= (p.Thr2801=) c.6000C= (p.Thr2000=) | |
2 | g.237340510G>T | CA431675117 | COL6A3 | c.1051C>A c.7788C>A (p.Thr2596=) c.409C>A n.673C>A c.8406C>A (p.Thr2802=) c.6582C>A (p.Thr2194=) n.93C>A c.6585C>A (p.Thr2195=) n.4848C>A c.7806C>A (p.Thr2602=) c.7185C>A (p.Thr2395=) c.7905C>A (p.Thr2635=) c.8403C>A (p.Thr2801=) c.6000C>A (p.Thr2000=) | |
2 | g.237340511G>A | CA351194702 | COL6A3 | c.1050C>T c.7787C>T (p.Thr2596Ile) c.408C>T n.672C>T c.8405C>T (p.Thr2802Ile) c.6581C>T (p.Thr2194Ile) n.92C>T c.6584C>T (p.Thr2195Ile) n.4847C>T c.7805C>T (p.Thr2602Ile) c.7184C>T (p.Thr2395Ile) c.7904C>T (p.Thr2635Ile) c.8402C>T (p.Thr2801Ile) c.5999C>T (p.Thr2000Ile) | gnomAD v4 |
2 | g.237340511G>C | CA351194704 | COL6A3 | c.1050C>G c.7787C>G (p.Thr2596Ser) c.408C>G n.672C>G c.8405C>G (p.Thr2802Ser) c.6581C>G (p.Thr2194Ser) n.92C>G c.6584C>G (p.Thr2195Ser) n.4847C>G c.7805C>G (p.Thr2602Ser) c.7184C>G (p.Thr2395Ser) c.7904C>G (p.Thr2635Ser) c.8402C>G (p.Thr2801Ser) c.5999C>G (p.Thr2000Ser) | |
2 | g.237340511G>T | CA351194715 | COL6A3 | c.1050C>A c.7787C>A (p.Thr2596Asn) c.408C>A n.672C>A c.8405C>A (p.Thr2802Asn) c.6581C>A (p.Thr2194Asn) n.92C>A c.6584C>A (p.Thr2195Asn) n.4847C>A c.7805C>A (p.Thr2602Asn) c.7184C>A (p.Thr2395Asn) c.7904C>A (p.Thr2635Asn) c.8402C>A (p.Thr2801Asn) c.5999C>A (p.Thr2000Asn) | |
2 | g.237340512T>A | CA351194719 | COL6A3 | c.1049A>T c.7786A>T (p.Thr2596Ser) c.407A>T n.671A>T c.8404A>T (p.Thr2802Ser) c.6580A>T (p.Thr2194Ser) n.91A>T c.6583A>T (p.Thr2195Ser) n.4846A>T c.7804A>T (p.Thr2602Ser) c.7183A>T (p.Thr2395Ser) c.7903A>T (p.Thr2635Ser) c.8401A>T (p.Thr2801Ser) c.5998A>T (p.Thr2000Ser) | |
2 | g.237340512T>C | CA351194722 | COL6A3 | c.1049A>G c.7786A>G (p.Thr2596Ala) c.407A>G n.671A>G c.8404A>G (p.Thr2802Ala) c.6580A>G (p.Thr2194Ala) n.91A>G c.6583A>G (p.Thr2195Ala) n.4846A>G c.7804A>G (p.Thr2602Ala) c.7183A>G (p.Thr2395Ala) c.7903A>G (p.Thr2635Ala) c.8401A>G (p.Thr2801Ala) c.5998A>G (p.Thr2000Ala) | gnomAD v4 |
2 | g.237340512T>G | CA351194723 | COL6A3 | c.1049A>C c.7786A>C (p.Thr2596Pro) c.407A>C n.671A>C c.8404A>C (p.Thr2802Pro) c.6580A>C (p.Thr2194Pro) n.91A>C c.6583A>C (p.Thr2195Pro) n.4846A>C c.7804A>C (p.Thr2602Pro) c.7183A>C (p.Thr2395Pro) c.7903A>C (p.Thr2635Pro) c.8401A>C (p.Thr2801Pro) c.5998A>C (p.Thr2000Pro) | gnomAD v4 |
2 | g.237340513G>A | CA431675119 | COL6A3 | c.1048C>T c.7785C>T (p.Ser2595=) c.406C>T n.670C>T c.8403C>T (p.Ser2801=) c.6579C>T (p.Ser2193=) n.90C>T c.6582C>T (p.Ser2194=) n.4845C>T c.7803C>T (p.Ser2601=) c.7182C>T (p.Ser2394=) c.7902C>T (p.Ser2634=) c.8400C>T (p.Ser2800=) c.5997C>T (p.Ser1999=) | gnomAD v4 |
2 | g.237340513G>C | CA431675120 | COL6A3 | c.1048C>G c.7785C>G (p.Ser2595=) c.406C>G n.670C>G c.8403C>G (p.Ser2801=) c.6579C>G (p.Ser2193=) n.90C>G c.6582C>G (p.Ser2194=) n.4845C>G c.7803C>G (p.Ser2601=) c.7182C>G (p.Ser2394=) c.7902C>G (p.Ser2634=) c.8400C>G (p.Ser2800=) c.5997C>G (p.Ser1999=) | COSMIC |
2 | g.237340513G>T | CA431675121 | COL6A3 | c.1048C>A c.7785C>A (p.Ser2595=) c.406C>A n.670C>A c.8403C>A (p.Ser2801=) c.6579C>A (p.Ser2193=) n.90C>A c.6582C>A (p.Ser2194=) n.4845C>A c.7803C>A (p.Ser2601=) c.7182C>A (p.Ser2394=) c.7902C>A (p.Ser2634=) c.8400C>A (p.Ser2800=) c.5997C>A (p.Ser1999=) | |
2 | g.237340514G>A | CA351194725 | COL6A3 | c.1047C>T c.7784C>T (p.Ser2595Phe) c.405C>T n.669C>T c.8402C>T (p.Ser2801Phe) c.6578C>T (p.Ser2193Phe) n.89C>T c.6581C>T (p.Ser2194Phe) n.4844C>T c.7802C>T (p.Ser2601Phe) c.7181C>T (p.Ser2394Phe) c.7901C>T (p.Ser2634Phe) c.8399C>T (p.Ser2800Phe) c.5996C>T (p.Ser1999Phe) | gnomAD v4 |
2 | g.237340514G>C | CA351194729 | COL6A3 | c.1047C>G c.7784C>G (p.Ser2595Cys) c.405C>G n.669C>G c.8402C>G (p.Ser2801Cys) c.6578C>G (p.Ser2193Cys) n.89C>G c.6581C>G (p.Ser2194Cys) n.4844C>G c.7802C>G (p.Ser2601Cys) c.7181C>G (p.Ser2394Cys) c.7901C>G (p.Ser2634Cys) c.8399C>G (p.Ser2800Cys) c.5996C>G (p.Ser1999Cys) | |
2 | g.237340514G>T | CA351194731 | COL6A3 | c.1047C>A c.7784C>A (p.Ser2595Tyr) c.405C>A n.669C>A c.8402C>A (p.Ser2801Tyr) c.6578C>A (p.Ser2193Tyr) n.89C>A c.6581C>A (p.Ser2194Tyr) n.4844C>A c.7802C>A (p.Ser2601Tyr) c.7181C>A (p.Ser2394Tyr) c.7901C>A (p.Ser2634Tyr) c.8399C>A (p.Ser2800Tyr) c.5996C>A (p.Ser1999Tyr) | |
2 | g.237340515A>C | CA351194735 | COL6A3 | c.1046T>G c.7783T>G (p.Ser2595Ala) c.404T>G n.668T>G c.8401T>G (p.Ser2801Ala) c.6577T>G (p.Ser2193Ala) n.88T>G c.6580T>G (p.Ser2194Ala) n.4843T>G c.7801T>G (p.Ser2601Ala) c.7180T>G (p.Ser2394Ala) c.7900T>G (p.Ser2634Ala) c.8398T>G (p.Ser2800Ala) c.5995T>G (p.Ser1999Ala) | |
2 | g.237340515A>G | CA351194738 | COL6A3 | c.1046T>C c.7783T>C (p.Ser2595Pro) c.404T>C n.668T>C c.8401T>C (p.Ser2801Pro) c.6577T>C (p.Ser2193Pro) n.88T>C c.6580T>C (p.Ser2194Pro) n.4843T>C c.7801T>C (p.Ser2601Pro) c.7180T>C (p.Ser2394Pro) c.7900T>C (p.Ser2634Pro) c.8398T>C (p.Ser2800Pro) c.5995T>C (p.Ser1999Pro) | COSMIC |
2 | g.237340515A>T | CA351194740 | COL6A3 | c.1046T>A c.7783T>A (p.Ser2595Thr) c.404T>A n.668T>A c.8401T>A (p.Ser2801Thr) c.6577T>A (p.Ser2193Thr) n.88T>A c.6580T>A (p.Ser2194Thr) n.4843T>A c.7801T>A (p.Ser2601Thr) c.7180T>A (p.Ser2394Thr) c.7900T>A (p.Ser2634Thr) c.8398T>A (p.Ser2800Thr) c.5995T>A (p.Ser1999Thr) | |
2 | g.237340516C>A | CA351194744 | COL6A3 | c.1045G>T c.7782G>T (p.Lys2594Asn) c.403G>T n.667G>T c.8400G>T (p.Lys2800Asn) c.6576G>T (p.Lys2192Asn) n.87G>T c.6579G>T (p.Lys2193Asn) n.4842G>T c.7800G>T (p.Lys2600Asn) c.7179G>T (p.Lys2393Asn) c.7899G>T (p.Lys2633Asn) c.8397G>T (p.Lys2799Asn) c.5994G>T (p.Lys1998Asn) | |
2 | g.237340516C= | CA1337608509 | COL6A3 | c.1045G= c.7782G= (p.Lys2594=) c.403G= n.667G= c.8400G= (p.Lys2800=) c.6576G= (p.Lys2192=) n.87G= c.6579G= (p.Lys2193=) n.4842G= c.7800G= (p.Lys2600=) c.7179G= (p.Lys2393=) c.7899G= (p.Lys2633=) c.8397G= (p.Lys2799=) c.5994G= (p.Lys1998=) | |
2 | g.237340516C>G | CA351194748 | COL6A3 | c.1045G>C c.7782G>C (p.Lys2594Asn) c.403G>C n.667G>C c.8400G>C (p.Lys2800Asn) c.6576G>C (p.Lys2192Asn) n.87G>C c.6579G>C (p.Lys2193Asn) n.4842G>C c.7800G>C (p.Lys2600Asn) c.7179G>C (p.Lys2393Asn) c.7899G>C (p.Lys2633Asn) c.8397G>C (p.Lys2799Asn) c.5994G>C (p.Lys1998Asn) | |
2 | g.237340516C>T | CA2187559 | COL6A3 | c.1045G>A c.7782G>A (p.Lys2594=) c.403G>A n.667G>A c.8400G>A (p.Lys2800=) c.6576G>A (p.Lys2192=) n.87G>A c.6579G>A (p.Lys2193=) n.4842G>A c.7800G>A (p.Lys2600=) c.7179G>A (p.Lys2393=) c.7899G>A (p.Lys2633=) c.8397G>A (p.Lys2799=) c.5994G>A (p.Lys1998=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340517T>A | CA351194752 | COL6A3 | c.1044A>T c.7781A>T (p.Lys2594Met) c.402A>T n.666A>T c.8399A>T (p.Lys2800Met) c.6575A>T (p.Lys2192Met) n.86A>T c.6578A>T (p.Lys2193Met) n.4841A>T c.7799A>T (p.Lys2600Met) c.7178A>T (p.Lys2393Met) c.7898A>T (p.Lys2633Met) c.8396A>T (p.Lys2799Met) c.5993A>T (p.Lys1998Met) | |
2 | g.237340517T>C | CA351194755 | COL6A3 | c.1044A>G c.7781A>G (p.Lys2594Arg) c.402A>G n.666A>G c.8399A>G (p.Lys2800Arg) c.6575A>G (p.Lys2192Arg) n.86A>G c.6578A>G (p.Lys2193Arg) n.4841A>G c.7799A>G (p.Lys2600Arg) c.7178A>G (p.Lys2393Arg) c.7898A>G (p.Lys2633Arg) c.8396A>G (p.Lys2799Arg) c.5993A>G (p.Lys1998Arg) | gnomAD v4 |
2 | g.237340517T>G | CA351194757 | COL6A3 | c.1044A>C c.7781A>C (p.Lys2594Thr) c.402A>C n.666A>C c.8399A>C (p.Lys2800Thr) c.6575A>C (p.Lys2192Thr) n.86A>C c.6578A>C (p.Lys2193Thr) n.4841A>C c.7799A>C (p.Lys2600Thr) c.7178A>C (p.Lys2393Thr) c.7898A>C (p.Lys2633Thr) c.8396A>C (p.Lys2799Thr) c.5993A>C (p.Lys1998Thr) | |
2 | g.237340518T>A | CA351194762 | COL6A3 | c.1043A>T c.7780A>T (p.Lys2594Ter) c.401A>T n.665A>T c.8398A>T (p.Lys2800Ter) c.6574A>T (p.Lys2192Ter) n.85A>T c.6577A>T (p.Lys2193Ter) n.4840A>T c.7798A>T (p.Lys2600Ter) c.7177A>T (p.Lys2393Ter) c.7897A>T (p.Lys2633Ter) c.8395A>T (p.Lys2799Ter) c.5992A>T (p.Lys1998Ter) | |
