Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.48570204A=CA1363079431COL7A1c.7441-26T= (p.=)
c.436-26T= (p.=)
n.238T=
n.261T=
n.4080-26T=
c.7468-26T= (p.=)
c.7408-26T= (p.=)
c.*16T= (p.=)
c.*2T=
c.7382-26T= (p.=)
n.7504-26T=
n.7478-26T=
c.7381-26T= (p.=)
c.7355-26T= (p.=)
n.7477-26T=
n.7451-26T=
3g.48570204A>TCA2378497COL7A1c.7441-26T>A (p.=)
c.436-26T>A (p.=)
n.238T>A
n.261T>A
n.4080-26T>A
c.7468-26T>A (p.=)
c.7408-26T>A (p.=)
c.*16T>A (p.=)
c.*2T>A
c.7382-26T>A (p.=)
n.7504-26T>A
n.7478-26T>A
c.7381-26T>A (p.=)
c.7355-26T>A (p.=)
n.7477-26T>A
n.7451-26T>A
dbSNP ExAC gnomAD
3g.48570206T>GCA1363079435COL7A1c.7441-28A>C (p.=)
c.436-28A>C (p.=)
n.236A>C
n.259A>C
n.4080-28A>C
c.7468-28A>C (p.=)
c.7408-28A>C (p.=)
c.*14A>C (p.=)
c.7428A>C (p.Ter2476Cys)
c.7382-28A>C (p.=)
n.7504-28A>C
n.7478-28A>C
c.7381-28A>C (p.=)
c.7401A>C (p.Ter2467Cys)
c.7355-28A>C (p.=)
n.7477-28A>C
n.7451-28A>C
3g.48570206T=CA1363079434COL7A1c.7441-28A= (p.=)
c.436-28A= (p.=)
n.236A=
n.259A=
n.4080-28A=
c.7468-28A= (p.=)
c.7408-28A= (p.=)
c.*14A= (p.=)
c.7428A= (p.Ter2476=)
c.7382-28A= (p.=)
n.7504-28A=
n.7478-28A=
c.7381-28A= (p.=)
c.7401A= (p.Ter2467=)
c.7355-28A= (p.=)
n.7477-28A=
n.7451-28A=
3g.48570208A=CA1363079436COL7A1c.7441-30T= (p.=)
c.436-30T= (p.=)
n.234T=
n.257T=
n.4080-30T=
c.7468-30T= (p.=)
c.7408-30T= (p.=)
c.*12T= (p.=)
c.7426T= (p.Ter2476=)
c.7382-30T= (p.=)
n.7504-30T=
n.7478-30T=
c.7381-30T= (p.=)
c.7399T= (p.Ter2467=)
c.7355-30T= (p.=)
n.7477-30T=
n.7451-30T=
3g.48570208A>CCA542789400COL7A1c.7441-30T>G (p.=)
c.436-30T>G (p.=)
n.234T>G
n.257T>G
n.4080-30T>G
c.7468-30T>G (p.=)
c.7408-30T>G (p.=)
c.*12T>G (p.=)
c.7426T>G (p.Ter2476Gly)
c.7382-30T>G (p.=)
n.7504-30T>G
n.7478-30T>G
c.7381-30T>G (p.=)
c.7399T>G (p.Ter2467Gly)
c.7355-30T>G (p.=)
n.7477-30T>G
n.7451-30T>G
gnomAD
3g.48570209G=CA1363079438COL7A1c.7441-31C= (p.=)
c.436-31C= (p.=)
n.233C=
n.256C=
n.4080-31C=
c.7468-31C= (p.=)
c.7408-31C= (p.=)
c.*11C= (p.=)
c.7425C= (p.Leu2475=)
c.7382-31C= (p.=)
n.7504-31C=
n.7478-31C=
c.7381-31C= (p.=)
c.7398C= (p.Leu2466=)
c.7355-31C= (p.=)
n.7477-31C=
n.7451-31C=
3g.48570209_48570210insTCA1363079439COL7A1c.7441-32_7441-31insA (p.=)
c.436-32_436-31insA (p.=)
n.232_233insA
n.255_256insA
n.4080-32_4080-31insA
c.7468-32_7468-31insA (p.=)
c.7408-32_7408-31insA (p.=)
c.*10_*11insA (p.=)
c.7424_7425insA (p.Ter2476LeuextTer4)
c.7382-32_7382-31insA (p.=)
n.7504-32_7504-31insA
n.7478-32_7478-31insA
c.7381-32_7381-31insA (p.=)
c.7397_7398insA (p.Ter2467LeuextTer4)
c.7355-32_7355-31insA (p.=)
