Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237336356G>ACA2187451COL6A3c.1389C>T
c.8126C>T (p.Ala2709Val)
c.871C>T
n.1011C>T
c.8744C>T (p.Ala2915Val)
c.6920C>T (p.Ala2307Val)
c.6923C>T (p.Ala2308Val)
n.5186C>T
c.8144C>T (p.Ala2715Val)
c.7523C>T (p.Ala2508Val)
c.8243C>T (p.Ala2748Val)
c.8741C>T (p.Ala2914Val)
c.6338C>T (p.Ala2113Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336356G>CCA351191728COL6A3c.1389C>G
c.8126C>G (p.Ala2709Gly)
c.871C>G
n.1011C>G
c.8744C>G (p.Ala2915Gly)
c.6920C>G (p.Ala2307Gly)
c.6923C>G (p.Ala2308Gly)
n.5186C>G
c.8144C>G (p.Ala2715Gly)
c.7523C>G (p.Ala2508Gly)
c.8243C>G (p.Ala2748Gly)
c.8741C>G (p.Ala2914Gly)
c.6338C>G (p.Ala2113Gly)
2g.237336356G=CA1337607153COL6A3c.1389C=
c.8126C= (p.Ala2709=)
c.871C=
n.1011C=
c.8744C= (p.Ala2915=)
c.6920C= (p.Ala2307=)
c.6923C= (p.Ala2308=)
n.5186C=
c.8144C= (p.Ala2715=)
c.7523C= (p.Ala2508=)
c.8243C= (p.Ala2748=)
c.8741C= (p.Ala2914=)
c.6338C= (p.Ala2113=)
2g.237336356G>TCA351191731COL6A3c.1389C>A
c.8126C>A (p.Ala2709Glu)
c.871C>A
n.1011C>A
c.8744C>A (p.Ala2915Glu)
c.6920C>A (p.Ala2307Glu)
c.6923C>A (p.Ala2308Glu)
n.5186C>A
c.8144C>A (p.Ala2715Glu)
c.7523C>A (p.Ala2508Glu)
c.8243C>A (p.Ala2748Glu)
c.8741C>A (p.Ala2914Glu)
c.6338C>A (p.Ala2113Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.237336360_237336374delCA2663792160COL6A3c.1375_1389del
c.8112_8126del (p.Lys2705_Ala2709del)
c.857_871del
n.997_1011del
c.8730_8744del (p.Lys2911_Ala2915del)
c.6906_6920del (p.Lys2303_Ala2307del)
c.6909_6923del (p.Lys2304_Ala2308del)
n.5172_5186del
c.8130_8144del (p.Lys2711_Ala2715del)
c.7509_7523del (p.Lys2504_Ala2508del)
c.8229_8243del (p.Lys2744_Ala2748del)
c.8727_8741del (p.Lys2910_Ala2914del)
c.6324_6338del (p.Lys2109_Ala2113del)
 gnomAD v4
2g.237336357C>ACA351191735COL6A3c.1388G>T
c.8125G>T (p.Ala2709Ser)
c.870G>T
n.1010G>T
c.8743G>T (p.Ala2915Ser)
c.6919G>T (p.Ala2307Ser)
c.6922G>T (p.Ala2308Ser)
n.5185G>T
c.8143G>T (p.Ala2715Ser)
c.7522G>T (p.Ala2508Ser)
c.8242G>T (p.Ala2748Ser)
c.8740G>T (p.Ala2914Ser)
c.6337G>T (p.Ala2113Ser)
2g.237336357C=CA1337607154COL6A3c.1388G=
c.8125G= (p.Ala2709=)
c.870G=
n.1010G=
c.8743G= (p.Ala2915=)
c.6919G= (p.Ala2307=)
c.6922G= (p.Ala2308=)
n.5185G=
c.8143G= (p.Ala2715=)
