Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237334791G>A | CA351188799 | COL6A3 | c.1611-1243C>T c.8446C>T (p.Leu2816Phe) c.1191C>T c.9064C>T (p.Leu3022Phe) c.7240C>T (p.Leu2414Phe) c.7243C>T (p.Leu2415Phe) n.5506C>T c.8464C>T (p.Leu2822Phe) c.7843C>T (p.Leu2615Phe) c.8563C>T (p.Leu2855Phe) c.9061C>T (p.Leu3021Phe) c.6658C>T (p.Leu2220Phe) | gnomAD v4 |
2 | g.237334791G>C | CA351188801 | COL6A3 | c.1611-1243C>G c.8446C>G (p.Leu2816Val) c.1191C>G c.9064C>G (p.Leu3022Val) c.7240C>G (p.Leu2414Val) c.7243C>G (p.Leu2415Val) n.5506C>G c.8464C>G (p.Leu2822Val) c.7843C>G (p.Leu2615Val) c.8563C>G (p.Leu2855Val) c.9061C>G (p.Leu3021Val) c.6658C>G (p.Leu2220Val) | |
2 | g.237334791G>T | CA351188805 | COL6A3 | c.1611-1243C>A c.8446C>A (p.Leu2816Ile) c.1191C>A c.9064C>A (p.Leu3022Ile) c.7240C>A (p.Leu2414Ile) c.7243C>A (p.Leu2415Ile) n.5506C>A c.8464C>A (p.Leu2822Ile) c.7843C>A (p.Leu2615Ile) c.8563C>A (p.Leu2855Ile) c.9061C>A (p.Leu3021Ile) c.6658C>A (p.Leu2220Ile) | COSMIC |
2 | g.237334791_237334794delinsGGTC | CA1337606459 | COL6A3 | c.1611-1246_1611-1243delinsGACC c.8443_8446delinsGACC (p.Asp2815=) c.1188_1191delinsGACC c.9061_9064delinsGACC (p.Asp3021=) c.7237_7240delinsGACC (p.Asp2413=) c.7240_7243delinsGACC (p.Asp2414=) n.5503_5506delinsGACC c.8461_8464delinsGACC (p.Asp2821=) c.7840_7843delinsGACC (p.Asp2614=) c.8560_8563delinsGACC (p.Asp2854=) c.9058_9061delinsGACC (p.Asp3020=) c.6655_6658delinsGACC (p.Asp2219=) | |
2 | g.237334792G>A | CA431699149 | COL6A3 | c.1611-1244C>T c.8445C>T (p.Asp2815=) c.1190C>T c.9063C>T (p.Asp3021=) c.7239C>T (p.Asp2413=) c.7242C>T (p.Asp2414=) n.5505C>T c.8463C>T (p.Asp2821=) c.7842C>T (p.Asp2614=) c.8562C>T (p.Asp2854=) c.9060C>T (p.Asp3020=) c.6657C>T (p.Asp2219=) | |
2 | g.237334792G>C | CA351188808 | COL6A3 | c.1611-1244C>G c.8445C>G (p.Asp2815Glu) c.1190C>G c.9063C>G (p.Asp3021Glu) c.7239C>G (p.Asp2413Glu) c.7242C>G (p.Asp2414Glu) n.5505C>G c.8463C>G (p.Asp2821Glu) c.7842C>G (p.Asp2614Glu) c.8562C>G (p.Asp2854Glu) c.9060C>G (p.Asp3020Glu) c.6657C>G (p.Asp2219Glu) | |
2 | g.237334792G= | CA1337606460 | COL6A3 | c.1611-1244C= c.8445C= (p.Asp2815=) c.1190C= c.9063C= (p.Asp3021=) c.7239C= (p.Asp2413=) c.7242C= (p.Asp2414=) n.5505C= c.8463C= (p.Asp2821=) c.7842C= (p.Asp2614=) c.8562C= (p.Asp2854=) c.9060C= (p.Asp3020=) c.6657C= (p.Asp2219=) | |
2 | g.237334792G>T | CA351188814 | COL6A3 | c.1611-1244C>A c.8445C>A (p.Asp2815Glu) c.1190C>A c.9063C>A (p.Asp3021Glu) c.7239C>A (p.Asp2413Glu) c.7242C>A (p.Asp2414Glu) n.5505C>A c.8463C>A (p.Asp2821Glu) c.7842C>A (p.Asp2614Glu) c.8562C>A (p.Asp2854Glu) c.9060C>A (p.Asp3020Glu) c.6657C>A (p.Asp2219Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334792_237334794del | CA2187367 | COL6A3 | c.1611-1246_1611-1244del c.8443_8445del (p.Asp2815del) c.1188_1190del c.9061_9063del (p.Asp3021del) c.7237_7239del (p.Asp2413del) c.7240_7242del (p.Asp2414del) n.5503_5505del c.8461_8463del (p.Asp2821del) c.7840_7842del (p.Asp2614del) c.8560_8562del (p.Asp2854del) c.9058_9060del (p.Asp3020del) c.6655_6657del (p.Asp2219del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334793T>A | CA351188821 | COL6A3 | c.1611-1245A>T c.8444A>T (p.Asp2815Val) c.1189A>T c.9062A>T (p.Asp3021Val) c.7238A>T (p.Asp2413Val) c.7241A>T (p.Asp2414Val) n.5504A>T c.8462A>T (p.Asp2821Val) c.7841A>T (p.Asp2614Val) c.8561A>T (p.Asp2854Val) c.9059A>T (p.Asp3020Val) c.6656A>T (p.Asp2219Val) | |
2 | g.237334793T>C | CA351188823 | COL6A3 | c.1611-1245A>G c.8444A>G (p.Asp2815Gly) c.1189A>G c.9062A>G (p.Asp3021Gly) c.7238A>G (p.Asp2413Gly) c.7241A>G (p.Asp2414Gly) n.5504A>G c.8462A>G (p.Asp2821Gly) c.7841A>G (p.Asp2614Gly) c.8561A>G (p.Asp2854Gly) c.9059A>G (p.Asp3020Gly) c.6656A>G (p.Asp2219Gly) | |
2 | g.237334793T>G | CA351188827 | COL6A3 | c.1611-1245A>C c.8444A>C (p.Asp2815Ala) c.1189A>C c.9062A>C (p.Asp3021Ala) c.7238A>C (p.Asp2413Ala) c.7241A>C (p.Asp2414Ala) n.5504A>C c.8462A>C (p.Asp2821Ala) c.7841A>C (p.Asp2614Ala) c.8561A>C (p.Asp2854Ala) c.9059A>C (p.Asp3020Ala) c.6656A>C (p.Asp2219Ala) | |
2 | g.237334794C>A | CA351188832 | COL6A3 | c.1611-1246G>T c.8443G>T (p.Asp2815Tyr) c.1188G>T c.9061G>T (p.Asp3021Tyr) c.7237G>T (p.Asp2413Tyr) c.7240G>T (p.Asp2414Tyr) n.5503G>T c.8461G>T (p.Asp2821Tyr) c.7840G>T (p.Asp2614Tyr) c.8560G>T (p.Asp2854Tyr) c.9058G>T (p.Asp3020Tyr) c.6655G>T (p.Asp2219Tyr) | gnomAD v4 |
2 | g.237334794C= | CA1337606461 | COL6A3 | c.1611-1246G= c.8443G= (p.Asp2815=) c.1188G= c.9061G= (p.Asp3021=) c.7237G= (p.Asp2413=) c.7240G= (p.Asp2414=) n.5503G= c.8461G= (p.Asp2821=) c.7840G= (p.Asp2614=) c.8560G= (p.Asp2854=) c.9058G= (p.Asp3020=) c.6655G= (p.Asp2219=) | |
2 | g.237334794C>G | CA245566 | COL6A3 | c.1611-1246G>C c.8443G>C (p.Asp2815His) c.1188G>C c.9061G>C (p.Asp3021His) c.7237G>C (p.Asp2413His) c.7240G>C (p.Asp2414His) n.5503G>C c.8461G>C (p.Asp2821His) c.7840G>C (p.Asp2614His) c.8560G>C (p.Asp2854His) c.9058G>C (p.Asp3020His) c.6655G>C (p.Asp2219His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334794C>T | CA351188840 | COL6A3 | c.1611-1246G>A c.8443G>A (p.Asp2815Asn) c.1188G>A c.9061G>A (p.Asp3021Asn) c.7237G>A (p.Asp2413Asn) c.7240G>A (p.Asp2414Asn) n.5503G>A c.8461G>A (p.Asp2821Asn) c.7840G>A (p.Asp2614Asn) c.8560G>A (p.Asp2854Asn) c.9058G>A (p.Asp3020Asn) c.6655G>A (p.Asp2219Asn) | |
2 | g.237334795A>C | CA351188861 | COL6A3 | c.1611-1247T>G c.8442T>G (p.Tyr2814Ter) c.1187T>G c.9060T>G (p.Tyr3020Ter) c.7236T>G (p.Tyr2412Ter) c.7239T>G (p.Tyr2413Ter) n.5502T>G c.8460T>G (p.Tyr2820Ter) c.7839T>G (p.Tyr2613Ter) c.8559T>G (p.Tyr2853Ter) c.9057T>G (p.Tyr3019Ter) c.6654T>G (p.Tyr2218Ter) | |
2 | g.237334795A>G | CA431699150 | COL6A3 | c.1611-1247T>C c.8442T>C (p.Tyr2814=) c.1187T>C c.9060T>C (p.Tyr3020=) c.7236T>C (p.Tyr2412=) c.7239T>C (p.Tyr2413=) n.5502T>C c.8460T>C (p.Tyr2820=) c.7839T>C (p.Tyr2613=) c.8559T>C (p.Tyr2853=) c.9057T>C (p.Tyr3019=) c.6654T>C (p.Tyr2218=) | |
2 | g.237334795A>T | CA351188864 | COL6A3 | c.1611-1247T>A c.8442T>A (p.Tyr2814Ter) c.1187T>A c.9060T>A (p.Tyr3020Ter) c.7236T>A (p.Tyr2412Ter) c.7239T>A (p.Tyr2413Ter) n.5502T>A c.8460T>A (p.Tyr2820Ter) c.7839T>A (p.Tyr2613Ter) c.8559T>A (p.Tyr2853Ter) c.9057T>A (p.Tyr3019Ter) c.6654T>A (p.Tyr2218Ter) | |
2 | g.237334796T>A | CA351188871 | COL6A3 | c.1611-1248A>T c.8441A>T (p.Tyr2814Phe) c.1186A>T c.9059A>T (p.Tyr3020Phe) c.7235A>T (p.Tyr2412Phe) c.7238A>T (p.Tyr2413Phe) n.5501A>T c.8459A>T (p.Tyr2820Phe) c.7838A>T (p.Tyr2613Phe) c.8558A>T (p.Tyr2853Phe) c.9056A>T (p.Tyr3019Phe) c.6653A>T (p.Tyr2218Phe) | |
2 | g.237334796T>C | CA2187368 | COL6A3 | c.1611-1248A>G c.8441A>G (p.Tyr2814Cys) c.1186A>G c.9059A>G (p.Tyr3020Cys) c.7235A>G (p.Tyr2412Cys) c.7238A>G (p.Tyr2413Cys) n.5501A>G c.8459A>G (p.Tyr2820Cys) c.7838A>G (p.Tyr2613Cys) c.8558A>G (p.Tyr2853Cys) c.9056A>G (p.Tyr3019Cys) c.6653A>G (p.Tyr2218Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334796T>G | CA351188873 | COL6A3 | c.1611-1248A>C c.8441A>C (p.Tyr2814Ser) c.1186A>C c.9059A>C (p.Tyr3020Ser) c.7235A>C (p.Tyr2412Ser) c.7238A>C (p.Tyr2413Ser) n.5501A>C c.8459A>C (p.Tyr2820Ser) c.7838A>C (p.Tyr2613Ser) c.8558A>C (p.Tyr2853Ser) c.9056A>C (p.Tyr3019Ser) c.6653A>C (p.Tyr2218Ser) | |
2 | g.237334796T= | CA1337606462 | COL6A3 | c.1611-1248A= c.8441A= (p.Tyr2814=) c.1186A= c.9059A= (p.Tyr3020=) c.7235A= (p.Tyr2412=) c.7238A= (p.Tyr2413=) n.5501A= c.8459A= (p.Tyr2820=) c.7838A= (p.Tyr2613=) c.8558A= (p.Tyr2853=) c.9056A= (p.Tyr3019=) c.6653A= (p.Tyr2218=) | |
2 | g.237334797A>C | CA351188880 | COL6A3 | c.1611-1249T>G c.8440T>G (p.Tyr2814Asp) c.1185T>G c.9058T>G (p.Tyr3020Asp) c.7234T>G (p.Tyr2412Asp) c.7237T>G (p.Tyr2413Asp) n.5500T>G c.8458T>G (p.Tyr2820Asp) c.7837T>G (p.Tyr2613Asp) c.8557T>G (p.Tyr2853Asp) c.9055T>G (p.Tyr3019Asp) c.6652T>G (p.Tyr2218Asp) | |
2 | g.237334797A>G | CA351188882 | COL6A3 | c.1611-1249T>C c.8440T>C (p.Tyr2814His) c.1185T>C c.9058T>C (p.Tyr3020His) c.7234T>C (p.Tyr2412His) c.7237T>C (p.Tyr2413His) n.5500T>C c.8458T>C (p.Tyr2820His) c.7837T>C (p.Tyr2613His) c.8557T>C (p.Tyr2853His) c.9055T>C (p.Tyr3019His) c.6652T>C (p.Tyr2218His) | gnomAD v4 |
2 | g.237334797A>T | CA351188881 | COL6A3 | c.1611-1249T>A c.8440T>A (p.Tyr2814Asn) c.1185T>A c.9058T>A (p.Tyr3020Asn) c.7234T>A (p.Tyr2412Asn) c.7237T>A (p.Tyr2413Asn) n.5500T>A c.8458T>A (p.Tyr2820Asn) c.7837T>A (p.Tyr2613Asn) c.8557T>A (p.Tyr2853Asn) c.9055T>A (p.Tyr3019Asn) c.6652T>A (p.Tyr2218Asn) | |
2 | g.237334798A>C | CA351188883 | COL6A3 | c.1611-1250T>G c.8439T>G (p.Phe2813Leu) c.1184T>G c.9057T>G (p.Phe3019Leu) c.7233T>G (p.Phe2411Leu) c.7236T>G (p.Phe2412Leu) n.5499T>G c.8457T>G (p.Phe2819Leu) c.7836T>G (p.Phe2612Leu) c.8556T>G (p.Phe2852Leu) c.9054T>G (p.Phe3018Leu) c.6651T>G (p.Phe2217Leu) | |
2 | g.237334798A>G | CA431699151 | COL6A3 | c.1611-1250T>C c.8439T>C (p.Phe2813=) c.1184T>C c.9057T>C (p.Phe3019=) c.7233T>C (p.Phe2411=) c.7236T>C (p.Phe2412=) n.5499T>C c.8457T>C (p.Phe2819=) c.7836T>C (p.Phe2612=) c.8556T>C (p.Phe2852=) c.9054T>C (p.Phe3018=) c.6651T>C (p.Phe2217=) | |
2 | g.237334798A>T | CA351188884 | COL6A3 | c.1611-1250T>A c.8439T>A (p.Phe2813Leu) c.1184T>A c.9057T>A (p.Phe3019Leu) c.7233T>A (p.Phe2411Leu) c.7236T>A (p.Phe2412Leu) n.5499T>A c.8457T>A (p.Phe2819Leu) c.7836T>A (p.Phe2612Leu) c.8556T>A (p.Phe2852Leu) c.9054T>A (p.Phe3018Leu) c.6651T>A (p.Phe2217Leu) | |
2 | g.237334799A>C | CA351188887 | COL6A3 | c.1611-1251T>G c.8438T>G (p.Phe2813Cys) c.1183T>G c.9056T>G (p.Phe3019Cys) c.7232T>G (p.Phe2411Cys) c.7235T>G (p.Phe2412Cys) n.5498T>G c.8456T>G (p.Phe2819Cys) c.7835T>G (p.Phe2612Cys) c.8555T>G (p.Phe2852Cys) c.9053T>G (p.Phe3018Cys) c.6650T>G (p.Phe2217Cys) | |
2 | g.237334799A>G | CA351188888 | COL6A3 | c.1611-1251T>C c.8438T>C (p.Phe2813Ser) c.1183T>C c.9056T>C (p.Phe3019Ser) c.7232T>C (p.Phe2411Ser) c.7235T>C (p.Phe2412Ser) n.5498T>C c.8456T>C (p.Phe2819Ser) c.7835T>C (p.Phe2612Ser) c.8555T>C (p.Phe2852Ser) c.9053T>C (p.Phe3018Ser) c.6650T>C (p.Phe2217Ser) | |
2 | g.237334799A>T | CA351188890 | COL6A3 | c.1611-1251T>A c.8438T>A (p.Phe2813Tyr) c.1183T>A c.9056T>A (p.Phe3019Tyr) c.7232T>A (p.Phe2411Tyr) c.7235T>A (p.Phe2412Tyr) n.5498T>A c.8456T>A (p.Phe2819Tyr) c.7835T>A (p.Phe2612Tyr) c.8555T>A (p.Phe2852Tyr) c.9053T>A (p.Phe3018Tyr) c.6650T>A (p.Phe2217Tyr) | |
2 | g.237334800A>C | CA351188892 | COL6A3 | c.1611-1252T>G c.8437T>G (p.Phe2813Val) c.1182T>G c.9055T>G (p.Phe3019Val) c.7231T>G (p.Phe2411Val) c.7234T>G (p.Phe2412Val) n.5497T>G c.8455T>G (p.Phe2819Val) c.7834T>G (p.Phe2612Val) c.8554T>G (p.Phe2852Val) c.9052T>G (p.Phe3018Val) c.6649T>G (p.Phe2217Val) | |
2 | g.237334800A>G | CA351188893 | COL6A3 | c.1611-1252T>C c.8437T>C (p.Phe2813Leu) c.1182T>C c.9055T>C (p.Phe3019Leu) c.7231T>C (p.Phe2411Leu) c.7234T>C (p.Phe2412Leu) n.5497T>C c.8455T>C (p.Phe2819Leu) c.7834T>C (p.Phe2612Leu) c.8554T>C (p.Phe2852Leu) c.9052T>C (p.Phe3018Leu) c.6649T>C (p.Phe2217Leu) | |
2 | g.237334800A>T | CA351188899 | COL6A3 | c.1611-1252T>A c.8437T>A (p.Phe2813Ile) c.1182T>A c.9055T>A (p.Phe3019Ile) c.7231T>A (p.Phe2411Ile) c.7234T>A (p.Phe2412Ile) n.5497T>A c.8455T>A (p.Phe2819Ile) c.7834T>A (p.Phe2612Ile) c.8554T>A (p.Phe2852Ile) c.9052T>A (p.Phe3018Ile) c.6649T>A (p.Phe2217Ile) | gnomAD v4 |
2 | g.237334801A>C | CA351188903 | COL6A3 | c.1611-1253T>G c.8436T>G (p.Tyr2812Ter) c.1181T>G c.9054T>G (p.Tyr3018Ter) c.7230T>G (p.Tyr2410Ter) c.7233T>G (p.Tyr2411Ter) n.5496T>G c.8454T>G (p.Tyr2818Ter) c.7833T>G (p.Tyr2611Ter) c.8553T>G (p.Tyr2851Ter) c.9051T>G (p.Tyr3017Ter) c.6648T>G (p.Tyr2216Ter) | |
2 | g.237334801A>G | CA431699152 | COL6A3 | c.1611-1253T>C c.8436T>C (p.Tyr2812=) c.1181T>C c.9054T>C (p.Tyr3018=) c.7230T>C (p.Tyr2410=) c.7233T>C (p.Tyr2411=) n.5496T>C c.8454T>C (p.Tyr2818=) c.7833T>C (p.Tyr2611=) c.8553T>C (p.Tyr2851=) c.9051T>C (p.Tyr3017=) c.6648T>C (p.Tyr2216=) | gnomAD v4 |
2 | g.237334801A>T | CA351188906 | COL6A3 | c.1611-1253T>A c.8436T>A (p.Tyr2812Ter) c.1181T>A c.9054T>A (p.Tyr3018Ter) c.7230T>A (p.Tyr2410Ter) c.7233T>A (p.Tyr2411Ter) n.5496T>A c.8454T>A (p.Tyr2818Ter) c.7833T>A (p.Tyr2611Ter) c.8553T>A (p.Tyr2851Ter) c.9051T>A (p.Tyr3017Ter) c.6648T>A (p.Tyr2216Ter) | COSMIC |
2 | g.237334802T>A | CA351188910 | COL6A3 | c.1611-1254A>T c.8435A>T (p.Tyr2812Phe) c.1180A>T c.9053A>T (p.Tyr3018Phe) c.7229A>T (p.Tyr2410Phe) c.7232A>T (p.Tyr2411Phe) n.5495A>T c.8453A>T (p.Tyr2818Phe) c.7832A>T (p.Tyr2611Phe) c.8552A>T (p.Tyr2851Phe) c.9050A>T (p.Tyr3017Phe) c.6647A>T (p.Tyr2216Phe) | |
2 | g.237334802T>C | CA351188916 | COL6A3 | c.1611-1254A>G c.8435A>G (p.Tyr2812Cys) c.1180A>G c.9053A>G (p.Tyr3018Cys) c.7229A>G (p.Tyr2410Cys) c.7232A>G (p.Tyr2411Cys) n.5495A>G c.8453A>G (p.Tyr2818Cys) c.7832A>G (p.Tyr2611Cys) c.8552A>G (p.Tyr2851Cys) c.9050A>G (p.Tyr3017Cys) c.6647A>G (p.Tyr2216Cys) | |
2 | g.237334802T>G | CA2187369 | COL6A3 | c.1611-1254A>C c.8435A>C (p.Tyr2812Ser) c.1180A>C c.9053A>C (p.Tyr3018Ser) c.7229A>C (p.Tyr2410Ser) c.7232A>C (p.Tyr2411Ser) n.5495A>C c.8453A>C (p.Tyr2818Ser) c.7832A>C (p.Tyr2611Ser) c.8552A>C (p.Tyr2851Ser) c.9050A>C (p.Tyr3017Ser) c.6647A>C (p.Tyr2216Ser) | dbSNP ExAC gnomAD v2 |
2 | g.237334802T= | CA1337606463 | COL6A3 | c.1611-1254A= c.8435A= (p.Tyr2812=) c.1180A= c.9053A= (p.Tyr3018=) c.7229A= (p.Tyr2410=) c.7232A= (p.Tyr2411=) n.5495A= c.8453A= (p.Tyr2818=) c.7832A= (p.Tyr2611=) c.8552A= (p.Tyr2851=) c.9050A= (p.Tyr3017=) c.6647A= (p.Tyr2216=) | |
2 | g.237334803A>C | CA351188921 | COL6A3 | c.1611-1255T>G c.8434T>G (p.Tyr2812Asp) c.1179T>G c.9052T>G (p.Tyr3018Asp) c.7228T>G (p.Tyr2410Asp) c.7231T>G (p.Tyr2411Asp) n.5494T>G c.8452T>G (p.Tyr2818Asp) c.7831T>G (p.Tyr2611Asp) c.8551T>G (p.Tyr2851Asp) c.9049T>G (p.Tyr3017Asp) c.6646T>G (p.Tyr2216Asp) | gnomAD v4 |
2 | g.237334803A>G | CA351188929 | COL6A3 | c.1611-1255T>C c.8434T>C (p.Tyr2812His) c.1179T>C c.9052T>C (p.Tyr3018His) c.7228T>C (p.Tyr2410His) c.7231T>C (p.Tyr2411His) n.5494T>C c.8452T>C (p.Tyr2818His) c.7831T>C (p.Tyr2611His) c.8551T>C (p.Tyr2851His) c.9049T>C (p.Tyr3017His) c.6646T>C (p.Tyr2216His) | |