2 | g.237340518T>C | CA351194766 | COL6A3 | c.1043A>G c.7780A>G (p.Lys2594Glu) c.401A>G n.665A>G c.8398A>G (p.Lys2800Glu) c.6574A>G (p.Lys2192Glu) n.85A>G c.6577A>G (p.Lys2193Glu) n.4840A>G c.7798A>G (p.Lys2600Glu) c.7177A>G (p.Lys2393Glu) c.7897A>G (p.Lys2633Glu) c.8395A>G (p.Lys2799Glu) c.5992A>G (p.Lys1998Glu) | |
2 | g.237340518T>G | CA351194769 | COL6A3 | c.1043A>C c.7780A>C (p.Lys2594Gln) c.401A>C n.665A>C c.8398A>C (p.Lys2800Gln) c.6574A>C (p.Lys2192Gln) n.85A>C c.6577A>C (p.Lys2193Gln) n.4840A>C c.7798A>C (p.Lys2600Gln) c.7177A>C (p.Lys2393Gln) c.7897A>C (p.Lys2633Gln) c.8395A>C (p.Lys2799Gln) c.5992A>C (p.Lys1998Gln) | |
2 | g.237340519G>A | CA431675124 | COL6A3 | c.1042C>T c.7779C>T (p.Asp2593=) c.400C>T n.664C>T c.8397C>T (p.Asp2799=) c.6573C>T (p.Asp2191=) n.84C>T c.6576C>T (p.Asp2192=) n.4839C>T c.7797C>T (p.Asp2599=) c.7176C>T (p.Asp2392=) c.7896C>T (p.Asp2632=) c.8394C>T (p.Asp2798=) c.5991C>T (p.Asp1997=) | ClinVar dbSNP |
2 | g.237340519G>C | CA351194773 | COL6A3 | c.1042C>G c.7779C>G (p.Asp2593Glu) c.400C>G n.664C>G c.8397C>G (p.Asp2799Glu) c.6573C>G (p.Asp2191Glu) n.84C>G c.6576C>G (p.Asp2192Glu) n.4839C>G c.7797C>G (p.Asp2599Glu) c.7176C>G (p.Asp2392Glu) c.7896C>G (p.Asp2632Glu) c.8394C>G (p.Asp2798Glu) c.5991C>G (p.Asp1997Glu) | |
2 | g.237340519G= | CA1337608517 | COL6A3 | c.1042C= c.7779C= (p.Asp2593=) c.400C= n.664C= c.8397C= (p.Asp2799=) c.6573C= (p.Asp2191=) n.84C= c.6576C= (p.Asp2192=) n.4839C= c.7797C= (p.Asp2599=) c.7176C= (p.Asp2392=) c.7896C= (p.Asp2632=) c.8394C= (p.Asp2798=) c.5991C= (p.Asp1997=) | |
2 | g.237340519G>T | CA351194775 | COL6A3 | c.1042C>A c.7779C>A (p.Asp2593Glu) c.400C>A n.664C>A c.8397C>A (p.Asp2799Glu) c.6573C>A (p.Asp2191Glu) n.84C>A c.6576C>A (p.Asp2192Glu) n.4839C>A c.7797C>A (p.Asp2599Glu) c.7176C>A (p.Asp2392Glu) c.7896C>A (p.Asp2632Glu) c.8394C>A (p.Asp2798Glu) c.5991C>A (p.Asp1997Glu) | |
2 | g.237340520T>A | CA351194778 | COL6A3 | c.1041A>T c.7778A>T (p.Asp2593Val) c.399A>T n.663A>T c.8396A>T (p.Asp2799Val) c.6572A>T (p.Asp2191Val) n.83A>T c.6575A>T (p.Asp2192Val) n.4838A>T c.7796A>T (p.Asp2599Val) c.7175A>T (p.Asp2392Val) c.7895A>T (p.Asp2632Val) c.8393A>T (p.Asp2798Val) c.5990A>T (p.Asp1997Val) | |
2 | g.237340520T>C | CA351194781 | COL6A3 | c.1041A>G c.7778A>G (p.Asp2593Gly) c.399A>G n.663A>G c.8396A>G (p.Asp2799Gly) c.6572A>G (p.Asp2191Gly) n.83A>G c.6575A>G (p.Asp2192Gly) n.4838A>G c.7796A>G (p.Asp2599Gly) c.7175A>G (p.Asp2392Gly) c.7895A>G (p.Asp2632Gly) c.8393A>G (p.Asp2798Gly) c.5990A>G (p.Asp1997Gly) | gnomAD v4 |
2 | g.237340520T>G | CA351194782 | COL6A3 | c.1041A>C c.7778A>C (p.Asp2593Ala) c.399A>C n.663A>C c.8396A>C (p.Asp2799Ala) c.6572A>C (p.Asp2191Ala) n.83A>C c.6575A>C (p.Asp2192Ala) n.4838A>C c.7796A>C (p.Asp2599Ala) c.7175A>C (p.Asp2392Ala) c.7895A>C (p.Asp2632Ala) c.8393A>C (p.Asp2798Ala) c.5990A>C (p.Asp1997Ala) | |
2 | g.237340521C>A | CA351194789 | COL6A3 | c.1040G>T c.7777G>T (p.Asp2593Tyr) c.398G>T n.662G>T c.8395G>T (p.Asp2799Tyr) c.6571G>T (p.Asp2191Tyr) n.82G>T c.6574G>T (p.Asp2192Tyr) n.4837G>T c.7795G>T (p.Asp2599Tyr) c.7174G>T (p.Asp2392Tyr) c.7894G>T (p.Asp2632Tyr) c.8392G>T (p.Asp2798Tyr) c.5989G>T (p.Asp1997Tyr) | |
2 | g.237340521C= | CA1337608519 | COL6A3 | c.1040G= c.7777G= (p.Asp2593=) c.398G= n.662G= c.8395G= (p.Asp2799=) c.6571G= (p.Asp2191=) n.82G= c.6574G= (p.Asp2192=) n.4837G= c.7795G= (p.Asp2599=) c.7174G= (p.Asp2392=) c.7894G= (p.Asp2632=) c.8392G= (p.Asp2798=) c.5989G= (p.Asp1997=) | |
2 | g.237340521C>G | CA351194787 | COL6A3 | c.1040G>C c.7777G>C (p.Asp2593His) c.398G>C n.662G>C c.8395G>C (p.Asp2799His) c.6571G>C (p.Asp2191His) n.82G>C c.6574G>C (p.Asp2192His) n.4837G>C c.7795G>C (p.Asp2599His) c.7174G>C (p.Asp2392His) c.7894G>C (p.Asp2632His) c.8392G>C (p.Asp2798His) c.5989G>C (p.Asp1997His) | |
2 | g.237340521C>T | CA2187560 | COL6A3 | c.1040G>A c.7777G>A (p.Asp2593Asn) c.398G>A n.662G>A c.8395G>A (p.Asp2799Asn) c.6571G>A (p.Asp2191Asn) n.82G>A c.6574G>A (p.Asp2192Asn) n.4837G>A c.7795G>A (p.Asp2599Asn) c.7174G>A (p.Asp2392Asn) c.7894G>A (p.Asp2632Asn) c.8392G>A (p.Asp2798Asn) c.5989G>A (p.Asp1997Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340522C>A | CA431675125 | COL6A3 | c.1039G>T c.7776G>T (p.Val2592=) c.397G>T n.661G>T c.8394G>T (p.Val2798=) c.6570G>T (p.Val2190=) n.81G>T c.6573G>T (p.Val2191=) n.4836G>T c.7794G>T (p.Val2598=) c.7173G>T (p.Val2391=) c.7893G>T (p.Val2631=) c.8391G>T (p.Val2797=) c.5988G>T (p.Val1996=) | dbSNP gnomAD v4 |
2 | g.237340522C= | CA1337608523 | COL6A3 | c.1039G= c.7776G= (p.Val2592=) c.397G= n.661G= c.8394G= (p.Val2798=) c.6570G= (p.Val2190=) n.81G= c.6573G= (p.Val2191=) n.4836G= c.7794G= (p.Val2598=) c.7173G= (p.Val2391=) c.7893G= (p.Val2631=) c.8391G= (p.Val2797=) c.5988G= (p.Val1996=) | |
2 | g.237340522C>G | CA2187561 | COL6A3 | c.1039G>C c.7776G>C (p.Val2592=) c.397G>C n.661G>C c.8394G>C (p.Val2798=) c.6570G>C (p.Val2190=) n.81G>C c.6573G>C (p.Val2191=) n.4836G>C c.7794G>C (p.Val2598=) c.7173G>C (p.Val2391=) c.7893G>C (p.Val2631=) c.8391G>C (p.Val2797=) c.5988G>C (p.Val1996=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340522C>T | CA431675126 | COL6A3 | c.1039G>A c.7776G>A (p.Val2592=) c.397G>A n.661G>A c.8394G>A (p.Val2798=) c.6570G>A (p.Val2190=) n.81G>A c.6573G>A (p.Val2191=) n.4836G>A c.7794G>A (p.Val2598=) c.7173G>A (p.Val2391=) c.7893G>A (p.Val2631=) c.8391G>A (p.Val2797=) c.5988G>A (p.Val1996=) | gnomAD v4 |
2 | g.237340523A= | CA1337608526 | COL6A3 | c.1038T= c.7775T= (p.Val2592=) c.396T= n.660T= c.8393T= (p.Val2798=) c.6569T= (p.Val2190=) n.80T= c.6572T= (p.Val2191=) n.4835T= c.7793T= (p.Val2598=) c.7172T= (p.Val2391=) c.7892T= (p.Val2631=) c.8390T= (p.Val2797=) c.5987T= (p.Val1996=) | |
2 | g.237340523A>C | CA351194794 | COL6A3 | c.1038T>G c.7775T>G (p.Val2592Gly) c.396T>G n.660T>G c.8393T>G (p.Val2798Gly) c.6569T>G (p.Val2190Gly) n.80T>G c.6572T>G (p.Val2191Gly) n.4835T>G c.7793T>G (p.Val2598Gly) c.7172T>G (p.Val2391Gly) c.7892T>G (p.Val2631Gly) c.8390T>G (p.Val2797Gly) c.5987T>G (p.Val1996Gly) | |
2 | g.237340523A>G | CA2187562 | COL6A3 | c.1038T>C c.7775T>C (p.Val2592Ala) c.396T>C n.660T>C c.8393T>C (p.Val2798Ala) c.6569T>C (p.Val2190Ala) n.80T>C c.6572T>C (p.Val2191Ala) n.4835T>C c.7793T>C (p.Val2598Ala) c.7172T>C (p.Val2391Ala) c.7892T>C (p.Val2631Ala) c.8390T>C (p.Val2797Ala) c.5987T>C (p.Val1996Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340523A>T | CA351194795 | COL6A3 | c.1038T>A c.7775T>A (p.Val2592Glu) c.396T>A n.660T>A c.8393T>A (p.Val2798Glu) c.6569T>A (p.Val2190Glu) n.80T>A c.6572T>A (p.Val2191Glu) n.4835T>A c.7793T>A (p.Val2598Glu) c.7172T>A (p.Val2391Glu) c.7892T>A (p.Val2631Glu) c.8390T>A (p.Val2797Glu) c.5987T>A (p.Val1996Glu) | |
2 | g.237340524C>A | CA351194798 | COL6A3 | c.1037G>T c.7774G>T (p.Val2592Leu) c.395G>T n.659G>T c.8392G>T (p.Val2798Leu) c.6568G>T (p.Val2190Leu) n.79G>T c.6571G>T (p.Val2191Leu) n.4834G>T c.7792G>T (p.Val2598Leu) c.7171G>T (p.Val2391Leu) c.7891G>T (p.Val2631Leu) c.8389G>T (p.Val2797Leu) c.5986G>T (p.Val1996Leu) | |
2 | g.237340524C>G | CA351194800 | COL6A3 | c.1037G>C c.7774G>C (p.Val2592Leu) c.395G>C n.659G>C c.8392G>C (p.Val2798Leu) c.6568G>C (p.Val2190Leu) n.79G>C c.6571G>C (p.Val2191Leu) n.4834G>C c.7792G>C (p.Val2598Leu) c.7171G>C (p.Val2391Leu) c.7891G>C (p.Val2631Leu) c.8389G>C (p.Val2797Leu) c.5986G>C (p.Val1996Leu) | |
2 | g.237340524C>T | CA351194803 | COL6A3 | c.1037G>A c.7774G>A (p.Val2592Met) c.395G>A n.659G>A c.8392G>A (p.Val2798Met) c.6568G>A (p.Val2190Met) n.79G>A c.6571G>A (p.Val2191Met) n.4834G>A c.7792G>A (p.Val2598Met) c.7171G>A (p.Val2391Met) c.7891G>A (p.Val2631Met) c.8389G>A (p.Val2797Met) c.5986G>A (p.Val1996Met) | |
2 | g.237340525T>A | CA351194806 | COL6A3 | c.1036A>T c.7773A>T (p.Leu2591Phe) c.394A>T n.658A>T c.8391A>T (p.Leu2797Phe) c.6567A>T (p.Leu2189Phe) n.78A>T c.6570A>T (p.Leu2190Phe) n.4833A>T c.7791A>T (p.Leu2597Phe) c.7170A>T (p.Leu2390Phe) c.7890A>T (p.Leu2630Phe) c.8388A>T (p.Leu2796Phe) c.5985A>T (p.Leu1995Phe) | |