c.7522G= (p.Ala2508=)
c.8242G= (p.Ala2748=)
c.8740G= (p.Ala2914=)
c.6337G= (p.Ala2113=)
2g.237336357C>GCA351191734COL6A3c.1388G>C
c.8125G>C (p.Ala2709Pro)
c.870G>C
n.1010G>C
c.8743G>C (p.Ala2915Pro)
c.6919G>C (p.Ala2307Pro)
c.6922G>C (p.Ala2308Pro)
n.5185G>C
c.8143G>C (p.Ala2715Pro)
c.7522G>C (p.Ala2508Pro)
c.8242G>C (p.Ala2748Pro)
c.8740G>C (p.Ala2914Pro)
c.6337G>C (p.Ala2113Pro)
2g.237336357C>TCA2187452COL6A3c.1388G>A
c.8125G>A (p.Ala2709Thr)
c.870G>A
n.1010G>A
c.8743G>A (p.Ala2915Thr)
c.6919G>A (p.Ala2307Thr)
c.6922G>A (p.Ala2308Thr)
n.5185G>A
c.8143G>A (p.Ala2715Thr)
c.7522G>A (p.Ala2508Thr)
c.8242G>A (p.Ala2748Thr)
c.8740G>A (p.Ala2914Thr)
c.6337G>A (p.Ala2113Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336358A>CCA431702098COL6A3c.1387T>G
c.8124T>G (p.Pro2708=)
c.869T>G
n.1009T>G
c.8742T>G (p.Pro2914=)
c.6918T>G (p.Pro2306=)
c.6921T>G (p.Pro2307=)
n.5184T>G
c.8142T>G (p.Pro2714=)
c.7521T>G (p.Pro2507=)
c.8241T>G (p.Pro2747=)
c.8739T>G (p.Pro2913=)
c.6336T>G (p.Pro2112=)
2g.237336358A>GCA431702100COL6A3c.1387T>C
c.8124T>C (p.Pro2708=)
c.869T>C
n.1009T>C
c.8742T>C (p.Pro2914=)
c.6918T>C (p.Pro2306=)
c.6921T>C (p.Pro2307=)
n.5184T>C
c.8142T>C (p.Pro2714=)
c.7521T>C (p.Pro2507=)
c.8241T>C (p.Pro2747=)
c.8739T>C (p.Pro2913=)
c.6336T>C (p.Pro2112=)
2g.237336358A>TCA431702102COL6A3c.1387T>A
c.8124T>A (p.Pro2708=)
c.869T>A
n.1009T>A
c.8742T>A (p.Pro2914=)
c.6918T>A (p.Pro2306=)
c.6921T>A (p.Pro2307=)
n.5184T>A
c.8142T>A (p.Pro2714=)
c.7521T>A (p.Pro2507=)
c.8241T>A (p.Pro2747=)
c.8739T>A (p.Pro2913=)
c.6336T>A (p.Pro2112=)
2g.237336359G>ACA2187453COL6A3c.1386C>T
c.8123C>T (p.Pro2708Leu)
c.868C>T
n.1008C>T
c.8741C>T (p.Pro2914Leu)
c.6917C>T (p.Pro2306Leu)
c.6920C>T (p.Pro2307Leu)
n.5183C>T
c.8141C>T (p.Pro2714Leu)
c.7520C>T (p.Pro2507Leu)
c.8240C>T (p.Pro2747Leu)
c.8738C>T (p.Pro2913Leu)
c.6335C>T (p.Pro2112Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336359G>CCA351191736COL6A3c.1386C>G
c.8123C>G (p.Pro2708Arg)
c.868C>G
n.1008C>G
c.8741C>G (p.Pro2914Arg)
c.6917C>G (p.Pro2306Arg)
c.6920C>G (p.Pro2307Arg)
n.5183C>G
c.8141C>G (p.Pro2714Arg)
c.7520C>G (p.Pro2507Arg)
c.8240C>G (p.Pro2747Arg)
c.8738C>G (p.Pro2913Arg)
c.6335C>G (p.Pro2112Arg)
2g.237336359G=CA1337607155COL6A3c.1386C=