2 | g.237334803A>T | CA351188924 | COL6A3 | c.1611-1255T>A c.8434T>A (p.Tyr2812Asn) c.1179T>A c.9052T>A (p.Tyr3018Asn) c.7228T>A (p.Tyr2410Asn) c.7231T>A (p.Tyr2411Asn) n.5494T>A c.8452T>A (p.Tyr2818Asn) c.7831T>A (p.Tyr2611Asn) c.8551T>A (p.Tyr2851Asn) c.9049T>A (p.Tyr3017Asn) c.6646T>A (p.Tyr2216Asn) | |
2 | g.237334804dup | CA2663791986 | COL6A3 | c.1611-1255dup c.8434dup (p.Tyr2812LeufsTer4) c.1179dup c.9052dup (p.Tyr3018LeufsTer4) c.7228dup (p.Tyr2410LeufsTer4) c.7231dup (p.Tyr2411LeufsTer4) n.5494dup c.8452dup (p.Tyr2818LeufsTer4) c.7831dup (p.Tyr2611LeufsTer4) c.8551dup (p.Tyr2851LeufsTer4) c.9049dup (p.Tyr3017LeufsTer4) c.6646dup (p.Tyr2216LeufsTer4) | gnomAD v4 |
2 | g.237334804A= | CA1337606464 | COL6A3 | c.1611-1256T= c.8433T= (p.Pro2811=) c.1178T= c.9051T= (p.Pro3017=) c.7227T= (p.Pro2409=) c.7230T= (p.Pro2410=) n.5493T= c.8451T= (p.Pro2817=) c.7830T= (p.Pro2610=) c.8550T= (p.Pro2850=) c.9048T= (p.Pro3016=) c.6645T= (p.Pro2215=) | |
2 | g.237334804A>C | CA431699156 | COL6A3 | c.1611-1256T>G c.8433T>G (p.Pro2811=) c.1178T>G c.9051T>G (p.Pro3017=) c.7227T>G (p.Pro2409=) c.7230T>G (p.Pro2410=) n.5493T>G c.8451T>G (p.Pro2817=) c.7830T>G (p.Pro2610=) c.8550T>G (p.Pro2850=) c.9048T>G (p.Pro3016=) c.6645T>G (p.Pro2215=) | |
2 | g.237334804A>G | CA431699154 | COL6A3 | c.1611-1256T>C c.8433T>C (p.Pro2811=) c.1178T>C c.9051T>C (p.Pro3017=) c.7227T>C (p.Pro2409=) c.7230T>C (p.Pro2410=) n.5493T>C c.8451T>C (p.Pro2817=) c.7830T>C (p.Pro2610=) c.8550T>C (p.Pro2850=) c.9048T>C (p.Pro3016=) c.6645T>C (p.Pro2215=) | |
2 | g.237334804A>T | CA431699155 | COL6A3 | c.1611-1256T>A c.8433T>A (p.Pro2811=) c.1178T>A c.9051T>A (p.Pro3017=) c.7227T>A (p.Pro2409=) c.7230T>A (p.Pro2410=) n.5493T>A c.8451T>A (p.Pro2817=) c.7830T>A (p.Pro2610=) c.8550T>A (p.Pro2850=) c.9048T>A (p.Pro3016=) c.6645T>A (p.Pro2215=) | ClinVar dbSNP |
2 | g.237334805G>A | CA351188933 | COL6A3 | c.1611-1257C>T c.8432C>T (p.Pro2811Leu) c.1177C>T c.9050C>T (p.Pro3017Leu) c.7226C>T (p.Pro2409Leu) c.7229C>T (p.Pro2410Leu) n.5492C>T c.8450C>T (p.Pro2817Leu) c.7829C>T (p.Pro2610Leu) c.8549C>T (p.Pro2850Leu) c.9047C>T (p.Pro3016Leu) c.6644C>T (p.Pro2215Leu) | |
2 | g.237334805G>C | CA351188945 | COL6A3 | c.1611-1257C>G c.8432C>G (p.Pro2811Arg) c.1177C>G c.9050C>G (p.Pro3017Arg) c.7226C>G (p.Pro2409Arg) c.7229C>G (p.Pro2410Arg) n.5492C>G c.8450C>G (p.Pro2817Arg) c.7829C>G (p.Pro2610Arg) c.8549C>G (p.Pro2850Arg) c.9047C>G (p.Pro3016Arg) c.6644C>G (p.Pro2215Arg) | |
2 | g.237334805G>T | CA351188947 | COL6A3 | c.1611-1257C>A c.8432C>A (p.Pro2811His) c.1177C>A c.9050C>A (p.Pro3017His) c.7226C>A (p.Pro2409His) c.7229C>A (p.Pro2410His) n.5492C>A c.8450C>A (p.Pro2817His) c.7829C>A (p.Pro2610His) c.8549C>A (p.Pro2850His) c.9047C>A (p.Pro3016His) c.6644C>A (p.Pro2215His) | |
2 | g.237334806G>A | CA351188957 | COL6A3 | c.1611-1258C>T c.8431C>T (p.Pro2811Ser) c.1176C>T c.9049C>T (p.Pro3017Ser) c.7225C>T (p.Pro2409Ser) c.7228C>T (p.Pro2410Ser) n.5491C>T c.8449C>T (p.Pro2817Ser) c.7828C>T (p.Pro2610Ser) c.8548C>T (p.Pro2850Ser) c.9046C>T (p.Pro3016Ser) c.6643C>T (p.Pro2215Ser) | gnomAD v4 |
2 | g.237334806G>C | CA351188961 | COL6A3 | c.1611-1258C>G c.8431C>G (p.Pro2811Ala) c.1176C>G c.9049C>G (p.Pro3017Ala) c.7225C>G (p.Pro2409Ala) c.7228C>G (p.Pro2410Ala) n.5491C>G c.8449C>G (p.Pro2817Ala) c.7828C>G (p.Pro2610Ala) c.8548C>G (p.Pro2850Ala) c.9046C>G (p.Pro3016Ala) c.6643C>G (p.Pro2215Ala) | |
2 | g.237334806G= | CA1337606465 | COL6A3 | c.1611-1258C= c.8431C= (p.Pro2811=) c.1176C= c.9049C= (p.Pro3017=) c.7225C= (p.Pro2409=) c.7228C= (p.Pro2410=) n.5491C= c.8449C= (p.Pro2817=) c.7828C= (p.Pro2610=) c.8548C= (p.Pro2850=) c.9046C= (p.Pro3016=) c.6643C= (p.Pro2215=) | |
2 | g.237334806G>T | CA2187370 | COL6A3 | c.1611-1258C>A c.8431C>A (p.Pro2811Thr) c.1176C>A c.9049C>A (p.Pro3017Thr) c.7225C>A (p.Pro2409Thr) c.7228C>A (p.Pro2410Thr) n.5491C>A c.8449C>A (p.Pro2817Thr) c.7828C>A (p.Pro2610Thr) c.8548C>A (p.Pro2850Thr) c.9046C>A (p.Pro3016Thr) c.6643C>A (p.Pro2215Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334807A= | CA1337606466 | COL6A3 | c.1611-1259T= c.8430T= (p.Gly2810=) c.1175T= c.9048T= (p.Gly3016=) c.7224T= (p.Gly2408=) c.7227T= (p.Gly2409=) n.5490T= c.8448T= (p.Gly2816=) c.7827T= (p.Gly2609=) c.8547T= (p.Gly2849=) c.9045T= (p.Gly3015=) c.6642T= (p.Gly2214=) | |
2 | g.237334807A>C | CA431699157 | COL6A3 | c.1611-1259T>G c.8430T>G (p.Gly2810=) c.1175T>G c.9048T>G (p.Gly3016=) c.7224T>G (p.Gly2408=) c.7227T>G (p.Gly2409=) n.5490T>G c.8448T>G (p.Gly2816=) c.7827T>G (p.Gly2609=) c.8547T>G (p.Gly2849=) c.9045T>G (p.Gly3015=) c.6642T>G (p.Gly2214=) | |
2 | g.237334807A>G | CA431699158 | COL6A3 | c.1611-1259T>C c.8430T>C (p.Gly2810=) c.1175T>C c.9048T>C (p.Gly3016=) c.7224T>C (p.Gly2408=) c.7227T>C (p.Gly2409=) n.5490T>C c.8448T>C (p.Gly2816=) c.7827T>C (p.Gly2609=) c.8547T>C (p.Gly2849=) c.9045T>C (p.Gly3015=) c.6642T>C (p.Gly2214=) | dbSNP |
2 | g.237334807A>T | CA431699159 | COL6A3 | c.1611-1259T>A c.8430T>A (p.Gly2810=) c.1175T>A c.9048T>A (p.Gly3016=) c.7224T>A (p.Gly2408=) c.7227T>A (p.Gly2409=) n.5490T>A c.8448T>A (p.Gly2816=) c.7827T>A (p.Gly2609=) c.8547T>A (p.Gly2849=) c.9045T>A (p.Gly3015=) c.6642T>A (p.Gly2214=) | |
2 | g.237334808C>A | CA351188966 | COL6A3 | c.1611-1260G>T c.8429G>T (p.Gly2810Val) c.1174G>T c.9047G>T (p.Gly3016Val) c.7223G>T (p.Gly2408Val) c.7226G>T (p.Gly2409Val) n.5489G>T c.8447G>T (p.Gly2816Val) c.7826G>T (p.Gly2609Val) c.8546G>T (p.Gly2849Val) c.9044G>T (p.Gly3015Val) c.6641G>T (p.Gly2214Val) | |
2 | g.237334808C= | CA1337606467 | COL6A3 | c.1611-1260G= c.8429G= (p.Gly2810=) c.1174G= c.9047G= (p.Gly3016=) c.7223G= (p.Gly2408=) c.7226G= (p.Gly2409=) n.5489G= c.8447G= (p.Gly2816=) c.7826G= (p.Gly2609=) c.8546G= (p.Gly2849=) c.9044G= (p.Gly3015=) c.6641G= (p.Gly2214=) | |
2 | g.237334808C>G | CA351188971 | COL6A3 | c.1611-1260G>C c.8429G>C (p.Gly2810Ala) c.1174G>C c.9047G>C (p.Gly3016Ala) c.7223G>C (p.Gly2408Ala) c.7226G>C (p.Gly2409Ala) n.5489G>C c.8447G>C (p.Gly2816Ala) c.7826G>C (p.Gly2609Ala) c.8546G>C (p.Gly2849Ala) c.9044G>C (p.Gly3015Ala) c.6641G>C (p.Gly2214Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334808C>T | CA2187371 | COL6A3 | c.1611-1260G>A c.8429G>A (p.Gly2810Asp) c.1174G>A c.9047G>A (p.Gly3016Asp) c.7223G>A (p.Gly2408Asp) c.7226G>A (p.Gly2409Asp) n.5489G>A c.8447G>A (p.Gly2816Asp) c.7826G>A (p.Gly2609Asp) c.8546G>A (p.Gly2849Asp) c.9044G>A (p.Gly3015Asp) c.6641G>A (p.Gly2214Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334809dup | CA2695197703 | COL6A3 | c.1611-1260dup c.8429dup (p.Pro2811SerfsTer5) c.1174dup c.9047dup (p.Pro3017SerfsTer5) c.7223dup (p.Pro2409SerfsTer5) c.7226dup (p.Pro2410SerfsTer5) n.5489dup c.8447dup (p.Pro2817SerfsTer5) c.7826dup (p.Pro2610SerfsTer5) c.8546dup (p.Pro2850SerfsTer5) c.9044dup (p.Pro3016SerfsTer5) c.6641dup (p.Pro2215SerfsTer5) | ClinVar |
2 | g.237334809C>A | CA351188991 | COL6A3 | c.1611-1261G>T c.8428G>T (p.Gly2810Cys) c.1173G>T c.9046G>T (p.Gly3016Cys) c.7222G>T (p.Gly2408Cys) c.7225G>T (p.Gly2409Cys) n.5488G>T c.8446G>T (p.Gly2816Cys) c.7825G>T (p.Gly2609Cys) c.8545G>T (p.Gly2849Cys) c.9043G>T (p.Gly3015Cys) c.6640G>T (p.Gly2214Cys) | |
2 | g.237334809C= | CA1337606468 | COL6A3 | c.1611-1261G= c.8428G= (p.Gly2810=) c.1173G= c.9046G= (p.Gly3016=) c.7222G= (p.Gly2408=) c.7225G= (p.Gly2409=) n.5488G= c.8446G= (p.Gly2816=) c.7825G= (p.Gly2609=) c.8545G= (p.Gly2849=) c.9043G= (p.Gly3015=) c.6640G= (p.Gly2214=) | |
2 | g.237334809C>G | CA2187372 | COL6A3 | c.1611-1261G>C c.8428G>C (p.Gly2810Arg) c.1173G>C c.9046G>C (p.Gly3016Arg) c.7222G>C (p.Gly2408Arg) c.7225G>C (p.Gly2409Arg) n.5488G>C c.8446G>C (p.Gly2816Arg) c.7825G>C (p.Gly2609Arg) c.8545G>C (p.Gly2849Arg) c.9043G>C (p.Gly3015Arg) c.6640G>C (p.Gly2214Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334809C>T | CA351188988 | COL6A3 | c.1611-1261G>A c.8428G>A (p.Gly2810Ser) c.1173G>A c.9046G>A (p.Gly3016Ser) c.7222G>A (p.Gly2408Ser) c.7225G>A (p.Gly2409Ser) n.5488G>A c.8446G>A (p.Gly2816Ser) c.7825G>A (p.Gly2609Ser) c.8545G>A (p.Gly2849Ser) c.9043G>A (p.Gly3015Ser) c.6640G>A (p.Gly2214Ser) | gnomAD v4 |
2 | g.237334810G>A | CA2187373 | COL6A3 | c.1611-1262C>T c.8427C>T (p.Pro2809=) c.1172C>T c.9045C>T (p.Pro3015=) c.7221C>T (p.Pro2407=) c.7224C>T (p.Pro2408=) n.5487C>T c.8445C>T (p.Pro2815=) c.7824C>T (p.Pro2608=) c.8544C>T (p.Pro2848=) c.9042C>T (p.Pro3014=) c.6639C>T (p.Pro2213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334810G>C | CA431699160 | COL6A3 | c.1611-1262C>G c.8427C>G (p.Pro2809=) c.1172C>G c.9045C>G (p.Pro3015=) c.7221C>G (p.Pro2407=) c.7224C>G (p.Pro2408=) n.5487C>G c.8445C>G (p.Pro2815=) c.7824C>G (p.Pro2608=) c.8544C>G (p.Pro2848=) c.9042C>G (p.Pro3014=) c.6639C>G (p.Pro2213=) | ClinVar dbSNP gnomAD v4 |
2 | g.237334810G= | CA1337606469 | COL6A3 | c.1611-1262C= c.8427C= (p.Pro2809=) c.1172C= c.9045C= (p.Pro3015=) c.7221C= (p.Pro2407=) c.7224C= (p.Pro2408=) n.5487C= c.8445C= (p.Pro2815=) c.7824C= (p.Pro2608=) c.8544C= (p.Pro2848=) c.9042C= (p.Pro3014=) c.6639C= (p.Pro2213=) | |
2 | g.237334810G>T | CA431699161 | COL6A3 | c.1611-1262C>A c.8427C>A (p.Pro2809=) c.1172C>A c.9045C>A (p.Pro3015=) c.7221C>A (p.Pro2407=) c.7224C>A (p.Pro2408=) n.5487C>A c.8445C>A (p.Pro2815=) c.7824C>A (p.Pro2608=) c.8544C>A (p.Pro2848=) c.9042C>A (p.Pro3014=) c.6639C>A (p.Pro2213=) | |
2 | g.237334815dup | CA540749775 | COL6A3 | c.1611-1262dup c.8427dup (p.Gly2810ArgfsTer6) c.1172dup c.9045dup (p.Gly3016ArgfsTer6) c.7221dup (p.Gly2408ArgfsTer6) c.7224dup (p.Gly2409ArgfsTer6) n.5487dup c.8445dup (p.Gly2816ArgfsTer6) c.7824dup (p.Gly2609ArgfsTer6) c.8544dup (p.Gly2849ArgfsTer6) c.9042dup (p.Gly3015ArgfsTer6) c.6639dup (p.Gly2214ArgfsTer6) | gnomAD v2 gnomAD v4 |
2 | g.237334814_237334815dup | CA2754786632 | COL6A3 | c.1611-1263_1611-1262dup c.8426_8427dup (p.Gly2810ProfsTer20) c.1171_1172dup c.9044_9045dup (p.Gly3016ProfsTer20) c.7220_7221dup (p.Gly2408ProfsTer20) c.7223_7224dup (p.Gly2409ProfsTer20) n.5486_5487dup c.8444_8445dup (p.Gly2816ProfsTer20) c.7823_7824dup (p.Gly2609ProfsTer20) c.8543_8544dup (p.Gly2849ProfsTer20) c.9041_9042dup (p.Gly3015ProfsTer20) c.6638_6639dup (p.Gly2214ProfsTer20) | |
2 | g.237334815del | CA431699162 | COL6A3 | c.1611-1262del c.8427del (p.Gly2810ValfsTer19) c.1172del c.9045del (p.Gly3016ValfsTer19) c.7221del (p.Gly2408ValfsTer19) c.7224del (p.Gly2409ValfsTer19) n.5487del c.8445del (p.Gly2816ValfsTer19) c.7824del (p.Gly2609ValfsTer19) c.8544del (p.Gly2849ValfsTer19) c.9042del (p.Gly3015ValfsTer19) c.6639del (p.Gly2214ValfsTer19) | COSMIC |
2 | g.237334811G>A | CA351188996 | COL6A3 | c.1611-1263C>T c.8426C>T (p.Pro2809Leu) c.1171C>T c.9044C>T (p.Pro3015Leu) c.7220C>T (p.Pro2407Leu) c.7223C>T (p.Pro2408Leu) n.5486C>T c.8444C>T (p.Pro2815Leu) c.7823C>T (p.Pro2608Leu) c.8543C>T (p.Pro2848Leu) c.9041C>T (p.Pro3014Leu) c.6638C>T (p.Pro2213Leu) | dbSNP gnomAD v4 |
2 | g.237334811G>C | CA351188997 | COL6A3 | c.1611-1263C>G c.8426C>G (p.Pro2809Arg) c.1171C>G c.9044C>G (p.Pro3015Arg) c.7220C>G (p.Pro2407Arg) c.7223C>G (p.Pro2408Arg) n.5486C>G c.8444C>G (p.Pro2815Arg) c.7823C>G (p.Pro2608Arg) c.8543C>G (p.Pro2848Arg) c.9041C>G (p.Pro3014Arg) c.6638C>G (p.Pro2213Arg) | |
2 | g.237334811G>T | CA351189000 | COL6A3 | c.1611-1263C>A c.8426C>A (p.Pro2809His) c.1171C>A c.9044C>A (p.Pro3015His) c.7220C>A (p.Pro2407His) c.7223C>A (p.Pro2408His) n.5486C>A c.8444C>A (p.Pro2815His) c.7823C>A (p.Pro2608His) c.8543C>A (p.Pro2848His) c.9041C>A (p.Pro3014His) c.6638C>A (p.Pro2213His) | |
2 | g.237334812G>A | CA2187374 | COL6A3 | c.1611-1264C>T c.8425C>T (p.Pro2809Ser) c.1170C>T c.9043C>T (p.Pro3015Ser) c.7219C>T (p.Pro2407Ser) c.7222C>T (p.Pro2408Ser) n.5485C>T c.8443C>T (p.Pro2815Ser) c.7822C>T (p.Pro2608Ser) c.8542C>T (p.Pro2848Ser) c.9040C>T (p.Pro3014Ser) c.6637C>T (p.Pro2213Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334812G>C | CA351189004 | COL6A3 | c.1611-1264C>G c.8425C>G (p.Pro2809Ala) c.1170C>G c.9043C>G (p.Pro3015Ala) c.7219C>G (p.Pro2407Ala) c.7222C>G (p.Pro2408Ala) n.5485C>G c.8443C>G (p.Pro2815Ala) c.7822C>G (p.Pro2608Ala) c.8542C>G (p.Pro2848Ala) c.9040C>G (p.Pro3014Ala) c.6637C>G (p.Pro2213Ala) | |
2 | g.237334812G= | CA1337606470 | COL6A3 | c.1611-1264C= c.8425C= (p.Pro2809=) c.1170C= c.9043C= (p.Pro3015=) c.7219C= (p.Pro2407=) c.7222C= (p.Pro2408=) n.5485C= c.8443C= (p.Pro2815=) c.7822C= (p.Pro2608=) c.8542C= (p.Pro2848=) c.9040C= (p.Pro3014=) c.6637C= (p.Pro2213=) | |
2 | g.237334812G>T | CA351189006 | COL6A3 | c.1611-1264C>A c.8425C>A (p.Pro2809Thr) c.1170C>A c.9043C>A (p.Pro3015Thr) c.7219C>A (p.Pro2407Thr) c.7222C>A (p.Pro2408Thr) n.5485C>A c.8443C>A (p.Pro2815Thr) c.7822C>A (p.Pro2608Thr) c.8542C>A (p.Pro2848Thr) c.9040C>A (p.Pro3014Thr) c.6637C>A (p.Pro2213Thr) | |
2 | g.237334813G>A | CA431699165 | COL6A3 | c.1611-1265C>T c.8424C>T (p.Pro2808=) c.1169C>T c.9042C>T (p.Pro3014=) c.7218C>T (p.Pro2406=) c.7221C>T (p.Pro2407=) n.5484C>T c.8442C>T (p.Pro2814=) c.7821C>T (p.Pro2607=) c.8541C>T (p.Pro2847=) c.9039C>T (p.Pro3013=) c.6636C>T (p.Pro2212=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334813G>C | CA431699163 | COL6A3 | c.1611-1265C>G c.8424C>G (p.Pro2808=) c.1169C>G c.9042C>G (p.Pro3014=) c.7218C>G (p.Pro2406=) c.7221C>G (p.Pro2407=) n.5484C>G c.8442C>G (p.Pro2814=) c.7821C>G (p.Pro2607=) c.8541C>G (p.Pro2847=) c.9039C>G (p.Pro3013=) c.6636C>G (p.Pro2212=) | |
2 | g.237334813G= | CA1337606471 | COL6A3 | c.1611-1265C= c.8424C= (p.Pro2808=) c.1169C= c.9042C= (p.Pro3014=) c.7218C= (p.Pro2406=) c.7221C= (p.Pro2407=) n.5484C= c.8442C= (p.Pro2814=) c.7821C= (p.Pro2607=) c.8541C= (p.Pro2847=) c.9039C= (p.Pro3013=) c.6636C= (p.Pro2212=) | |
2 | g.237334813G>T | CA431699164 | COL6A3 | c.1611-1265C>A c.8424C>A (p.Pro2808=) c.1169C>A c.9042C>A (p.Pro3014=) c.7218C>A (p.Pro2406=) c.7221C>A (p.Pro2407=) n.5484C>A c.8442C>A (p.Pro2814=) c.7821C>A (p.Pro2607=) c.8541C>A (p.Pro2847=) c.9039C>A (p.Pro3013=) c.6636C>A (p.Pro2212=) | |