n.7477-32_7477-31insA
n.7451-32_7451-31insA
dbSNP
3g.48570212G=CA1363079447COL7A1c.7441-34C= (p.=)
c.436-34C= (p.=)
n.230C=
n.253C=
n.4080-34C=
c.7468-34C= (p.=)
c.7408-34C= (p.=)
c.*8C= (p.=)
c.7422C= (p.Asn2474=)
c.7382-34C= (p.=)
n.7504-34C=
n.7478-34C=
c.7381-34C= (p.=)
c.7395C= (p.Asn2465=)
c.7355-34C= (p.=)
n.7477-34C=
n.7451-34C=
3g.48570212G>TCA2378498COL7A1c.7441-34C>A (p.=)
c.436-34C>A (p.=)
n.230C>A
n.253C>A
n.4080-34C>A
c.7468-34C>A (p.=)
c.7408-34C>A (p.=)
c.*8C>A (p.=)
c.7422C>A (p.Asn2474Lys)
c.7382-34C>A (p.=)
n.7504-34C>A
n.7478-34C>A
c.7381-34C>A (p.=)
c.7395C>A (p.Asn2465Lys)
c.7355-34C>A (p.=)
n.7477-34C>A
n.7451-34C>A
dbSNP ExAC gnomAD
3g.48570213T>CCA2378499COL7A1c.7441-35A>G (p.=)
c.436-35A>G (p.=)
n.229A>G
n.252A>G
n.4080-35A>G
c.7468-35A>G (p.=)
c.7408-35A>G (p.=)
c.*7A>G (p.=)
c.7421A>G (p.Asn2474Ser)
c.7382-35A>G (p.=)
n.7504-35A>G
n.7478-35A>G
c.7381-35A>G (p.=)
c.7394A>G (p.Asn2465Ser)
c.7355-35A>G (p.=)
n.7477-35A>G
n.7451-35A>G
dbSNP ExAC gnomAD
3g.48570213T>GCA1363079452COL7A1c.7441-35A>C (p.=)
c.436-35A>C (p.=)
n.229A>C
n.252A>C
n.4080-35A>C
c.7468-35A>C (p.=)
c.7408-35A>C (p.=)
c.*7A>C (p.=)
c.7421A>C (p.Asn2474Thr)
c.7382-35A>C (p.=)
n.7504-35A>C
n.7478-35A>C
c.7381-35A>C (p.=)
c.7394A>C (p.Asn2465Thr)
c.7355-35A>C (p.=)
n.7477-35A>C
n.7451-35A>C
3g.48570213T=CA1363079450COL7A1c.7441-35A= (p.=)
c.436-35A= (p.=)
n.229A=
n.252A=
n.4080-35A=
c.7468-35A= (p.=)
c.7408-35A= (p.=)
c.*7A= (p.=)
c.7421A= (p.Asn2474=)
c.7382-35A= (p.=)
n.7504-35A=
n.7478-35A=
c.7381-35A= (p.=)
c.7394A= (p.Asn2465=)
c.7355-35A= (p.=)
n.7477-35A=
n.7451-35A=
3g.48570215G>ACA2378500COL7A1c.7441-37C>T (p.=)
c.436-37C>T (p.=)
n.227C>T
n.250C>T
n.4080-37C>T
c.7468-37C>T (p.=)
c.7408-37C>T (p.=)
c.*5C>T (p.=)
c.7419C>T (p.Ser2473=)
c.7382-37C>T (p.=)
n.7504-37C>T
n.7478-37C>T
c.7381-37C>T (p.=)
c.7392C>T (p.Ser2464=)
c.7355-37C>T (p.=)
n.7477-37C>T
n.7451-37C>T
dbSNP ExAC gnomAD
3g.48570215G=CA1363079456COL7A1c.7441-37C= (p.=)
c.436-37C= (p.=)
n.227C=
n.250C=
n.4080-37C=
c.7468-37C= (p.=)
c.7408-37C= (p.=)
c.*5C= (p.=)
c.7419C= (p.Ser2473=)
c.7382-37C= (p.=)
n.7504-37C=
n.7478-37C=
c.7381-37C= (p.=)
c.7392C= (p.Ser2464=)
c.7355-37C= (p.=)
n.7477-37C=
n.7451-37C=
3g.48570216G=CA1363079460COL7A1c.7441-38C= (p.=)
c.436-38C= (p.=)
n.226C=
n.249C=
n.4080-38C=
c.7468-38C= (p.=)
c.7408-38C= (p.=)
c.*4C= (p.=)
c.7418C= (p.Ser2473=)
c.7382-38C= (p.=)
n.7504-38C=
n.7478-38C=
c.7381-38C= (p.=)
c.7391C= (p.Ser2464=)
c.7355-38C= (p.=)
n.7477-38C=
n.7451-38C=