c.8123C= (p.Pro2708=)
c.868C=
n.1008C=
c.8741C= (p.Pro2914=)
c.6917C= (p.Pro2306=)
c.6920C= (p.Pro2307=)
n.5183C=
c.8141C= (p.Pro2714=)
c.7520C= (p.Pro2507=)
c.8240C= (p.Pro2747=)
c.8738C= (p.Pro2913=)
c.6335C= (p.Pro2112=)
2g.237336359G>TCA351191737COL6A3c.1386C>A
c.8123C>A (p.Pro2708His)
c.868C>A
n.1008C>A
c.8741C>A (p.Pro2914His)
c.6917C>A (p.Pro2306His)
c.6920C>A (p.Pro2307His)
n.5183C>A
c.8141C>A (p.Pro2714His)
c.7520C>A (p.Pro2507His)
c.8240C>A (p.Pro2747His)
c.8738C>A (p.Pro2913His)
c.6335C>A (p.Pro2112His)
2g.237336360G>ACA351191738COL6A3c.1385C>T
c.8122C>T (p.Pro2708Ser)
c.867C>T
n.1007C>T
c.8740C>T (p.Pro2914Ser)
c.6916C>T (p.Pro2306Ser)
c.6919C>T (p.Pro2307Ser)
n.5182C>T
c.8140C>T (p.Pro2714Ser)
c.7519C>T (p.Pro2507Ser)
c.8239C>T (p.Pro2747Ser)
c.8737C>T (p.Pro2913Ser)
c.6334C>T (p.Pro2112Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237336360G>CCA351191739COL6A3c.1385C>G
c.8122C>G (p.Pro2708Ala)
c.867C>G
n.1007C>G
c.8740C>G (p.Pro2914Ala)
c.6916C>G (p.Pro2306Ala)
c.6919C>G (p.Pro2307Ala)
n.5182C>G
c.8140C>G (p.Pro2714Ala)
c.7519C>G (p.Pro2507Ala)
c.8239C>G (p.Pro2747Ala)
c.8737C>G (p.Pro2913Ala)
c.6334C>G (p.Pro2112Ala)
2g.237336360G=CA1337607156COL6A3c.1385C=
c.8122C= (p.Pro2708=)
c.867C=
n.1007C=
c.8740C= (p.Pro2914=)
c.6916C= (p.Pro2306=)
c.6919C= (p.Pro2307=)
n.5182C=
c.8140C= (p.Pro2714=)
c.7519C= (p.Pro2507=)
c.8239C= (p.Pro2747=)
c.8737C= (p.Pro2913=)
c.6334C= (p.Pro2112=)
2g.237336360G>TCA351191740COL6A3c.1385C>A
c.8122C>A (p.Pro2708Thr)
c.867C>A
n.1007C>A
c.8740C>A (p.Pro2914Thr)
c.6916C>A (p.Pro2306Thr)
c.6919C>A (p.Pro2307Thr)
n.5182C>A
c.8140C>A (p.Pro2714Thr)
c.7519C>A (p.Pro2507Thr)
c.8239C>A (p.Pro2747Thr)
c.8737C>A (p.Pro2913Thr)
c.6334C>A (p.Pro2112Thr)
2g.237336361G>ACA431702114COL6A3c.1384C>T
c.8121C>T (p.Ala2707=)
c.866C>T
n.1006C>T
c.8739C>T (p.Ala2913=)
c.6915C>T (p.Ala2305=)
c.6918C>T (p.Ala2306=)
n.5181C>T
c.8139C>T (p.Ala2713=)
c.7518C>T (p.Ala2506=)
c.8238C>T (p.Ala2746=)
c.8736C>T (p.Ala2912=)
c.6333C>T (p.Ala2111=)
 dbSNP
2g.237336361G>CCA431702118COL6A3c.1384C>G
c.8121C>G (p.Ala2707=)
c.866C>G
n.1006C>G
c.8739C>G (p.Ala2913=)
c.6915C>G (p.Ala2305=)
c.6918C>G (p.Ala2306=)
n.5181C>G
c.8139C>G (p.Ala2713=)
c.7518C>G (p.Ala2506=)
c.8238C>G (p.Ala2746=)