2 | g.237340525T>C | CA431675129 | COL6A3 | c.1036A>G c.7773A>G (p.Leu2591=) c.394A>G n.658A>G c.8391A>G (p.Leu2797=) c.6567A>G (p.Leu2189=) n.78A>G c.6570A>G (p.Leu2190=) n.4833A>G c.7791A>G (p.Leu2597=) c.7170A>G (p.Leu2390=) c.7890A>G (p.Leu2630=) c.8388A>G (p.Leu2796=) c.5985A>G (p.Leu1995=) | dbSNP gnomAD v4 |
2 | g.237340525T>G | CA351194807 | COL6A3 | c.1036A>C c.7773A>C (p.Leu2591Phe) c.394A>C n.658A>C c.8391A>C (p.Leu2797Phe) c.6567A>C (p.Leu2189Phe) n.78A>C c.6570A>C (p.Leu2190Phe) n.4833A>C c.7791A>C (p.Leu2597Phe) c.7170A>C (p.Leu2390Phe) c.7890A>C (p.Leu2630Phe) c.8388A>C (p.Leu2796Phe) c.5985A>C (p.Leu1995Phe) | |
2 | g.237340525T= | CA1337608531 | COL6A3 | c.1036A= c.7773A= (p.Leu2591=) c.394A= n.658A= c.8391A= (p.Leu2797=) c.6567A= (p.Leu2189=) n.78A= c.6570A= (p.Leu2190=) n.4833A= c.7791A= (p.Leu2597=) c.7170A= (p.Leu2390=) c.7890A= (p.Leu2630=) c.8388A= (p.Leu2796=) c.5985A= (p.Leu1995=) | |
2 | g.237340526A= | CA1337608533 | COL6A3 | c.1035T= c.7772T= (p.Leu2591=) c.393T= n.657T= c.8390T= (p.Leu2797=) c.6566T= (p.Leu2189=) n.77T= c.6569T= (p.Leu2190=) n.4832T= c.7790T= (p.Leu2597=) c.7169T= (p.Leu2390=) c.7889T= (p.Leu2630=) c.8387T= (p.Leu2796=) c.5984T= (p.Leu1995=) | |
2 | g.237340526A>C | CA351194810 | COL6A3 | c.1035T>G c.7772T>G (p.Leu2591Ter) c.393T>G n.657T>G c.8390T>G (p.Leu2797Ter) c.6566T>G (p.Leu2189Ter) n.77T>G c.6569T>G (p.Leu2190Ter) n.4832T>G c.7790T>G (p.Leu2597Ter) c.7169T>G (p.Leu2390Ter) c.7889T>G (p.Leu2630Ter) c.8387T>G (p.Leu2796Ter) c.5984T>G (p.Leu1995Ter) | |
2 | g.237340526A>G | CA351194817 | COL6A3 | c.1035T>C c.7772T>C (p.Leu2591Ser) c.393T>C n.657T>C c.8390T>C (p.Leu2797Ser) c.6566T>C (p.Leu2189Ser) n.77T>C c.6569T>C (p.Leu2190Ser) n.4832T>C c.7790T>C (p.Leu2597Ser) c.7169T>C (p.Leu2390Ser) c.7889T>C (p.Leu2630Ser) c.8387T>C (p.Leu2796Ser) c.5984T>C (p.Leu1995Ser) | dbSNP |
2 | g.237340526A>T | CA351194818 | COL6A3 | c.1035T>A c.7772T>A (p.Leu2591Ter) c.393T>A n.657T>A c.8390T>A (p.Leu2797Ter) c.6566T>A (p.Leu2189Ter) n.77T>A c.6569T>A (p.Leu2190Ter) n.4832T>A c.7790T>A (p.Leu2597Ter) c.7169T>A (p.Leu2390Ter) c.7889T>A (p.Leu2630Ter) c.8387T>A (p.Leu2796Ter) c.5984T>A (p.Leu1995Ter) | |
2 | g.237340527A= | CA1337608537 | COL6A3 | c.1034T= c.7771T= (p.Leu2591=) c.392T= n.656T= c.8389T= (p.Leu2797=) c.6565T= (p.Leu2189=) n.76T= c.6568T= (p.Leu2190=) n.4831T= c.7789T= (p.Leu2597=) c.7168T= (p.Leu2390=) c.7888T= (p.Leu2630=) c.8386T= (p.Leu2796=) c.5983T= (p.Leu1995=) | |
2 | g.237340527A>C | CA351194825 | COL6A3 | c.1034T>G c.7771T>G (p.Leu2591Val) c.392T>G n.656T>G c.8389T>G (p.Leu2797Val) c.6565T>G (p.Leu2189Val) n.76T>G c.6568T>G (p.Leu2190Val) n.4831T>G c.7789T>G (p.Leu2597Val) c.7168T>G (p.Leu2390Val) c.7888T>G (p.Leu2630Val) c.8386T>G (p.Leu2796Val) c.5983T>G (p.Leu1995Val) | |
2 | g.237340527A>G | CA2187563 | COL6A3 | c.1034T>C c.7771T>C (p.Leu2591=) c.392T>C n.656T>C c.8389T>C (p.Leu2797=) c.6565T>C (p.Leu2189=) n.76T>C c.6568T>C (p.Leu2190=) n.4831T>C c.7789T>C (p.Leu2597=) c.7168T>C (p.Leu2390=) c.7888T>C (p.Leu2630=) c.8386T>C (p.Leu2796=) c.5983T>C (p.Leu1995=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340527A>T | CA351194821 | COL6A3 | c.1034T>A c.7771T>A (p.Leu2591Ile) c.392T>A n.656T>A c.8389T>A (p.Leu2797Ile) c.6565T>A (p.Leu2189Ile) n.76T>A c.6568T>A (p.Leu2190Ile) n.4831T>A c.7789T>A (p.Leu2597Ile) c.7168T>A (p.Leu2390Ile) c.7888T>A (p.Leu2630Ile) c.8386T>A (p.Leu2796Ile) c.5983T>A (p.Leu1995Ile) | |
2 | g.237340528T>A | CA351194826 | COL6A3 | c.1033A>T c.7770A>T (p.Lys2590Asn) c.391A>T n.655A>T c.8388A>T (p.Lys2796Asn) c.6564A>T (p.Lys2188Asn) n.75A>T c.6567A>T (p.Lys2189Asn) n.4830A>T c.7788A>T (p.Lys2596Asn) c.7167A>T (p.Lys2389Asn) c.7887A>T (p.Lys2629Asn) c.8385A>T (p.Lys2795Asn) c.5982A>T (p.Lys1994Asn) | |
2 | g.237340528T>C | CA431675131 | COL6A3 | c.1033A>G c.7770A>G (p.Lys2590=) c.391A>G n.655A>G c.8388A>G (p.Lys2796=) c.6564A>G (p.Lys2188=) n.75A>G c.6567A>G (p.Lys2189=) n.4830A>G c.7788A>G (p.Lys2596=) c.7167A>G (p.Lys2389=) c.7887A>G (p.Lys2629=) c.8385A>G (p.Lys2795=) c.5982A>G (p.Lys1994=) | |
2 | g.237340528T>G | CA351194829 | COL6A3 | c.1033A>C c.7770A>C (p.Lys2590Asn) c.391A>C n.655A>C c.8388A>C (p.Lys2796Asn) c.6564A>C (p.Lys2188Asn) n.75A>C c.6567A>C (p.Lys2189Asn) n.4830A>C c.7788A>C (p.Lys2596Asn) c.7167A>C (p.Lys2389Asn) c.7887A>C (p.Lys2629Asn) c.8385A>C (p.Lys2795Asn) c.5982A>C (p.Lys1994Asn) | |
2 | g.237340529T>A | CA351194836 | COL6A3 | c.1032A>T c.7769A>T (p.Lys2590Ile) c.390A>T n.654A>T c.8387A>T (p.Lys2796Ile) c.6563A>T (p.Lys2188Ile) n.74A>T c.6566A>T (p.Lys2189Ile) n.4829A>T c.7787A>T (p.Lys2596Ile) c.7166A>T (p.Lys2389Ile) c.7886A>T (p.Lys2629Ile) c.8384A>T (p.Lys2795Ile) c.5981A>T (p.Lys1994Ile) | |
2 | g.237340529T>C | CA351194840 | COL6A3 | c.1032A>G c.7769A>G (p.Lys2590Arg) c.390A>G n.654A>G c.8387A>G (p.Lys2796Arg) c.6563A>G (p.Lys2188Arg) n.74A>G c.6566A>G (p.Lys2189Arg) n.4829A>G c.7787A>G (p.Lys2596Arg) c.7166A>G (p.Lys2389Arg) c.7886A>G (p.Lys2629Arg) c.8384A>G (p.Lys2795Arg) c.5981A>G (p.Lys1994Arg) | |
2 | g.237340529T>G | CA351194838 | COL6A3 | c.1032A>C c.7769A>C (p.Lys2590Thr) c.390A>C n.654A>C c.8387A>C (p.Lys2796Thr) c.6563A>C (p.Lys2188Thr) n.74A>C c.6566A>C (p.Lys2189Thr) n.4829A>C c.7787A>C (p.Lys2596Thr) c.7166A>C (p.Lys2389Thr) c.7886A>C (p.Lys2629Thr) c.8384A>C (p.Lys2795Thr) c.5981A>C (p.Lys1994Thr) | |
2 | g.237340530T>A | CA351194844 | COL6A3 | c.1031A>T c.7768A>T (p.Lys2590Ter) c.389A>T n.653A>T c.8386A>T (p.Lys2796Ter) c.6562A>T (p.Lys2188Ter) n.73A>T c.6565A>T (p.Lys2189Ter) n.4828A>T c.7786A>T (p.Lys2596Ter) c.7165A>T (p.Lys2389Ter) c.7885A>T (p.Lys2629Ter) c.8383A>T (p.Lys2795Ter) c.5980A>T (p.Lys1994Ter) | |
2 | g.237340530T>C | CA351194848 | COL6A3 | c.1031A>G c.7768A>G (p.Lys2590Glu) c.389A>G n.653A>G c.8386A>G (p.Lys2796Glu) c.6562A>G (p.Lys2188Glu) n.73A>G c.6565A>G (p.Lys2189Glu) n.4828A>G c.7786A>G (p.Lys2596Glu) c.7165A>G (p.Lys2389Glu) c.7885A>G (p.Lys2629Glu) c.8383A>G (p.Lys2795Glu) c.5980A>G (p.Lys1994Glu) | ClinVar dbSNP |
2 | g.237340530T>G | CA351194850 | COL6A3 | c.1031A>C c.7768A>C (p.Lys2590Gln) c.389A>C n.653A>C c.8386A>C (p.Lys2796Gln) c.6562A>C (p.Lys2188Gln) n.73A>C c.6565A>C (p.Lys2189Gln) n.4828A>C c.7786A>C (p.Lys2596Gln) c.7165A>C (p.Lys2389Gln) c.7885A>C (p.Lys2629Gln) c.8383A>C (p.Lys2795Gln) c.5980A>C (p.Lys1994Gln) | |
2 | g.237340531G>A | CA2187564 | COL6A3 | c.1030C>T c.7767C>T (p.Phe2589=) c.388C>T n.652C>T c.8385C>T (p.Phe2795=) c.6561C>T (p.Phe2187=) n.72C>T c.6564C>T (p.Phe2188=) n.4827C>T c.7785C>T (p.Phe2595=) c.7164C>T (p.Phe2388=) c.7884C>T (p.Phe2628=) c.8382C>T (p.Phe2794=) c.5979C>T (p.Phe1993=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340531G>C | CA351194856 | COL6A3 | c.1030C>G c.7767C>G (p.Phe2589Leu) c.388C>G n.652C>G c.8385C>G (p.Phe2795Leu) c.6561C>G (p.Phe2187Leu) n.72C>G c.6564C>G (p.Phe2188Leu) n.4827C>G c.7785C>G (p.Phe2595Leu) c.7164C>G (p.Phe2388Leu) c.7884C>G (p.Phe2628Leu) c.8382C>G (p.Phe2794Leu) c.5979C>G (p.Phe1993Leu) | |
2 | g.237340531G= | CA1337608546 | COL6A3 | c.1030C= c.7767C= (p.Phe2589=) c.388C= n.652C= c.8385C= (p.Phe2795=) c.6561C= (p.Phe2187=) n.72C= c.6564C= (p.Phe2188=) n.4827C= c.7785C= (p.Phe2595=) c.7164C= (p.Phe2388=) c.7884C= (p.Phe2628=) c.8382C= (p.Phe2794=) c.5979C= (p.Phe1993=) | |
2 | g.237340531G>T | CA351194858 | COL6A3 | c.1030C>A c.7767C>A (p.Phe2589Leu) c.388C>A n.652C>A c.8385C>A (p.Phe2795Leu) c.6561C>A (p.Phe2187Leu) n.72C>A c.6564C>A (p.Phe2188Leu) n.4827C>A c.7785C>A (p.Phe2595Leu) c.7164C>A (p.Phe2388Leu) c.7884C>A (p.Phe2628Leu) c.8382C>A (p.Phe2794Leu) c.5979C>A (p.Phe1993Leu) | |
2 | g.237340532A>C | CA351194860 | COL6A3 | c.1029T>G c.7766T>G (p.Phe2589Cys) c.387T>G n.651T>G c.8384T>G (p.Phe2795Cys) c.6560T>G (p.Phe2187Cys) n.71T>G c.6563T>G (p.Phe2188Cys) n.4826T>G c.7784T>G (p.Phe2595Cys) c.7163T>G (p.Phe2388Cys) c.7883T>G (p.Phe2628Cys) c.8381T>G (p.Phe2794Cys) c.5978T>G (p.Phe1993Cys) | |
