Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237334796T>ACA351188871COL6A3c.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)
2g.237334796T>CCA2187368COL6A3c.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
2g.237334796T>GCA351188873COL6A3c.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)
2g.237334796T=CA1337606462COL6A3c.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=)
2g.237334797A>CCA351188880COL6A3c.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)
2g.237334797A>GCA351188882COL6A3c.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
2g.237334797A>TCA351188881COL6A3c.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)
2g.237334798A>CCA351188883COL6A3c.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)
2g.237334798A>GCA431699151COL6A3c.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=)
2g.237334798A>TCA351188884COL6A3c.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)
2g.237334799A>CCA351188887COL6A3c.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)
2g.237334799A>GCA351188888COL6A3c.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)
2g.237334799A>TCA351188890COL6A3c.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)
2g.237334800A>CCA351188892COL6A3c.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)
2g.237334800A>GCA351188893COL6A3c.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)
2g.237334800A>TCA351188899COL6A3c.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
2g.237334801A>CCA351188903COL6A3c.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)
2g.237334801A>GCA431699152COL6A3c.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
2g.237334801A>TCA351188906COL6A3c.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
2g.237334802T>ACA351188910COL6A3c.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)
2g.237334802T>CCA351188916COL6A3c.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)
2g.237334802T>GCA2187369COL6A3c.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
2g.237334802T=CA1337606463COL6A3c.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=)
2g.237334803A>CCA351188921COL6A3c.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
2g.237334803A>GCA351188929COL6A3c.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)
2g.237334803A>TCA351188924COL6A3c.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)
2g.237334804dupCA2663791986COL6A3c.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
2g.237334804A=CA1337606464COL6A3c.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=)
2g.237334804A>CCA431699156COL6A3c.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=)
2g.237334804A>GCA431699154COL6A3c.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=)
2g.237334804A>TCA431699155COL6A3c.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
2g.237334805G>ACA351188933COL6A3c.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)
2g.237334805G>CCA351188945COL6A3c.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)
2g.237334805G>TCA351188947COL6A3c.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)
2g.237334806G>ACA351188957COL6A3c.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
2g.237334806G>CCA351188961COL6A3c.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)
2g.237334806G=CA1337606465COL6A3c.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=)
2g.237334806G>TCA2187370COL6A3c.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
2g.237334807A=CA1337606466COL6A3c.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=)
2g.237334807A>CCA431699157COL6A3c.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=)
2g.237334807A>GCA431699158COL6A3c.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
2g.237334807A>TCA431699159COL6A3c.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=)
2g.237334808C>ACA351188966COL6A3c.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)
2g.237334808C=CA1337606467COL6A3c.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=)
2g.237334808C>GCA351188971COL6A3c.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
2g.237334808C>TCA2187371COL6A3c.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
2g.237334809dupCA2695197703COL6A3c.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
2g.237334809C>ACA351188991COL6A3c.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)
2g.237334809C=CA1337606468COL6A3c.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=)
2g.237334809C>GCA2187372COL6A3c.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
2g.237334809C>TCA351188988COL6A3c.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
2g.237334810G>ACA2187373COL6A3c.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
2g.237334810G>CCA431699160COL6A3c.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
2g.237334810G=CA1337606469COL6A3c.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=)
2g.237334810G>TCA431699161COL6A3c.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=)
2g.237334815dupCA540749775COL6A3c.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
2g.237334814_237334815dupCA2754786632COL6A3c.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)
2g.237334815delCA431699162COL6A3c.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
2g.237334811G>ACA351188996COL6A3c.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
2g.237334811G>CCA351188997COL6A3c.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)
2g.237334811G>TCA351189000COL6A3c.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)