2 | g.237334814G>A | CA2187375 | COL6A3 | c.1611-1266C>T c.8423C>T (p.Pro2808Leu) c.1168C>T c.9041C>T (p.Pro3014Leu) c.7217C>T (p.Pro2406Leu) c.7220C>T (p.Pro2407Leu) n.5483C>T c.8441C>T (p.Pro2814Leu) c.7820C>T (p.Pro2607Leu) c.8540C>T (p.Pro2847Leu) c.9038C>T (p.Pro3013Leu) c.6635C>T (p.Pro2212Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334814G>C | CA351189007 | COL6A3 | c.1611-1266C>G c.8423C>G (p.Pro2808Arg) c.1168C>G c.9041C>G (p.Pro3014Arg) c.7217C>G (p.Pro2406Arg) c.7220C>G (p.Pro2407Arg) n.5483C>G c.8441C>G (p.Pro2814Arg) c.7820C>G (p.Pro2607Arg) c.8540C>G (p.Pro2847Arg) c.9038C>G (p.Pro3013Arg) c.6635C>G (p.Pro2212Arg) | |
2 | g.237334814G= | CA1337606472 | COL6A3 | c.1611-1266C= c.8423C= (p.Pro2808=) c.1168C= c.9041C= (p.Pro3014=) c.7217C= (p.Pro2406=) c.7220C= (p.Pro2407=) n.5483C= c.8441C= (p.Pro2814=) c.7820C= (p.Pro2607=) c.8540C= (p.Pro2847=) c.9038C= (p.Pro3013=) c.6635C= (p.Pro2212=) | |
2 | g.237334814G>T | CA351189009 | COL6A3 | c.1611-1266C>A c.8423C>A (p.Pro2808His) c.1168C>A c.9041C>A (p.Pro3014His) c.7217C>A (p.Pro2406His) c.7220C>A (p.Pro2407His) n.5483C>A c.8441C>A (p.Pro2814His) c.7820C>A (p.Pro2607His) c.8540C>A (p.Pro2847His) c.9038C>A (p.Pro3013His) c.6635C>A (p.Pro2212His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334815G>A | CA351189011 | COL6A3 | c.1611-1267C>T c.8422C>T (p.Pro2808Ser) c.1167C>T c.9040C>T (p.Pro3014Ser) c.7216C>T (p.Pro2406Ser) c.7219C>T (p.Pro2407Ser) n.5482C>T c.8440C>T (p.Pro2814Ser) c.7819C>T (p.Pro2607Ser) c.8539C>T (p.Pro2847Ser) c.9037C>T (p.Pro3013Ser) c.6634C>T (p.Pro2212Ser) | |
2 | g.237334815G>C | CA351189012 | COL6A3 | c.1611-1267C>G c.8422C>G (p.Pro2808Ala) c.1167C>G c.9040C>G (p.Pro3014Ala) c.7216C>G (p.Pro2406Ala) c.7219C>G (p.Pro2407Ala) n.5482C>G c.8440C>G (p.Pro2814Ala) c.7819C>G (p.Pro2607Ala) c.8539C>G (p.Pro2847Ala) c.9037C>G (p.Pro3013Ala) c.6634C>G (p.Pro2212Ala) | dbSNP |
2 | g.237334815G>T | CA351189013 | COL6A3 | c.1611-1267C>A c.8422C>A (p.Pro2808Thr) c.1167C>A c.9040C>A (p.Pro3014Thr) c.7216C>A (p.Pro2406Thr) c.7219C>A (p.Pro2407Thr) n.5482C>A c.8440C>A (p.Pro2814Thr) c.7819C>A (p.Pro2607Thr) c.8539C>A (p.Pro2847Thr) c.9037C>A (p.Pro3013Thr) c.6634C>A (p.Pro2212Thr) | |
2 | g.237334816C>A | CA351189015 | COL6A3 | c.1611-1268G>T c.8421G>T (p.Glu2807Asp) c.1166G>T c.9039G>T (p.Glu3013Asp) c.7215G>T (p.Glu2405Asp) c.7218G>T (p.Glu2406Asp) n.5481G>T c.8439G>T (p.Glu2813Asp) c.7818G>T (p.Glu2606Asp) c.8538G>T (p.Glu2846Asp) c.9036G>T (p.Glu3012Asp) c.6633G>T (p.Glu2211Asp) | |
2 | g.237334816C= | CA1337606473 | COL6A3 | c.1611-1268G= c.8421G= (p.Glu2807=) c.1166G= c.9039G= (p.Glu3013=) c.7215G= (p.Glu2405=) c.7218G= (p.Glu2406=) n.5481G= c.8439G= (p.Glu2813=) c.7818G= (p.Glu2606=) c.8538G= (p.Glu2846=) c.9036G= (p.Glu3012=) c.6633G= (p.Glu2211=) | |
2 | g.237334816C>G | CA2187376 | COL6A3 | c.1611-1268G>C c.8421G>C (p.Glu2807Asp) c.1166G>C c.9039G>C (p.Glu3013Asp) c.7215G>C (p.Glu2405Asp) c.7218G>C (p.Glu2406Asp) n.5481G>C c.8439G>C (p.Glu2813Asp) c.7818G>C (p.Glu2606Asp) c.8538G>C (p.Glu2846Asp) c.9036G>C (p.Glu3012Asp) c.6633G>C (p.Glu2211Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334816C>T | CA431699166 | COL6A3 | c.1611-1268G>A c.8421G>A (p.Glu2807=) c.1166G>A c.9039G>A (p.Glu3013=) c.7215G>A (p.Glu2405=) c.7218G>A (p.Glu2406=) n.5481G>A c.8439G>A (p.Glu2813=) c.7818G>A (p.Glu2606=) c.8538G>A (p.Glu2846=) c.9036G>A (p.Glu3012=) c.6633G>A (p.Glu2211=) | |
2 | g.237334817T>A | CA351189019 | COL6A3 | c.1611-1269A>T c.8420A>T (p.Glu2807Val) c.1165A>T c.9038A>T (p.Glu3013Val) c.7214A>T (p.Glu2405Val) c.7217A>T (p.Glu2406Val) n.5480A>T c.8438A>T (p.Glu2813Val) c.7817A>T (p.Glu2606Val) c.8537A>T (p.Glu2846Val) c.9035A>T (p.Glu3012Val) c.6632A>T (p.Glu2211Val) | |
2 | g.237334817T>C | CA351189022 | COL6A3 | c.1611-1269A>G c.8420A>G (p.Glu2807Gly) c.1165A>G c.9038A>G (p.Glu3013Gly) c.7214A>G (p.Glu2405Gly) c.7217A>G (p.Glu2406Gly) n.5480A>G c.8438A>G (p.Glu2813Gly) c.7817A>G (p.Glu2606Gly) c.8537A>G (p.Glu2846Gly) c.9035A>G (p.Glu3012Gly) c.6632A>G (p.Glu2211Gly) | |
2 | g.237334817T>G | CA351189024 | COL6A3 | c.1611-1269A>C c.8420A>C (p.Glu2807Ala) c.1165A>C c.9038A>C (p.Glu3013Ala) c.7214A>C (p.Glu2405Ala) c.7217A>C (p.Glu2406Ala) n.5480A>C c.8438A>C (p.Glu2813Ala) c.7817A>C (p.Glu2606Ala) c.8537A>C (p.Glu2846Ala) c.9035A>C (p.Glu3012Ala) c.6632A>C (p.Glu2211Ala) | |
2 | g.237334818C>A | CA351189036 | COL6A3 | c.1611-1270G>T c.8419G>T (p.Glu2807Ter) c.1164G>T c.9037G>T (p.Glu3013Ter) c.7213G>T (p.Glu2405Ter) c.7216G>T (p.Glu2406Ter) n.5479G>T c.8437G>T (p.Glu2813Ter) c.7816G>T (p.Glu2606Ter) c.8536G>T (p.Glu2846Ter) c.9034G>T (p.Glu3012Ter) c.6631G>T (p.Glu2211Ter) | |
2 | g.237334818C>G | CA351189039 | COL6A3 | c.1611-1270G>C c.8419G>C (p.Glu2807Gln) c.1164G>C c.9037G>C (p.Glu3013Gln) c.7213G>C (p.Glu2405Gln) c.7216G>C (p.Glu2406Gln) n.5479G>C c.8437G>C (p.Glu2813Gln) c.7816G>C (p.Glu2606Gln) c.8536G>C (p.Glu2846Gln) c.9034G>C (p.Glu3012Gln) c.6631G>C (p.Glu2211Gln) | gnomAD v4 |
2 | g.237334818C>T | CA351189042 | COL6A3 | c.1611-1270G>A c.8419G>A (p.Glu2807Lys) c.1164G>A c.9037G>A (p.Glu3013Lys) c.7213G>A (p.Glu2405Lys) c.7216G>A (p.Glu2406Lys) n.5479G>A c.8437G>A (p.Glu2813Lys) c.7816G>A (p.Glu2606Lys) c.8536G>A (p.Glu2846Lys) c.9034G>A (p.Glu3012Lys) c.6631G>A (p.Glu2211Lys) | COSMIC |
2 | g.237334819A>C | CA431699167 | COL6A3 | c.1611-1271T>G c.8418T>G (p.Ala2806=) c.1163T>G c.9036T>G (p.Ala3012=) c.7212T>G (p.Ala2404=) c.7215T>G (p.Ala2405=) n.5478T>G c.8436T>G (p.Ala2812=) c.7815T>G (p.Ala2605=) c.8535T>G (p.Ala2845=) c.9033T>G (p.Ala3011=) c.6630T>G (p.Ala2210=) | |
2 | g.237334819A>G | CA431699168 | COL6A3 | c.1611-1271T>C c.8418T>C (p.Ala2806=) c.1163T>C c.9036T>C (p.Ala3012=) c.7212T>C (p.Ala2404=) c.7215T>C (p.Ala2405=) n.5478T>C c.8436T>C (p.Ala2812=) c.7815T>C (p.Ala2605=) c.8535T>C (p.Ala2845=) c.9033T>C (p.Ala3011=) c.6630T>C (p.Ala2210=) | |
2 | g.237334819A>T | CA431699169 | COL6A3 | c.1611-1271T>A c.8418T>A (p.Ala2806=) c.1163T>A c.9036T>A (p.Ala3012=) c.7212T>A (p.Ala2404=) c.7215T>A (p.Ala2405=) n.5478T>A c.8436T>A (p.Ala2812=) c.7815T>A (p.Ala2605=) c.8535T>A (p.Ala2845=) c.9033T>A (p.Ala3011=) c.6630T>A (p.Ala2210=) | |
2 | g.237334820G>A | CA351189046 | COL6A3 | c.1611-1272C>T c.8417C>T (p.Ala2806Val) c.1162C>T c.9035C>T (p.Ala3012Val) c.7211C>T (p.Ala2404Val) c.7214C>T (p.Ala2405Val) n.5477C>T c.8435C>T (p.Ala2812Val) c.7814C>T (p.Ala2605Val) c.8534C>T (p.Ala2845Val) c.9032C>T (p.Ala3011Val) c.6629C>T (p.Ala2210Val) | |
2 | g.237334820G>C | CA351189050 | COL6A3 | c.1611-1272C>G c.8417C>G (p.Ala2806Gly) c.1162C>G c.9035C>G (p.Ala3012Gly) c.7211C>G (p.Ala2404Gly) c.7214C>G (p.Ala2405Gly) n.5477C>G c.8435C>G (p.Ala2812Gly) c.7814C>G (p.Ala2605Gly) c.8534C>G (p.Ala2845Gly) c.9032C>G (p.Ala3011Gly) c.6629C>G (p.Ala2210Gly) | dbSNP gnomAD v4 |
2 | g.237334820G= | CA1337606474 | COL6A3 | c.1611-1272C= c.8417C= (p.Ala2806=) c.1162C= c.9035C= (p.Ala3012=) c.7211C= (p.Ala2404=) c.7214C= (p.Ala2405=) n.5477C= c.8435C= (p.Ala2812=) c.7814C= (p.Ala2605=) c.8534C= (p.Ala2845=) c.9032C= (p.Ala3011=) c.6629C= (p.Ala2210=) | |
2 | g.237334820G>T | CA351189052 | COL6A3 | c.1611-1272C>A c.8417C>A (p.Ala2806Asp) c.1162C>A c.9035C>A (p.Ala3012Asp) c.7211C>A (p.Ala2404Asp) c.7214C>A (p.Ala2405Asp) n.5477C>A c.8435C>A (p.Ala2812Asp) c.7814C>A (p.Ala2605Asp) c.8534C>A (p.Ala2845Asp) c.9032C>A (p.Ala3011Asp) c.6629C>A (p.Ala2210Asp) | |
2 | g.237334821C>A | CA351189056 | COL6A3 | c.1611-1273G>T c.8416G>T (p.Ala2806Ser) c.1161G>T c.9034G>T (p.Ala3012Ser) c.7210G>T (p.Ala2404Ser) c.7213G>T (p.Ala2405Ser) n.5476G>T c.8434G>T (p.Ala2812Ser) c.7813G>T (p.Ala2605Ser) c.8533G>T (p.Ala2845Ser) c.9031G>T (p.Ala3011Ser) c.6628G>T (p.Ala2210Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334821C= | CA1337606475 | COL6A3 | c.1611-1273G= c.8416G= (p.Ala2806=) c.1161G= c.9034G= (p.Ala3012=) c.7210G= (p.Ala2404=) c.7213G= (p.Ala2405=) n.5476G= c.8434G= (p.Ala2812=) c.7813G= (p.Ala2605=) c.8533G= (p.Ala2845=) c.9031G= (p.Ala3011=) c.6628G= (p.Ala2210=) | |
2 | g.237334821C>G | CA148086 | COL6A3 | c.1611-1273G>C c.8416G>C (p.Ala2806Pro) c.1161G>C c.9034G>C (p.Ala3012Pro) c.7210G>C (p.Ala2404Pro) c.7213G>C (p.Ala2405Pro) n.5476G>C c.8434G>C (p.Ala2812Pro) c.7813G>C (p.Ala2605Pro) c.8533G>C (p.Ala2845Pro) c.9031G>C (p.Ala3011Pro) c.6628G>C (p.Ala2210Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334821C>T | CA351189060 | COL6A3 | c.1611-1273G>A c.8416G>A (p.Ala2806Thr) c.1161G>A c.9034G>A (p.Ala3012Thr) c.7210G>A (p.Ala2404Thr) c.7213G>A (p.Ala2405Thr) n.5476G>A c.8434G>A (p.Ala2812Thr) c.7813G>A (p.Ala2605Thr) c.8533G>A (p.Ala2845Thr) c.9031G>A (p.Ala3011Thr) c.6628G>A (p.Ala2210Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334822C>A | CA351189071 | COL6A3 | c.1611-1274G>T c.8415G>T (p.Arg2805Ser) c.1160G>T c.9033G>T (p.Arg3011Ser) c.7209G>T (p.Arg2403Ser) c.7212G>T (p.Arg2404Ser) n.5475G>T c.8433G>T (p.Arg2811Ser) c.7812G>T (p.Arg2604Ser) c.8532G>T (p.Arg2844Ser) c.9030G>T (p.Arg3010Ser) c.6627G>T (p.Arg2209Ser) | |
2 | g.237334822C>G | CA351189074 | COL6A3 | c.1611-1274G>C c.8415G>C (p.Arg2805Ser) c.1160G>C c.9033G>C (p.Arg3011Ser) c.7209G>C (p.Arg2403Ser) c.7212G>C (p.Arg2404Ser) n.5475G>C c.8433G>C (p.Arg2811Ser) c.7812G>C (p.Arg2604Ser) c.8532G>C (p.Arg2844Ser) c.9030G>C (p.Arg3010Ser) c.6627G>C (p.Arg2209Ser) | |
2 | g.237334822C>T | CA431699170 | COL6A3 | c.1611-1274G>A c.8415G>A (p.Arg2805=) c.1160G>A c.9033G>A (p.Arg3011=) c.7209G>A (p.Arg2403=) c.7212G>A (p.Arg2404=) n.5475G>A c.8433G>A (p.Arg2811=) c.7812G>A (p.Arg2604=) c.8532G>A (p.Arg2844=) c.9030G>A (p.Arg3010=) c.6627G>A (p.Arg2209=) | gnomAD v4 |
2 | g.237334823C>A | CA2187377 | COL6A3 | c.1611-1275G>T c.8414G>T (p.Arg2805Met) c.1159G>T c.9032G>T (p.Arg3011Met) c.7208G>T (p.Arg2403Met) c.7211G>T (p.Arg2404Met) n.5474G>T c.8432G>T (p.Arg2811Met) c.7811G>T (p.Arg2604Met) c.8531G>T (p.Arg2844Met) c.9029G>T (p.Arg3010Met) c.6626G>T (p.Arg2209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334823C= | CA1337606476 | COL6A3 | c.1611-1275G= c.8414G= (p.Arg2805=) c.1159G= c.9032G= (p.Arg3011=) c.7208G= (p.Arg2403=) c.7211G= (p.Arg2404=) n.5474G= c.8432G= (p.Arg2811=) c.7811G= (p.Arg2604=) c.8531G= (p.Arg2844=) c.9029G= (p.Arg3010=) c.6626G= (p.Arg2209=) | |
2 | g.237334823C>G | CA351189082 | COL6A3 | c.1611-1275G>C c.8414G>C (p.Arg2805Thr) c.1159G>C c.9032G>C (p.Arg3011Thr) c.7208G>C (p.Arg2403Thr) c.7211G>C (p.Arg2404Thr) n.5474G>C c.8432G>C (p.Arg2811Thr) c.7811G>C (p.Arg2604Thr) c.8531G>C (p.Arg2844Thr) c.9029G>C (p.Arg3010Thr) c.6626G>C (p.Arg2209Thr) | |
2 | g.237334823C>T | CA351189079 | COL6A3 | c.1611-1275G>A c.8414G>A (p.Arg2805Lys) c.1159G>A c.9032G>A (p.Arg3011Lys) c.7208G>A (p.Arg2403Lys) c.7211G>A (p.Arg2404Lys) n.5474G>A c.8432G>A (p.Arg2811Lys) c.7811G>A (p.Arg2604Lys) c.8531G>A (p.Arg2844Lys) c.9029G>A (p.Arg3010Lys) c.6626G>A (p.Arg2209Lys) | |
2 | g.237334824T>A | CA351189089 | COL6A3 | c.1611-1276A>T c.8413A>T (p.Arg2805Trp) c.1158A>T c.9031A>T (p.Arg3011Trp) c.7207A>T (p.Arg2403Trp) c.7210A>T (p.Arg2404Trp) n.5473A>T c.8431A>T (p.Arg2811Trp) c.7810A>T (p.Arg2604Trp) c.8530A>T (p.Arg2844Trp) c.9028A>T (p.Arg3010Trp) c.6625A>T (p.Arg2209Trp) | |
2 | g.237334824T>C | CA2187378 | COL6A3 | c.1611-1276A>G c.8413A>G (p.Arg2805Gly) c.1158A>G c.9031A>G (p.Arg3011Gly) c.7207A>G (p.Arg2403Gly) c.7210A>G (p.Arg2404Gly) n.5473A>G c.8431A>G (p.Arg2811Gly) c.7810A>G (p.Arg2604Gly) c.8530A>G (p.Arg2844Gly) c.9028A>G (p.Arg3010Gly) c.6625A>G (p.Arg2209Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334824T>G | CA2187379 | COL6A3 | c.1611-1276A>C c.8413A>C (p.Arg2805=) c.1158A>C c.9031A>C (p.Arg3011=) c.7207A>C (p.Arg2403=) c.7210A>C (p.Arg2404=) n.5473A>C c.8431A>C (p.Arg2811=) c.7810A>C (p.Arg2604=) c.8530A>C (p.Arg2844=) c.9028A>C (p.Arg3010=) c.6625A>C (p.Arg2209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334824T= | CA1337606477 | COL6A3 | c.1611-1276A= c.8413A= (p.Arg2805=) c.1158A= c.9031A= (p.Arg3011=) c.7207A= (p.Arg2403=) c.7210A= (p.Arg2404=) n.5473A= c.8431A= (p.Arg2811=) c.7810A= (p.Arg2604=) c.8530A= (p.Arg2844=) c.9028A= (p.Arg3010=) c.6625A= (p.Arg2209=) | |
2 | g.237334825C>A | CA351189114 | COL6A3 | c.1611-1277G>T c.8412G>T (p.Glu2804Asp) c.1157G>T c.9030G>T (p.Glu3010Asp) c.7206G>T (p.Glu2402Asp) c.7209G>T (p.Glu2403Asp) n.5472G>T c.8430G>T (p.Glu2810Asp) c.7809G>T (p.Glu2603Asp) c.8529G>T (p.Glu2843Asp) c.9027G>T (p.Glu3009Asp) c.6624G>T (p.Glu2208Asp) | |
2 | g.237334825C>G | CA351189121 | COL6A3 | c.1611-1277G>C c.8412G>C (p.Glu2804Asp) c.1157G>C c.9030G>C (p.Glu3010Asp) c.7206G>C (p.Glu2402Asp) c.7209G>C (p.Glu2403Asp) n.5472G>C c.8430G>C (p.Glu2810Asp) c.7809G>C (p.Glu2603Asp) c.8529G>C (p.Glu2843Asp) c.9027G>C (p.Glu3009Asp) c.6624G>C (p.Glu2208Asp) | gnomAD v4 |
2 | g.237334825C>T | CA431699171 | COL6A3 | c.1611-1277G>A c.8412G>A (p.Glu2804=) c.1157G>A c.9030G>A (p.Glu3010=) c.7206G>A (p.Glu2402=) c.7209G>A (p.Glu2403=) n.5472G>A c.8430G>A (p.Glu2810=) c.7809G>A (p.Glu2603=) c.8529G>A (p.Glu2843=) c.9027G>A (p.Glu3009=) c.6624G>A (p.Glu2208=) | |
2 | g.237334826T>A | CA351189124 | COL6A3 | c.1611-1278A>T c.8411A>T (p.Glu2804Val) c.1156A>T c.9029A>T (p.Glu3010Val) c.7205A>T (p.Glu2402Val) c.7208A>T (p.Glu2403Val) n.5471A>T c.8429A>T (p.Glu2810Val) c.7808A>T (p.Glu2603Val) c.8528A>T (p.Glu2843Val) c.9026A>T (p.Glu3009Val) c.6623A>T (p.Glu2208Val) | ClinVar |
2 | g.237334826T>C | CA351189125 | COL6A3 | c.1611-1278A>G c.8411A>G (p.Glu2804Gly) c.1156A>G c.9029A>G (p.Glu3010Gly) c.7205A>G (p.Glu2402Gly) c.7208A>G (p.Glu2403Gly) n.5471A>G c.8429A>G (p.Glu2810Gly) c.7808A>G (p.Glu2603Gly) c.8528A>G (p.Glu2843Gly) c.9026A>G (p.Glu3009Gly) c.6623A>G (p.Glu2208Gly) | |
2 | g.237334826T>G | CA351189126 | COL6A3 | c.1611-1278A>C c.8411A>C (p.Glu2804Ala) c.1156A>C c.9029A>C (p.Glu3010Ala) c.7205A>C (p.Glu2402Ala) c.7208A>C (p.Glu2403Ala) n.5471A>C c.8429A>C (p.Glu2810Ala) c.7808A>C (p.Glu2603Ala) c.8528A>C (p.Glu2843Ala) c.9026A>C (p.Glu3009Ala) c.6623A>C (p.Glu2208Ala) | |
2 | g.237334827C>A | CA351189127 | COL6A3 | c.1611-1279G>T c.8410G>T (p.Glu2804Ter) c.1155G>T c.9028G>T (p.Glu3010Ter) c.7204G>T (p.Glu2402Ter) c.7207G>T (p.Glu2403Ter) n.5470G>T c.8428G>T (p.Glu2810Ter) c.7807G>T (p.Glu2603Ter) c.8527G>T (p.Glu2843Ter) c.9025G>T (p.Glu3009Ter) c.6622G>T (p.Glu2208Ter) | |