2 | g.237340532A>G | CA351194863 | COL6A3 | c.1029T>C c.7766T>C (p.Phe2589Ser) c.387T>C n.651T>C c.8384T>C (p.Phe2795Ser) c.6560T>C (p.Phe2187Ser) n.71T>C c.6563T>C (p.Phe2188Ser) n.4826T>C c.7784T>C (p.Phe2595Ser) c.7163T>C (p.Phe2388Ser) c.7883T>C (p.Phe2628Ser) c.8381T>C (p.Phe2794Ser) c.5978T>C (p.Phe1993Ser) | ClinVar |
2 | g.237340532A>T | CA351194867 | COL6A3 | c.1029T>A c.7766T>A (p.Phe2589Tyr) c.387T>A n.651T>A c.8384T>A (p.Phe2795Tyr) c.6560T>A (p.Phe2187Tyr) n.71T>A c.6563T>A (p.Phe2188Tyr) n.4826T>A c.7784T>A (p.Phe2595Tyr) c.7163T>A (p.Phe2388Tyr) c.7883T>A (p.Phe2628Tyr) c.8381T>A (p.Phe2794Tyr) c.5978T>A (p.Phe1993Tyr) | |
2 | g.237340533A>C | CA351194870 | COL6A3 | c.1028T>G c.7765T>G (p.Phe2589Val) c.386T>G n.650T>G c.8383T>G (p.Phe2795Val) c.6559T>G (p.Phe2187Val) n.70T>G c.6562T>G (p.Phe2188Val) n.4825T>G c.7783T>G (p.Phe2595Val) c.7162T>G (p.Phe2388Val) c.7882T>G (p.Phe2628Val) c.8380T>G (p.Phe2794Val) c.5977T>G (p.Phe1993Val) | |
2 | g.237340533A>G | CA351194873 | COL6A3 | c.1028T>C c.7765T>C (p.Phe2589Leu) c.386T>C n.650T>C c.8383T>C (p.Phe2795Leu) c.6559T>C (p.Phe2187Leu) n.70T>C c.6562T>C (p.Phe2188Leu) n.4825T>C c.7783T>C (p.Phe2595Leu) c.7162T>C (p.Phe2388Leu) c.7882T>C (p.Phe2628Leu) c.8380T>C (p.Phe2794Leu) c.5977T>C (p.Phe1993Leu) | |
2 | g.237340533A>T | CA351194876 | COL6A3 | c.1028T>A c.7765T>A (p.Phe2589Ile) c.386T>A n.650T>A c.8383T>A (p.Phe2795Ile) c.6559T>A (p.Phe2187Ile) n.70T>A c.6562T>A (p.Phe2188Ile) n.4825T>A c.7783T>A (p.Phe2595Ile) c.7162T>A (p.Phe2388Ile) c.7882T>A (p.Phe2628Ile) c.8380T>A (p.Phe2794Ile) c.5977T>A (p.Phe1993Ile) | |
2 | g.237340534G>A | CA431675132 | COL6A3 | c.1027C>T c.7764C>T (p.Phe2588=) c.385C>T n.649C>T c.8382C>T (p.Phe2794=) c.6558C>T (p.Phe2186=) n.69C>T c.6561C>T (p.Phe2187=) n.4824C>T c.7782C>T (p.Phe2594=) c.7161C>T (p.Phe2387=) c.7881C>T (p.Phe2627=) c.8379C>T (p.Phe2793=) c.5976C>T (p.Phe1992=) | |
2 | g.237340534G>C | CA351194878 | COL6A3 | c.1027C>G c.7764C>G (p.Phe2588Leu) c.385C>G n.649C>G c.8382C>G (p.Phe2794Leu) c.6558C>G (p.Phe2186Leu) n.69C>G c.6561C>G (p.Phe2187Leu) n.4824C>G c.7782C>G (p.Phe2594Leu) c.7161C>G (p.Phe2387Leu) c.7881C>G (p.Phe2627Leu) c.8379C>G (p.Phe2793Leu) c.5976C>G (p.Phe1992Leu) | |
2 | g.237340534G>T | CA351194879 | COL6A3 | c.1027C>A c.7764C>A (p.Phe2588Leu) c.385C>A n.649C>A c.8382C>A (p.Phe2794Leu) c.6558C>A (p.Phe2186Leu) n.69C>A c.6561C>A (p.Phe2187Leu) n.4824C>A c.7782C>A (p.Phe2594Leu) c.7161C>A (p.Phe2387Leu) c.7881C>A (p.Phe2627Leu) c.8379C>A (p.Phe2793Leu) c.5976C>A (p.Phe1992Leu) | |
2 | g.237340535A>C | CA351194882 | COL6A3 | c.1026T>G c.7763T>G (p.Phe2588Cys) c.384T>G n.648T>G c.8381T>G (p.Phe2794Cys) c.6557T>G (p.Phe2186Cys) n.68T>G c.6560T>G (p.Phe2187Cys) n.4823T>G c.7781T>G (p.Phe2594Cys) c.7160T>G (p.Phe2387Cys) c.7880T>G (p.Phe2627Cys) c.8378T>G (p.Phe2793Cys) c.5975T>G (p.Phe1992Cys) | |
2 | g.237340535A>G | CA351194885 | COL6A3 | c.1026T>C c.7763T>C (p.Phe2588Ser) c.384T>C n.648T>C c.8381T>C (p.Phe2794Ser) c.6557T>C (p.Phe2186Ser) n.68T>C c.6560T>C (p.Phe2187Ser) n.4823T>C c.7781T>C (p.Phe2594Ser) c.7160T>C (p.Phe2387Ser) c.7880T>C (p.Phe2627Ser) c.8378T>C (p.Phe2793Ser) c.5975T>C (p.Phe1992Ser) | |
2 | g.237340535A>T | CA351194887 | COL6A3 | c.1026T>A c.7763T>A (p.Phe2588Tyr) c.384T>A n.648T>A c.8381T>A (p.Phe2794Tyr) c.6557T>A (p.Phe2186Tyr) n.68T>A c.6560T>A (p.Phe2187Tyr) n.4823T>A c.7781T>A (p.Phe2594Tyr) c.7160T>A (p.Phe2387Tyr) c.7880T>A (p.Phe2627Tyr) c.8378T>A (p.Phe2793Tyr) c.5975T>A (p.Phe1992Tyr) | |
2 | g.237340536A= | CA1337608552 | COL6A3 | c.1025T= c.7762T= (p.Phe2588=) c.383T= n.647T= c.8380T= (p.Phe2794=) c.6556T= (p.Phe2186=) n.67T= c.6559T= (p.Phe2187=) n.4822T= c.7780T= (p.Phe2594=) c.7159T= (p.Phe2387=) c.7879T= (p.Phe2627=) c.8377T= (p.Phe2793=) c.5974T= (p.Phe1992=) | |
2 | g.237340536A>C | CA2187565 | COL6A3 | c.1025T>G c.7762T>G (p.Phe2588Val) c.383T>G n.647T>G c.8380T>G (p.Phe2794Val) c.6556T>G (p.Phe2186Val) n.67T>G c.6559T>G (p.Phe2187Val) n.4822T>G c.7780T>G (p.Phe2594Val) c.7159T>G (p.Phe2387Val) c.7879T>G (p.Phe2627Val) c.8377T>G (p.Phe2793Val) c.5974T>G (p.Phe1992Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340536A>G | CA351194896 | COL6A3 | c.1025T>C c.7762T>C (p.Phe2588Leu) c.383T>C n.647T>C c.8380T>C (p.Phe2794Leu) c.6556T>C (p.Phe2186Leu) n.67T>C c.6559T>C (p.Phe2187Leu) n.4822T>C c.7780T>C (p.Phe2594Leu) c.7159T>C (p.Phe2387Leu) c.7879T>C (p.Phe2627Leu) c.8377T>C (p.Phe2793Leu) c.5974T>C (p.Phe1992Leu) | |
2 | g.237340536A>T | CA351194899 | COL6A3 | c.1025T>A c.7762T>A (p.Phe2588Ile) c.383T>A n.647T>A c.8380T>A (p.Phe2794Ile) c.6556T>A (p.Phe2186Ile) n.67T>A c.6559T>A (p.Phe2187Ile) n.4822T>A c.7780T>A (p.Phe2594Ile) c.7159T>A (p.Phe2387Ile) c.7879T>A (p.Phe2627Ile) c.8377T>A (p.Phe2793Ile) c.5974T>A (p.Phe1992Ile) | |
2 | g.237340536_237340539delinsAGAC | CA1337608556 | COL6A3 | c.1022_1025delinsGTCT c.7759_7762delinsGTCT (p.Val2587=) c.380_383delinsGTCT n.644_647delinsGTCT c.8377_8380delinsGTCT (p.Val2793=) c.6553_6556delinsGTCT (p.Val2185=) n.64_67delinsGTCT c.6556_6559delinsGTCT (p.Val2186=) n.4819_4822delinsGTCT c.7777_7780delinsGTCT (p.Val2593=) c.7156_7159delinsGTCT (p.Val2386=) c.7876_7879delinsGTCT (p.Val2626=) c.8374_8377delinsGTCT (p.Val2792=) c.5971_5974delinsGTCT (p.Val1991=) | |
2 | g.237340537G>A | CA431675135 | COL6A3 | c.1024C>T c.7761C>T (p.Val2587=) c.382C>T n.646C>T c.8379C>T (p.Val2793=) c.6555C>T (p.Val2185=) n.66C>T c.6558C>T (p.Val2186=) n.4821C>T c.7779C>T (p.Val2593=) c.7158C>T (p.Val2386=) c.7878C>T (p.Val2626=) c.8376C>T (p.Val2792=) c.5973C>T (p.Val1991=) | |
2 | g.237340537G>C | CA431675133 | COL6A3 | c.1024C>G c.7761C>G (p.Val2587=) c.382C>G n.646C>G c.8379C>G (p.Val2793=) c.6555C>G (p.Val2185=) n.66C>G c.6558C>G (p.Val2186=) n.4821C>G c.7779C>G (p.Val2593=) c.7158C>G (p.Val2386=) c.7878C>G (p.Val2626=) c.8376C>G (p.Val2792=) c.5973C>G (p.Val1991=) | |
2 | g.237340537G>T | CA431675134 | COL6A3 | c.1024C>A c.7761C>A (p.Val2587=) c.382C>A n.646C>A c.8379C>A (p.Val2793=) c.6555C>A (p.Val2185=) n.66C>A c.6558C>A (p.Val2186=) n.4821C>A c.7779C>A (p.Val2593=) c.7158C>A (p.Val2386=) c.7878C>A (p.Val2626=) c.8376C>A (p.Val2792=) c.5973C>A (p.Val1991=) | |
2 | g.237340538_237340540del | CA540461457 | COL6A3 | c.1022_1024del c.7759_7761del (p.Val2587del) c.380_382del n.644_646del c.8377_8379del (p.Val2793del) c.6553_6555del (p.Val2185del) n.64_66del c.6556_6558del (p.Val2186del) n.4819_4821del c.7777_7779del (p.Val2593del) c.7156_7158del (p.Val2386del) c.7876_7878del (p.Val2626del) c.8374_8376del (p.Val2792del) c.5971_5973del (p.Val1991del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237340538A>C | CA351194904 | COL6A3 | c.1023T>G c.7760T>G (p.Val2587Gly) c.381T>G n.645T>G c.8378T>G (p.Val2793Gly) c.6554T>G (p.Val2185Gly) n.65T>G c.6557T>G (p.Val2186Gly) n.4820T>G c.7778T>G (p.Val2593Gly) c.7157T>G (p.Val2386Gly) c.7877T>G (p.Val2626Gly) c.8375T>G (p.Val2792Gly) c.5972T>G (p.Val1991Gly) | |
2 | g.237340538A>G | CA351194906 | COL6A3 | c.1023T>C c.7760T>C (p.Val2587Ala) c.381T>C n.645T>C c.8378T>C (p.Val2793Ala) c.6554T>C (p.Val2185Ala) n.65T>C c.6557T>C (p.Val2186Ala) n.4820T>C c.7778T>C (p.Val2593Ala) c.7157T>C (p.Val2386Ala) c.7877T>C (p.Val2626Ala) c.8375T>C (p.Val2792Ala) c.5972T>C (p.Val1991Ala) | |
2 | g.237340538A>T | CA351194908 | COL6A3 | c.1023T>A c.7760T>A (p.Val2587Asp) c.381T>A n.645T>A c.8378T>A (p.Val2793Asp) c.6554T>A (p.Val2185Asp) n.65T>A c.6557T>A (p.Val2186Asp) n.4820T>A c.7778T>A (p.Val2593Asp) c.7157T>A (p.Val2386Asp) c.7877T>A (p.Val2626Asp) c.8375T>A (p.Val2792Asp) c.5972T>A (p.Val1991Asp) | |
2 | g.237340539C>A | CA351194911 | COL6A3 | c.1022G>T c.7759G>T (p.Val2587Phe) c.380G>T n.644G>T c.8377G>T (p.Val2793Phe) c.6553G>T (p.Val2185Phe) n.64G>T c.6556G>T (p.Val2186Phe) n.4819G>T c.7777G>T (p.Val2593Phe) c.7156G>T (p.Val2386Phe) c.7876G>T (p.Val2626Phe) c.8374G>T (p.Val2792Phe) c.5971G>T (p.Val1991Phe) | |