2g.237334812G>ACA2187374COL6A3c.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
2g.237334812G>CCA351189004COL6A3c.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)
2g.237334812G=CA1337606470COL6A3c.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=)
2g.237334812G>TCA351189006COL6A3c.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)
2g.237334813G>ACA431699165COL6A3c.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
2g.237334813G>CCA431699163COL6A3c.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=)
2g.237334813G=CA1337606471COL6A3c.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=)
2g.237334813G>TCA431699164COL6A3c.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=)
2g.237334814G>ACA2187375COL6A3c.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
2g.237334814G>CCA351189007COL6A3c.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)
2g.237334814G=CA1337606472COL6A3c.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=)
2g.237334814G>TCA351189009COL6A3c.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
2g.237334815G>ACA351189011COL6A3c.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)
2g.237334815G>CCA351189012COL6A3c.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
2g.237334815G>TCA351189013COL6A3c.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)
2g.237334816C>ACA351189015COL6A3c.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)
2g.237334816C=CA1337606473COL6A3c.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=)
2g.237334816C>GCA2187376COL6A3c.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
2g.237334816C>TCA431699166COL6A3c.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=)
2g.237334817T>ACA351189019COL6A3c.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)
2g.237334817T>CCA351189022COL6A3c.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)
2g.237334817T>GCA351189024COL6A3c.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)
2g.237334818C>ACA351189036COL6A3c.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)
2g.237334818C>GCA351189039COL6A3c.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
2g.237334818C>TCA351189042COL6A3c.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
2g.237334819A>CCA431699167COL6A3c.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=)
2g.237334819A>GCA431699168COL6A3c.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=)
2g.237334819A>TCA431699169COL6A3c.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=)
2g.237334820G>ACA351189046COL6A3c.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)
2g.237334820G>CCA351189050COL6A3c.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
2g.237334820G=CA1337606474COL6A3c.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=)
2g.237334820G>TCA351189052COL6A3c.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)
2g.237334821C>ACA351189056COL6A3c.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
2g.237334821C=CA1337606475COL6A3c.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=)
2g.237334821C>GCA148086COL6A3c.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
2g.237334821C>TCA351189060COL6A3c.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
2g.237334822C>ACA351189071COL6A3c.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)
2g.237334822C>GCA351189074COL6A3c.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)
2g.237334822C>TCA431699170COL6A3c.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
2g.237334823C>ACA2187377COL6A3c.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
2g.237334823C=CA1337606476COL6A3c.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=)
2g.237334823C>GCA351189082COL6A3c.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)
2g.237334823C>TCA351189079COL6A3c.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)
2g.237334824T>ACA351189089COL6A3c.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)
2g.237334824T>CCA2187378COL6A3c.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
2g.237334824T>GCA2187379COL6A3c.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
2g.237334824T=CA1337606477COL6A3c.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=)
2g.237334825C>ACA351189114COL6A3c.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)
2g.237334825C>GCA351189121COL6A3c.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
2g.237334825C>TCA431699171COL6A3c.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=)
2g.237334826T>ACA351189124COL6A3c.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
2g.237334826T>CCA351189125COL6A3c.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)
2g.237334826T>GCA351189126COL6A3c.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)
2g.237334827C>ACA351189127COL6A3c.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)
2g.237334827C>GCA351189130COL6A3c.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
2g.237334827C>TCA351189139COL6A3c.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
2g.237334828C>ACA351189167COL6A3c.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)
2g.237334828C>GCA351189145COL6A3c.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)
2g.237334828C>TCA351189164COL6A3c.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)
2g.237334829C>ACA351189173COL6A3c.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)
2g.237334829C=CA1337606478COL6A3c.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=)