2 | g.237334827C>G | CA351189130 | COL6A3 | c.1611-1279G>C c.8410G>C (p.Glu2804Gln) c.1155G>C c.9028G>C (p.Glu3010Gln) c.7204G>C (p.Glu2402Gln) c.7207G>C (p.Glu2403Gln) n.5470G>C c.8428G>C (p.Glu2810Gln) c.7807G>C (p.Glu2603Gln) c.8527G>C (p.Glu2843Gln) c.9025G>C (p.Glu3009Gln) c.6622G>C (p.Glu2208Gln) | gnomAD v4 |
2 | g.237334827C>T | CA351189139 | COL6A3 | c.1611-1279G>A c.8410G>A (p.Glu2804Lys) c.1155G>A c.9028G>A (p.Glu3010Lys) c.7204G>A (p.Glu2402Lys) c.7207G>A (p.Glu2403Lys) n.5470G>A c.8428G>A (p.Glu2810Lys) c.7807G>A (p.Glu2603Lys) c.8527G>A (p.Glu2843Lys) c.9025G>A (p.Glu3009Lys) c.6622G>A (p.Glu2208Lys) | COSMIC |
2 | g.237334828C>A | CA351189167 | COL6A3 | c.1611-1280G>T c.8409G>T (p.Trp2803Cys) c.1154G>T c.9027G>T (p.Trp3009Cys) c.7203G>T (p.Trp2401Cys) c.7206G>T (p.Trp2402Cys) n.5469G>T c.8427G>T (p.Trp2809Cys) c.7806G>T (p.Trp2602Cys) c.8526G>T (p.Trp2842Cys) c.9024G>T (p.Trp3008Cys) c.6621G>T (p.Trp2207Cys) | |
2 | g.237334828C>G | CA351189145 | COL6A3 | c.1611-1280G>C c.8409G>C (p.Trp2803Cys) c.1154G>C c.9027G>C (p.Trp3009Cys) c.7203G>C (p.Trp2401Cys) c.7206G>C (p.Trp2402Cys) n.5469G>C c.8427G>C (p.Trp2809Cys) c.7806G>C (p.Trp2602Cys) c.8526G>C (p.Trp2842Cys) c.9024G>C (p.Trp3008Cys) c.6621G>C (p.Trp2207Cys) | |
2 | g.237334828C>T | CA351189164 | COL6A3 | c.1611-1280G>A c.8409G>A (p.Trp2803Ter) c.1154G>A c.9027G>A (p.Trp3009Ter) c.7203G>A (p.Trp2401Ter) c.7206G>A (p.Trp2402Ter) n.5469G>A c.8427G>A (p.Trp2809Ter) c.7806G>A (p.Trp2602Ter) c.8526G>A (p.Trp2842Ter) c.9024G>A (p.Trp3008Ter) c.6621G>A (p.Trp2207Ter) | |
2 | g.237334829C>A | CA351189173 | COL6A3 | c.1611-1281G>T c.8408G>T (p.Trp2803Leu) c.1153G>T c.9026G>T (p.Trp3009Leu) c.7202G>T (p.Trp2401Leu) c.7205G>T (p.Trp2402Leu) n.5468G>T c.8426G>T (p.Trp2809Leu) c.7805G>T (p.Trp2602Leu) c.8525G>T (p.Trp2842Leu) c.9023G>T (p.Trp3008Leu) c.6620G>T (p.Trp2207Leu) | |
2 | g.237334829C= | CA1337606478 | COL6A3 | c.1611-1281G= c.8408G= (p.Trp2803=) c.1153G= c.9026G= (p.Trp3009=) c.7202G= (p.Trp2401=) c.7205G= (p.Trp2402=) n.5468G= c.8426G= (p.Trp2809=) c.7805G= (p.Trp2602=) c.8525G= (p.Trp2842=) c.9023G= (p.Trp3008=) c.6620G= (p.Trp2207=) | |
2 | g.237334829C>G | CA351189174 | COL6A3 | c.1611-1281G>C c.8408G>C (p.Trp2803Ser) c.1153G>C c.9026G>C (p.Trp3009Ser) c.7202G>C (p.Trp2401Ser) c.7205G>C (p.Trp2402Ser) n.5468G>C c.8426G>C (p.Trp2809Ser) c.7805G>C (p.Trp2602Ser) c.8525G>C (p.Trp2842Ser) c.9023G>C (p.Trp3008Ser) c.6620G>C (p.Trp2207Ser) | |
2 | g.237334829C>T | CA2187380 | COL6A3 | c.1611-1281G>A c.8408G>A (p.Trp2803Ter) c.1153G>A c.9026G>A (p.Trp3009Ter) c.7202G>A (p.Trp2401Ter) c.7205G>A (p.Trp2402Ter) n.5468G>A c.8426G>A (p.Trp2809Ter) c.7805G>A (p.Trp2602Ter) c.8525G>A (p.Trp2842Ter) c.9023G>A (p.Trp3008Ter) c.6620G>A (p.Trp2207Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334830A>C | CA351189177 | COL6A3 | c.1611-1282T>G c.8407T>G (p.Trp2803Gly) c.1152T>G c.9025T>G (p.Trp3009Gly) c.7201T>G (p.Trp2401Gly) c.7204T>G (p.Trp2402Gly) n.5467T>G c.8425T>G (p.Trp2809Gly) c.7804T>G (p.Trp2602Gly) c.8524T>G (p.Trp2842Gly) c.9022T>G (p.Trp3008Gly) c.6619T>G (p.Trp2207Gly) | |
2 | g.237334830A>G | CA351189178 | COL6A3 | c.1611-1282T>C c.8407T>C (p.Trp2803Arg) c.1152T>C c.9025T>C (p.Trp3009Arg) c.7201T>C (p.Trp2401Arg) c.7204T>C (p.Trp2402Arg) n.5467T>C c.8425T>C (p.Trp2809Arg) c.7804T>C (p.Trp2602Arg) c.8524T>C (p.Trp2842Arg) c.9022T>C (p.Trp3008Arg) c.6619T>C (p.Trp2207Arg) | |
2 | g.237334830A>T | CA351189183 | COL6A3 | c.1611-1282T>A c.8407T>A (p.Trp2803Arg) c.1152T>A c.9025T>A (p.Trp3009Arg) c.7201T>A (p.Trp2401Arg) c.7204T>A (p.Trp2402Arg) n.5467T>A c.8425T>A (p.Trp2809Arg) c.7804T>A (p.Trp2602Arg) c.8524T>A (p.Trp2842Arg) c.9022T>A (p.Trp3008Arg) c.6619T>A (p.Trp2207Arg) | |
2 | g.237334831G>A | CA431699172 | COL6A3 | c.1611-1283C>T c.8406C>T (p.His2802=) c.1151C>T c.9024C>T (p.His3008=) c.7200C>T (p.His2400=) c.7203C>T (p.His2401=) n.5466C>T c.8424C>T (p.His2808=) c.7803C>T (p.His2601=) c.8523C>T (p.His2841=) c.9021C>T (p.His3007=) c.6618C>T (p.His2206=) | gnomAD v4 |
2 | g.237334831G>C | CA351189185 | COL6A3 | c.1611-1283C>G c.8406C>G (p.His2802Gln) c.1151C>G c.9024C>G (p.His3008Gln) c.7200C>G (p.His2400Gln) c.7203C>G (p.His2401Gln) n.5466C>G c.8424C>G (p.His2808Gln) c.7803C>G (p.His2601Gln) c.8523C>G (p.His2841Gln) c.9021C>G (p.His3007Gln) c.6618C>G (p.His2206Gln) | |
2 | g.237334831G= | CA1337606479 | COL6A3 | c.1611-1283C= c.8406C= (p.His2802=) c.1151C= c.9024C= (p.His3008=) c.7200C= (p.His2400=) c.7203C= (p.His2401=) n.5466C= c.8424C= (p.His2808=) c.7803C= (p.His2601=) c.8523C= (p.His2841=) c.9021C= (p.His3007=) c.6618C= (p.His2206=) | |
2 | g.237334831G>T | CA351189191 | COL6A3 | c.1611-1283C>A c.8406C>A (p.His2802Gln) c.1151C>A c.9024C>A (p.His3008Gln) c.7200C>A (p.His2400Gln) c.7203C>A (p.His2401Gln) n.5466C>A c.8424C>A (p.His2808Gln) c.7803C>A (p.His2601Gln) c.8523C>A (p.His2841Gln) c.9021C>A (p.His3007Gln) c.6618C>A (p.His2206Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334832T>A | CA351189200 | COL6A3 | c.1611-1284A>T c.8405A>T (p.His2802Leu) c.1150A>T c.9023A>T (p.His3008Leu) c.7199A>T (p.His2400Leu) c.7202A>T (p.His2401Leu) n.5465A>T c.8423A>T (p.His2808Leu) c.7802A>T (p.His2601Leu) c.8522A>T (p.His2841Leu) c.9020A>T (p.His3007Leu) c.6617A>T (p.His2206Leu) | |
2 | g.237334832T>C | CA351189205 | COL6A3 | c.1611-1284A>G c.8405A>G (p.His2802Arg) c.1150A>G c.9023A>G (p.His3008Arg) c.7199A>G (p.His2400Arg) c.7202A>G (p.His2401Arg) n.5465A>G c.8423A>G (p.His2808Arg) c.7802A>G (p.His2601Arg) c.8522A>G (p.His2841Arg) c.9020A>G (p.His3007Arg) c.6617A>G (p.His2206Arg) | |
2 | g.237334832T>G | CA351189206 | COL6A3 | c.1611-1284A>C c.8405A>C (p.His2802Pro) c.1150A>C c.9023A>C (p.His3008Pro) c.7199A>C (p.His2400Pro) c.7202A>C (p.His2401Pro) n.5465A>C c.8423A>C (p.His2808Pro) c.7802A>C (p.His2601Pro) c.8522A>C (p.His2841Pro) c.9020A>C (p.His3007Pro) c.6617A>C (p.His2206Pro) | |
2 | g.237334833G>A | CA351189220 | COL6A3 | c.1611-1285C>T c.8404C>T (p.His2802Tyr) c.1149C>T c.9022C>T (p.His3008Tyr) c.7198C>T (p.His2400Tyr) c.7201C>T (p.His2401Tyr) n.5464C>T c.8422C>T (p.His2808Tyr) c.7801C>T (p.His2601Tyr) c.8521C>T (p.His2841Tyr) c.9019C>T (p.His3007Tyr) c.6616C>T (p.His2206Tyr) | |
2 | g.237334833G>C | CA351189224 | COL6A3 | c.1611-1285C>G c.8404C>G (p.His2802Asp) c.1149C>G c.9022C>G (p.His3008Asp) c.7198C>G (p.His2400Asp) c.7201C>G (p.His2401Asp) n.5464C>G c.8422C>G (p.His2808Asp) c.7801C>G (p.His2601Asp) c.8521C>G (p.His2841Asp) c.9019C>G (p.His3007Asp) c.6616C>G (p.His2206Asp) | |
2 | g.237334833G>T | CA351189217 | COL6A3 | c.1611-1285C>A c.8404C>A (p.His2802Asn) c.1149C>A c.9022C>A (p.His3008Asn) c.7198C>A (p.His2400Asn) c.7201C>A (p.His2401Asn) n.5464C>A c.8422C>A (p.His2808Asn) c.7801C>A (p.His2601Asn) c.8521C>A (p.His2841Asn) c.9019C>A (p.His3007Asn) c.6616C>A (p.His2206Asn) | |
2 | g.237334834G>A | CA431699173 | COL6A3 | c.1611-1286C>T c.8403C>T (p.Leu2801=) c.1148C>T c.9021C>T (p.Leu3007=) c.7197C>T (p.Leu2399=) c.7200C>T (p.Leu2400=) n.5463C>T c.8421C>T (p.Leu2807=) c.7800C>T (p.Leu2600=) c.8520C>T (p.Leu2840=) c.9018C>T (p.Leu3006=) c.6615C>T (p.Leu2205=) | |
2 | g.237334834G>C | CA431699175 | COL6A3 | c.1611-1286C>G c.8403C>G (p.Leu2801=) c.1148C>G c.9021C>G (p.Leu3007=) c.7197C>G (p.Leu2399=) c.7200C>G (p.Leu2400=) n.5463C>G c.8421C>G (p.Leu2807=) c.7800C>G (p.Leu2600=) c.8520C>G (p.Leu2840=) c.9018C>G (p.Leu3006=) c.6615C>G (p.Leu2205=) | |
2 | g.237334834G>T | CA431699174 | COL6A3 | c.1611-1286C>A c.8403C>A (p.Leu2801=) c.1148C>A c.9021C>A (p.Leu3007=) c.7197C>A (p.Leu2399=) c.7200C>A (p.Leu2400=) n.5463C>A c.8421C>A (p.Leu2807=) c.7800C>A (p.Leu2600=) c.8520C>A (p.Leu2840=) c.9018C>A (p.Leu3006=) c.6615C>A (p.Leu2205=) | |
2 | g.237334835A>C | CA351189229 | COL6A3 | c.1611-1287T>G c.8402T>G (p.Leu2801Arg) c.1147T>G c.9020T>G (p.Leu3007Arg) c.7196T>G (p.Leu2399Arg) c.7199T>G (p.Leu2400Arg) n.5462T>G c.8420T>G (p.Leu2807Arg) c.7799T>G (p.Leu2600Arg) c.8519T>G (p.Leu2840Arg) c.9017T>G (p.Leu3006Arg) c.6614T>G (p.Leu2205Arg) | |
2 | g.237334835A>G | CA351189232 | COL6A3 | c.1611-1287T>C c.8402T>C (p.Leu2801Pro) c.1147T>C c.9020T>C (p.Leu3007Pro) c.7196T>C (p.Leu2399Pro) c.7199T>C (p.Leu2400Pro) n.5462T>C c.8420T>C (p.Leu2807Pro) c.7799T>C (p.Leu2600Pro) c.8519T>C (p.Leu2840Pro) c.9017T>C (p.Leu3006Pro) c.6614T>C (p.Leu2205Pro) | gnomAD v4 |
2 | g.237334835A>T | CA351189234 | COL6A3 | c.1611-1287T>A c.8402T>A (p.Leu2801His) c.1147T>A c.9020T>A (p.Leu3007His) c.7196T>A (p.Leu2399His) c.7199T>A (p.Leu2400His) n.5462T>A c.8420T>A (p.Leu2807His) c.7799T>A (p.Leu2600His) c.8519T>A (p.Leu2840His) c.9017T>A (p.Leu3006His) c.6614T>A (p.Leu2205His) | |
2 | g.237334836G>A | CA351189236 | COL6A3 | c.1611-1288C>T c.8401C>T (p.Leu2801Phe) c.1146C>T c.9019C>T (p.Leu3007Phe) c.7195C>T (p.Leu2399Phe) c.7198C>T (p.Leu2400Phe) n.5461C>T c.8419C>T (p.Leu2807Phe) c.7798C>T (p.Leu2600Phe) c.8518C>T (p.Leu2840Phe) c.9016C>T (p.Leu3006Phe) c.6613C>T (p.Leu2205Phe) | |
2 | g.237334836G>C | CA351189237 | COL6A3 | c.1611-1288C>G c.8401C>G (p.Leu2801Val) c.1146C>G c.9019C>G (p.Leu3007Val) c.7195C>G (p.Leu2399Val) c.7198C>G (p.Leu2400Val) n.5461C>G c.8419C>G (p.Leu2807Val) c.7798C>G (p.Leu2600Val) c.8518C>G (p.Leu2840Val) c.9016C>G (p.Leu3006Val) c.6613C>G (p.Leu2205Val) | |
2 | g.237334836G>T | CA351189241 | COL6A3 | c.1611-1288C>A c.8401C>A (p.Leu2801Ile) c.1146C>A c.9019C>A (p.Leu3007Ile) c.7195C>A (p.Leu2399Ile) c.7198C>A (p.Leu2400Ile) n.5461C>A c.8419C>A (p.Leu2807Ile) c.7798C>A (p.Leu2600Ile) c.8518C>A (p.Leu2840Ile) c.9016C>A (p.Leu3006Ile) c.6613C>A (p.Leu2205Ile) | |
2 | g.237334837T>A | CA351189250 | COL6A3 | c.1611-1289A>T c.8400A>T (p.Lys2800Asn) c.1145A>T c.9018A>T (p.Lys3006Asn) c.7194A>T (p.Lys2398Asn) c.7197A>T (p.Lys2399Asn) n.5460A>T c.8418A>T (p.Lys2806Asn) c.7797A>T (p.Lys2599Asn) c.8517A>T (p.Lys2839Asn) c.9015A>T (p.Lys3005Asn) c.6612A>T (p.Lys2204Asn) | |
2 | g.237334837T>C | CA431699176 | COL6A3 | c.1611-1289A>G c.8400A>G (p.Lys2800=) c.1145A>G c.9018A>G (p.Lys3006=) c.7194A>G (p.Lys2398=) c.7197A>G (p.Lys2399=) n.5460A>G c.8418A>G (p.Lys2806=) c.7797A>G (p.Lys2599=) c.8517A>G (p.Lys2839=) c.9015A>G (p.Lys3005=) c.6612A>G (p.Lys2204=) | |
2 | g.237334837T>G | CA351189247 | COL6A3 | c.1611-1289A>C c.8400A>C (p.Lys2800Asn) c.1145A>C c.9018A>C (p.Lys3006Asn) c.7194A>C (p.Lys2398Asn) c.7197A>C (p.Lys2399Asn) n.5460A>C c.8418A>C (p.Lys2806Asn) c.7797A>C (p.Lys2599Asn) c.8517A>C (p.Lys2839Asn) c.9015A>C (p.Lys3005Asn) c.6612A>C (p.Lys2204Asn) | |
2 | g.237334838T>A | CA351189254 | COL6A3 | c.1611-1290A>T c.8399A>T (p.Lys2800Ile) c.1144A>T c.9017A>T (p.Lys3006Ile) c.7193A>T (p.Lys2398Ile) c.7196A>T (p.Lys2399Ile) n.5459A>T c.8417A>T (p.Lys2806Ile) c.7796A>T (p.Lys2599Ile) c.8516A>T (p.Lys2839Ile) c.9014A>T (p.Lys3005Ile) c.6611A>T (p.Lys2204Ile) | |
2 | g.237334838T>C | CA2187381 | COL6A3 | c.1611-1290A>G c.8399A>G (p.Lys2800Arg) c.1144A>G c.9017A>G (p.Lys3006Arg) c.7193A>G (p.Lys2398Arg) c.7196A>G (p.Lys2399Arg) n.5459A>G c.8417A>G (p.Lys2806Arg) c.7796A>G (p.Lys2599Arg) c.8516A>G (p.Lys2839Arg) c.9014A>G (p.Lys3005Arg) c.6611A>G (p.Lys2204Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334838T>G | CA351189257 | COL6A3 | c.1611-1290A>C c.8399A>C (p.Lys2800Thr) c.1144A>C c.9017A>C (p.Lys3006Thr) c.7193A>C (p.Lys2398Thr) c.7196A>C (p.Lys2399Thr) n.5459A>C c.8417A>C (p.Lys2806Thr) c.7796A>C (p.Lys2599Thr) c.8516A>C (p.Lys2839Thr) c.9014A>C (p.Lys3005Thr) c.6611A>C (p.Lys2204Thr) | |
2 | g.237334838T= | CA1337606480 | COL6A3 | c.1611-1290A= c.8399A= (p.Lys2800=) c.1144A= c.9017A= (p.Lys3006=) c.7193A= (p.Lys2398=) c.7196A= (p.Lys2399=) n.5459A= c.8417A= (p.Lys2806=) c.7796A= (p.Lys2599=) c.8516A= (p.Lys2839=) c.9014A= (p.Lys3005=) c.6611A= (p.Lys2204=) | |
2 | g.237334839T>A | CA351189261 | COL6A3 | c.1611-1291A>T c.8398A>T (p.Lys2800Ter) c.1143A>T c.9016A>T (p.Lys3006Ter) c.7192A>T (p.Lys2398Ter) c.7195A>T (p.Lys2399Ter) n.5458A>T c.8416A>T (p.Lys2806Ter) c.7795A>T (p.Lys2599Ter) c.8515A>T (p.Lys2839Ter) c.9013A>T (p.Lys3005Ter) c.6610A>T (p.Lys2204Ter) | |
2 | g.237334839T>C | CA351189263 | COL6A3 | c.1611-1291A>G c.8398A>G (p.Lys2800Glu) c.1143A>G c.9016A>G (p.Lys3006Glu) c.7192A>G (p.Lys2398Glu) c.7195A>G (p.Lys2399Glu) n.5458A>G c.8416A>G (p.Lys2806Glu) c.7795A>G (p.Lys2599Glu) c.8515A>G (p.Lys2839Glu) c.9013A>G (p.Lys3005Glu) c.6610A>G (p.Lys2204Glu) | |
2 | g.237334839T>G | CA351189267 | COL6A3 | c.1611-1291A>C c.8398A>C (p.Lys2800Gln) c.1143A>C c.9016A>C (p.Lys3006Gln) c.7192A>C (p.Lys2398Gln) c.7195A>C (p.Lys2399Gln) n.5458A>C c.8416A>C (p.Lys2806Gln) c.7795A>C (p.Lys2599Gln) c.8515A>C (p.Lys2839Gln) c.9013A>C (p.Lys3005Gln) c.6610A>C (p.Lys2204Gln) | |
2 | g.237334840G>A | CA431699177 | COL6A3 | c.1611-1292C>T c.8397C>T (p.Ala2799=) c.1142C>T c.9015C>T (p.Ala3005=) c.7191C>T (p.Ala2397=) c.7194C>T (p.Ala2398=) n.5457C>T c.8415C>T (p.Ala2805=) c.7794C>T (p.Ala2598=) c.8514C>T (p.Ala2838=) c.9012C>T (p.Ala3004=) c.6609C>T (p.Ala2203=) | dbSNP |
2 | g.237334840G>C | CA431699178 | COL6A3 | c.1611-1292C>G c.8397C>G (p.Ala2799=) c.1142C>G c.9015C>G (p.Ala3005=) c.7191C>G (p.Ala2397=) c.7194C>G (p.Ala2398=) n.5457C>G c.8415C>G (p.Ala2805=) c.7794C>G (p.Ala2598=) c.8514C>G (p.Ala2838=) c.9012C>G (p.Ala3004=) c.6609C>G (p.Ala2203=) | |
2 | g.237334840G>T | CA431699179 | COL6A3 | c.1611-1292C>A c.8397C>A (p.Ala2799=) c.1142C>A c.9015C>A (p.Ala3005=) c.7191C>A (p.Ala2397=) c.7194C>A (p.Ala2398=) n.5457C>A c.8415C>A (p.Ala2805=) c.7794C>A (p.Ala2598=) c.8514C>A (p.Ala2838=) c.9012C>A (p.Ala3004=) c.6609C>A (p.Ala2203=) | |
2 | g.237334841G>A | CA351189268 | COL6A3 | c.1611-1293C>T c.8396C>T (p.Ala2799Val) c.1141C>T c.9014C>T (p.Ala3005Val) c.7190C>T (p.Ala2397Val) c.7193C>T (p.Ala2398Val) n.5456C>T c.8414C>T (p.Ala2805Val) c.7793C>T (p.Ala2598Val) c.8513C>T (p.Ala2838Val) c.9011C>T (p.Ala3004Val) c.6608C>T (p.Ala2203Val) | ClinVar |