c.8736C>G (p.Ala2912=)
c.6333C>G (p.Ala2111=)
2g.237336361G=CA1337607157COL6A3c.1384C=
c.8121C= (p.Ala2707=)
c.866C=
n.1006C=
c.8739C= (p.Ala2913=)
c.6915C= (p.Ala2305=)
c.6918C= (p.Ala2306=)
n.5181C=
c.8139C= (p.Ala2713=)
c.7518C= (p.Ala2506=)
c.8238C= (p.Ala2746=)
c.8736C= (p.Ala2912=)
c.6333C= (p.Ala2111=)
2g.237336361G>TCA431702116COL6A3c.1384C>A
c.8121C>A (p.Ala2707=)
c.866C>A
n.1006C>A
c.8739C>A (p.Ala2913=)
c.6915C>A (p.Ala2305=)
c.6918C>A (p.Ala2306=)
n.5181C>A
c.8139C>A (p.Ala2713=)
c.7518C>A (p.Ala2506=)
c.8238C>A (p.Ala2746=)
c.8736C>A (p.Ala2912=)
c.6333C>A (p.Ala2111=)
2g.237336362G>ACA351191741COL6A3c.1383C>T
c.8120C>T (p.Ala2707Val)
c.865C>T
n.1005C>T
c.8738C>T (p.Ala2913Val)
c.6914C>T (p.Ala2305Val)
c.6917C>T (p.Ala2306Val)
n.5180C>T
c.8138C>T (p.Ala2713Val)
c.7517C>T (p.Ala2506Val)
c.8237C>T (p.Ala2746Val)
c.8735C>T (p.Ala2912Val)
c.6332C>T (p.Ala2111Val)
 gnomAD v4
2g.237336362G>CCA351191742COL6A3c.1383C>G
c.8120C>G (p.Ala2707Gly)
c.865C>G
n.1005C>G
c.8738C>G (p.Ala2913Gly)
c.6914C>G (p.Ala2305Gly)
c.6917C>G (p.Ala2306Gly)
n.5180C>G
c.8138C>G (p.Ala2713Gly)
c.7517C>G (p.Ala2506Gly)
c.8237C>G (p.Ala2746Gly)
c.8735C>G (p.Ala2912Gly)
c.6332C>G (p.Ala2111Gly)
 gnomAD v4
2g.237336362G=CA1337607158COL6A3c.1383C=
c.8120C= (p.Ala2707=)
c.865C=
n.1005C=
c.8738C= (p.Ala2913=)
c.6914C= (p.Ala2305=)
c.6917C= (p.Ala2306=)
n.5180C=
c.8138C= (p.Ala2713=)
c.7517C= (p.Ala2506=)
c.8237C= (p.Ala2746=)
c.8735C= (p.Ala2912=)
c.6332C= (p.Ala2111=)
2g.237336362G>TCA351191743COL6A3c.1383C>A
c.8120C>A (p.Ala2707Asp)
c.865C>A
n.1005C>A
c.8738C>A (p.Ala2913Asp)
c.6914C>A (p.Ala2305Asp)
c.6917C>A (p.Ala2306Asp)
n.5180C>A
c.8138C>A (p.Ala2713Asp)
c.7517C>A (p.Ala2506Asp)
c.8237C>A (p.Ala2746Asp)
c.8735C>A (p.Ala2912Asp)
c.6332C>A (p.Ala2111Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336363C>ACA351191744COL6A3c.1382G>T
c.8119G>T (p.Ala2707Ser)
c.864G>T
n.1004G>T
c.8737G>T (p.Ala2913Ser)
c.6913G>T (p.Ala2305Ser)
c.6916G>T (p.Ala2306Ser)
n.5179G>T
c.8137G>T (p.Ala2713Ser)
c.7516G>T (p.Ala2506Ser)
c.8236G>T (p.Ala2746Ser)
c.8734G>T (p.Ala2912Ser)
c.6331G>T (p.Ala2111Ser)
 gnomAD v4
2g.237336363C>GCA351191745COL6A3c.1382G>C
c.8119G>C (p.Ala2707Pro)
c.864G>C
n.1004G>C
c.8737G>C (p.Ala2913Pro)