2g.237334829C>GCA351189174COL6A3c.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)
2g.237334829C>TCA2187380COL6A3c.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
2g.237334830A>CCA351189177COL6A3c.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)
2g.237334830A>GCA351189178COL6A3c.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)
2g.237334830A>TCA351189183COL6A3c.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)
2g.237334831G>ACA431699172COL6A3c.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
2g.237334831G>CCA351189185COL6A3c.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)
2g.237334831G=CA1337606479COL6A3c.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=)
2g.237334831G>TCA351189191COL6A3c.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
2g.237334832T>ACA351189200COL6A3c.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)
2g.237334832T>CCA351189205COL6A3c.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)
2g.237334832T>GCA351189206COL6A3c.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)
2g.237334833G>ACA351189220COL6A3c.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)
2g.237334833G>CCA351189224COL6A3c.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)
2g.237334833G>TCA351189217COL6A3c.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)
2g.237334834G>ACA431699173COL6A3c.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=)
2g.237334834G>CCA431699175COL6A3c.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=)
2g.237334834G>TCA431699174COL6A3c.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=)
2g.237334835A>CCA351189229COL6A3c.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)
2g.237334835A>GCA351189232COL6A3c.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
2g.237334835A>TCA351189234COL6A3c.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)
2g.237334836G>ACA351189236COL6A3c.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)
2g.237334836G>CCA351189237COL6A3c.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)
2g.237334836G>TCA351189241COL6A3c.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)
2g.237334837T>ACA351189250COL6A3c.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)
2g.237334837T>CCA431699176COL6A3c.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=)
2g.237334837T>GCA351189247COL6A3c.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)
2g.237334838T>ACA351189254COL6A3c.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)
2g.237334838T>CCA2187381COL6A3c.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
2g.237334838T>GCA351189257COL6A3c.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)
2g.237334838T=CA1337606480COL6A3c.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=)
2g.237334839T>ACA351189261COL6A3c.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)
2g.237334839T>CCA351189263COL6A3c.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)
2g.237334839T>GCA351189267COL6A3c.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)
2g.237334840G>ACA431699177COL6A3c.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
2g.237334840G>CCA431699178COL6A3c.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=)
2g.237334840G>TCA431699179COL6A3c.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=)
2g.237334841G>ACA351189268COL6A3c.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
2g.237334841G>CCA351189272COL6A3c.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)
2g.237334841G>TCA351189269COL6A3c.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)
2g.237334842C>ACA351189275COL6A3c.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)
2g.237334842C=CA1337606481COL6A3c.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=)
2g.237334842C>GCA351189280COL6A3c.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
2g.237334842C>TCA2187382COL6A3c.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
2g.237334843G>ACA245569COL6A3c.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
2g.237334843G>CCA351189288COL6A3c.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)
2g.237334843G=CA1337606482COL6A3c.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=)
2g.237334843G>TCA351189292COL6A3c.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
2g.237334844C>ACA351189296COL6A3c.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)
2g.237334844C=CA1337606483COL6A3c.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=)
2g.237334844C>GCA351189298COL6A3c.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)
2g.237334844C>TCA351189300COL6A3c.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
2g.237334845T>ACA351189304COL6A3c.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)
2g.237334845T>CCA351189309COL6A3c.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
2g.237334845T>GCA351189314COL6A3c.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)
2g.237334845T=CA1337606484COL6A3c.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=)
2g.237334846G>ACA431699180COL6A3c.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=)
2g.237334846G>CCA2187383COL6A3c.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
2g.237334846G=CA1337606485COL6A3c.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=)
2g.237334846G>TCA351189327COL6A3c.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)
2g.237334847T>ACA351189333COL6A3c.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)