2 | g.237334841G>C | CA351189272 | COL6A3 | c.1611-1293C>G c.8396C>G (p.Ala2799Gly) c.1141C>G c.9014C>G (p.Ala3005Gly) c.7190C>G (p.Ala2397Gly) c.7193C>G (p.Ala2398Gly) n.5456C>G c.8414C>G (p.Ala2805Gly) c.7793C>G (p.Ala2598Gly) c.8513C>G (p.Ala2838Gly) c.9011C>G (p.Ala3004Gly) c.6608C>G (p.Ala2203Gly) | |
2 | g.237334841G>T | CA351189269 | COL6A3 | c.1611-1293C>A c.8396C>A (p.Ala2799Asp) c.1141C>A c.9014C>A (p.Ala3005Asp) c.7190C>A (p.Ala2397Asp) c.7193C>A (p.Ala2398Asp) n.5456C>A c.8414C>A (p.Ala2805Asp) c.7793C>A (p.Ala2598Asp) c.8513C>A (p.Ala2838Asp) c.9011C>A (p.Ala3004Asp) c.6608C>A (p.Ala2203Asp) | |
2 | g.237334842C>A | CA351189275 | COL6A3 | c.1611-1294G>T c.8395G>T (p.Ala2799Ser) c.1140G>T c.9013G>T (p.Ala3005Ser) c.7189G>T (p.Ala2397Ser) c.7192G>T (p.Ala2398Ser) n.5455G>T c.8413G>T (p.Ala2805Ser) c.7792G>T (p.Ala2598Ser) c.8512G>T (p.Ala2838Ser) c.9010G>T (p.Ala3004Ser) c.6607G>T (p.Ala2203Ser) | |
2 | g.237334842C= | CA1337606481 | COL6A3 | c.1611-1294G= c.8395G= (p.Ala2799=) c.1140G= c.9013G= (p.Ala3005=) c.7189G= (p.Ala2397=) c.7192G= (p.Ala2398=) n.5455G= c.8413G= (p.Ala2805=) c.7792G= (p.Ala2598=) c.8512G= (p.Ala2838=) c.9010G= (p.Ala3004=) c.6607G= (p.Ala2203=) | |
2 | g.237334842C>G | CA351189280 | COL6A3 | c.1611-1294G>C c.8395G>C (p.Ala2799Pro) c.1140G>C c.9013G>C (p.Ala3005Pro) c.7189G>C (p.Ala2397Pro) c.7192G>C (p.Ala2398Pro) n.5455G>C c.8413G>C (p.Ala2805Pro) c.7792G>C (p.Ala2598Pro) c.8512G>C (p.Ala2838Pro) c.9010G>C (p.Ala3004Pro) c.6607G>C (p.Ala2203Pro) | gnomAD v4 |
2 | g.237334842C>T | CA2187382 | COL6A3 | c.1611-1294G>A c.8395G>A (p.Ala2799Thr) c.1140G>A c.9013G>A (p.Ala3005Thr) c.7189G>A (p.Ala2397Thr) c.7192G>A (p.Ala2398Thr) n.5455G>A c.8413G>A (p.Ala2805Thr) c.7792G>A (p.Ala2598Thr) c.8512G>A (p.Ala2838Thr) c.9010G>A (p.Ala3004Thr) c.6607G>A (p.Ala2203Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334843G>A | CA245569 | COL6A3 | c.1610+1292C>T c.8394C>T (p.Ser2798=) c.1139C>T c.9012C>T (p.Ser3004=) c.7188C>T (p.Ser2396=) c.7191C>T (p.Ser2397=) n.5454C>T c.8412C>T (p.Ser2804=) c.7791C>T (p.Ser2597=) c.8511C>T (p.Ser2837=) c.9009C>T (p.Ser3003=) c.6606C>T (p.Ser2202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334843G>C | CA351189288 | COL6A3 | c.1610+1292C>G c.8394C>G (p.Ser2798Arg) c.1139C>G c.9012C>G (p.Ser3004Arg) c.7188C>G (p.Ser2396Arg) c.7191C>G (p.Ser2397Arg) n.5454C>G c.8412C>G (p.Ser2804Arg) c.7791C>G (p.Ser2597Arg) c.8511C>G (p.Ser2837Arg) c.9009C>G (p.Ser3003Arg) c.6606C>G (p.Ser2202Arg) | |
2 | g.237334843G= | CA1337606482 | COL6A3 | c.1610+1292C= c.8394C= (p.Ser2798=) c.1139C= c.9012C= (p.Ser3004=) c.7188C= (p.Ser2396=) c.7191C= (p.Ser2397=) n.5454C= c.8412C= (p.Ser2804=) c.7791C= (p.Ser2597=) c.8511C= (p.Ser2837=) c.9009C= (p.Ser3003=) c.6606C= (p.Ser2202=) | |
2 | g.237334843G>T | CA351189292 | COL6A3 | c.1610+1292C>A c.8394C>A (p.Ser2798Arg) c.1139C>A c.9012C>A (p.Ser3004Arg) c.7188C>A (p.Ser2396Arg) c.7191C>A (p.Ser2397Arg) n.5454C>A c.8412C>A (p.Ser2804Arg) c.7791C>A (p.Ser2597Arg) c.8511C>A (p.Ser2837Arg) c.9009C>A (p.Ser3003Arg) c.6606C>A (p.Ser2202Arg) | gnomAD v4 |
2 | g.237334844C>A | CA351189296 | COL6A3 | c.1610+1291G>T c.8393G>T (p.Ser2798Ile) c.1138G>T c.9011G>T (p.Ser3004Ile) c.7187G>T (p.Ser2396Ile) c.7190G>T (p.Ser2397Ile) n.5453G>T c.8411G>T (p.Ser2804Ile) c.7790G>T (p.Ser2597Ile) c.8510G>T (p.Ser2837Ile) c.9008G>T (p.Ser3003Ile) c.6605G>T (p.Ser2202Ile) | |
2 | g.237334844C= | CA1337606483 | COL6A3 | c.1610+1291G= c.8393G= (p.Ser2798=) c.1138G= c.9011G= (p.Ser3004=) c.7187G= (p.Ser2396=) c.7190G= (p.Ser2397=) n.5453G= c.8411G= (p.Ser2804=) c.7790G= (p.Ser2597=) c.8510G= (p.Ser2837=) c.9008G= (p.Ser3003=) c.6605G= (p.Ser2202=) | |
2 | g.237334844C>G | CA351189298 | COL6A3 | c.1610+1291G>C c.8393G>C (p.Ser2798Thr) c.1138G>C c.9011G>C (p.Ser3004Thr) c.7187G>C (p.Ser2396Thr) c.7190G>C (p.Ser2397Thr) n.5453G>C c.8411G>C (p.Ser2804Thr) c.7790G>C (p.Ser2597Thr) c.8510G>C (p.Ser2837Thr) c.9008G>C (p.Ser3003Thr) c.6605G>C (p.Ser2202Thr) | |
2 | g.237334844C>T | CA351189300 | COL6A3 | c.1610+1291G>A c.8393G>A (p.Ser2798Asn) c.1138G>A c.9011G>A (p.Ser3004Asn) c.7187G>A (p.Ser2396Asn) c.7190G>A (p.Ser2397Asn) n.5453G>A c.8411G>A (p.Ser2804Asn) c.7790G>A (p.Ser2597Asn) c.8510G>A (p.Ser2837Asn) c.9008G>A (p.Ser3003Asn) c.6605G>A (p.Ser2202Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334845T>A | CA351189304 | COL6A3 | c.1610+1290A>T c.8392A>T (p.Ser2798Cys) c.1137A>T c.9010A>T (p.Ser3004Cys) c.7186A>T (p.Ser2396Cys) c.7189A>T (p.Ser2397Cys) n.5452A>T c.8410A>T (p.Ser2804Cys) c.7789A>T (p.Ser2597Cys) c.8509A>T (p.Ser2837Cys) c.9007A>T (p.Ser3003Cys) c.6604A>T (p.Ser2202Cys) | |
2 | g.237334845T>C | CA351189309 | COL6A3 | c.1610+1290A>G c.8392A>G (p.Ser2798Gly) c.1137A>G c.9010A>G (p.Ser3004Gly) c.7186A>G (p.Ser2396Gly) c.7189A>G (p.Ser2397Gly) n.5452A>G c.8410A>G (p.Ser2804Gly) c.7789A>G (p.Ser2597Gly) c.8509A>G (p.Ser2837Gly) c.9007A>G (p.Ser3003Gly) c.6604A>G (p.Ser2202Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334845T>G | CA351189314 | COL6A3 | c.1610+1290A>C c.8392A>C (p.Ser2798Arg) c.1137A>C c.9010A>C (p.Ser3004Arg) c.7186A>C (p.Ser2396Arg) c.7189A>C (p.Ser2397Arg) n.5452A>C c.8410A>C (p.Ser2804Arg) c.7789A>C (p.Ser2597Arg) c.8509A>C (p.Ser2837Arg) c.9007A>C (p.Ser3003Arg) c.6604A>C (p.Ser2202Arg) | |
2 | g.237334845T= | CA1337606484 | COL6A3 | c.1610+1290A= c.8392A= (p.Ser2798=) c.1137A= c.9010A= (p.Ser3004=) c.7186A= (p.Ser2396=) c.7189A= (p.Ser2397=) n.5452A= c.8410A= (p.Ser2804=) c.7789A= (p.Ser2597=) c.8509A= (p.Ser2837=) c.9007A= (p.Ser3003=) c.6604A= (p.Ser2202=) | |
2 | g.237334846G>A | CA431699180 | COL6A3 | c.1610+1289C>T c.8391C>T (p.Asn2797=) c.1136C>T c.9009C>T (p.Asn3003=) c.7185C>T (p.Asn2395=) c.7188C>T (p.Asn2396=) n.5451C>T c.8409C>T (p.Asn2803=) c.7788C>T (p.Asn2596=) c.8508C>T (p.Asn2836=) c.9006C>T (p.Asn3002=) c.6603C>T (p.Asn2201=) | |
2 | g.237334846G>C | CA2187383 | COL6A3 | c.1610+1289C>G c.8391C>G (p.Asn2797Lys) c.1136C>G c.9009C>G (p.Asn3003Lys) c.7185C>G (p.Asn2395Lys) c.7188C>G (p.Asn2396Lys) n.5451C>G c.8409C>G (p.Asn2803Lys) c.7788C>G (p.Asn2596Lys) c.8508C>G (p.Asn2836Lys) c.9006C>G (p.Asn3002Lys) c.6603C>G (p.Asn2201Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.237334846G= | CA1337606485 | COL6A3 | c.1610+1289C= c.8391C= (p.Asn2797=) c.1136C= c.9009C= (p.Asn3003=) c.7185C= (p.Asn2395=) c.7188C= (p.Asn2396=) n.5451C= c.8409C= (p.Asn2803=) c.7788C= (p.Asn2596=) c.8508C= (p.Asn2836=) c.9006C= (p.Asn3002=) c.6603C= (p.Asn2201=) | |
2 | g.237334846G>T | CA351189327 | COL6A3 | c.1610+1289C>A c.8391C>A (p.Asn2797Lys) c.1136C>A c.9009C>A (p.Asn3003Lys) c.7185C>A (p.Asn2395Lys) c.7188C>A (p.Asn2396Lys) n.5451C>A c.8409C>A (p.Asn2803Lys) c.7788C>A (p.Asn2596Lys) c.8508C>A (p.Asn2836Lys) c.9006C>A (p.Asn3002Lys) c.6603C>A (p.Asn2201Lys) | |
2 | g.237334847T>A | CA351189333 | COL6A3 | c.1610+1288A>T c.8390A>T (p.Asn2797Ile) c.1135A>T c.9008A>T (p.Asn3003Ile) c.7184A>T (p.Asn2395Ile) c.7187A>T (p.Asn2396Ile) n.5450A>T c.8408A>T (p.Asn2803Ile) c.7787A>T (p.Asn2596Ile) c.8507A>T (p.Asn2836Ile) c.9005A>T (p.Asn3002Ile) c.6602A>T (p.Asn2201Ile) | |
2 | g.237334847T>C | CA351189348 | COL6A3 | c.1610+1288A>G c.8390A>G (p.Asn2797Ser) c.1135A>G c.9008A>G (p.Asn3003Ser) c.7184A>G (p.Asn2395Ser) c.7187A>G (p.Asn2396Ser) n.5450A>G c.8408A>G (p.Asn2803Ser) c.7787A>G (p.Asn2596Ser) c.8507A>G (p.Asn2836Ser) c.9005A>G (p.Asn3002Ser) c.6602A>G (p.Asn2201Ser) | |
2 | g.237334847T>G | CA351189344 | COL6A3 | c.1610+1288A>C c.8390A>C (p.Asn2797Thr) c.1135A>C c.9008A>C (p.Asn3003Thr) c.7184A>C (p.Asn2395Thr) c.7187A>C (p.Asn2396Thr) n.5450A>C c.8408A>C (p.Asn2803Thr) c.7787A>C (p.Asn2596Thr) c.8507A>C (p.Asn2836Thr) c.9005A>C (p.Asn3002Thr) c.6602A>C (p.Asn2201Thr) | |
2 | g.237334848T>A | CA351189353 | COL6A3 | c.1610+1287A>T c.8389A>T (p.Asn2797Tyr) c.1134A>T c.9007A>T (p.Asn3003Tyr) c.7183A>T (p.Asn2395Tyr) c.7186A>T (p.Asn2396Tyr) n.5449A>T c.8407A>T (p.Asn2803Tyr) c.7786A>T (p.Asn2596Tyr) c.8506A>T (p.Asn2836Tyr) c.9004A>T (p.Asn3002Tyr) c.6601A>T (p.Asn2201Tyr) | |
2 | g.237334848T>C | CA351189359 | COL6A3 | c.1610+1287A>G c.8389A>G (p.Asn2797Asp) c.1134A>G c.9007A>G (p.Asn3003Asp) c.7183A>G (p.Asn2395Asp) c.7186A>G (p.Asn2396Asp) n.5449A>G c.8407A>G (p.Asn2803Asp) c.7786A>G (p.Asn2596Asp) c.8506A>G (p.Asn2836Asp) c.9004A>G (p.Asn3002Asp) c.6601A>G (p.Asn2201Asp) | |
2 | g.237334848T>G | CA351189357 | COL6A3 | c.1610+1287A>C c.8389A>C (p.Asn2797His) c.1134A>C c.9007A>C (p.Asn3003His) c.7183A>C (p.Asn2395His) c.7186A>C (p.Asn2396His) n.5449A>C c.8407A>C (p.Asn2803His) c.7786A>C (p.Asn2596His) c.8506A>C (p.Asn2836His) c.9004A>C (p.Asn3002His) c.6601A>C (p.Asn2201His) | |
2 | g.237334849C>A | CA351189363 | COL6A3 | c.1610+1286G>T c.8388G>T (p.Glu2796Asp) c.1133G>T c.9006G>T (p.Glu3002Asp) c.7182G>T (p.Glu2394Asp) c.7185G>T (p.Glu2395Asp) n.5448G>T c.8406G>T (p.Glu2802Asp) c.7785G>T (p.Glu2595Asp) c.8505G>T (p.Glu2835Asp) c.9003G>T (p.Glu3001Asp) c.6600G>T (p.Glu2200Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334849C= | CA1337606486 | COL6A3 | c.1610+1286G= c.8388G= (p.Glu2796=) c.1133G= c.9006G= (p.Glu3002=) c.7182G= (p.Glu2394=) c.7185G= (p.Glu2395=) n.5448G= c.8406G= (p.Glu2802=) c.7785G= (p.Glu2595=) c.8505G= (p.Glu2835=) c.9003G= (p.Glu3001=) c.6600G= (p.Glu2200=) | |
2 | g.237334849C>G | CA351189366 | COL6A3 | c.1610+1286G>C c.8388G>C (p.Glu2796Asp) c.1133G>C c.9006G>C (p.Glu3002Asp) c.7182G>C (p.Glu2394Asp) c.7185G>C (p.Glu2395Asp) n.5448G>C c.8406G>C (p.Glu2802Asp) c.7785G>C (p.Glu2595Asp) c.8505G>C (p.Glu2835Asp) c.9003G>C (p.Glu3001Asp) c.6600G>C (p.Glu2200Asp) | |
2 | g.237334849C>T | CA431699181 | COL6A3 | c.1610+1286G>A c.8388G>A (p.Glu2796=) c.1133G>A c.9006G>A (p.Glu3002=) c.7182G>A (p.Glu2394=) c.7185G>A (p.Glu2395=) n.5448G>A c.8406G>A (p.Glu2802=) c.7785G>A (p.Glu2595=) c.8505G>A (p.Glu2835=) c.9003G>A (p.Glu3001=) c.6600G>A (p.Glu2200=) | |
2 | g.237334850T>A | CA351189370 | COL6A3 | c.1610+1285A>T c.8387A>T (p.Glu2796Val) c.1132A>T c.9005A>T (p.Glu3002Val) c.7181A>T (p.Glu2394Val) c.7184A>T (p.Glu2395Val) n.5447A>T c.8405A>T (p.Glu2802Val) c.7784A>T (p.Glu2595Val) c.8504A>T (p.Glu2835Val) c.9002A>T (p.Glu3001Val) c.6599A>T (p.Glu2200Val) | |
2 | g.237334850T>C | CA2187384 | COL6A3 | c.1610+1285A>G c.8387A>G (p.Glu2796Gly) c.1132A>G c.9005A>G (p.Glu3002Gly) c.7181A>G (p.Glu2394Gly) c.7184A>G (p.Glu2395Gly) n.5447A>G c.8405A>G (p.Glu2802Gly) c.7784A>G (p.Glu2595Gly) c.8504A>G (p.Glu2835Gly) c.9002A>G (p.Glu3001Gly) c.6599A>G (p.Glu2200Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334850T>G | CA351189378 | COL6A3 | c.1610+1285A>C c.8387A>C (p.Glu2796Ala) c.1132A>C c.9005A>C (p.Glu3002Ala) c.7181A>C (p.Glu2394Ala) c.7184A>C (p.Glu2395Ala) n.5447A>C c.8405A>C (p.Glu2802Ala) c.7784A>C (p.Glu2595Ala) c.8504A>C (p.Glu2835Ala) c.9002A>C (p.Glu3001Ala) c.6599A>C (p.Glu2200Ala) | |
2 | g.237334850T= | CA1337606487 | COL6A3 | c.1610+1285A= c.8387A= (p.Glu2796=) c.1132A= c.9005A= (p.Glu3002=) c.7181A= (p.Glu2394=) c.7184A= (p.Glu2395=) n.5447A= c.8405A= (p.Glu2802=) c.7784A= (p.Glu2595=) c.8504A= (p.Glu2835=) c.9002A= (p.Glu3001=) c.6599A= (p.Glu2200=) | |
2 | g.237334851C>A | CA351189381 | COL6A3 | c.1610+1284G>T c.8386G>T (p.Glu2796Ter) c.1131G>T c.9004G>T (p.Glu3002Ter) c.7180G>T (p.Glu2394Ter) c.7183G>T (p.Glu2395Ter) n.5446G>T c.8404G>T (p.Glu2802Ter) c.7783G>T (p.Glu2595Ter) c.8503G>T (p.Glu2835Ter) c.9001G>T (p.Glu3001Ter) c.6598G>T (p.Glu2200Ter) | |
2 | g.237334851C= | CA1337606488 | COL6A3 | c.1610+1284G= c.8386G= (p.Glu2796=) c.1131G= c.9004G= (p.Glu3002=) c.7180G= (p.Glu2394=) c.7183G= (p.Glu2395=) n.5446G= c.8404G= (p.Glu2802=) c.7783G= (p.Glu2595=) c.8503G= (p.Glu2835=) c.9001G= (p.Glu3001=) c.6598G= (p.Glu2200=) | |
2 | g.237334851C>G | CA351189384 | COL6A3 | c.1610+1284G>C c.8386G>C (p.Glu2796Gln) c.1131G>C c.9004G>C (p.Glu3002Gln) c.7180G>C (p.Glu2394Gln) c.7183G>C (p.Glu2395Gln) n.5446G>C c.8404G>C (p.Glu2802Gln) c.7783G>C (p.Glu2595Gln) c.8503G>C (p.Glu2835Gln) c.9001G>C (p.Glu3001Gln) c.6598G>C (p.Glu2200Gln) | |
2 | g.237334851C>T | CA67829599 | COL6A3 | c.1610+1284G>A c.8386G>A (p.Glu2796Lys) c.1131G>A c.9004G>A (p.Glu3002Lys) c.7180G>A (p.Glu2394Lys) c.7183G>A (p.Glu2395Lys) n.5446G>A c.8404G>A (p.Glu2802Lys) c.7783G>A (p.Glu2595Lys) c.8503G>A (p.Glu2835Lys) c.9001G>A (p.Glu3001Lys) c.6598G>A (p.Glu2200Lys) | dbSNP COSMIC |
2 | g.237334852T>A | CA431699182 | COL6A3 | c.1610+1283A>T c.8385A>T (p.Thr2795=) c.1130A>T c.9003A>T (p.Thr3001=) c.7179A>T (p.Thr2393=) c.7182A>T (p.Thr2394=) n.5445A>T c.8403A>T (p.Thr2801=) c.7782A>T (p.Thr2594=) c.8502A>T (p.Thr2834=) c.9000A>T (p.Thr3000=) c.6597A>T (p.Thr2199=) | |
2 | g.237334852T>C | CA431699183 | COL6A3 | c.1610+1283A>G c.8385A>G (p.Thr2795=) c.1130A>G c.9003A>G (p.Thr3001=) c.7179A>G (p.Thr2393=) c.7182A>G (p.Thr2394=) n.5445A>G c.8403A>G (p.Thr2801=) c.7782A>G (p.Thr2594=) c.8502A>G (p.Thr2834=) c.9000A>G (p.Thr3000=) c.6597A>G (p.Thr2199=) | |
2 | g.237334852T>G | CA431699184 | COL6A3 | c.1610+1283A>C c.8385A>C (p.Thr2795=) c.1130A>C c.9003A>C (p.Thr3001=) c.7179A>C (p.Thr2393=) c.7182A>C (p.Thr2394=) n.5445A>C c.8403A>C (p.Thr2801=) c.7782A>C (p.Thr2594=) c.8502A>C (p.Thr2834=) c.9000A>C (p.Thr3000=) c.6597A>C (p.Thr2199=) | |
2 | g.237334853G>A | CA351189390 | COL6A3 | c.1610+1282C>T c.8384C>T (p.Thr2795Ile) c.1129C>T c.9002C>T (p.Thr3001Ile) c.7178C>T (p.Thr2393Ile) c.7181C>T (p.Thr2394Ile) n.5444C>T c.8402C>T (p.Thr2801Ile) c.7781C>T (p.Thr2594Ile) c.8501C>T (p.Thr2834Ile) c.8999C>T (p.Thr3000Ile) c.6596C>T (p.Thr2199Ile) | gnomAD v4 |
2 | g.237334853G>C | CA351189394 | COL6A3 | c.1610+1282C>G c.8384C>G (p.Thr2795Arg) c.1129C>G c.9002C>G (p.Thr3001Arg) c.7178C>G (p.Thr2393Arg) c.7181C>G (p.Thr2394Arg) n.5444C>G c.8402C>G (p.Thr2801Arg) c.7781C>G (p.Thr2594Arg) c.8501C>G (p.Thr2834Arg) c.8999C>G (p.Thr3000Arg) c.6596C>G (p.Thr2199Arg) | dbSNP |
2 | g.237334853G>T | CA351189398 | COL6A3 | c.1610+1282C>A c.8384C>A (p.Thr2795Lys) c.1129C>A c.9002C>A (p.Thr3001Lys) c.7178C>A (p.Thr2393Lys) c.7181C>A (p.Thr2394Lys) n.5444C>A c.8402C>A (p.Thr2801Lys) c.7781C>A (p.Thr2594Lys) c.8501C>A (p.Thr2834Lys) c.8999C>A (p.Thr3000Lys) c.6596C>A (p.Thr2199Lys) | |