2 | g.237340539C= | CA1337608563 | COL6A3 | c.1022G= c.7759G= (p.Val2587=) c.380G= n.644G= c.8377G= (p.Val2793=) c.6553G= (p.Val2185=) n.64G= c.6556G= (p.Val2186=) n.4819G= c.7777G= (p.Val2593=) c.7156G= (p.Val2386=) c.7876G= (p.Val2626=) c.8374G= (p.Val2792=) c.5971G= (p.Val1991=) | |
2 | g.237340539C>G | CA351194913 | COL6A3 | c.1022G>C c.7759G>C (p.Val2587Leu) c.380G>C n.644G>C c.8377G>C (p.Val2793Leu) c.6553G>C (p.Val2185Leu) n.64G>C c.6556G>C (p.Val2186Leu) n.4819G>C c.7777G>C (p.Val2593Leu) c.7156G>C (p.Val2386Leu) c.7876G>C (p.Val2626Leu) c.8374G>C (p.Val2792Leu) c.5971G>C (p.Val1991Leu) | |
2 | g.237340539C>T | CA2187566 | COL6A3 | c.1022G>A c.7759G>A (p.Val2587Ile) c.380G>A n.644G>A c.8377G>A (p.Val2793Ile) c.6553G>A (p.Val2185Ile) n.64G>A c.6556G>A (p.Val2186Ile) n.4819G>A c.7777G>A (p.Val2593Ile) c.7156G>A (p.Val2386Ile) c.7876G>A (p.Val2626Ile) c.8374G>A (p.Val2792Ile) c.5971G>A (p.Val1991Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340540G>A | CA2187567 | COL6A3 | c.1021C>T c.7758C>T (p.Asp2586=) c.379C>T n.643C>T c.8376C>T (p.Asp2792=) c.6552C>T (p.Asp2184=) n.63C>T c.6555C>T (p.Asp2185=) n.4818C>T c.7776C>T (p.Asp2592=) c.7155C>T (p.Asp2385=) c.7875C>T (p.Asp2625=) c.8373C>T (p.Asp2791=) c.5970C>T (p.Asp1990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340540G>C | CA351194921 | COL6A3 | c.1021C>G c.7758C>G (p.Asp2586Glu) c.379C>G n.643C>G c.8376C>G (p.Asp2792Glu) c.6552C>G (p.Asp2184Glu) n.63C>G c.6555C>G (p.Asp2185Glu) n.4818C>G c.7776C>G (p.Asp2592Glu) c.7155C>G (p.Asp2385Glu) c.7875C>G (p.Asp2625Glu) c.8373C>G (p.Asp2791Glu) c.5970C>G (p.Asp1990Glu) | |
2 | g.237340540G= | CA1337608568 | COL6A3 | c.1021C= c.7758C= (p.Asp2586=) c.379C= n.643C= c.8376C= (p.Asp2792=) c.6552C= (p.Asp2184=) n.63C= c.6555C= (p.Asp2185=) n.4818C= c.7776C= (p.Asp2592=) c.7155C= (p.Asp2385=) c.7875C= (p.Asp2625=) c.8373C= (p.Asp2791=) c.5970C= (p.Asp1990=) | |
2 | g.237340540G>T | CA351194919 | COL6A3 | c.1021C>A c.7758C>A (p.Asp2586Glu) c.379C>A n.643C>A c.8376C>A (p.Asp2792Glu) c.6552C>A (p.Asp2184Glu) n.63C>A c.6555C>A (p.Asp2185Glu) n.4818C>A c.7776C>A (p.Asp2592Glu) c.7155C>A (p.Asp2385Glu) c.7875C>A (p.Asp2625Glu) c.8373C>A (p.Asp2791Glu) c.5970C>A (p.Asp1990Glu) | |
2 | g.237340541T>A | CA351194925 | COL6A3 | c.1020A>T c.7757A>T (p.Asp2586Val) c.378A>T n.642A>T c.8375A>T (p.Asp2792Val) c.6551A>T (p.Asp2184Val) n.62A>T c.6554A>T (p.Asp2185Val) n.4817A>T c.7775A>T (p.Asp2592Val) c.7154A>T (p.Asp2385Val) c.7874A>T (p.Asp2625Val) c.8372A>T (p.Asp2791Val) c.5969A>T (p.Asp1990Val) | |
2 | g.237340541T>C | CA10606649 | COL6A3 | c.1020A>G c.7757A>G (p.Asp2586Gly) c.378A>G n.642A>G c.8375A>G (p.Asp2792Gly) c.6551A>G (p.Asp2184Gly) n.62A>G c.6554A>G (p.Asp2185Gly) n.4817A>G c.7775A>G (p.Asp2592Gly) c.7154A>G (p.Asp2385Gly) c.7874A>G (p.Asp2625Gly) c.8372A>G (p.Asp2791Gly) c.5969A>G (p.Asp1990Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237340541T>G | CA351194928 | COL6A3 | c.1020A>C c.7757A>C (p.Asp2586Ala) c.378A>C n.642A>C c.8375A>C (p.Asp2792Ala) c.6551A>C (p.Asp2184Ala) n.62A>C c.6554A>C (p.Asp2185Ala) n.4817A>C c.7775A>C (p.Asp2592Ala) c.7154A>C (p.Asp2385Ala) c.7874A>C (p.Asp2625Ala) c.8372A>C (p.Asp2791Ala) c.5969A>C (p.Asp1990Ala) | |
2 | g.237340541T= | CA1337608574 | COL6A3 | c.1020A= c.7757A= (p.Asp2586=) c.378A= n.642A= c.8375A= (p.Asp2792=) c.6551A= (p.Asp2184=) n.62A= c.6554A= (p.Asp2185=) n.4817A= c.7775A= (p.Asp2592=) c.7154A= (p.Asp2385=) c.7874A= (p.Asp2625=) c.8372A= (p.Asp2791=) c.5969A= (p.Asp1990=) | |
2 | g.237340542del | CA2577289370 | COL6A3 | c.1019del c.7756del (p.Asp2586ThrfsTer6) c.377del n.641del c.8374del (p.Asp2792ThrfsTer6) c.6550del (p.Asp2184ThrfsTer6) n.61del c.6553del (p.Asp2185ThrfsTer6) n.4816del c.7774del (p.Asp2592ThrfsTer6) c.7153del (p.Asp2385ThrfsTer6) c.7873del (p.Asp2625ThrfsTer6) c.8371del (p.Asp2791ThrfsTer6) c.5968del (p.Asp1990ThrfsTer6) | |
2 | g.237340542C>A | CA351194930 | COL6A3 | c.1019G>T c.7756G>T (p.Asp2586Tyr) c.377G>T n.641G>T c.8374G>T (p.Asp2792Tyr) c.6550G>T (p.Asp2184Tyr) n.61G>T c.6553G>T (p.Asp2185Tyr) n.4816G>T c.7774G>T (p.Asp2592Tyr) c.7153G>T (p.Asp2385Tyr) c.7873G>T (p.Asp2625Tyr) c.8371G>T (p.Asp2791Tyr) c.5968G>T (p.Asp1990Tyr) | |
2 | g.237340542C= | CA1337608578 | COL6A3 | c.1019G= c.7756G= (p.Asp2586=) c.377G= n.641G= c.8374G= (p.Asp2792=) c.6550G= (p.Asp2184=) n.61G= c.6553G= (p.Asp2185=) n.4816G= c.7774G= (p.Asp2592=) c.7153G= (p.Asp2385=) c.7873G= (p.Asp2625=) c.8371G= (p.Asp2791=) c.5968G= (p.Asp1990=) | |
2 | g.237340542C>G | CA351194931 | COL6A3 | c.1019G>C c.7756G>C (p.Asp2586His) c.377G>C n.641G>C c.8374G>C (p.Asp2792His) c.6550G>C (p.Asp2184His) n.61G>C c.6553G>C (p.Asp2185His) n.4816G>C c.7774G>C (p.Asp2592His) c.7153G>C (p.Asp2385His) c.7873G>C (p.Asp2625His) c.8371G>C (p.Asp2791His) c.5968G>C (p.Asp1990His) | |
2 | g.237340542C>T | CA2187568 | COL6A3 | c.1019G>A c.7756G>A (p.Asp2586Asn) c.377G>A n.641G>A c.8374G>A (p.Asp2792Asn) c.6550G>A (p.Asp2184Asn) n.61G>A c.6553G>A (p.Asp2185Asn) n.4816G>A c.7774G>A (p.Asp2592Asn) c.7153G>A (p.Asp2385Asn) c.7873G>A (p.Asp2625Asn) c.8371G>A (p.Asp2791Asn) c.5968G>A (p.Asp1990Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340543G>A | CA2187569 | COL6A3 | c.1018C>T c.7755C>T (p.Asn2585=) c.376C>T n.640C>T c.8373C>T (p.Asn2791=) c.6549C>T (p.Asn2183=) n.60C>T c.6552C>T (p.Asn2184=) n.4815C>T c.7773C>T (p.Asn2591=) c.7152C>T (p.Asn2384=) c.7872C>T (p.Asn2624=) c.8370C>T (p.Asn2790=) c.5967C>T (p.Asn1989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340543G>C | CA351194935 | COL6A3 | c.1018C>G c.7755C>G (p.Asn2585Lys) c.376C>G n.640C>G c.8373C>G (p.Asn2791Lys) c.6549C>G (p.Asn2183Lys) n.60C>G c.6552C>G (p.Asn2184Lys) n.4815C>G c.7773C>G (p.Asn2591Lys) c.7152C>G (p.Asn2384Lys) c.7872C>G (p.Asn2624Lys) c.8370C>G (p.Asn2790Lys) c.5967C>G (p.Asn1989Lys) | COSMIC |
2 | g.237340543G= | CA1337608584 | COL6A3 | c.1018C= c.7755C= (p.Asn2585=) c.376C= n.640C= c.8373C= (p.Asn2791=) c.6549C= (p.Asn2183=) n.60C= c.6552C= (p.Asn2184=) n.4815C= c.7773C= (p.Asn2591=) c.7152C= (p.Asn2384=) c.7872C= (p.Asn2624=) c.8370C= (p.Asn2790=) c.5967C= (p.Asn1989=) | |
2 | g.237340543G>T | CA2187570 | COL6A3 | c.1018C>A c.7755C>A (p.Asn2585Lys) c.376C>A n.640C>A c.8373C>A (p.Asn2791Lys) c.6549C>A (p.Asn2183Lys) n.60C>A c.6552C>A (p.Asn2184Lys) n.4815C>A c.7773C>A (p.Asn2591Lys) c.7152C>A (p.Asn2384Lys) c.7872C>A (p.Asn2624Lys) c.8370C>A (p.Asn2790Lys) c.5967C>A (p.Asn1989Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340544T>A | CA351194940 | COL6A3 | c.1017A>T c.7754A>T (p.Asn2585Ile) c.375A>T n.639A>T c.8372A>T (p.Asn2791Ile) c.6548A>T (p.Asn2183Ile) n.59A>T c.6551A>T (p.Asn2184Ile) n.4814A>T c.7772A>T (p.Asn2591Ile) c.7151A>T (p.Asn2384Ile) c.7871A>T (p.Asn2624Ile) c.8369A>T (p.Asn2790Ile) c.5966A>T (p.Asn1989Ile) | |
2 | g.237340544T>C | CA351194942 | COL6A3 | c.1017A>G c.7754A>G (p.Asn2585Ser) c.375A>G n.639A>G c.8372A>G (p.Asn2791Ser) c.6548A>G (p.Asn2183Ser) n.59A>G c.6551A>G (p.Asn2184Ser) n.4814A>G c.7772A>G (p.Asn2591Ser) c.7151A>G (p.Asn2384Ser) c.7871A>G (p.Asn2624Ser) c.8369A>G (p.Asn2790Ser) c.5966A>G (p.Asn1989Ser) | |
2 | g.237340544T>G | CA351194945 | COL6A3 | c.1017A>C c.7754A>C (p.Asn2585Thr) c.375A>C n.639A>C c.8372A>C (p.Asn2791Thr) c.6548A>C (p.Asn2183Thr) n.59A>C c.6551A>C (p.Asn2184Thr) n.4814A>C c.7772A>C (p.Asn2591Thr) c.7151A>C (p.Asn2384Thr) c.7871A>C (p.Asn2624Thr) c.8369A>C (p.Asn2790Thr) c.5966A>C (p.Asn1989Thr) | |
2 | g.237340545T>A | CA351194955 | COL6A3 | c.1016A>T c.7753A>T (p.Asn2585Tyr) c.374A>T n.638A>T c.8371A>T (p.Asn2791Tyr) c.6547A>T (p.Asn2183Tyr) n.58A>T c.6550A>T (p.Asn2184Tyr) n.4813A>T c.7771A>T (p.Asn2591Tyr) c.7150A>T (p.Asn2384Tyr) c.7870A>T (p.Asn2624Tyr) c.8368A>T (p.Asn2790Tyr) c.5965A>T (p.Asn1989Tyr) | |