2g.237334847T>CCA351189348COL6A3c.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)
2g.237334847T>GCA351189344COL6A3c.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)
2g.237334848T>ACA351189353COL6A3c.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)
2g.237334848T>CCA351189359COL6A3c.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)
2g.237334848T>GCA351189357COL6A3c.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)
2g.237334849C>ACA351189363COL6A3c.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
2g.237334849C=CA1337606486COL6A3c.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=)
2g.237334849C>GCA351189366COL6A3c.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)
2g.237334849C>TCA431699181COL6A3c.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=)
2g.237334850T>ACA351189370COL6A3c.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)
2g.237334850T>CCA2187384COL6A3c.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
2g.237334850T>GCA351189378COL6A3c.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)
2g.237334850T=CA1337606487COL6A3c.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=)
2g.237334851C>ACA351189381COL6A3c.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)
2g.237334851C=CA1337606488COL6A3c.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=)
2g.237334851C>GCA351189384COL6A3c.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)
2g.237334851C>TCA67829599COL6A3c.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
2g.237334852T>ACA431699182COL6A3c.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=)
2g.237334852T>CCA431699183COL6A3c.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=)
2g.237334852T>GCA431699184COL6A3c.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=)
2g.237334853G>ACA351189390COL6A3c.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
2g.237334853G>CCA351189394COL6A3c.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
2g.237334853G>TCA351189398COL6A3c.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)
2g.237334854T>ACA351189402COL6A3c.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)
2g.237334854T>CCA351189409COL6A3c.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)
2g.237334854T>GCA351189407COL6A3c.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)
2g.237334855T>ACA431699185COL6A3c.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=)
2g.237334855T>CCA2187385COL6A3c.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
2g.237334855T>GCA431699186COL6A3c.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=)
2g.237334855T=CA1337606489COL6A3c.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=)
2g.237334856A=CA1337606490COL6A3c.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=)
2g.237334856A>CCA351189419COL6A3c.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)
2g.237334856A>GCA351189434COL6A3c.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
2g.237334856A>TCA351189438COL6A3c.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)
2g.237334857T>ACA351189443COL6A3c.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)
2g.237334857T>CCA351189446COL6A3c.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
2g.237334857T>GCA351189449COL6A3c.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)
2g.237334858C>ACA351189453COL6A3c.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)
2g.237334858C>GCA351189457COL6A3c.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)
2g.237334858C>TCA431699187COL6A3c.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
2g.237334859T>ACA351189467COL6A3c.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)
2g.237334859T>CCA2187386COL6A3c.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
2g.237334859T>GCA351189465COL6A3c.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)
2g.237334859T=CA1337606491COL6A3c.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=)
2g.237334860C>ACA351189476COL6A3c.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)
2g.237334860C>GCA351189480COL6A3c.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)
2g.237334860C>TCA351189482COL6A3c.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)
2g.237334861A>CCA351189486COL6A3c.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
2g.237334861A>GCA431699188COL6A3c.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
2g.237334861A>TCA351189490COL6A3c.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)
2g.237334862A=CA1337606492COL6A3c.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=)
2g.237334862A>CCA351189494COL6A3c.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)
2g.237334862A>GCA351189497COL6A3c.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
2g.237334862A>TCA351189510COL6A3c.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)
2g.237334863A>CCA351189516COL6A3c.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)
2g.237334863A>GCA351189519COL6A3c.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)
2g.237334863A>TCA351189523COL6A3c.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)
2g.237334864C>ACA431699189COL6A3c.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=)
2g.237334864C>GCA431699190COL6A3c.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=)
2g.237334864C>TCA431699191COL6A3c.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=)
2g.237334865A>CCA351189532COL6A3c.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)