2 | g.237334854T>A | CA351189402 | COL6A3 | c.1610+1281A>T c.8383A>T (p.Thr2795Ser) c.1128A>T c.9001A>T (p.Thr3001Ser) c.7177A>T (p.Thr2393Ser) c.7180A>T (p.Thr2394Ser) n.5443A>T c.8401A>T (p.Thr2801Ser) c.7780A>T (p.Thr2594Ser) c.8500A>T (p.Thr2834Ser) c.8998A>T (p.Thr3000Ser) c.6595A>T (p.Thr2199Ser) | |
2 | g.237334854T>C | CA351189409 | COL6A3 | c.1610+1281A>G c.8383A>G (p.Thr2795Ala) c.1128A>G c.9001A>G (p.Thr3001Ala) c.7177A>G (p.Thr2393Ala) c.7180A>G (p.Thr2394Ala) n.5443A>G c.8401A>G (p.Thr2801Ala) c.7780A>G (p.Thr2594Ala) c.8500A>G (p.Thr2834Ala) c.8998A>G (p.Thr3000Ala) c.6595A>G (p.Thr2199Ala) | |
2 | g.237334854T>G | CA351189407 | COL6A3 | c.1610+1281A>C c.8383A>C (p.Thr2795Pro) c.1128A>C c.9001A>C (p.Thr3001Pro) c.7177A>C (p.Thr2393Pro) c.7180A>C (p.Thr2394Pro) n.5443A>C c.8401A>C (p.Thr2801Pro) c.7780A>C (p.Thr2594Pro) c.8500A>C (p.Thr2834Pro) c.8998A>C (p.Thr3000Pro) c.6595A>C (p.Thr2199Pro) | |
2 | g.237334855T>A | CA431699185 | COL6A3 | c.1610+1280A>T c.8382A>T (p.Ile2794=) c.1127A>T c.9000A>T (p.Ile3000=) c.7176A>T (p.Ile2392=) c.7179A>T (p.Ile2393=) n.5442A>T c.8400A>T (p.Ile2800=) c.7779A>T (p.Ile2593=) c.8499A>T (p.Ile2833=) c.8997A>T (p.Ile2999=) c.6594A>T (p.Ile2198=) | |
2 | g.237334855T>C | CA2187385 | COL6A3 | c.1610+1280A>G c.8382A>G (p.Ile2794Met) c.1127A>G c.9000A>G (p.Ile3000Met) c.7176A>G (p.Ile2392Met) c.7179A>G (p.Ile2393Met) n.5442A>G c.8400A>G (p.Ile2800Met) c.7779A>G (p.Ile2593Met) c.8499A>G (p.Ile2833Met) c.8997A>G (p.Ile2999Met) c.6594A>G (p.Ile2198Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334855T>G | CA431699186 | COL6A3 | c.1610+1280A>C c.8382A>C (p.Ile2794=) c.1127A>C c.9000A>C (p.Ile3000=) c.7176A>C (p.Ile2392=) c.7179A>C (p.Ile2393=) n.5442A>C c.8400A>C (p.Ile2800=) c.7779A>C (p.Ile2593=) c.8499A>C (p.Ile2833=) c.8997A>C (p.Ile2999=) c.6594A>C (p.Ile2198=) | |
2 | g.237334855T= | CA1337606489 | COL6A3 | c.1610+1280A= c.8382A= (p.Ile2794=) c.1127A= c.9000A= (p.Ile3000=) c.7176A= (p.Ile2392=) c.7179A= (p.Ile2393=) n.5442A= c.8400A= (p.Ile2800=) c.7779A= (p.Ile2593=) c.8499A= (p.Ile2833=) c.8997A= (p.Ile2999=) c.6594A= (p.Ile2198=) | |
2 | g.237334856A= | CA1337606490 | COL6A3 | c.1610+1279T= c.8381T= (p.Ile2794=) c.1126T= c.8999T= (p.Ile3000=) c.7175T= (p.Ile2392=) c.7178T= (p.Ile2393=) n.5441T= c.8399T= (p.Ile2800=) c.7778T= (p.Ile2593=) c.8498T= (p.Ile2833=) c.8996T= (p.Ile2999=) c.6593T= (p.Ile2198=) | |
2 | g.237334856A>C | CA351189419 | COL6A3 | c.1610+1279T>G c.8381T>G (p.Ile2794Arg) c.1126T>G c.8999T>G (p.Ile3000Arg) c.7175T>G (p.Ile2392Arg) c.7178T>G (p.Ile2393Arg) n.5441T>G c.8399T>G (p.Ile2800Arg) c.7778T>G (p.Ile2593Arg) c.8498T>G (p.Ile2833Arg) c.8996T>G (p.Ile2999Arg) c.6593T>G (p.Ile2198Arg) | |
2 | g.237334856A>G | CA351189434 | COL6A3 | c.1610+1279T>C c.8381T>C (p.Ile2794Thr) c.1126T>C c.8999T>C (p.Ile3000Thr) c.7175T>C (p.Ile2392Thr) c.7178T>C (p.Ile2393Thr) n.5441T>C c.8399T>C (p.Ile2800Thr) c.7778T>C (p.Ile2593Thr) c.8498T>C (p.Ile2833Thr) c.8996T>C (p.Ile2999Thr) c.6593T>C (p.Ile2198Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334856A>T | CA351189438 | COL6A3 | c.1610+1279T>A c.8381T>A (p.Ile2794Lys) c.1126T>A c.8999T>A (p.Ile3000Lys) c.7175T>A (p.Ile2392Lys) c.7178T>A (p.Ile2393Lys) n.5441T>A c.8399T>A (p.Ile2800Lys) c.7778T>A (p.Ile2593Lys) c.8498T>A (p.Ile2833Lys) c.8996T>A (p.Ile2999Lys) c.6593T>A (p.Ile2198Lys) | |
2 | g.237334857T>A | CA351189443 | COL6A3 | c.1610+1278A>T c.8380A>T (p.Ile2794Leu) c.1125A>T c.8998A>T (p.Ile3000Leu) c.7174A>T (p.Ile2392Leu) c.7177A>T (p.Ile2393Leu) n.5440A>T c.8398A>T (p.Ile2800Leu) c.7777A>T (p.Ile2593Leu) c.8497A>T (p.Ile2833Leu) c.8995A>T (p.Ile2999Leu) c.6592A>T (p.Ile2198Leu) | |
2 | g.237334857T>C | CA351189446 | COL6A3 | c.1610+1278A>G c.8380A>G (p.Ile2794Val) c.1125A>G c.8998A>G (p.Ile3000Val) c.7174A>G (p.Ile2392Val) c.7177A>G (p.Ile2393Val) n.5440A>G c.8398A>G (p.Ile2800Val) c.7777A>G (p.Ile2593Val) c.8497A>G (p.Ile2833Val) c.8995A>G (p.Ile2999Val) c.6592A>G (p.Ile2198Val) | gnomAD v4 |
2 | g.237334857T>G | CA351189449 | COL6A3 | c.1610+1278A>C c.8380A>C (p.Ile2794Leu) c.1125A>C c.8998A>C (p.Ile3000Leu) c.7174A>C (p.Ile2392Leu) c.7177A>C (p.Ile2393Leu) n.5440A>C c.8398A>C (p.Ile2800Leu) c.7777A>C (p.Ile2593Leu) c.8497A>C (p.Ile2833Leu) c.8995A>C (p.Ile2999Leu) c.6592A>C (p.Ile2198Leu) | |
2 | g.237334858C>A | CA351189453 | COL6A3 | c.1610+1277G>T c.8379G>T (p.Glu2793Asp) c.1124G>T c.8997G>T (p.Glu2999Asp) c.7173G>T (p.Glu2391Asp) c.7176G>T (p.Glu2392Asp) n.5439G>T c.8397G>T (p.Glu2799Asp) c.7776G>T (p.Glu2592Asp) c.8496G>T (p.Glu2832Asp) c.8994G>T (p.Glu2998Asp) c.6591G>T (p.Glu2197Asp) | |
2 | g.237334858C>G | CA351189457 | COL6A3 | c.1610+1277G>C c.8379G>C (p.Glu2793Asp) c.1124G>C c.8997G>C (p.Glu2999Asp) c.7173G>C (p.Glu2391Asp) c.7176G>C (p.Glu2392Asp) n.5439G>C c.8397G>C (p.Glu2799Asp) c.7776G>C (p.Glu2592Asp) c.8496G>C (p.Glu2832Asp) c.8994G>C (p.Glu2998Asp) c.6591G>C (p.Glu2197Asp) | |
2 | g.237334858C>T | CA431699187 | COL6A3 | c.1610+1277G>A c.8379G>A (p.Glu2793=) c.1124G>A c.8997G>A (p.Glu2999=) c.7173G>A (p.Glu2391=) c.7176G>A (p.Glu2392=) n.5439G>A c.8397G>A (p.Glu2799=) c.7776G>A (p.Glu2592=) c.8496G>A (p.Glu2832=) c.8994G>A (p.Glu2998=) c.6591G>A (p.Glu2197=) | ClinVar dbSNP gnomAD v4 |
2 | g.237334859T>A | CA351189467 | COL6A3 | c.1610+1276A>T c.8378A>T (p.Glu2793Val) c.1123A>T c.8996A>T (p.Glu2999Val) c.7172A>T (p.Glu2391Val) c.7175A>T (p.Glu2392Val) n.5438A>T c.8396A>T (p.Glu2799Val) c.7775A>T (p.Glu2592Val) c.8495A>T (p.Glu2832Val) c.8993A>T (p.Glu2998Val) c.6590A>T (p.Glu2197Val) | |
2 | g.237334859T>C | CA2187386 | COL6A3 | c.1610+1276A>G c.8378A>G (p.Glu2793Gly) c.1123A>G c.8996A>G (p.Glu2999Gly) c.7172A>G (p.Glu2391Gly) c.7175A>G (p.Glu2392Gly) n.5438A>G c.8396A>G (p.Glu2799Gly) c.7775A>G (p.Glu2592Gly) c.8495A>G (p.Glu2832Gly) c.8993A>G (p.Glu2998Gly) c.6590A>G (p.Glu2197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334859T>G | CA351189465 | COL6A3 | c.1610+1276A>C c.8378A>C (p.Glu2793Ala) c.1123A>C c.8996A>C (p.Glu2999Ala) c.7172A>C (p.Glu2391Ala) c.7175A>C (p.Glu2392Ala) n.5438A>C c.8396A>C (p.Glu2799Ala) c.7775A>C (p.Glu2592Ala) c.8495A>C (p.Glu2832Ala) c.8993A>C (p.Glu2998Ala) c.6590A>C (p.Glu2197Ala) | |
2 | g.237334859T= | CA1337606491 | COL6A3 | c.1610+1276A= c.8378A= (p.Glu2793=) c.1123A= c.8996A= (p.Glu2999=) c.7172A= (p.Glu2391=) c.7175A= (p.Glu2392=) n.5438A= c.8396A= (p.Glu2799=) c.7775A= (p.Glu2592=) c.8495A= (p.Glu2832=) c.8993A= (p.Glu2998=) c.6590A= (p.Glu2197=) | |
2 | g.237334860C>A | CA351189476 | COL6A3 | c.1610+1275G>T c.8377G>T (p.Glu2793Ter) c.1122G>T c.8995G>T (p.Glu2999Ter) c.7171G>T (p.Glu2391Ter) c.7174G>T (p.Glu2392Ter) n.5437G>T c.8395G>T (p.Glu2799Ter) c.7774G>T (p.Glu2592Ter) c.8494G>T (p.Glu2832Ter) c.8992G>T (p.Glu2998Ter) c.6589G>T (p.Glu2197Ter) | |
2 | g.237334860C>G | CA351189480 | COL6A3 | c.1610+1275G>C c.8377G>C (p.Glu2793Gln) c.1122G>C c.8995G>C (p.Glu2999Gln) c.7171G>C (p.Glu2391Gln) c.7174G>C (p.Glu2392Gln) n.5437G>C c.8395G>C (p.Glu2799Gln) c.7774G>C (p.Glu2592Gln) c.8494G>C (p.Glu2832Gln) c.8992G>C (p.Glu2998Gln) c.6589G>C (p.Glu2197Gln) | |
2 | g.237334860C>T | CA351189482 | COL6A3 | c.1610+1275G>A c.8377G>A (p.Glu2793Lys) c.1122G>A c.8995G>A (p.Glu2999Lys) c.7171G>A (p.Glu2391Lys) c.7174G>A (p.Glu2392Lys) n.5437G>A c.8395G>A (p.Glu2799Lys) c.7774G>A (p.Glu2592Lys) c.8494G>A (p.Glu2832Lys) c.8992G>A (p.Glu2998Lys) c.6589G>A (p.Glu2197Lys) | |
2 | g.237334861A>C | CA351189486 | COL6A3 | c.1610+1274T>G c.8376T>G (p.Phe2792Leu) c.1121T>G c.8994T>G (p.Phe2998Leu) c.7170T>G (p.Phe2390Leu) c.7173T>G (p.Phe2391Leu) n.5436T>G c.8394T>G (p.Phe2798Leu) c.7773T>G (p.Phe2591Leu) c.8493T>G (p.Phe2831Leu) c.8991T>G (p.Phe2997Leu) c.6588T>G (p.Phe2196Leu) | gnomAD v4 |
2 | g.237334861A>G | CA431699188 | COL6A3 | c.1610+1274T>C c.8376T>C (p.Phe2792=) c.1121T>C c.8994T>C (p.Phe2998=) c.7170T>C (p.Phe2390=) c.7173T>C (p.Phe2391=) n.5436T>C c.8394T>C (p.Phe2798=) c.7773T>C (p.Phe2591=) c.8493T>C (p.Phe2831=) c.8991T>C (p.Phe2997=) c.6588T>C (p.Phe2196=) | gnomAD v4 |
2 | g.237334861A>T | CA351189490 | COL6A3 | c.1610+1274T>A c.8376T>A (p.Phe2792Leu) c.1121T>A c.8994T>A (p.Phe2998Leu) c.7170T>A (p.Phe2390Leu) c.7173T>A (p.Phe2391Leu) n.5436T>A c.8394T>A (p.Phe2798Leu) c.7773T>A (p.Phe2591Leu) c.8493T>A (p.Phe2831Leu) c.8991T>A (p.Phe2997Leu) c.6588T>A (p.Phe2196Leu) | |
2 | g.237334862A= | CA1337606492 | COL6A3 | c.1610+1273T= c.8375T= (p.Phe2792=) c.1120T= c.8993T= (p.Phe2998=) c.7169T= (p.Phe2390=) c.7172T= (p.Phe2391=) n.5435T= c.8393T= (p.Phe2798=) c.7772T= (p.Phe2591=) c.8492T= (p.Phe2831=) c.8990T= (p.Phe2997=) c.6587T= (p.Phe2196=) | |
2 | g.237334862A>C | CA351189494 | COL6A3 | c.1610+1273T>G c.8375T>G (p.Phe2792Cys) c.1120T>G c.8993T>G (p.Phe2998Cys) c.7169T>G (p.Phe2390Cys) c.7172T>G (p.Phe2391Cys) n.5435T>G c.8393T>G (p.Phe2798Cys) c.7772T>G (p.Phe2591Cys) c.8492T>G (p.Phe2831Cys) c.8990T>G (p.Phe2997Cys) c.6587T>G (p.Phe2196Cys) | |
2 | g.237334862A>G | CA351189497 | COL6A3 | c.1610+1273T>C c.8375T>C (p.Phe2792Ser) c.1120T>C c.8993T>C (p.Phe2998Ser) c.7169T>C (p.Phe2390Ser) c.7172T>C (p.Phe2391Ser) n.5435T>C c.8393T>C (p.Phe2798Ser) c.7772T>C (p.Phe2591Ser) c.8492T>C (p.Phe2831Ser) c.8990T>C (p.Phe2997Ser) c.6587T>C (p.Phe2196Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.237334862A>T | CA351189510 | COL6A3 | c.1610+1273T>A c.8375T>A (p.Phe2792Tyr) c.1120T>A c.8993T>A (p.Phe2998Tyr) c.7169T>A (p.Phe2390Tyr) c.7172T>A (p.Phe2391Tyr) n.5435T>A c.8393T>A (p.Phe2798Tyr) c.7772T>A (p.Phe2591Tyr) c.8492T>A (p.Phe2831Tyr) c.8990T>A (p.Phe2997Tyr) c.6587T>A (p.Phe2196Tyr) | |
2 | g.237334863A>C | CA351189516 | COL6A3 | c.1610+1272T>G c.8374T>G (p.Phe2792Val) c.1119T>G c.8992T>G (p.Phe2998Val) c.7168T>G (p.Phe2390Val) c.7171T>G (p.Phe2391Val) n.5434T>G c.8392T>G (p.Phe2798Val) c.7771T>G (p.Phe2591Val) c.8491T>G (p.Phe2831Val) c.8989T>G (p.Phe2997Val) c.6586T>G (p.Phe2196Val) | |
2 | g.237334863A>G | CA351189519 | COL6A3 | c.1610+1272T>C c.8374T>C (p.Phe2792Leu) c.1119T>C c.8992T>C (p.Phe2998Leu) c.7168T>C (p.Phe2390Leu) c.7171T>C (p.Phe2391Leu) n.5434T>C c.8392T>C (p.Phe2798Leu) c.7771T>C (p.Phe2591Leu) c.8491T>C (p.Phe2831Leu) c.8989T>C (p.Phe2997Leu) c.6586T>C (p.Phe2196Leu) | |
2 | g.237334863A>T | CA351189523 | COL6A3 | c.1610+1272T>A c.8374T>A (p.Phe2792Ile) c.1119T>A c.8992T>A (p.Phe2998Ile) c.7168T>A (p.Phe2390Ile) c.7171T>A (p.Phe2391Ile) n.5434T>A c.8392T>A (p.Phe2798Ile) c.7771T>A (p.Phe2591Ile) c.8491T>A (p.Phe2831Ile) c.8989T>A (p.Phe2997Ile) c.6586T>A (p.Phe2196Ile) | |
2 | g.237334864C>A | CA431699189 | COL6A3 | c.1610+1271G>T c.8373G>T (p.Val2791=) c.1118G>T c.8991G>T (p.Val2997=) c.7167G>T (p.Val2389=) c.7170G>T (p.Val2390=) n.5433G>T c.8391G>T (p.Val2797=) c.7770G>T (p.Val2590=) c.8490G>T (p.Val2830=) c.8988G>T (p.Val2996=) c.6585G>T (p.Val2195=) | |
2 | g.237334864C>G | CA431699190 | COL6A3 | c.1610+1271G>C c.8373G>C (p.Val2791=) c.1118G>C c.8991G>C (p.Val2997=) c.7167G>C (p.Val2389=) c.7170G>C (p.Val2390=) n.5433G>C c.8391G>C (p.Val2797=) c.7770G>C (p.Val2590=) c.8490G>C (p.Val2830=) c.8988G>C (p.Val2996=) c.6585G>C (p.Val2195=) | |
2 | g.237334864C>T | CA431699191 | COL6A3 | c.1610+1271G>A c.8373G>A (p.Val2791=) c.1118G>A c.8991G>A (p.Val2997=) c.7167G>A (p.Val2389=) c.7170G>A (p.Val2390=) n.5433G>A c.8391G>A (p.Val2797=) c.7770G>A (p.Val2590=) c.8490G>A (p.Val2830=) c.8988G>A (p.Val2996=) c.6585G>A (p.Val2195=) | |
2 | g.237334865A>C | CA351189532 | COL6A3 | c.1610+1270T>G c.8372T>G (p.Val2791Gly) c.1117T>G c.8990T>G (p.Val2997Gly) c.7166T>G (p.Val2389Gly) c.7169T>G (p.Val2390Gly) n.5432T>G c.8390T>G (p.Val2797Gly) c.7769T>G (p.Val2590Gly) c.8489T>G (p.Val2830Gly) c.8987T>G (p.Val2996Gly) c.6584T>G (p.Val2195Gly) | |
2 | g.237334865A>G | CA351189533 | COL6A3 | c.1610+1270T>C c.8372T>C (p.Val2791Ala) c.1117T>C c.8990T>C (p.Val2997Ala) c.7166T>C (p.Val2389Ala) c.7169T>C (p.Val2390Ala) n.5432T>C c.8390T>C (p.Val2797Ala) c.7769T>C (p.Val2590Ala) c.8489T>C (p.Val2830Ala) c.8987T>C (p.Val2996Ala) c.6584T>C (p.Val2195Ala) | |
2 | g.237334865A>T | CA351189528 | COL6A3 | c.1610+1270T>A c.8372T>A (p.Val2791Glu) c.1117T>A c.8990T>A (p.Val2997Glu) c.7166T>A (p.Val2389Glu) c.7169T>A (p.Val2390Glu) n.5432T>A c.8390T>A (p.Val2797Glu) c.7769T>A (p.Val2590Glu) c.8489T>A (p.Val2830Glu) c.8987T>A (p.Val2996Glu) c.6584T>A (p.Val2195Glu) | |
2 | g.237334866C>A | CA2187387 | COL6A3 | c.1610+1269G>T c.8371G>T (p.Val2791Leu) c.1116G>T c.8989G>T (p.Val2997Leu) c.7165G>T (p.Val2389Leu) c.7168G>T (p.Val2390Leu) n.5431G>T c.8389G>T (p.Val2797Leu) c.7768G>T (p.Val2590Leu) c.8488G>T (p.Val2830Leu) c.8986G>T (p.Val2996Leu) c.6583G>T (p.Val2195Leu) | dbSNP ExAC |
2 | g.237334866C= | CA1337606493 | COL6A3 | c.1610+1269G= c.8371G= (p.Val2791=) c.1116G= c.8989G= (p.Val2997=) c.7165G= (p.Val2389=) c.7168G= (p.Val2390=) n.5431G= c.8389G= (p.Val2797=) c.7768G= (p.Val2590=) c.8488G= (p.Val2830=) c.8986G= (p.Val2996=) c.6583G= (p.Val2195=) | |
2 | g.237334866C>G | CA351189534 | COL6A3 | c.1610+1269G>C c.8371G>C (p.Val2791Leu) c.1116G>C c.8989G>C (p.Val2997Leu) c.7165G>C (p.Val2389Leu) c.7168G>C (p.Val2390Leu) n.5431G>C c.8389G>C (p.Val2797Leu) c.7768G>C (p.Val2590Leu) c.8488G>C (p.Val2830Leu) c.8986G>C (p.Val2996Leu) c.6583G>C (p.Val2195Leu) | |
2 | g.237334866C>T | CA351189537 | COL6A3 | c.1610+1269G>A c.8371G>A (p.Val2791Met) c.1116G>A c.8989G>A (p.Val2997Met) c.7165G>A (p.Val2389Met) c.7168G>A (p.Val2390Met) n.5431G>A c.8389G>A (p.Val2797Met) c.7768G>A (p.Val2590Met) c.8488G>A (p.Val2830Met) c.8986G>A (p.Val2996Met) c.6583G>A (p.Val2195Met) | |
2 | g.237334867C>A | CA351189539 | COL6A3 | c.1610+1268G>T c.8370G>T (p.Gln2790His) c.1115G>T c.8988G>T (p.Gln2996His) c.7164G>T (p.Gln2388His) c.7167G>T (p.Gln2389His) n.5430G>T c.8388G>T (p.Gln2796His) c.7767G>T (p.Gln2589His) c.8487G>T (p.Gln2829His) c.8985G>T (p.Gln2995His) c.6582G>T (p.Gln2194His) | |