2 | g.237340545T>C | CA351194951 | COL6A3 | c.1016A>G c.7753A>G (p.Asn2585Asp) c.374A>G n.638A>G c.8371A>G (p.Asn2791Asp) c.6547A>G (p.Asn2183Asp) n.58A>G c.6550A>G (p.Asn2184Asp) n.4813A>G c.7771A>G (p.Asn2591Asp) c.7150A>G (p.Asn2384Asp) c.7870A>G (p.Asn2624Asp) c.8368A>G (p.Asn2790Asp) c.5965A>G (p.Asn1989Asp) | |
2 | g.237340545T>G | CA351194953 | COL6A3 | c.1016A>C c.7753A>C (p.Asn2585His) c.374A>C n.638A>C c.8371A>C (p.Asn2791His) c.6547A>C (p.Asn2183His) n.58A>C c.6550A>C (p.Asn2184His) n.4813A>C c.7771A>C (p.Asn2591His) c.7150A>C (p.Asn2384His) c.7870A>C (p.Asn2624His) c.8368A>C (p.Asn2790His) c.5965A>C (p.Asn1989His) | |
2 | g.237340546T>A | CA431675136 | COL6A3 | c.1015A>T c.7752A>T (p.Pro2584=) c.373A>T n.637A>T c.8370A>T (p.Pro2790=) c.6546A>T (p.Pro2182=) n.57A>T c.6549A>T (p.Pro2183=) n.4812A>T c.7770A>T (p.Pro2590=) c.7149A>T (p.Pro2383=) c.7869A>T (p.Pro2623=) c.8367A>T (p.Pro2789=) c.5964A>T (p.Pro1988=) | |
2 | g.237340546T>C | CA431675138 | COL6A3 | c.1015A>G c.7752A>G (p.Pro2584=) c.373A>G n.637A>G c.8370A>G (p.Pro2790=) c.6546A>G (p.Pro2182=) n.57A>G c.6549A>G (p.Pro2183=) n.4812A>G c.7770A>G (p.Pro2590=) c.7149A>G (p.Pro2383=) c.7869A>G (p.Pro2623=) c.8367A>G (p.Pro2789=) c.5964A>G (p.Pro1988=) | |
2 | g.237340546T>G | CA431675137 | COL6A3 | c.1015A>C c.7752A>C (p.Pro2584=) c.373A>C n.637A>C c.8370A>C (p.Pro2790=) c.6546A>C (p.Pro2182=) n.57A>C c.6549A>C (p.Pro2183=) n.4812A>C c.7770A>C (p.Pro2590=) c.7149A>C (p.Pro2383=) c.7869A>C (p.Pro2623=) c.8367A>C (p.Pro2789=) c.5964A>C (p.Pro1988=) | |
2 | g.237340547G>A | CA351194960 | COL6A3 | c.1014C>T c.7751C>T (p.Pro2584Leu) c.372C>T n.636C>T c.8369C>T (p.Pro2790Leu) c.6545C>T (p.Pro2182Leu) n.56C>T c.6548C>T (p.Pro2183Leu) n.4811C>T c.7769C>T (p.Pro2590Leu) c.7148C>T (p.Pro2383Leu) c.7868C>T (p.Pro2623Leu) c.8366C>T (p.Pro2789Leu) c.5963C>T (p.Pro1988Leu) | |
2 | g.237340547G>C | CA351194963 | COL6A3 | c.1014C>G c.7751C>G (p.Pro2584Arg) c.372C>G n.636C>G c.8369C>G (p.Pro2790Arg) c.6545C>G (p.Pro2182Arg) n.56C>G c.6548C>G (p.Pro2183Arg) n.4811C>G c.7769C>G (p.Pro2590Arg) c.7148C>G (p.Pro2383Arg) c.7868C>G (p.Pro2623Arg) c.8366C>G (p.Pro2789Arg) c.5963C>G (p.Pro1988Arg) | |
2 | g.237340547G>T | CA351194966 | COL6A3 | c.1014C>A c.7751C>A (p.Pro2584Gln) c.372C>A n.636C>A c.8369C>A (p.Pro2790Gln) c.6545C>A (p.Pro2182Gln) n.56C>A c.6548C>A (p.Pro2183Gln) n.4811C>A c.7769C>A (p.Pro2590Gln) c.7148C>A (p.Pro2383Gln) c.7868C>A (p.Pro2623Gln) c.8366C>A (p.Pro2789Gln) c.5963C>A (p.Pro1988Gln) | |
2 | g.237340548G>A | CA351194970 | COL6A3 | c.1013C>T c.7750C>T (p.Pro2584Ser) c.371C>T n.635C>T c.8368C>T (p.Pro2790Ser) c.6544C>T (p.Pro2182Ser) n.55C>T c.6547C>T (p.Pro2183Ser) n.4810C>T c.7768C>T (p.Pro2590Ser) c.7147C>T (p.Pro2383Ser) c.7867C>T (p.Pro2623Ser) c.8365C>T (p.Pro2789Ser) c.5962C>T (p.Pro1988Ser) | dbSNP |
2 | g.237340548G>C | CA351194972 | COL6A3 | c.1013C>G c.7750C>G (p.Pro2584Ala) c.371C>G n.635C>G c.8368C>G (p.Pro2790Ala) c.6544C>G (p.Pro2182Ala) n.55C>G c.6547C>G (p.Pro2183Ala) n.4810C>G c.7768C>G (p.Pro2590Ala) c.7147C>G (p.Pro2383Ala) c.7867C>G (p.Pro2623Ala) c.8365C>G (p.Pro2789Ala) c.5962C>G (p.Pro1988Ala) | |
2 | g.237340548G= | CA1337608587 | COL6A3 | c.1013C= c.7750C= (p.Pro2584=) c.371C= n.635C= c.8368C= (p.Pro2790=) c.6544C= (p.Pro2182=) n.55C= c.6547C= (p.Pro2183=) n.4810C= c.7768C= (p.Pro2590=) c.7147C= (p.Pro2383=) c.7867C= (p.Pro2623=) c.8365C= (p.Pro2789=) c.5962C= (p.Pro1988=) | |
2 | g.237340548G>T | CA351194975 | COL6A3 | c.1013C>A c.7750C>A (p.Pro2584Thr) c.371C>A n.635C>A c.8368C>A (p.Pro2790Thr) c.6544C>A (p.Pro2182Thr) n.55C>A c.6547C>A (p.Pro2183Thr) n.4810C>A c.7768C>A (p.Pro2590Thr) c.7147C>A (p.Pro2383Thr) c.7867C>A (p.Pro2623Thr) c.8365C>A (p.Pro2789Thr) c.5962C>A (p.Pro1988Thr) | |
2 | g.237340549C>A | CA351194976 | COL6A3 | c.1012G>T c.7749G>T (p.Glu2583Asp) c.370G>T n.634G>T c.8367G>T (p.Glu2789Asp) c.6543G>T (p.Glu2181Asp) n.54G>T c.6546G>T (p.Glu2182Asp) n.4809G>T c.7767G>T (p.Glu2589Asp) c.7146G>T (p.Glu2382Asp) c.7866G>T (p.Glu2622Asp) c.8364G>T (p.Glu2788Asp) c.5961G>T (p.Glu1987Asp) | |
2 | g.237340549C>G | CA351194978 | COL6A3 | c.1012G>C c.7749G>C (p.Glu2583Asp) c.370G>C n.634G>C c.8367G>C (p.Glu2789Asp) c.6543G>C (p.Glu2181Asp) n.54G>C c.6546G>C (p.Glu2182Asp) n.4809G>C c.7767G>C (p.Glu2589Asp) c.7146G>C (p.Glu2382Asp) c.7866G>C (p.Glu2622Asp) c.8364G>C (p.Glu2788Asp) c.5961G>C (p.Glu1987Asp) | |
2 | g.237340549C>T | CA431701409 | COL6A3 | c.1012G>A c.7749G>A (p.Glu2583=) c.370G>A n.634G>A c.8367G>A (p.Glu2789=) c.6543G>A (p.Glu2181=) n.54G>A c.6546G>A (p.Glu2182=) n.4809G>A c.7767G>A (p.Glu2589=) c.7146G>A (p.Glu2382=) c.7866G>A (p.Glu2622=) c.8364G>A (p.Glu2788=) c.5961G>A (p.Glu1987=) | |
2 | g.237340550T>A | CA351194983 | COL6A3 | c.1011A>T c.7748A>T (p.Glu2583Val) c.369A>T n.633A>T c.8366A>T (p.Glu2789Val) c.6542A>T (p.Glu2181Val) n.53A>T c.6545A>T (p.Glu2182Val) n.4808A>T c.7766A>T (p.Glu2589Val) c.7145A>T (p.Glu2382Val) c.7865A>T (p.Glu2622Val) c.8363A>T (p.Glu2788Val) c.5960A>T (p.Glu1987Val) | |
2 | g.237340550T>C | CA351194986 | COL6A3 | c.1011A>G c.7748A>G (p.Glu2583Gly) c.369A>G n.633A>G c.8366A>G (p.Glu2789Gly) c.6542A>G (p.Glu2181Gly) n.53A>G c.6545A>G (p.Glu2182Gly) n.4808A>G c.7766A>G (p.Glu2589Gly) c.7145A>G (p.Glu2382Gly) c.7865A>G (p.Glu2622Gly) c.8363A>G (p.Glu2788Gly) c.5960A>G (p.Glu1987Gly) | |
2 | g.237340550T>G | CA351194988 | COL6A3 | c.1011A>C c.7748A>C (p.Glu2583Ala) c.369A>C n.633A>C c.8366A>C (p.Glu2789Ala) c.6542A>C (p.Glu2181Ala) n.53A>C c.6545A>C (p.Glu2182Ala) n.4808A>C c.7766A>C (p.Glu2589Ala) c.7145A>C (p.Glu2382Ala) c.7865A>C (p.Glu2622Ala) c.8363A>C (p.Glu2788Ala) c.5960A>C (p.Glu1987Ala) | |
2 | g.237340551C>A | CA351194992 | COL6A3 | c.1010G>T c.7747G>T (p.Glu2583Ter) c.368G>T n.632G>T c.8365G>T (p.Glu2789Ter) c.6541G>T (p.Glu2181Ter) n.52G>T c.6544G>T (p.Glu2182Ter) n.4807G>T c.7765G>T (p.Glu2589Ter) c.7144G>T (p.Glu2382Ter) c.7864G>T (p.Glu2622Ter) c.8362G>T (p.Glu2788Ter) c.5959G>T (p.Glu1987Ter) | |
2 | g.237340551C= | CA1337608590 | COL6A3 | c.1010G= c.7747G= (p.Glu2583=) c.368G= n.632G= c.8365G= (p.Glu2789=) c.6541G= (p.Glu2181=) n.52G= c.6544G= (p.Glu2182=) n.4807G= c.7765G= (p.Glu2589=) c.7144G= (p.Glu2382=) c.7864G= (p.Glu2622=) c.8362G= (p.Glu2788=) c.5959G= (p.Glu1987=) | |
2 | g.237340551C>G | CA351194994 | COL6A3 | c.1010G>C c.7747G>C (p.Glu2583Gln) c.368G>C n.632G>C c.8365G>C (p.Glu2789Gln) c.6541G>C (p.Glu2181Gln) n.52G>C c.6544G>C (p.Glu2182Gln) n.4807G>C c.7765G>C (p.Glu2589Gln) c.7144G>C (p.Glu2382Gln) c.7864G>C (p.Glu2622Gln) c.8362G>C (p.Glu2788Gln) c.5959G>C (p.Glu1987Gln) | |
2 | g.237340551C>T | CA351194990 | COL6A3 | c.1010G>A c.7747G>A (p.Glu2583Lys) c.368G>A n.632G>A c.8365G>A (p.Glu2789Lys) c.6541G>A (p.Glu2181Lys) n.52G>A c.6544G>A (p.Glu2182Lys) n.4807G>A c.7765G>A (p.Glu2589Lys) c.7144G>A (p.Glu2382Lys) c.7864G>A (p.Glu2622Lys) c.8362G>A (p.Glu2788Lys) c.5959G>A (p.Glu1987Lys) | dbSNP |
2 | g.237340552A>C | CA351194998 | COL6A3 | c.1009T>G c.7746T>G (p.Ser2582Arg) c.367T>G n.631T>G c.8364T>G (p.Ser2788Arg) c.6540T>G (p.Ser2180Arg) n.51T>G c.6543T>G (p.Ser2181Arg) n.4806T>G c.7764T>G (p.Ser2588Arg) c.7143T>G (p.Ser2381Arg) c.7863T>G (p.Ser2621Arg) c.8361T>G (p.Ser2787Arg) c.5958T>G (p.Ser1986Arg) | |
2 | g.237340552A>G | CA431701424 | COL6A3 | c.1009T>C c.7746T>C (p.Ser2582=) c.367T>C n.631T>C c.8364T>C (p.Ser2788=) c.6540T>C (p.Ser2180=) n.51T>C c.6543T>C (p.Ser2181=) n.4806T>C c.7764T>C (p.Ser2588=) c.7143T>C (p.Ser2381=) c.7863T>C (p.Ser2621=) c.8361T>C (p.Ser2787=) c.5958T>C (p.Ser1986=) | |
2 | g.237340552A>T | CA351194996 | COL6A3 | c.1009T>A c.7746T>A (p.Ser2582Arg) c.367T>A n.631T>A c.8364T>A (p.Ser2788Arg) c.6540T>A (p.Ser2180Arg) n.51T>A c.6543T>A (p.Ser2181Arg) n.4806T>A c.7764T>A (p.Ser2588Arg) c.7143T>A (p.Ser2381Arg) c.7863T>A (p.Ser2621Arg) c.8361T>A (p.Ser2787Arg) c.5958T>A (p.Ser1986Arg) | |