c.6913G>C (p.Ala2305Pro)
c.6916G>C (p.Ala2306Pro)
n.5179G>C
c.8137G>C (p.Ala2713Pro)
c.7516G>C (p.Ala2506Pro)
c.8236G>C (p.Ala2746Pro)
c.8734G>C (p.Ala2912Pro)
c.6331G>C (p.Ala2111Pro)
2g.237336363C>TCA351191746COL6A3c.1382G>A
c.8119G>A (p.Ala2707Thr)
c.864G>A
n.1004G>A
c.8737G>A (p.Ala2913Thr)
c.6913G>A (p.Ala2305Thr)
c.6916G>A (p.Ala2306Thr)
n.5179G>A
c.8137G>A (p.Ala2713Thr)
c.7516G>A (p.Ala2506Thr)
c.8236G>A (p.Ala2746Thr)
c.8734G>A (p.Ala2912Thr)
c.6331G>A (p.Ala2111Thr)
2g.237336364delCA2573130114COL6A3c.1382del
c.8119del (p.Ala2707ProfsTer24)
c.864del
n.1004del
c.8737del (p.Ala2913ProfsTer24)
c.6913del (p.Ala2305ProfsTer24)
c.6916del (p.Ala2306ProfsTer24)
n.5179del
c.8137del (p.Ala2713ProfsTer24)
c.7516del (p.Ala2506ProfsTer24)
c.8236del (p.Ala2746ProfsTer24)
c.8734del (p.Ala2912ProfsTer24)
c.6331del (p.Ala2111ProfsTer24)
2g.237336364C>ACA2187454COL6A3c.1381G>T
c.8118G>T (p.Pro2706=)
c.863G>T
n.1003G>T
c.8736G>T (p.Pro2912=)
c.6912G>T (p.Pro2304=)
c.6915G>T (p.Pro2305=)
n.5178G>T
c.8136G>T (p.Pro2712=)
c.7515G>T (p.Pro2505=)
c.8235G>T (p.Pro2745=)
c.8733G>T (p.Pro2911=)
c.6330G>T (p.Pro2110=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336364C=CA1337607159COL6A3c.1381G=
c.8118G= (p.Pro2706=)
c.863G=
n.1003G=
c.8736G= (p.Pro2912=)
c.6912G= (p.Pro2304=)
c.6915G= (p.Pro2305=)
n.5178G=
c.8136G= (p.Pro2712=)
c.7515G= (p.Pro2505=)
c.8235G= (p.Pro2745=)
c.8733G= (p.Pro2911=)
c.6330G= (p.Pro2110=)
2g.237336364C>GCA431702129COL6A3c.1381G>C
c.8118G>C (p.Pro2706=)
c.863G>C
n.1003G>C
c.8736G>C (p.Pro2912=)
c.6912G>C (p.Pro2304=)
c.6915G>C (p.Pro2305=)
n.5178G>C
c.8136G>C (p.Pro2712=)
c.7515G>C (p.Pro2505=)
c.8235G>C (p.Pro2745=)
c.8733G>C (p.Pro2911=)
c.6330G>C (p.Pro2110=)
2g.237336364C>TCA2187455COL6A3c.1381G>A
c.8118G>A (p.Pro2706=)
c.863G>A
n.1003G>A
c.8736G>A (p.Pro2912=)
c.6912G>A (p.Pro2304=)
c.6915G>A (p.Pro2305=)
n.5178G>A
c.8136G>A (p.Pro2712=)
c.7515G>A (p.Pro2505=)
c.8235G>A (p.Pro2745=)
c.8733G>A (p.Pro2911=)
c.6330G>A (p.Pro2110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336364_237336379delinsCGGCTTTGCAGCGGCTCA1337607160COL6A3c.1366_1381delinsAGCCGCTGCAAAGCCG
c.8103_8118delinsAGCCGCTGCAAAGCCG (p.Pro2701=)
c.848_863delinsAGCCGCTGCAAAGCCG
n.988_1003delinsAGCCGCTGCAAAGCCG