2 | g.237334867C= | CA1337606494 | COL6A3 | c.1610+1268G= c.8370G= (p.Gln2790=) c.1115G= c.8988G= (p.Gln2996=) c.7164G= (p.Gln2388=) c.7167G= (p.Gln2389=) n.5430G= c.8388G= (p.Gln2796=) c.7767G= (p.Gln2589=) c.8487G= (p.Gln2829=) c.8985G= (p.Gln2995=) c.6582G= (p.Gln2194=) | |
2 | g.237334867C>G | CA2187388 | COL6A3 | c.1610+1268G>C c.8370G>C (p.Gln2790His) c.1115G>C c.8988G>C (p.Gln2996His) c.7164G>C (p.Gln2388His) c.7167G>C (p.Gln2389His) n.5430G>C c.8388G>C (p.Gln2796His) c.7767G>C (p.Gln2589His) c.8487G>C (p.Gln2829His) c.8985G>C (p.Gln2995His) c.6582G>C (p.Gln2194His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334867C>T | CA431699192 | COL6A3 | c.1610+1268G>A c.8370G>A (p.Gln2790=) c.1115G>A c.8988G>A (p.Gln2996=) c.7164G>A (p.Gln2388=) c.7167G>A (p.Gln2389=) n.5430G>A c.8388G>A (p.Gln2796=) c.7767G>A (p.Gln2589=) c.8487G>A (p.Gln2829=) c.8985G>A (p.Gln2995=) c.6582G>A (p.Gln2194=) | |
2 | g.237334868T>A | CA351189557 | COL6A3 | c.1610+1267A>T c.8369A>T (p.Gln2790Leu) c.1114A>T c.8987A>T (p.Gln2996Leu) c.7163A>T (p.Gln2388Leu) c.7166A>T (p.Gln2389Leu) n.5429A>T c.8387A>T (p.Gln2796Leu) c.7766A>T (p.Gln2589Leu) c.8486A>T (p.Gln2829Leu) c.8984A>T (p.Gln2995Leu) c.6581A>T (p.Gln2194Leu) | |
2 | g.237334868T>C | CA351189549 | COL6A3 | c.1610+1267A>G c.8369A>G (p.Gln2790Arg) c.1114A>G c.8987A>G (p.Gln2996Arg) c.7163A>G (p.Gln2388Arg) c.7166A>G (p.Gln2389Arg) n.5429A>G c.8387A>G (p.Gln2796Arg) c.7766A>G (p.Gln2589Arg) c.8486A>G (p.Gln2829Arg) c.8984A>G (p.Gln2995Arg) c.6581A>G (p.Gln2194Arg) | ClinVar |
2 | g.237334868T>G | CA351189551 | COL6A3 | c.1610+1267A>C c.8369A>C (p.Gln2790Pro) c.1114A>C c.8987A>C (p.Gln2996Pro) c.7163A>C (p.Gln2388Pro) c.7166A>C (p.Gln2389Pro) n.5429A>C c.8387A>C (p.Gln2796Pro) c.7766A>C (p.Gln2589Pro) c.8486A>C (p.Gln2829Pro) c.8984A>C (p.Gln2995Pro) c.6581A>C (p.Gln2194Pro) | |
2 | g.237334869G>A | CA351189562 | COL6A3 | c.1610+1266C>T c.8368C>T (p.Gln2790Ter) c.1113C>T c.8986C>T (p.Gln2996Ter) c.7162C>T (p.Gln2388Ter) c.7165C>T (p.Gln2389Ter) n.5428C>T c.8386C>T (p.Gln2796Ter) c.7765C>T (p.Gln2589Ter) c.8485C>T (p.Gln2829Ter) c.8983C>T (p.Gln2995Ter) c.6580C>T (p.Gln2194Ter) | dbSNP |
2 | g.237334869G>C | CA351189564 | COL6A3 | c.1610+1266C>G c.8368C>G (p.Gln2790Glu) c.1113C>G c.8986C>G (p.Gln2996Glu) c.7162C>G (p.Gln2388Glu) c.7165C>G (p.Gln2389Glu) n.5428C>G c.8386C>G (p.Gln2796Glu) c.7765C>G (p.Gln2589Glu) c.8485C>G (p.Gln2829Glu) c.8983C>G (p.Gln2995Glu) c.6580C>G (p.Gln2194Glu) | |
2 | g.237334869G= | CA1337606495 | COL6A3 | c.1610+1266C= c.8368C= (p.Gln2790=) c.1113C= c.8986C= (p.Gln2996=) c.7162C= (p.Gln2388=) c.7165C= (p.Gln2389=) n.5428C= c.8386C= (p.Gln2796=) c.7765C= (p.Gln2589=) c.8485C= (p.Gln2829=) c.8983C= (p.Gln2995=) c.6580C= (p.Gln2194=) | |
2 | g.237334869G>T | CA351189567 | COL6A3 | c.1610+1266C>A c.8368C>A (p.Gln2790Lys) c.1113C>A c.8986C>A (p.Gln2996Lys) c.7162C>A (p.Gln2388Lys) c.7165C>A (p.Gln2389Lys) n.5428C>A c.8386C>A (p.Gln2796Lys) c.7765C>A (p.Gln2589Lys) c.8485C>A (p.Gln2829Lys) c.8983C>A (p.Gln2995Lys) c.6580C>A (p.Gln2194Lys) | |
2 | g.237334870G>A | CA431699193 | COL6A3 | c.1610+1265C>T c.8367C>T (p.Val2789=) c.1112C>T c.8985C>T (p.Val2995=) c.7161C>T (p.Val2387=) c.7164C>T (p.Val2388=) n.5427C>T c.8385C>T (p.Val2795=) c.7764C>T (p.Val2588=) c.8484C>T (p.Val2828=) c.8982C>T (p.Val2994=) c.6579C>T (p.Val2193=) | |
2 | g.237334870G>C | CA431699195 | COL6A3 | c.1610+1265C>G c.8367C>G (p.Val2789=) c.1112C>G c.8985C>G (p.Val2995=) c.7161C>G (p.Val2387=) c.7164C>G (p.Val2388=) n.5427C>G c.8385C>G (p.Val2795=) c.7764C>G (p.Val2588=) c.8484C>G (p.Val2828=) c.8982C>G (p.Val2994=) c.6579C>G (p.Val2193=) | ClinVar dbSNP gnomAD v4 |
2 | g.237334870G>T | CA431699194 | COL6A3 | c.1610+1265C>A c.8367C>A (p.Val2789=) c.1112C>A c.8985C>A (p.Val2995=) c.7161C>A (p.Val2387=) c.7164C>A (p.Val2388=) n.5427C>A c.8385C>A (p.Val2795=) c.7764C>A (p.Val2588=) c.8484C>A (p.Val2828=) c.8982C>A (p.Val2994=) c.6579C>A (p.Val2193=) | |
2 | g.237334871A>C | CA351189571 | COL6A3 | c.1610+1264T>G c.8366T>G (p.Val2789Gly) c.1111T>G c.8984T>G (p.Val2995Gly) c.7160T>G (p.Val2387Gly) c.7163T>G (p.Val2388Gly) n.5426T>G c.8384T>G (p.Val2795Gly) c.7763T>G (p.Val2588Gly) c.8483T>G (p.Val2828Gly) c.8981T>G (p.Val2994Gly) c.6578T>G (p.Val2193Gly) | |
2 | g.237334871A>G | CA351189574 | COL6A3 | c.1610+1264T>C c.8366T>C (p.Val2789Ala) c.1111T>C c.8984T>C (p.Val2995Ala) c.7160T>C (p.Val2387Ala) c.7163T>C (p.Val2388Ala) n.5426T>C c.8384T>C (p.Val2795Ala) c.7763T>C (p.Val2588Ala) c.8483T>C (p.Val2828Ala) c.8981T>C (p.Val2994Ala) c.6578T>C (p.Val2193Ala) | gnomAD v4 |
2 | g.237334871A>T | CA351189578 | COL6A3 | c.1610+1264T>A c.8366T>A (p.Val2789Asp) c.1111T>A c.8984T>A (p.Val2995Asp) c.7160T>A (p.Val2387Asp) c.7163T>A (p.Val2388Asp) n.5426T>A c.8384T>A (p.Val2795Asp) c.7763T>A (p.Val2588Asp) c.8483T>A (p.Val2828Asp) c.8981T>A (p.Val2994Asp) c.6578T>A (p.Val2193Asp) | |
2 | g.237334872C>A | CA351189584 | COL6A3 | c.1610+1263G>T c.8365G>T (p.Val2789Phe) c.1110G>T c.8983G>T (p.Val2995Phe) c.7159G>T (p.Val2387Phe) c.7162G>T (p.Val2388Phe) n.5425G>T c.8383G>T (p.Val2795Phe) c.7762G>T (p.Val2588Phe) c.8482G>T (p.Val2828Phe) c.8980G>T (p.Val2994Phe) c.6577G>T (p.Val2193Phe) | COSMIC |
2 | g.237334872C>G | CA351189587 | COL6A3 | c.1610+1263G>C c.8365G>C (p.Val2789Leu) c.1110G>C c.8983G>C (p.Val2995Leu) c.7159G>C (p.Val2387Leu) c.7162G>C (p.Val2388Leu) n.5425G>C c.8383G>C (p.Val2795Leu) c.7762G>C (p.Val2588Leu) c.8482G>C (p.Val2828Leu) c.8980G>C (p.Val2994Leu) c.6577G>C (p.Val2193Leu) | |
2 | g.237334872C>T | CA351189581 | COL6A3 | c.1610+1263G>A c.8365G>A (p.Val2789Ile) c.1110G>A c.8983G>A (p.Val2995Ile) c.7159G>A (p.Val2387Ile) c.7162G>A (p.Val2388Ile) n.5425G>A c.8383G>A (p.Val2795Ile) c.7762G>A (p.Val2588Ile) c.8482G>A (p.Val2828Ile) c.8980G>A (p.Val2994Ile) c.6577G>A (p.Val2193Ile) | |
2 | g.237334873T>A | CA351189595 | COL6A3 | c.1610+1262A>T c.8364A>T (p.Glu2788Asp) c.1109A>T c.8982A>T (p.Glu2994Asp) c.7158A>T (p.Glu2386Asp) c.7161A>T (p.Glu2387Asp) n.5424A>T c.8382A>T (p.Glu2794Asp) c.7761A>T (p.Glu2587Asp) c.8481A>T (p.Glu2827Asp) c.8979A>T (p.Glu2993Asp) c.6576A>T (p.Glu2192Asp) | |
2 | g.237334873T>C | CA431699196 | COL6A3 | c.1610+1262A>G c.8364A>G (p.Glu2788=) c.1109A>G c.8982A>G (p.Glu2994=) c.7158A>G (p.Glu2386=) c.7161A>G (p.Glu2387=) n.5424A>G c.8382A>G (p.Glu2794=) c.7761A>G (p.Glu2587=) c.8481A>G (p.Glu2827=) c.8979A>G (p.Glu2993=) c.6576A>G (p.Glu2192=) | |
2 | g.237334873T>G | CA351189592 | COL6A3 | c.1610+1262A>C c.8364A>C (p.Glu2788Asp) c.1109A>C c.8982A>C (p.Glu2994Asp) c.7158A>C (p.Glu2386Asp) c.7161A>C (p.Glu2387Asp) n.5424A>C c.8382A>C (p.Glu2794Asp) c.7761A>C (p.Glu2587Asp) c.8481A>C (p.Glu2827Asp) c.8979A>C (p.Glu2993Asp) c.6576A>C (p.Glu2192Asp) | |
2 | g.237334874T>A | CA351189598 | COL6A3 | c.1610+1261A>T c.8363A>T (p.Glu2788Val) c.1108A>T c.8981A>T (p.Glu2994Val) c.7157A>T (p.Glu2386Val) c.7160A>T (p.Glu2387Val) n.5423A>T c.8381A>T (p.Glu2794Val) c.7760A>T (p.Glu2587Val) c.8480A>T (p.Glu2827Val) c.8978A>T (p.Glu2993Val) c.6575A>T (p.Glu2192Val) | gnomAD v4 |
2 | g.237334874T>C | CA351189602 | COL6A3 | c.1610+1261A>G c.8363A>G (p.Glu2788Gly) c.1108A>G c.8981A>G (p.Glu2994Gly) c.7157A>G (p.Glu2386Gly) c.7160A>G (p.Glu2387Gly) n.5423A>G c.8381A>G (p.Glu2794Gly) c.7760A>G (p.Glu2587Gly) c.8480A>G (p.Glu2827Gly) c.8978A>G (p.Glu2993Gly) c.6575A>G (p.Glu2192Gly) | |
2 | g.237334874T>G | CA351189607 | COL6A3 | c.1610+1261A>C c.8363A>C (p.Glu2788Ala) c.1108A>C c.8981A>C (p.Glu2994Ala) c.7157A>C (p.Glu2386Ala) c.7160A>C (p.Glu2387Ala) n.5423A>C c.8381A>C (p.Glu2794Ala) c.7760A>C (p.Glu2587Ala) c.8480A>C (p.Glu2827Ala) c.8978A>C (p.Glu2993Ala) c.6575A>C (p.Glu2192Ala) | |
2 | g.237334875C>A | CA351189612 | COL6A3 | c.1610+1260G>T c.8362G>T (p.Glu2788Ter) c.1107G>T c.8980G>T (p.Glu2994Ter) c.7156G>T (p.Glu2386Ter) c.7159G>T (p.Glu2387Ter) n.5422G>T c.8380G>T (p.Glu2794Ter) c.7759G>T (p.Glu2587Ter) c.8479G>T (p.Glu2827Ter) c.8977G>T (p.Glu2993Ter) c.6574G>T (p.Glu2192Ter) | |
2 | g.237334875C>G | CA351189617 | COL6A3 | c.1610+1260G>C c.8362G>C (p.Glu2788Gln) c.1107G>C c.8980G>C (p.Glu2994Gln) c.7156G>C (p.Glu2386Gln) c.7159G>C (p.Glu2387Gln) n.5422G>C c.8380G>C (p.Glu2794Gln) c.7759G>C (p.Glu2587Gln) c.8479G>C (p.Glu2827Gln) c.8977G>C (p.Glu2993Gln) c.6574G>C (p.Glu2192Gln) | |
2 | g.237334875C>T | CA351189619 | COL6A3 | c.1610+1260G>A c.8362G>A (p.Glu2788Lys) c.1107G>A c.8980G>A (p.Glu2994Lys) c.7156G>A (p.Glu2386Lys) c.7159G>A (p.Glu2387Lys) n.5422G>A c.8380G>A (p.Glu2794Lys) c.7759G>A (p.Glu2587Lys) c.8479G>A (p.Glu2827Lys) c.8977G>A (p.Glu2993Lys) c.6574G>A (p.Glu2192Lys) | |
2 | g.237334876A>C | CA431699197 | COL6A3 | c.1610+1259T>G c.8361T>G (p.Arg2787=) c.1106T>G c.8979T>G (p.Arg2993=) c.7155T>G (p.Arg2385=) c.7158T>G (p.Arg2386=) n.5421T>G c.8379T>G (p.Arg2793=) c.7758T>G (p.Arg2586=) c.8478T>G (p.Arg2826=) c.8976T>G (p.Arg2992=) c.6573T>G (p.Arg2191=) | |
2 | g.237334876A>G | CA431699198 | COL6A3 | c.1610+1259T>C c.8361T>C (p.Arg2787=) c.1106T>C c.8979T>C (p.Arg2993=) c.7155T>C (p.Arg2385=) c.7158T>C (p.Arg2386=) n.5421T>C c.8379T>C (p.Arg2793=) c.7758T>C (p.Arg2586=) c.8478T>C (p.Arg2826=) c.8976T>C (p.Arg2992=) c.6573T>C (p.Arg2191=) | |
2 | g.237334876A>T | CA431699199 | COL6A3 | c.1610+1259T>A c.8361T>A (p.Arg2787=) c.1106T>A c.8979T>A (p.Arg2993=) c.7155T>A (p.Arg2385=) c.7158T>A (p.Arg2386=) n.5421T>A c.8379T>A (p.Arg2793=) c.7758T>A (p.Arg2586=) c.8478T>A (p.Arg2826=) c.8976T>A (p.Arg2992=) c.6573T>A (p.Arg2191=) | |
2 | g.237334877C>A | CA351189620 | COL6A3 | c.1610+1258G>T c.8360G>T (p.Arg2787Leu) c.1105G>T c.8978G>T (p.Arg2993Leu) c.7154G>T (p.Arg2385Leu) c.7157G>T (p.Arg2386Leu) n.5420G>T c.8378G>T (p.Arg2793Leu) c.7757G>T (p.Arg2586Leu) c.8477G>T (p.Arg2826Leu) c.8975G>T (p.Arg2992Leu) c.6572G>T (p.Arg2191Leu) | |
2 | g.237334877C= | CA1337606496 | COL6A3 | c.1610+1258G= c.8360G= (p.Arg2787=) c.1105G= c.8978G= (p.Arg2993=) c.7154G= (p.Arg2385=) c.7157G= (p.Arg2386=) n.5420G= c.8378G= (p.Arg2793=) c.7757G= (p.Arg2586=) c.8477G= (p.Arg2826=) c.8975G= (p.Arg2992=) c.6572G= (p.Arg2191=) | |
2 | g.237334877C>G | CA351189623 | COL6A3 | c.1610+1258G>C c.8360G>C (p.Arg2787Pro) c.1105G>C c.8978G>C (p.Arg2993Pro) c.7154G>C (p.Arg2385Pro) c.7157G>C (p.Arg2386Pro) n.5420G>C c.8378G>C (p.Arg2793Pro) c.7757G>C (p.Arg2586Pro) c.8477G>C (p.Arg2826Pro) c.8975G>C (p.Arg2992Pro) c.6572G>C (p.Arg2191Pro) | |
2 | g.237334877C>T | CA2187389 | COL6A3 | c.1610+1258G>A c.8360G>A (p.Arg2787His) c.1105G>A c.8978G>A (p.Arg2993His) c.7154G>A (p.Arg2385His) c.7157G>A (p.Arg2386His) n.5420G>A c.8378G>A (p.Arg2793His) c.7757G>A (p.Arg2586His) c.8477G>A (p.Arg2826His) c.8975G>A (p.Arg2992His) c.6572G>A (p.Arg2191His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334878G>A | CA2187390 | COL6A3 | c.1610+1257C>T c.8359C>T (p.Arg2787Cys) c.1104C>T c.8977C>T (p.Arg2993Cys) c.7153C>T (p.Arg2385Cys) c.7156C>T (p.Arg2386Cys) n.5419C>T c.8377C>T (p.Arg2793Cys) c.7756C>T (p.Arg2586Cys) c.8476C>T (p.Arg2826Cys) c.8974C>T (p.Arg2992Cys) c.6571C>T (p.Arg2191Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334878G>C | CA2187391 | COL6A3 | c.1610+1257C>G c.8359C>G (p.Arg2787Gly) c.1104C>G c.8977C>G (p.Arg2993Gly) c.7153C>G (p.Arg2385Gly) c.7156C>G (p.Arg2386Gly) n.5419C>G c.8377C>G (p.Arg2793Gly) c.7756C>G (p.Arg2586Gly) c.8476C>G (p.Arg2826Gly) c.8974C>G (p.Arg2992Gly) c.6571C>G (p.Arg2191Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334878G= | CA1337606497 | COL6A3 | c.1610+1257C= c.8359C= (p.Arg2787=) c.1104C= c.8977C= (p.Arg2993=) c.7153C= (p.Arg2385=) c.7156C= (p.Arg2386=) n.5419C= c.8377C= (p.Arg2793=) c.7756C= (p.Arg2586=) c.8476C= (p.Arg2826=) c.8974C= (p.Arg2992=) c.6571C= (p.Arg2191=) | |
2 | g.237334878G>T | CA351189631 | COL6A3 | c.1610+1257C>A c.8359C>A (p.Arg2787Ser) c.1104C>A c.8977C>A (p.Arg2993Ser) c.7153C>A (p.Arg2385Ser) c.7156C>A (p.Arg2386Ser) n.5419C>A c.8377C>A (p.Arg2793Ser) c.7756C>A (p.Arg2586Ser) c.8476C>A (p.Arg2826Ser) c.8974C>A (p.Arg2992Ser) c.6571C>A (p.Arg2191Ser) | dbSNP |
2 | g.237334878_237334879insCTCTGATCTATCTTTCAGTTAAGATGTCCCGTGAAGTCCAGGT | CA2830535398 | COL6A3 | c.1610+1256_1610+1257insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG c.8358_8359insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2787ThrfsTer12) c.1103_1104insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG c.8976_8977insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2993ThrfsTer12) c.7152_7153insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2385ThrfsTer12) c.7155_7156insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2386ThrfsTer12) n.5418_5419insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG c.8376_8377insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2793ThrfsTer12) c.7755_7756insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2586ThrfsTer12) c.8475_8476insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2826ThrfsTer12) c.8973_8974insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2992ThrfsTer12) c.6570_6571insACCTGGACTTCACGGGACATCTTAACTGAAAGATAGATCAGAG (p.Arg2191ThrfsTer12) | |
2 | g.237334879G>A | CA67829651 | COL6A3 | c.1610+1256C>T c.8358C>T (p.Ser2786=) c.1103C>T c.8976C>T (p.Ser2992=) c.7152C>T (p.Ser2384=) c.7155C>T (p.Ser2385=) n.5418C>T c.8376C>T (p.Ser2792=) c.7755C>T (p.Ser2585=) c.8475C>T (p.Ser2825=) c.8973C>T (p.Ser2991=) c.6570C>T (p.Ser2190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334879G>C | CA431699200 | COL6A3 | c.1610+1256C>G c.8358C>G (p.Ser2786=) c.1103C>G c.8976C>G (p.Ser2992=) c.7152C>G (p.Ser2384=) c.7155C>G (p.Ser2385=) n.5418C>G c.8376C>G (p.Ser2792=) c.7755C>G (p.Ser2585=) c.8475C>G (p.Ser2825=) c.8973C>G (p.Ser2991=) c.6570C>G (p.Ser2190=) | |
2 | g.237334879G= | CA1337606498 | COL6A3 | c.1610+1256C= c.8358C= (p.Ser2786=) c.1103C= c.8976C= (p.Ser2992=) c.7152C= (p.Ser2384=) c.7155C= (p.Ser2385=) n.5418C= c.8376C= (p.Ser2792=) c.7755C= (p.Ser2585=) c.8475C= (p.Ser2825=) c.8973C= (p.Ser2991=) c.6570C= (p.Ser2190=) | |