2 | g.237340553C>A | CA351195004 | COL6A3 | c.1008G>T c.7745G>T (p.Ser2582Ile) c.366G>T n.630G>T c.8363G>T (p.Ser2788Ile) c.6539G>T (p.Ser2180Ile) n.50G>T c.6542G>T (p.Ser2181Ile) n.4805G>T c.7763G>T (p.Ser2588Ile) c.7142G>T (p.Ser2381Ile) c.7862G>T (p.Ser2621Ile) c.8360G>T (p.Ser2787Ile) c.5957G>T (p.Ser1986Ile) | |
2 | g.237340553C>G | CA351195006 | COL6A3 | c.1008G>C c.7745G>C (p.Ser2582Thr) c.366G>C n.630G>C c.8363G>C (p.Ser2788Thr) c.6539G>C (p.Ser2180Thr) n.50G>C c.6542G>C (p.Ser2181Thr) n.4805G>C c.7763G>C (p.Ser2588Thr) c.7142G>C (p.Ser2381Thr) c.7862G>C (p.Ser2621Thr) c.8360G>C (p.Ser2787Thr) c.5957G>C (p.Ser1986Thr) | |
2 | g.237340553C>T | CA351195009 | COL6A3 | c.1008G>A c.7745G>A (p.Ser2582Asn) c.366G>A n.630G>A c.8363G>A (p.Ser2788Asn) c.6539G>A (p.Ser2180Asn) n.50G>A c.6542G>A (p.Ser2181Asn) n.4805G>A c.7763G>A (p.Ser2588Asn) c.7142G>A (p.Ser2381Asn) c.7862G>A (p.Ser2621Asn) c.8360G>A (p.Ser2787Asn) c.5957G>A (p.Ser1986Asn) | |
2 | g.237340554T>A | CA351195012 | COL6A3 | c.1007A>T c.7744A>T (p.Ser2582Cys) c.365A>T n.629A>T c.8362A>T (p.Ser2788Cys) c.6538A>T (p.Ser2180Cys) n.49A>T c.6541A>T (p.Ser2181Cys) n.4804A>T c.7762A>T (p.Ser2588Cys) c.7141A>T (p.Ser2381Cys) c.7861A>T (p.Ser2621Cys) c.8359A>T (p.Ser2787Cys) c.5956A>T (p.Ser1986Cys) | |
2 | g.237340554T>C | CA351195015 | COL6A3 | c.1007A>G c.7744A>G (p.Ser2582Gly) c.365A>G n.629A>G c.8362A>G (p.Ser2788Gly) c.6538A>G (p.Ser2180Gly) n.49A>G c.6541A>G (p.Ser2181Gly) n.4804A>G c.7762A>G (p.Ser2588Gly) c.7141A>G (p.Ser2381Gly) c.7861A>G (p.Ser2621Gly) c.8359A>G (p.Ser2787Gly) c.5956A>G (p.Ser1986Gly) | dbSNP |
2 | g.237340554T>G | CA351195017 | COL6A3 | c.1007A>C c.7744A>C (p.Ser2582Arg) c.365A>C n.629A>C c.8362A>C (p.Ser2788Arg) c.6538A>C (p.Ser2180Arg) n.49A>C c.6541A>C (p.Ser2181Arg) n.4804A>C c.7762A>C (p.Ser2588Arg) c.7141A>C (p.Ser2381Arg) c.7861A>C (p.Ser2621Arg) c.8359A>C (p.Ser2787Arg) c.5956A>C (p.Ser1986Arg) | gnomAD v4 |
2 | g.237340554T= | CA1337608594 | COL6A3 | c.1007A= c.7744A= (p.Ser2582=) c.365A= n.629A= c.8362A= (p.Ser2788=) c.6538A= (p.Ser2180=) n.49A= c.6541A= (p.Ser2181=) n.4804A= c.7762A= (p.Ser2588=) c.7141A= (p.Ser2381=) c.7861A= (p.Ser2621=) c.8359A= (p.Ser2787=) c.5956A= (p.Ser1986=) | |
2 | g.237340555G>A | CA431701446 | COL6A3 | c.1006C>T c.7743C>T (p.Ala2581=) c.364C>T n.628C>T c.8361C>T (p.Ala2787=) c.6537C>T (p.Ala2179=) n.48C>T c.6540C>T (p.Ala2180=) n.4803C>T c.7761C>T (p.Ala2587=) c.7140C>T (p.Ala2380=) c.7860C>T (p.Ala2620=) c.8358C>T (p.Ala2786=) c.5955C>T (p.Ala1985=) | gnomAD v4 |
2 | g.237340555G>C | CA431701451 | COL6A3 | c.1006C>G c.7743C>G (p.Ala2581=) c.364C>G n.628C>G c.8361C>G (p.Ala2787=) c.6537C>G (p.Ala2179=) n.48C>G c.6540C>G (p.Ala2180=) n.4803C>G c.7761C>G (p.Ala2587=) c.7140C>G (p.Ala2380=) c.7860C>G (p.Ala2620=) c.8358C>G (p.Ala2786=) c.5955C>G (p.Ala1985=) | |
2 | g.237340555G>T | CA431701456 | COL6A3 | c.1006C>A c.7743C>A (p.Ala2581=) c.364C>A n.628C>A c.8361C>A (p.Ala2787=) c.6537C>A (p.Ala2179=) n.48C>A c.6540C>A (p.Ala2180=) n.4803C>A c.7761C>A (p.Ala2587=) c.7140C>A (p.Ala2380=) c.7860C>A (p.Ala2620=) c.8358C>A (p.Ala2786=) c.5955C>A (p.Ala1985=) | |
2 | g.237340556G>A | CA351195021 | COL6A3 | c.1005C>T c.7742C>T (p.Ala2581Val) c.363C>T n.627C>T c.8360C>T (p.Ala2787Val) c.6536C>T (p.Ala2179Val) n.47C>T c.6539C>T (p.Ala2180Val) n.4802C>T c.7760C>T (p.Ala2587Val) c.7139C>T (p.Ala2380Val) c.7859C>T (p.Ala2620Val) c.8357C>T (p.Ala2786Val) c.5954C>T (p.Ala1985Val) | dbSNP gnomAD v2 |
2 | g.237340556G>C | CA351195024 | COL6A3 | c.1005C>G c.7742C>G (p.Ala2581Gly) c.363C>G n.627C>G c.8360C>G (p.Ala2787Gly) c.6536C>G (p.Ala2179Gly) n.47C>G c.6539C>G (p.Ala2180Gly) n.4802C>G c.7760C>G (p.Ala2587Gly) c.7139C>G (p.Ala2380Gly) c.7859C>G (p.Ala2620Gly) c.8357C>G (p.Ala2786Gly) c.5954C>G (p.Ala1985Gly) | gnomAD v4 |
2 | g.237340556G= | CA1337608598 | COL6A3 | c.1005C= c.7742C= (p.Ala2581=) c.363C= n.627C= c.8360C= (p.Ala2787=) c.6536C= (p.Ala2179=) n.47C= c.6539C= (p.Ala2180=) n.4802C= c.7760C= (p.Ala2587=) c.7139C= (p.Ala2380=) c.7859C= (p.Ala2620=) c.8357C= (p.Ala2786=) c.5954C= (p.Ala1985=) | |
2 | g.237340556G>T | CA351195027 | COL6A3 | c.1005C>A c.7742C>A (p.Ala2581Asp) c.363C>A n.627C>A c.8360C>A (p.Ala2787Asp) c.6536C>A (p.Ala2179Asp) n.47C>A c.6539C>A (p.Ala2180Asp) n.4802C>A c.7760C>A (p.Ala2587Asp) c.7139C>A (p.Ala2380Asp) c.7859C>A (p.Ala2620Asp) c.8357C>A (p.Ala2786Asp) c.5954C>A (p.Ala1985Asp) | |
2 | g.237340557C>A | CA351195029 | COL6A3 | c.1004G>T c.7741G>T (p.Ala2581Ser) c.362G>T n.626G>T c.8359G>T (p.Ala2787Ser) c.6535G>T (p.Ala2179Ser) n.46G>T c.6538G>T (p.Ala2180Ser) n.4801G>T c.7759G>T (p.Ala2587Ser) c.7138G>T (p.Ala2380Ser) c.7858G>T (p.Ala2620Ser) c.8356G>T (p.Ala2786Ser) c.5953G>T (p.Ala1985Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340557C= | CA1337608604 | COL6A3 | c.1004G= c.7741G= (p.Ala2581=) c.362G= n.626G= c.8359G= (p.Ala2787=) c.6535G= (p.Ala2179=) n.46G= c.6538G= (p.Ala2180=) n.4801G= c.7759G= (p.Ala2587=) c.7138G= (p.Ala2380=) c.7858G= (p.Ala2620=) c.8356G= (p.Ala2786=) c.5953G= (p.Ala1985=) | |
2 | g.237340557C>G | CA351195032 | COL6A3 | c.1004G>C c.7741G>C (p.Ala2581Pro) c.362G>C n.626G>C c.8359G>C (p.Ala2787Pro) c.6535G>C (p.Ala2179Pro) n.46G>C c.6538G>C (p.Ala2180Pro) n.4801G>C c.7759G>C (p.Ala2587Pro) c.7138G>C (p.Ala2380Pro) c.7858G>C (p.Ala2620Pro) c.8356G>C (p.Ala2786Pro) c.5953G>C (p.Ala1985Pro) | |
2 | g.237340557C>T | CA2187571 | COL6A3 | c.1004G>A c.7741G>A (p.Ala2581Thr) c.362G>A n.626G>A c.8359G>A (p.Ala2787Thr) c.6535G>A (p.Ala2179Thr) n.46G>A c.6538G>A (p.Ala2180Thr) n.4801G>A c.7759G>A (p.Ala2587Thr) c.7138G>A (p.Ala2380Thr) c.7858G>A (p.Ala2620Thr) c.8356G>A (p.Ala2786Thr) c.5953G>A (p.Ala1985Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237340558G>A | CA2187572 | COL6A3 | c.1003C>T c.7740C>T (p.Phe2580=) c.361C>T n.625C>T c.8358C>T (p.Phe2786=) c.6534C>T (p.Phe2178=) n.45C>T c.6537C>T (p.Phe2179=) n.4800C>T c.7758C>T (p.Phe2586=) c.7137C>T (p.Phe2379=) c.7857C>T (p.Phe2619=) c.8355C>T (p.Phe2785=) c.5952C>T (p.Phe1984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237340558G>C | CA351195039 | COL6A3 | c.1003C>G c.7740C>G (p.Phe2580Leu) c.361C>G n.625C>G c.8358C>G (p.Phe2786Leu) c.6534C>G (p.Phe2178Leu) n.45C>G c.6537C>G (p.Phe2179Leu) n.4800C>G c.7758C>G (p.Phe2586Leu) c.7137C>G (p.Phe2379Leu) c.7857C>G (p.Phe2619Leu) c.8355C>G (p.Phe2785Leu) c.5952C>G (p.Phe1984Leu) | |
2 | g.237340558G= | CA1337608613 | COL6A3 | c.1003C= c.7740C= (p.Phe2580=) c.361C= n.625C= c.8358C= (p.Phe2786=) c.6534C= (p.Phe2178=) n.45C= c.6537C= (p.Phe2179=) n.4800C= c.7758C= (p.Phe2586=) c.7137C= (p.Phe2379=) c.7857C= (p.Phe2619=) c.8355C= (p.Phe2785=) c.5952C= (p.Phe1984=) | |
2 | g.237340558G>T | CA351195042 | COL6A3 | c.1003C>A c.7740C>A (p.Phe2580Leu) c.361C>A n.625C>A c.8358C>A (p.Phe2786Leu) c.6534C>A (p.Phe2178Leu) n.45C>A c.6537C>A (p.Phe2179Leu) n.4800C>A c.7758C>A (p.Phe2586Leu) c.7137C>A (p.Phe2379Leu) c.7857C>A (p.Phe2619Leu) c.8355C>A (p.Phe2785Leu) c.5952C>A (p.Phe1984Leu) | COSMIC |
2 | g.237340559A>C | CA351195049 | COL6A3 | c.1002T>G c.7739T>G (p.Phe2580Cys) c.360T>G n.624T>G c.8357T>G (p.Phe2786Cys) c.6533T>G (p.Phe2178Cys) n.44T>G c.6536T>G (p.Phe2179Cys) n.4799T>G c.7757T>G (p.Phe2586Cys) c.7136T>G (p.Phe2379Cys) c.7856T>G (p.Phe2619Cys) c.8354T>G (p.Phe2785Cys) c.5951T>G (p.Phe1984Cys) | |
2 | g.237340559A>G | CA351195052 | COL6A3 | c.1002T>C c.7739T>C (p.Phe2580Ser) c.360T>C n.624T>C c.8357T>C (p.Phe2786Ser) c.6533T>C (p.Phe2178Ser) n.44T>C c.6536T>C (p.Phe2179Ser) n.4799T>C c.7757T>C (p.Phe2586Ser) c.7136T>C (p.Phe2379Ser) c.7856T>C (p.Phe2619Ser) c.8354T>C (p.Phe2785Ser) c.5951T>C (p.Phe1984Ser) | gnomAD v4 |