c.8721_8736delinsAGCCGCTGCAAAGCCG (p.Pro2907=)
c.6897_6912delinsAGCCGCTGCAAAGCCG (p.Pro2299=)
c.6900_6915delinsAGCCGCTGCAAAGCCG (p.Pro2300=)
n.5163_5178delinsAGCCGCTGCAAAGCCG
c.8121_8136delinsAGCCGCTGCAAAGCCG (p.Pro2707=)
c.7500_7515delinsAGCCGCTGCAAAGCCG (p.Pro2500=)
c.8220_8235delinsAGCCGCTGCAAAGCCG (p.Pro2740=)
c.8718_8733delinsAGCCGCTGCAAAGCCG (p.Pro2906=)
c.6315_6330delinsAGCCGCTGCAAAGCCG (p.Pro2105=)
2g.237336365G>ACA179921COL6A3c.1380C>T
c.8117C>T (p.Pro2706Leu)
c.862C>T
n.1002C>T
c.8735C>T (p.Pro2912Leu)
c.6911C>T (p.Pro2304Leu)
c.6914C>T (p.Pro2305Leu)
n.5177C>T
c.8135C>T (p.Pro2712Leu)
c.7514C>T (p.Pro2505Leu)
c.8234C>T (p.Pro2745Leu)
c.8732C>T (p.Pro2911Leu)
c.6329C>T (p.Pro2110Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336365G>CCA351191747COL6A3c.1380C>G
c.8117C>G (p.Pro2706Arg)
c.862C>G
n.1002C>G
c.8735C>G (p.Pro2912Arg)
c.6911C>G (p.Pro2304Arg)
c.6914C>G (p.Pro2305Arg)
n.5177C>G
c.8135C>G (p.Pro2712Arg)
c.7514C>G (p.Pro2505Arg)
c.8234C>G (p.Pro2745Arg)
c.8732C>G (p.Pro2911Arg)
c.6329C>G (p.Pro2110Arg)
2g.237336365G=CA1337607162COL6A3c.1380C=
c.8117C= (p.Pro2706=)
c.862C=
n.1002C=
c.8735C= (p.Pro2912=)
c.6911C= (p.Pro2304=)
c.6914C= (p.Pro2305=)
n.5177C=
c.8135C= (p.Pro2712=)
c.7514C= (p.Pro2505=)
c.8234C= (p.Pro2745=)
c.8732C= (p.Pro2911=)
c.6329C= (p.Pro2110=)
2g.237336365G>TCA351191748COL6A3c.1380C>A
c.8117C>A (p.Pro2706Gln)
c.862C>A
n.1002C>A
c.8735C>A (p.Pro2912Gln)
c.6911C>A (p.Pro2304Gln)
c.6914C>A (p.Pro2305Gln)
n.5177C>A
c.8135C>A (p.Pro2712Gln)
c.7514C>A (p.Pro2505Gln)
c.8234C>A (p.Pro2745Gln)
c.8732C>A (p.Pro2911Gln)
c.6329C>A (p.Pro2110Gln)
 gnomAD v4
2g.237336370_237336384delCA1337607161COL6A3c.1366_1380del
c.8103_8117del (p.Ala2702_Pro2706del)
c.848_862del
n.988_1002del
c.8721_8735del (p.Ala2908_Pro2912del)
c.6897_6911del (p.Ala2300_Pro2304del)
c.6900_6914del (p.Ala2301_Pro2305del)
n.5163_5177del
c.8121_8135del (p.Ala2708_Pro2712del)
c.7500_7514del (p.Ala2501_Pro2505del)
c.8220_8234del (p.Ala2741_Pro2745del)
c.8718_8732del (p.Ala2907_Pro2911del)
c.6315_6329del (p.Ala2106_Pro2110del)
 dbSNP gnomAD v4
2g.237336366G>ACA351191749COL6A3c.1379C>T
c.8116C>T (p.Pro2706Ser)
c.861C>T
n.1001C>T
c.8734C>T (p.Pro2912Ser)
c.6910C>T (p.Pro2304Ser)