2g.237334865A>GCA351189533COL6A3c.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)
2g.237334865A>TCA351189528COL6A3c.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)
2g.237334866C>ACA2187387COL6A3c.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
2g.237334866C=CA1337606493COL6A3c.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=)
2g.237334866C>GCA351189534COL6A3c.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)
2g.237334866C>TCA351189537COL6A3c.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)
2g.237334867C>ACA351189539COL6A3c.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)
2g.237334867C=CA1337606494COL6A3c.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=)
2g.237334867C>GCA2187388COL6A3c.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
2g.237334867C>TCA431699192COL6A3c.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=)
2g.237334868T>ACA351189557COL6A3c.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)
2g.237334868T>CCA351189549COL6A3c.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
2g.237334868T>GCA351189551COL6A3c.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)
2g.237334869G>ACA351189562COL6A3c.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
2g.237334869G>CCA351189564COL6A3c.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)
2g.237334869G=CA1337606495COL6A3c.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=)
2g.237334869G>TCA351189567COL6A3c.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)
2g.237334870G>ACA431699193COL6A3c.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=)
2g.237334870G>CCA431699195COL6A3c.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
2g.237334870G>TCA431699194COL6A3c.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=)
2g.237334871A>CCA351189571COL6A3c.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)
2g.237334871A>GCA351189574COL6A3c.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
2g.237334871A>TCA351189578COL6A3c.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)
2g.237334872C>ACA351189584COL6A3c.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
2g.237334872C>GCA351189587COL6A3c.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)
2g.237334872C>TCA351189581COL6A3c.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)
2g.237334873T>ACA351189595COL6A3c.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)
2g.237334873T>CCA431699196COL6A3c.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=)
2g.237334873T>GCA351189592COL6A3c.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)
2g.237334874T>ACA351189598COL6A3c.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
2g.237334874T>CCA351189602COL6A3c.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)
2g.237334874T>GCA351189607COL6A3c.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)
2g.237334875C>ACA351189612COL6A3c.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)
2g.237334875C>GCA351189617COL6A3c.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)
2g.237334875C>TCA351189619COL6A3c.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)
2g.237334876A>CCA431699197COL6A3c.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=)
2g.237334876A>GCA431699198COL6A3c.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=)
2g.237334876A>TCA431699199COL6A3c.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=)
2g.237334877C>ACA351189620COL6A3c.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)
2g.237334877C=CA1337606496COL6A3c.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=)
2g.237334877C>GCA351189623COL6A3c.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)
2g.237334877C>TCA2187389COL6A3c.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
2g.237334878G>ACA2187390COL6A3c.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
2g.237334878G>CCA2187391COL6A3c.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
2g.237334878G=CA1337606497COL6A3c.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=)
2g.237334878G>TCA351189631COL6A3c.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
2g.237334879G>ACA67829651COL6A3c.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
2g.237334879G>CCA431699200COL6A3c.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=)
2g.237334879G=CA1337606498COL6A3c.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=)
2g.237334879G>TCA431699201COL6A3c.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=)
2g.237334880G>ACA351189638COL6A3c.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
2g.237334880G>CCA351189633COL6A3c.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)
2g.237334880G=CA1337606499COL6A3c.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=)
2g.237334880G>TCA351189635COL6A3c.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)
2g.237334881A=CA1337606500COL6A3c.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=)
2g.237334881A>CCA351189641COL6A3c.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
2g.237334881A>GCA351189643COL6A3c.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)
2g.237334881A>TCA10604703COL6A3c.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
2g.237334882C>ACA351189648COL6A3c.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)
2g.237334882C>GCA351189655COL6A3c.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)
2g.237334882C>TCA351189657COL6A3c.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