2 | g.237340559A>T | CA351195054 | COL6A3 | c.1002T>A c.7739T>A (p.Phe2580Tyr) c.360T>A n.624T>A c.8357T>A (p.Phe2786Tyr) c.6533T>A (p.Phe2178Tyr) n.44T>A c.6536T>A (p.Phe2179Tyr) n.4799T>A c.7757T>A (p.Phe2586Tyr) c.7136T>A (p.Phe2379Tyr) c.7856T>A (p.Phe2619Tyr) c.8354T>A (p.Phe2785Tyr) c.5951T>A (p.Phe1984Tyr) | |
2 | g.237340560A>C | CA351195058 | COL6A3 | c.1001T>G c.7738T>G (p.Phe2580Val) c.359T>G n.623T>G c.8356T>G (p.Phe2786Val) c.6532T>G (p.Phe2178Val) n.43T>G c.6535T>G (p.Phe2179Val) n.4798T>G c.7756T>G (p.Phe2586Val) c.7135T>G (p.Phe2379Val) c.7855T>G (p.Phe2619Val) c.8353T>G (p.Phe2785Val) c.5950T>G (p.Phe1984Val) | gnomAD v4 |
2 | g.237340560A>G | CA351195060 | COL6A3 | c.1001T>C c.7738T>C (p.Phe2580Leu) c.359T>C n.623T>C c.8356T>C (p.Phe2786Leu) c.6532T>C (p.Phe2178Leu) n.43T>C c.6535T>C (p.Phe2179Leu) n.4798T>C c.7756T>C (p.Phe2586Leu) c.7135T>C (p.Phe2379Leu) c.7855T>C (p.Phe2619Leu) c.8353T>C (p.Phe2785Leu) c.5950T>C (p.Phe1984Leu) | |
2 | g.237340560A>T | CA351195063 | COL6A3 | c.1001T>A c.7738T>A (p.Phe2580Ile) c.359T>A n.623T>A c.8356T>A (p.Phe2786Ile) c.6532T>A (p.Phe2178Ile) n.43T>A c.6535T>A (p.Phe2179Ile) n.4798T>A c.7756T>A (p.Phe2586Ile) c.7135T>A (p.Phe2379Ile) c.7855T>A (p.Phe2619Ile) c.8353T>A (p.Phe2785Ile) c.5950T>A (p.Phe1984Ile) | |
2 | g.237340561G>A | CA431701495 | COL6A3 | c.1000C>T c.7737C>T (p.Thr2579=) c.358C>T n.622C>T c.8355C>T (p.Thr2785=) c.6531C>T (p.Thr2177=) n.42C>T c.6534C>T (p.Thr2178=) n.4797C>T c.7755C>T (p.Thr2585=) c.7134C>T (p.Thr2378=) c.7854C>T (p.Thr2618=) c.8352C>T (p.Thr2784=) c.5949C>T (p.Thr1983=) | gnomAD v4 |
2 | g.237340561G>C | CA431701498 | COL6A3 | c.1000C>G c.7737C>G (p.Thr2579=) c.358C>G n.622C>G c.8355C>G (p.Thr2785=) c.6531C>G (p.Thr2177=) n.42C>G c.6534C>G (p.Thr2178=) n.4797C>G c.7755C>G (p.Thr2585=) c.7134C>G (p.Thr2378=) c.7854C>G (p.Thr2618=) c.8352C>G (p.Thr2784=) c.5949C>G (p.Thr1983=) | |
2 | g.237340561G>T | CA431701500 | COL6A3 | c.1000C>A c.7737C>A (p.Thr2579=) c.358C>A n.622C>A c.8355C>A (p.Thr2785=) c.6531C>A (p.Thr2177=) n.42C>A c.6534C>A (p.Thr2178=) n.4797C>A c.7755C>A (p.Thr2585=) c.7134C>A (p.Thr2378=) c.7854C>A (p.Thr2618=) c.8352C>A (p.Thr2784=) c.5949C>A (p.Thr1983=) | gnomAD v4 |
2 | g.237340562G>A | CA351195067 | COL6A3 | c.999C>T c.7736C>T (p.Thr2579Ile) c.357C>T n.621C>T c.8354C>T (p.Thr2785Ile) c.6530C>T (p.Thr2177Ile) n.41C>T c.6533C>T (p.Thr2178Ile) n.4796C>T c.7754C>T (p.Thr2585Ile) c.7133C>T (p.Thr2378Ile) c.7853C>T (p.Thr2618Ile) c.8351C>T (p.Thr2784Ile) c.5948C>T (p.Thr1983Ile) | |
2 | g.237340562G>C | CA351195068 | COL6A3 | c.999C>G c.7736C>G (p.Thr2579Ser) c.357C>G n.621C>G c.8354C>G (p.Thr2785Ser) c.6530C>G (p.Thr2177Ser) n.41C>G c.6533C>G (p.Thr2178Ser) n.4796C>G c.7754C>G (p.Thr2585Ser) c.7133C>G (p.Thr2378Ser) c.7853C>G (p.Thr2618Ser) c.8351C>G (p.Thr2784Ser) c.5948C>G (p.Thr1983Ser) | dbSNP gnomAD v2 |
2 | g.237340562G= | CA1337608619 | COL6A3 | c.999C= c.7736C= (p.Thr2579=) c.357C= n.621C= c.8354C= (p.Thr2785=) c.6530C= (p.Thr2177=) n.41C= c.6533C= (p.Thr2178=) n.4796C= c.7754C= (p.Thr2585=) c.7133C= (p.Thr2378=) c.7853C= (p.Thr2618=) c.8351C= (p.Thr2784=) c.5948C= (p.Thr1983=) | |
2 | g.237340562G>T | CA351195070 | COL6A3 | c.999C>A c.7736C>A (p.Thr2579Asn) c.357C>A n.621C>A c.8354C>A (p.Thr2785Asn) c.6530C>A (p.Thr2177Asn) n.41C>A c.6533C>A (p.Thr2178Asn) n.4796C>A c.7754C>A (p.Thr2585Asn) c.7133C>A (p.Thr2378Asn) c.7853C>A (p.Thr2618Asn) c.8351C>A (p.Thr2784Asn) c.5948C>A (p.Thr1983Asn) | |
2 | g.237340563T>A | CA351195072 | COL6A3 | c.998A>T c.7735A>T (p.Thr2579Ser) c.356A>T n.620A>T c.8353A>T (p.Thr2785Ser) c.6529A>T (p.Thr2177Ser) n.40A>T c.6532A>T (p.Thr2178Ser) n.4795A>T c.7753A>T (p.Thr2585Ser) c.7132A>T (p.Thr2378Ser) c.7852A>T (p.Thr2618Ser) c.8350A>T (p.Thr2784Ser) c.5947A>T (p.Thr1983Ser) | |
2 | g.237340563T>C | CA2187573 | COL6A3 | c.998A>G c.7735A>G (p.Thr2579Ala) c.356A>G n.620A>G c.8353A>G (p.Thr2785Ala) c.6529A>G (p.Thr2177Ala) n.40A>G c.6532A>G (p.Thr2178Ala) n.4795A>G c.7753A>G (p.Thr2585Ala) c.7132A>G (p.Thr2378Ala) c.7852A>G (p.Thr2618Ala) c.8350A>G (p.Thr2784Ala) c.5947A>G (p.Thr1983Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237340563T>G | CA351195076 | COL6A3 | c.998A>C c.7735A>C (p.Thr2579Pro) c.356A>C n.620A>C c.8353A>C (p.Thr2785Pro) c.6529A>C (p.Thr2177Pro) n.40A>C c.6532A>C (p.Thr2178Pro) n.4795A>C c.7753A>C (p.Thr2585Pro) c.7132A>C (p.Thr2378Pro) c.7852A>C (p.Thr2618Pro) c.8350A>C (p.Thr2784Pro) c.5947A>C (p.Thr1983Pro) | |
2 | g.237340563T= | CA1337608623 | COL6A3 | c.998A= c.7735A= (p.Thr2579=) c.356A= n.620A= c.8353A= (p.Thr2785=) c.6529A= (p.Thr2177=) n.40A= c.6532A= (p.Thr2178=) n.4795A= c.7753A= (p.Thr2585=) c.7132A= (p.Thr2378=) c.7852A= (p.Thr2618=) c.8350A= (p.Thr2784=) c.5947A= (p.Thr1983=) | |
2 | g.237340564G>A | CA431701518 | COL6A3 | c.997C>T c.7734C>T (p.Tyr2578=) c.355C>T n.619C>T c.8352C>T (p.Tyr2784=) c.6528C>T (p.Tyr2176=) n.39C>T c.6531C>T (p.Tyr2177=) n.4794C>T c.7752C>T (p.Tyr2584=) c.7131C>T (p.Tyr2377=) c.7851C>T (p.Tyr2617=) c.8349C>T (p.Tyr2783=) c.5946C>T (p.Tyr1982=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237340564G>C | CA351195080 | COL6A3 | c.997C>G c.7734C>G (p.Tyr2578Ter) c.355C>G n.619C>G c.8352C>G (p.Tyr2784Ter) c.6528C>G (p.Tyr2176Ter) n.39C>G c.6531C>G (p.Tyr2177Ter) n.4794C>G c.7752C>G (p.Tyr2584Ter) c.7131C>G (p.Tyr2377Ter) c.7851C>G (p.Tyr2617Ter) c.8349C>G (p.Tyr2783Ter) c.5946C>G (p.Tyr1982Ter) | |
2 | g.237340564G= | CA1337608626 | COL6A3 | c.997C= c.7734C= (p.Tyr2578=) c.355C= n.619C= c.8352C= (p.Tyr2784=) c.6528C= (p.Tyr2176=) n.39C= c.6531C= (p.Tyr2177=) n.4794C= c.7752C= (p.Tyr2584=) c.7131C= (p.Tyr2377=) c.7851C= (p.Tyr2617=) c.8349C= (p.Tyr2783=) c.5946C= (p.Tyr1982=) | |
2 | g.237340564G>T | CA351195078 | COL6A3 | c.997C>A c.7734C>A (p.Tyr2578Ter) c.355C>A n.619C>A c.8352C>A (p.Tyr2784Ter) c.6528C>A (p.Tyr2176Ter) n.39C>A c.6531C>A (p.Tyr2177Ter) n.4794C>A c.7752C>A (p.Tyr2584Ter) c.7131C>A (p.Tyr2377Ter) c.7851C>A (p.Tyr2617Ter) c.8349C>A (p.Tyr2783Ter) c.5946C>A (p.Tyr1982Ter) | |
2 | g.237340565T>A | CA351195082 | COL6A3 | c.996A>T c.7733A>T (p.Tyr2578Phe) c.354A>T n.618A>T c.8351A>T (p.Tyr2784Phe) c.6527A>T (p.Tyr2176Phe) n.38A>T c.6530A>T (p.Tyr2177Phe) n.4793A>T c.7751A>T (p.Tyr2584Phe) c.7130A>T (p.Tyr2377Phe) c.7850A>T (p.Tyr2617Phe) c.8348A>T (p.Tyr2783Phe) c.5945A>T (p.Tyr1982Phe) | ClinVar dbSNP |
2 | g.237340565T>C | CA351195084 | COL6A3 | c.996A>G c.7733A>G (p.Tyr2578Cys) c.354A>G n.618A>G c.8351A>G (p.Tyr2784Cys) c.6527A>G (p.Tyr2176Cys) n.38A>G c.6530A>G (p.Tyr2177Cys) n.4793A>G c.7751A>G (p.Tyr2584Cys) c.7130A>G (p.Tyr2377Cys) c.7850A>G (p.Tyr2617Cys) c.8348A>G (p.Tyr2783Cys) c.5945A>G (p.Tyr1982Cys) | |
2 | g.237340565T>G | CA351195086 | COL6A3 | c.996A>C c.7733A>C (p.Tyr2578Ser) c.354A>C n.618A>C c.8351A>C (p.Tyr2784Ser) c.6527A>C (p.Tyr2176Ser) n.38A>C c.6530A>C (p.Tyr2177Ser) n.4793A>C c.7751A>C (p.Tyr2584Ser) c.7130A>C (p.Tyr2377Ser) c.7850A>C (p.Tyr2617Ser) c.8348A>C (p.Tyr2783Ser) c.5945A>C (p.Tyr1982Ser) | |
2 | g.237340566A>C | CA351195088 | COL6A3 | c.995T>G c.7732T>G (p.Tyr2578Asp) c.353T>G n.617T>G c.8350T>G (p.Tyr2784Asp) c.6526T>G (p.Tyr2176Asp) n.37T>G c.6529T>G (p.Tyr2177Asp) n.4792T>G c.7750T>G (p.Tyr2584Asp) c.7129T>G (p.Tyr2377Asp) c.7849T>G (p.Tyr2617Asp) c.8347T>G (p.Tyr2783Asp) c.5944T>G (p.Tyr1982Asp) | |
2 | g.237340566A>G | CA351195090 | COL6A3 | c.995T>C c.7732T>C (p.Tyr2578His) c.353T>C n.617T>C c.8350T>C (p.Tyr2784His) c.6526T>C (p.Tyr2176His) n.37T>C c.6529T>C (p.Tyr2177His) n.4792T>C c.7750T>C (p.Tyr2584His) c.7129T>C (p.Tyr2377His) c.7849T>C (p.Tyr2617His) c.8347T>C (p.Tyr2783His) c.5944T>C (p.Tyr1982His) | |
2 | g.237340566A>T | CA351195092 | COL6A3 | c.995T>A c.7732T>A (p.Tyr2578Asn) c.353T>A n.617T>A c.8350T>A (p.Tyr2784Asn) c.6526T>A (p.Tyr2176Asn) n.37T>A c.6529T>A (p.Tyr2177Asn) n.4792T>A c.7750T>A (p.Tyr2584Asn) c.7129T>A (p.Tyr2377Asn) c.7849T>A (p.Tyr2617Asn) c.8347T>A (p.Tyr2783Asn) c.5944T>A (p.Tyr1982Asn) |