c.6913C>T (p.Pro2305Ser)
n.5176C>T
c.8134C>T (p.Pro2712Ser)
c.7513C>T (p.Pro2505Ser)
c.8233C>T (p.Pro2745Ser)
c.8731C>T (p.Pro2911Ser)
c.6328C>T (p.Pro2110Ser)
2g.237336366G>CCA351191750COL6A3c.1379C>G
c.8116C>G (p.Pro2706Ala)
c.861C>G
n.1001C>G
c.8734C>G (p.Pro2912Ala)
c.6910C>G (p.Pro2304Ala)
c.6913C>G (p.Pro2305Ala)
n.5176C>G
c.8134C>G (p.Pro2712Ala)
c.7513C>G (p.Pro2505Ala)
c.8233C>G (p.Pro2745Ala)
c.8731C>G (p.Pro2911Ala)
c.6328C>G (p.Pro2110Ala)
2g.237336366G>TCA351191751COL6A3c.1379C>A
c.8116C>A (p.Pro2706Thr)
c.861C>A
n.1001C>A
c.8734C>A (p.Pro2912Thr)
c.6910C>A (p.Pro2304Thr)
c.6913C>A (p.Pro2305Thr)
n.5176C>A
c.8134C>A (p.Pro2712Thr)
c.7513C>A (p.Pro2505Thr)
c.8233C>A (p.Pro2745Thr)
c.8731C>A (p.Pro2911Thr)
c.6328C>A (p.Pro2110Thr)
2g.237336367C>ACA351191753COL6A3c.1378G>T
c.8115G>T (p.Lys2705Asn)
c.860G>T
n.1000G>T
c.8733G>T (p.Lys2911Asn)
c.6909G>T (p.Lys2303Asn)
c.6912G>T (p.Lys2304Asn)
n.5175G>T
c.8133G>T (p.Lys2711Asn)
c.7512G>T (p.Lys2504Asn)
c.8232G>T (p.Lys2744Asn)
c.8730G>T (p.Lys2910Asn)
c.6327G>T (p.Lys2109Asn)
 COSMIC
2g.237336367C=CA1337607163COL6A3c.1378G=
c.8115G= (p.Lys2705=)
c.860G=
n.1000G=
c.8733G= (p.Lys2911=)
c.6909G= (p.Lys2303=)
c.6912G= (p.Lys2304=)
n.5175G=
c.8133G= (p.Lys2711=)
c.7512G= (p.Lys2504=)
c.8232G= (p.Lys2744=)
c.8730G= (p.Lys2910=)
c.6327G= (p.Lys2109=)
2g.237336367C>GCA351191752COL6A3c.1378G>C
c.8115G>C (p.Lys2705Asn)
c.860G>C
n.1000G>C
c.8733G>C (p.Lys2911Asn)
c.6909G>C (p.Lys2303Asn)
c.6912G>C (p.Lys2304Asn)
n.5175G>C
c.8133G>C (p.Lys2711Asn)
c.7512G>C (p.Lys2504Asn)
c.8232G>C (p.Lys2744Asn)
c.8730G>C (p.Lys2910Asn)
c.6327G>C (p.Lys2109Asn)
 dbSNP
2g.237336367C>TCA431702148COL6A3c.1378G>A
c.8115G>A (p.Lys2705=)
c.860G>A
n.1000G>A
c.8733G>A (p.Lys2911=)
c.6909G>A (p.Lys2303=)
c.6912G>A (p.Lys2304=)
n.5175G>A
c.8133G>A (p.Lys2711=)
c.7512G>A (p.Lys2504=)
c.8232G>A (p.Lys2744=)
c.8730G>A (p.Lys2910=)
c.6327G>A (p.Lys2109=)
 gnomAD v4
2g.237336368T>ACA351191754COL6A3c.1377A>T
c.8114A>T (p.Lys2705Met)
c.859A>T
n.999A>T
c.8732A>T (p.Lys2911Met)
c.6908A>T (p.Lys2303Met)
c.6911A>T (p.Lys2304Met)
n.5174A>T
c.8132A>T (p.Lys2711Met)
c.7511A>T (p.Lys2504Met)
c.8231A>T (p.Lys2744Met)
c.8729A>T (p.Lys2910Met)
c.6326A>T (p.Lys2109Met)

Number of alleles fetched