2g.237334883A=CA1337606501COL6A3c.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=)
2g.237334883A>CCA351189659COL6A3c.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)
2g.237334883A>GCA2187392COL6A3c.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
2g.237334883A>TCA351189663COL6A3c.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
2g.237334884T>ACA67829661COL6A3c.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
2g.237334884T>CCA351189668COL6A3c.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
2g.237334884T>GCA351189671COL6A3c.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)
2g.237334884T=CA1337606502COL6A3c.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=)
2g.237334885C>ACA351189680COL6A3c.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)
2g.237334885C=CA1337606503COL6A3c.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=)
2g.237334885C>GCA351189677COL6A3c.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)
2g.237334885C>TCA245572COL6A3c.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
2g.237334886T>ACA351189684COL6A3c.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)
2g.237334886T>CCA351189687COL6A3c.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)
2g.237334886T>GCA351189689COL6A3c.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
2g.237334887T>ACA351189691COL6A3c.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)
2g.237334887T>CCA351189694COL6A3c.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)
2g.237334887T>GCA351189697COL6A3c.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)
2g.237334888A=CA1337606504COL6A3c.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=)
2g.237334888A>CCA431699202COL6A3c.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
2g.237334888A>GCA431699203COL6A3c.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
2g.237334888A>TCA431699204COL6A3c.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=)
2g.237334889A>CCA351189700COL6A3c.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)
2g.237334889A>GCA351189703COL6A3c.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
2g.237334889A>TCA351189710COL6A3c.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)
2g.237334890C>ACA351189713COL6A3c.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)
2g.237334890C=CA1337606505COL6A3c.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=)
2g.237334890C>GCA200148COL6A3c.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
2g.237334890C>TCA351189729COL6A3c.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
2g.237334891T>ACA351189739COL6A3c.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)
2g.237334891T>CCA67829670COL6A3c.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
2g.237334891T>GCA351189735COL6A3c.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
2g.237334891T=CA1337606506COL6A3c.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=)
2g.237334892delCA2663791987COL6A3c.1610+1243del
c.8348-3del (n.8348-3del)
c.1093-3del
c.8966-3del (n.8966-3del)
c.7142-3del (n.7142-3del)
c.7145-3del (n.7145-3del)
n.5408-3del
c.8366-3del (n.8366-3del)
c.7745-3del (n.7745-3del)
c.8465-3del (n.8465-3del)
c.8963-3del (n.8963-3del)
c.6560-3del (n.6560-3del)
 gnomAD v4
2g.237334892G>ACA2663791988COL6A3c.1610+1243C>T
c.8348-3C>T (n.8348-3C>T)
c.1093-3C>T
c.8966-3C>T (n.8966-3C>T)
c.7142-3C>T (n.7142-3C>T)
c.7145-3C>T (n.7145-3C>T)
n.5408-3C>T
c.8366-3C>T (n.8366-3C>T)
c.7745-3C>T (n.7745-3C>T)
c.8465-3C>T (n.8465-3C>T)
c.8963-3C>T (n.8963-3C>T)
c.6560-3C>T (n.6560-3C>T)
 ClinVar gnomAD v4
2g.237334892G=CA1337606507COL6A3c.1610+1243C=
c.8348-3C= (n.8348-3C=)
c.1093-3C=
c.8966-3C= (n.8966-3C=)
c.7142-3C= (n.7142-3C=)
c.7145-3C= (n.7145-3C=)
n.5408-3C=
c.8366-3C= (n.8366-3C=)
c.7745-3C= (n.7745-3C=)
c.8465-3C= (n.8465-3C=)
c.8963-3C= (n.8963-3C=)
c.6560-3C= (n.6560-3C=)
2g.237334892G>TCA2187393COL6A3c.1610+1243C>A
c.8348-3C>A (n.8348-3C>A)
c.1093-3C>A
c.8966-3C>A (n.8966-3C>A)
c.7142-3C>A (n.7142-3C>A)
c.7145-3C>A (n.7145-3C>A)
n.5408-3C>A
c.8366-3C>A (n.8366-3C>A)
c.7745-3C>A (n.7745-3C>A)
c.8465-3C>A (n.8465-3C>A)
c.8963-3C>A (n.8963-3C>A)
c.6560-3C>A (n.6560-3C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334895A=CA1337606508COL6A3c.1610+1240T=
c.8348-6T= (n.8348-6T=)
c.1093-6T=
c.8966-6T= (n.8966-6T=)
c.7142-6T= (n.7142-6T=)
c.7145-6T= (n.7145-6T=)
n.5408-6T=
c.8366-6T= (n.8366-6T=)
c.7745-6T= (n.7745-6T=)
c.8465-6T= (n.8465-6T=)
c.8963-6T= (n.8963-6T=)
c.6560-6T= (n.6560-6T=)
2g.237334895A>CCA2663791989COL6A3c.1610+1240T>G
c.8348-6T>G (n.8348-6T>G)
c.1093-6T>G
c.8966-6T>G (n.8966-6T>G)
c.7142-6T>G (n.7142-6T>G)
c.7145-6T>G (n.7145-6T>G)
n.5408-6T>G
c.8366-6T>G (n.8366-6T>G)
c.7745-6T>G (n.7745-6T>G)
c.8465-6T>G (n.8465-6T>G)
c.8963-6T>G (n.8963-6T>G)
c.6560-6T>G (n.6560-6T>G)
 gnomAD v4
2g.237334895A>GCA2187394COL6A3c.1610+1240T>C
c.8348-6T>C (n.8348-6T>C)
c.1093-6T>C
c.8966-6T>C (n.8966-6T>C)
c.7142-6T>C (n.7142-6T>C)
c.7145-6T>C (n.7145-6T>C)
n.5408-6T>C
c.8366-6T>C (n.8366-6T>C)
c.7745-6T>C (n.7745-6T>C)
c.8465-6T>C (n.8465-6T>C)
c.8963-6T>C (n.8963-6T>C)
c.6560-6T>C (n.6560-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334896G>ACA2663791990COL6A3c.1610+1239C>T
c.8348-7C>T (n.8348-7C>T)
c.1093-7C>T
c.8966-7C>T (n.8966-7C>T)
c.7142-7C>T (n.7142-7C>T)
c.7145-7C>T (n.7145-7C>T)
n.5408-7C>T
c.8366-7C>T (n.8366-7C>T)
c.7745-7C>T (n.7745-7C>T)
c.8465-7C>T (n.8465-7C>T)
c.8963-7C>T (n.8963-7C>T)
c.6560-7C>T (n.6560-7C>T)
 gnomAD v4

Number of alleles fetched