2 | g.237334879G>T | CA431699201 | COL6A3 | c.1610+1256C>A c.8358C>A (p.Ser2786=) c.1103C>A c.8976C>A (p.Ser2992=) c.7152C>A (p.Ser2384=) c.7155C>A (p.Ser2385=) n.5418C>A c.8376C>A (p.Ser2792=) c.7755C>A (p.Ser2585=) c.8475C>A (p.Ser2825=) c.8973C>A (p.Ser2991=) c.6570C>A (p.Ser2190=) | |
2 | g.237334880G>A | CA351189638 | COL6A3 | c.1610+1255C>T c.8357C>T (p.Ser2786Phe) c.1102C>T c.8975C>T (p.Ser2992Phe) c.7151C>T (p.Ser2384Phe) c.7154C>T (p.Ser2385Phe) n.5417C>T c.8375C>T (p.Ser2792Phe) c.7754C>T (p.Ser2585Phe) c.8474C>T (p.Ser2825Phe) c.8972C>T (p.Ser2991Phe) c.6569C>T (p.Ser2190Phe) | dbSNP gnomAD v4 |
2 | g.237334880G>C | CA351189633 | COL6A3 | c.1610+1255C>G c.8357C>G (p.Ser2786Cys) c.1102C>G c.8975C>G (p.Ser2992Cys) c.7151C>G (p.Ser2384Cys) c.7154C>G (p.Ser2385Cys) n.5417C>G c.8375C>G (p.Ser2792Cys) c.7754C>G (p.Ser2585Cys) c.8474C>G (p.Ser2825Cys) c.8972C>G (p.Ser2991Cys) c.6569C>G (p.Ser2190Cys) | |
2 | g.237334880G= | CA1337606499 | COL6A3 | c.1610+1255C= c.8357C= (p.Ser2786=) c.1102C= c.8975C= (p.Ser2992=) c.7151C= (p.Ser2384=) c.7154C= (p.Ser2385=) n.5417C= c.8375C= (p.Ser2792=) c.7754C= (p.Ser2585=) c.8474C= (p.Ser2825=) c.8972C= (p.Ser2991=) c.6569C= (p.Ser2190=) | |
2 | g.237334880G>T | CA351189635 | COL6A3 | c.1610+1255C>A c.8357C>A (p.Ser2786Tyr) c.1102C>A c.8975C>A (p.Ser2992Tyr) c.7151C>A (p.Ser2384Tyr) c.7154C>A (p.Ser2385Tyr) n.5417C>A c.8375C>A (p.Ser2792Tyr) c.7754C>A (p.Ser2585Tyr) c.8474C>A (p.Ser2825Tyr) c.8972C>A (p.Ser2991Tyr) c.6569C>A (p.Ser2190Tyr) | |
2 | g.237334881A= | CA1337606500 | COL6A3 | c.1610+1254T= c.8356T= (p.Ser2786=) c.1101T= c.8974T= (p.Ser2992=) c.7150T= (p.Ser2384=) c.7153T= (p.Ser2385=) n.5416T= c.8374T= (p.Ser2792=) c.7753T= (p.Ser2585=) c.8473T= (p.Ser2825=) c.8971T= (p.Ser2991=) c.6568T= (p.Ser2190=) | |
2 | g.237334881A>C | CA351189641 | COL6A3 | c.1610+1254T>G c.8356T>G (p.Ser2786Ala) c.1101T>G c.8974T>G (p.Ser2992Ala) c.7150T>G (p.Ser2384Ala) c.7153T>G (p.Ser2385Ala) n.5416T>G c.8374T>G (p.Ser2792Ala) c.7753T>G (p.Ser2585Ala) c.8473T>G (p.Ser2825Ala) c.8971T>G (p.Ser2991Ala) c.6568T>G (p.Ser2190Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334881A>G | CA351189643 | COL6A3 | c.1610+1254T>C c.8356T>C (p.Ser2786Pro) c.1101T>C c.8974T>C (p.Ser2992Pro) c.7150T>C (p.Ser2384Pro) c.7153T>C (p.Ser2385Pro) n.5416T>C c.8374T>C (p.Ser2792Pro) c.7753T>C (p.Ser2585Pro) c.8473T>C (p.Ser2825Pro) c.8971T>C (p.Ser2991Pro) c.6568T>C (p.Ser2190Pro) | |
2 | g.237334881A>T | CA10604703 | COL6A3 | c.1610+1254T>A c.8356T>A (p.Ser2786Thr) c.1101T>A c.8974T>A (p.Ser2992Thr) c.7150T>A (p.Ser2384Thr) c.7153T>A (p.Ser2385Thr) n.5416T>A c.8374T>A (p.Ser2792Thr) c.7753T>A (p.Ser2585Thr) c.8473T>A (p.Ser2825Thr) c.8971T>A (p.Ser2991Thr) c.6568T>A (p.Ser2190Thr) | ClinVar dbSNP |
2 | g.237334882C>A | CA351189648 | COL6A3 | c.1610+1253G>T c.8355G>T (p.Met2785Ile) c.1100G>T c.8973G>T (p.Met2991Ile) c.7149G>T (p.Met2383Ile) c.7152G>T (p.Met2384Ile) n.5415G>T c.8373G>T (p.Met2791Ile) c.7752G>T (p.Met2584Ile) c.8472G>T (p.Met2824Ile) c.8970G>T (p.Met2990Ile) c.6567G>T (p.Met2189Ile) | |
2 | g.237334882C>G | CA351189655 | COL6A3 | c.1610+1253G>C c.8355G>C (p.Met2785Ile) c.1100G>C c.8973G>C (p.Met2991Ile) c.7149G>C (p.Met2383Ile) c.7152G>C (p.Met2384Ile) n.5415G>C c.8373G>C (p.Met2791Ile) c.7752G>C (p.Met2584Ile) c.8472G>C (p.Met2824Ile) c.8970G>C (p.Met2990Ile) c.6567G>C (p.Met2189Ile) | |
2 | g.237334882C>T | CA351189657 | COL6A3 | c.1610+1253G>A c.8355G>A (p.Met2785Ile) c.1100G>A c.8973G>A (p.Met2991Ile) c.7149G>A (p.Met2383Ile) c.7152G>A (p.Met2384Ile) n.5415G>A c.8373G>A (p.Met2791Ile) c.7752G>A (p.Met2584Ile) c.8472G>A (p.Met2824Ile) c.8970G>A (p.Met2990Ile) c.6567G>A (p.Met2189Ile) | gnomAD v4 |
2 | g.237334883A= | CA1337606501 | COL6A3 | c.1610+1252T= c.8354T= (p.Met2785=) c.1099T= c.8972T= (p.Met2991=) c.7148T= (p.Met2383=) c.7151T= (p.Met2384=) n.5414T= c.8372T= (p.Met2791=) c.7751T= (p.Met2584=) c.8471T= (p.Met2824=) c.8969T= (p.Met2990=) c.6566T= (p.Met2189=) | |
2 | g.237334883A>C | CA351189659 | COL6A3 | c.1610+1252T>G c.8354T>G (p.Met2785Arg) c.1099T>G c.8972T>G (p.Met2991Arg) c.7148T>G (p.Met2383Arg) c.7151T>G (p.Met2384Arg) n.5414T>G c.8372T>G (p.Met2791Arg) c.7751T>G (p.Met2584Arg) c.8471T>G (p.Met2824Arg) c.8969T>G (p.Met2990Arg) c.6566T>G (p.Met2189Arg) | |
2 | g.237334883A>G | CA2187392 | COL6A3 | c.1610+1252T>C c.8354T>C (p.Met2785Thr) c.1099T>C c.8972T>C (p.Met2991Thr) c.7148T>C (p.Met2383Thr) c.7151T>C (p.Met2384Thr) n.5414T>C c.8372T>C (p.Met2791Thr) c.7751T>C (p.Met2584Thr) c.8471T>C (p.Met2824Thr) c.8969T>C (p.Met2990Thr) c.6566T>C (p.Met2189Thr) | dbSNP ExAC gnomAD v2 |
2 | g.237334883A>T | CA351189663 | COL6A3 | c.1610+1252T>A c.8354T>A (p.Met2785Lys) c.1099T>A c.8972T>A (p.Met2991Lys) c.7148T>A (p.Met2383Lys) c.7151T>A (p.Met2384Lys) n.5414T>A c.8372T>A (p.Met2791Lys) c.7751T>A (p.Met2584Lys) c.8471T>A (p.Met2824Lys) c.8969T>A (p.Met2990Lys) c.6566T>A (p.Met2189Lys) | ClinVar gnomAD v4 |
2 | g.237334884T>A | CA67829661 | COL6A3 | c.1610+1251A>T c.8353A>T (p.Met2785Leu) c.1098A>T c.8971A>T (p.Met2991Leu) c.7147A>T (p.Met2383Leu) c.7150A>T (p.Met2384Leu) n.5413A>T c.8371A>T (p.Met2791Leu) c.7750A>T (p.Met2584Leu) c.8470A>T (p.Met2824Leu) c.8968A>T (p.Met2990Leu) c.6565A>T (p.Met2189Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334884T>C | CA351189668 | COL6A3 | c.1610+1251A>G c.8353A>G (p.Met2785Val) c.1098A>G c.8971A>G (p.Met2991Val) c.7147A>G (p.Met2383Val) c.7150A>G (p.Met2384Val) n.5413A>G c.8371A>G (p.Met2791Val) c.7750A>G (p.Met2584Val) c.8470A>G (p.Met2824Val) c.8968A>G (p.Met2990Val) c.6565A>G (p.Met2189Val) | dbSNP gnomAD v4 |
2 | g.237334884T>G | CA351189671 | COL6A3 | c.1610+1251A>C c.8353A>C (p.Met2785Leu) c.1098A>C c.8971A>C (p.Met2991Leu) c.7147A>C (p.Met2383Leu) c.7150A>C (p.Met2384Leu) n.5413A>C c.8371A>C (p.Met2791Leu) c.7750A>C (p.Met2584Leu) c.8470A>C (p.Met2824Leu) c.8968A>C (p.Met2990Leu) c.6565A>C (p.Met2189Leu) | |
2 | g.237334884T= | CA1337606502 | COL6A3 | c.1610+1251A= c.8353A= (p.Met2785=) c.1098A= c.8971A= (p.Met2991=) c.7147A= (p.Met2383=) c.7150A= (p.Met2384=) n.5413A= c.8371A= (p.Met2791=) c.7750A= (p.Met2584=) c.8470A= (p.Met2824=) c.8968A= (p.Met2990=) c.6565A= (p.Met2189=) | |
2 | g.237334885C>A | CA351189680 | COL6A3 | c.1610+1250G>T c.8352G>T (p.Lys2784Asn) c.1097G>T c.8970G>T (p.Lys2990Asn) c.7146G>T (p.Lys2382Asn) c.7149G>T (p.Lys2383Asn) n.5412G>T c.8370G>T (p.Lys2790Asn) c.7749G>T (p.Lys2583Asn) c.8469G>T (p.Lys2823Asn) c.8967G>T (p.Lys2989Asn) c.6564G>T (p.Lys2188Asn) | |
2 | g.237334885C= | CA1337606503 | COL6A3 | c.1610+1250G= c.8352G= (p.Lys2784=) c.1097G= c.8970G= (p.Lys2990=) c.7146G= (p.Lys2382=) c.7149G= (p.Lys2383=) n.5412G= c.8370G= (p.Lys2790=) c.7749G= (p.Lys2583=) c.8469G= (p.Lys2823=) c.8967G= (p.Lys2989=) c.6564G= (p.Lys2188=) | |
2 | g.237334885C>G | CA351189677 | COL6A3 | c.1610+1250G>C c.8352G>C (p.Lys2784Asn) c.1097G>C c.8970G>C (p.Lys2990Asn) c.7146G>C (p.Lys2382Asn) c.7149G>C (p.Lys2383Asn) n.5412G>C c.8370G>C (p.Lys2790Asn) c.7749G>C (p.Lys2583Asn) c.8469G>C (p.Lys2823Asn) c.8967G>C (p.Lys2989Asn) c.6564G>C (p.Lys2188Asn) | |
2 | g.237334885C>T | CA245572 | COL6A3 | c.1610+1250G>A c.8352G>A (p.Lys2784=) c.1097G>A c.8970G>A (p.Lys2990=) c.7146G>A (p.Lys2382=) c.7149G>A (p.Lys2383=) n.5412G>A c.8370G>A (p.Lys2790=) c.7749G>A (p.Lys2583=) c.8469G>A (p.Lys2823=) c.8967G>A (p.Lys2989=) c.6564G>A (p.Lys2188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237334886T>A | CA351189684 | COL6A3 | c.1610+1249A>T c.8351A>T (p.Lys2784Met) c.1096A>T c.8969A>T (p.Lys2990Met) c.7145A>T (p.Lys2382Met) c.7148A>T (p.Lys2383Met) n.5411A>T c.8369A>T (p.Lys2790Met) c.7748A>T (p.Lys2583Met) c.8468A>T (p.Lys2823Met) c.8966A>T (p.Lys2989Met) c.6563A>T (p.Lys2188Met) | |
2 | g.237334886T>C | CA351189687 | COL6A3 | c.1610+1249A>G c.8351A>G (p.Lys2784Arg) c.1096A>G c.8969A>G (p.Lys2990Arg) c.7145A>G (p.Lys2382Arg) c.7148A>G (p.Lys2383Arg) n.5411A>G c.8369A>G (p.Lys2790Arg) c.7748A>G (p.Lys2583Arg) c.8468A>G (p.Lys2823Arg) c.8966A>G (p.Lys2989Arg) c.6563A>G (p.Lys2188Arg) | |
2 | g.237334886T>G | CA351189689 | COL6A3 | c.1610+1249A>C c.8351A>C (p.Lys2784Thr) c.1096A>C c.8969A>C (p.Lys2990Thr) c.7145A>C (p.Lys2382Thr) c.7148A>C (p.Lys2383Thr) n.5411A>C c.8369A>C (p.Lys2790Thr) c.7748A>C (p.Lys2583Thr) c.8468A>C (p.Lys2823Thr) c.8966A>C (p.Lys2989Thr) c.6563A>C (p.Lys2188Thr) | gnomAD v4 |
2 | g.237334887T>A | CA351189691 | COL6A3 | c.1610+1248A>T c.8350A>T (p.Lys2784Ter) c.1095A>T c.8968A>T (p.Lys2990Ter) c.7144A>T (p.Lys2382Ter) c.7147A>T (p.Lys2383Ter) n.5410A>T c.8368A>T (p.Lys2790Ter) c.7747A>T (p.Lys2583Ter) c.8467A>T (p.Lys2823Ter) c.8965A>T (p.Lys2989Ter) c.6562A>T (p.Lys2188Ter) | |
2 | g.237334887T>C | CA351189694 | COL6A3 | c.1610+1248A>G c.8350A>G (p.Lys2784Glu) c.1095A>G c.8968A>G (p.Lys2990Glu) c.7144A>G (p.Lys2382Glu) c.7147A>G (p.Lys2383Glu) n.5410A>G c.8368A>G (p.Lys2790Glu) c.7747A>G (p.Lys2583Glu) c.8467A>G (p.Lys2823Glu) c.8965A>G (p.Lys2989Glu) c.6562A>G (p.Lys2188Glu) | |
2 | g.237334887T>G | CA351189697 | COL6A3 | c.1610+1248A>C c.8350A>C (p.Lys2784Gln) c.1095A>C c.8968A>C (p.Lys2990Gln) c.7144A>C (p.Lys2382Gln) c.7147A>C (p.Lys2383Gln) n.5410A>C c.8368A>C (p.Lys2790Gln) c.7747A>C (p.Lys2583Gln) c.8467A>C (p.Lys2823Gln) c.8965A>C (p.Lys2989Gln) c.6562A>C (p.Lys2188Gln) | |
2 | g.237334888A= | CA1337606504 | COL6A3 | c.1610+1247T= c.8349T= (p.Val2783=) c.1094T= c.8967T= (p.Val2989=) c.7143T= (p.Val2381=) c.7146T= (p.Val2382=) n.5409T= c.8367T= (p.Val2789=) c.7746T= (p.Val2582=) c.8466T= (p.Val2822=) c.8964T= (p.Val2988=) c.6561T= (p.Val2187=) | |
2 | g.237334888A>C | CA431699202 | COL6A3 | c.1610+1247T>G c.8349T>G (p.Val2783=) c.1094T>G c.8967T>G (p.Val2989=) c.7143T>G (p.Val2381=) c.7146T>G (p.Val2382=) n.5409T>G c.8367T>G (p.Val2789=) c.7746T>G (p.Val2582=) c.8466T>G (p.Val2822=) c.8964T>G (p.Val2988=) c.6561T>G (p.Val2187=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334888A>G | CA431699203 | COL6A3 | c.1610+1247T>C c.8349T>C (p.Val2783=) c.1094T>C c.8967T>C (p.Val2989=) c.7143T>C (p.Val2381=) c.7146T>C (p.Val2382=) n.5409T>C c.8367T>C (p.Val2789=) c.7746T>C (p.Val2582=) c.8466T>C (p.Val2822=) c.8964T>C (p.Val2988=) c.6561T>C (p.Val2187=) | gnomAD v4 |
2 | g.237334888A>T | CA431699204 | COL6A3 | c.1610+1247T>A c.8349T>A (p.Val2783=) c.1094T>A c.8967T>A (p.Val2989=) c.7143T>A (p.Val2381=) c.7146T>A (p.Val2382=) n.5409T>A c.8367T>A (p.Val2789=) c.7746T>A (p.Val2582=) c.8466T>A (p.Val2822=) c.8964T>A (p.Val2988=) c.6561T>A (p.Val2187=) | |
2 | g.237334889A>C | CA351189700 | COL6A3 | c.1610+1246T>G c.8348T>G (p.Val2783Gly) c.1093T>G c.8966T>G (p.Val2989Gly) c.7142T>G (p.Val2381Gly) c.7145T>G (p.Val2382Gly) n.5408T>G c.8366T>G (p.Val2789Gly) c.7745T>G (p.Val2582Gly) c.8465T>G (p.Val2822Gly) c.8963T>G (p.Val2988Gly) c.6560T>G (p.Val2187Gly) | |
2 | g.237334889A>G | CA351189703 | COL6A3 | c.1610+1246T>C c.8348T>C (p.Val2783Ala) c.1093T>C c.8966T>C (p.Val2989Ala) c.7142T>C (p.Val2381Ala) c.7145T>C (p.Val2382Ala) n.5408T>C c.8366T>C (p.Val2789Ala) c.7745T>C (p.Val2582Ala) c.8465T>C (p.Val2822Ala) c.8963T>C (p.Val2988Ala) c.6560T>C (p.Val2187Ala) | gnomAD v4 |
2 | g.237334889A>T | CA351189710 | COL6A3 | c.1610+1246T>A c.8348T>A (p.Val2783Asp) c.1093T>A c.8966T>A (p.Val2989Asp) c.7142T>A (p.Val2381Asp) c.7145T>A (p.Val2382Asp) n.5408T>A c.8366T>A (p.Val2789Asp) c.7745T>A (p.Val2582Asp) c.8465T>A (p.Val2822Asp) c.8963T>A (p.Val2988Asp) c.6560T>A (p.Val2187Asp) | |
2 | g.237334890C>A | CA351189713 | COL6A3 | c.1610+1245G>T c.8348-1G>T (n.8348-1G>T) c.1093-1G>T c.8966-1G>T (n.8966-1G>T) c.7142-1G>T (n.7142-1G>T) c.7145-1G>T (n.7145-1G>T) n.5408-1G>T c.8366-1G>T (n.8366-1G>T) c.7745-1G>T (n.7745-1G>T) c.8465-1G>T (n.8465-1G>T) c.8963-1G>T (n.8963-1G>T) c.6560-1G>T (n.6560-1G>T) | |
2 | g.237334890C= | CA1337606505 | COL6A3 | c.1610+1245G= c.8348-1G= (n.8348-1G=) c.1093-1G= c.8966-1G= (n.8966-1G=) c.7142-1G= (n.7142-1G=) c.7145-1G= (n.7145-1G=) n.5408-1G= c.8366-1G= (n.8366-1G=) c.7745-1G= (n.7745-1G=) c.8465-1G= (n.8465-1G=) c.8963-1G= (n.8963-1G=) c.6560-1G= (n.6560-1G=) | |
2 | g.237334890C>G | CA200148 | COL6A3 | c.1610+1245G>C c.8348-1G>C (n.8348-1G>C) c.1093-1G>C c.8966-1G>C (n.8966-1G>C) c.7142-1G>C (n.7142-1G>C) c.7145-1G>C (n.7145-1G>C) n.5408-1G>C c.8366-1G>C (n.8366-1G>C) c.7745-1G>C (n.7745-1G>C) c.8465-1G>C (n.8465-1G>C) c.8963-1G>C (n.8963-1G>C) c.6560-1G>C (n.6560-1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334890C>T | CA351189729 | COL6A3 | c.1610+1245G>A c.8348-1G>A (n.8348-1G>A) c.1093-1G>A c.8966-1G>A (n.8966-1G>A) c.7142-1G>A (n.7142-1G>A) c.7145-1G>A (n.7145-1G>A) n.5408-1G>A c.8366-1G>A (n.8366-1G>A) c.7745-1G>A (n.7745-1G>A) c.8465-1G>A (n.8465-1G>A) c.8963-1G>A (n.8963-1G>A) c.6560-1G>A (n.6560-1G>A) | gnomAD v4 COSMIC |
2 | g.237334891T>A | CA351189739 | COL6A3 | c.1610+1244A>T c.8348-2A>T (n.8348-2A>T) c.1093-2A>T c.8966-2A>T (n.8966-2A>T) c.7142-2A>T (n.7142-2A>T) c.7145-2A>T (n.7145-2A>T) n.5408-2A>T c.8366-2A>T (n.8366-2A>T) c.7745-2A>T (n.7745-2A>T) c.8465-2A>T (n.8465-2A>T) c.8963-2A>T (n.8963-2A>T) c.6560-2A>T (n.6560-2A>T) | |
2 | g.237334891T>C | CA67829670 | COL6A3 | c.1610+1244A>G c.8348-2A>G (n.8348-2A>G) c.1093-2A>G c.8966-2A>G (n.8966-2A>G) c.7142-2A>G (n.7142-2A>G) c.7145-2A>G (n.7145-2A>G) n.5408-2A>G c.8366-2A>G (n.8366-2A>G) c.7745-2A>G (n.7745-2A>G) c.8465-2A>G (n.8465-2A>G) c.8963-2A>G (n.8963-2A>G) c.6560-2A>G (n.6560-2A>G) | dbSNP gnomAD v4 |
2 | g.237334891T>G | CA351189735 | COL6A3 | c.1610+1244A>C c.8348-2A>C (n.8348-2A>C) c.1093-2A>C c.8966-2A>C (n.8966-2A>C) c.7142-2A>C (n.7142-2A>C) c.7145-2A>C (n.7145-2A>C) n.5408-2A>C c.8366-2A>C (n.8366-2A>C) c.7745-2A>C (n.7745-2A>C) c.8465-2A>C (n.8465-2A>C) c.8963-2A>C (n.8963-2A>C) c.6560-2A>C (n.6560-2A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334891T= | CA1337606506 | COL6A3 | c.1610+1244A= c.8348-2A= (n.8348-2A=) c.1093-2A= c.8966-2A= (n.8966-2A=) c.7142-2A= (n.7142-2A=) c.7145-2A= (n.7145-2A=) n.5408-2A= c.8366-2A= (n.8366-2A=) c.7745-2A= (n.7745-2A=) c.8465-2A= (n.8465-2A=) c.8963-2A= (n.8963-2A=) c.6560-2A= (n.6560-2A=) |