3g.48570216G>TCA907758800COL7A1c.7441-38C>A (p.=)
c.436-38C>A (p.=)
n.226C>A
n.249C>A
n.4080-38C>A
c.7468-38C>A (p.=)
c.7408-38C>A (p.=)
c.*4C>A (p.=)
c.7418C>A (p.Ser2473Tyr)
c.7382-38C>A (p.=)
n.7504-38C>A
n.7478-38C>A
c.7381-38C>A (p.=)
c.7391C>A (p.Ser2464Tyr)
c.7355-38C>A (p.=)
n.7477-38C>A
n.7451-38C>A
3g.48570221C=CA1363079464COL7A1c.7441-43G= (p.=)
c.436-43G= (p.=)
n.221G=
n.244G=
n.4080-43G=
c.7468-43G= (p.=)
c.7408-43G= (p.=)
c.7439G= (p.Ter2480=)
c.7413G= (p.Leu2471=)
c.7382-43G= (p.=)
n.7504-43G=
n.7478-43G=
c.7381-43G= (p.=)
c.7412G= (p.Ter2471=)
c.7386G= (p.Leu2462=)
c.7355-43G= (p.=)
n.7477-43G=
n.7451-43G=
3g.48570221C>TCA2378501COL7A1c.7441-43G>A (p.=)
c.436-43G>A (p.=)
n.221G>A
n.244G>A
n.4080-43G>A
c.7468-43G>A (p.=)
c.7408-43G>A (p.=)
c.7439G>A (p.Ter2480=)
c.7413G>A (p.Leu2471=)
c.7382-43G>A (p.=)
n.7504-43G>A
n.7478-43G>A
c.7381-43G>A (p.=)
c.7412G>A (p.Ter2471=)
c.7386G>A (p.Leu2462=)
c.7355-43G>A (p.=)
n.7477-43G>A
n.7451-43G>A
dbSNP ExAC gnomAD
3g.48570228A=CA1363079466COL7A1c.7440+47T= (p.=)
c.435+47T= (p.=)
n.214T=
n.237T=
n.4079+47T=
c.7467+47T= (p.=)
c.7408-50T= (p.=)
c.7432T= (p.Cys2478=)
c.7406T= (p.Leu2469=)
c.7382-50T= (p.=)
n.7503+47T=
n.7477+47T=
c.7381-50T= (p.=)
c.7405T= (p.Cys2469=)
c.7379T= (p.Leu2460=)
c.7355-50T= (p.=)
n.7476+47T=
n.7450+47T=
3g.48570228A>GCA1363079468COL7A1c.7440+47T>C (p.=)
c.435+47T>C (p.=)
n.214T>C
n.237T>C
n.4079+47T>C
c.7467+47T>C (p.=)
c.7408-50T>C (p.=)
c.7432T>C (p.Cys2478Arg)
c.7406T>C (p.Leu2469Ser)
c.7382-50T>C (p.=)
n.7503+47T>C
n.7477+47T>C
c.7381-50T>C (p.=)
c.7405T>C (p.Cys2469Arg)
c.7379T>C (p.Leu2460Ser)
c.7355-50T>C (p.=)
n.7476+47T>C
n.7450+47T>C
3g.48570230G>ACA542789405COL7A1c.7440+45C>T (p.=)
c.435+45C>T (p.=)
n.212C>T
n.235C>T
n.4079+45C>T
c.7467+45C>T (p.=)
c.7408-52C>T (p.=)
c.7430C>T (p.Ser2477Phe)
c.7404C>T (p.Leu2468=)
c.7382-52C>T (p.=)
n.7503+45C>T
n.7477+45C>T
c.7381-52C>T (p.=)
c.7403C>T (p.Ser2468Phe)
c.7377C>T (p.Leu2459=)
c.7355-52C>T (p.=)
n.7476+45C>T
n.7450+45C>T
gnomAD
3g.48570230G=CA1363079470COL7A1c.7440+45C= (p.=)
c.435+45C= (p.=)
n.212C=
n.235C=
n.4079+45C=
c.7467+45C= (p.=)
c.7408-52C= (p.=)
c.7430C= (p.Ser2477=)
c.7404C= (p.Leu2468=)
c.7382-52C= (p.=)
n.7503+45C=
n.7477+45C=
c.7381-52C= (p.=)
c.7403C= (p.Ser2468=)
c.7377C= (p.Leu2459=)
c.7355-52C= (p.=)
n.7476+45C=
n.7450+45C=
3g.48570231A=CA1363079473COL7A1c.7440+44T= (p.=)
c.435+44T= (p.=)
n.211T=
n.234T=
n.4079+44T=
c.7467+44T= (p.=)
c.7408-53T= (p.=)
c.7429T= (p.Ser2477=)
c.7403T= (p.Leu2468=)
c.7382-53T= (p.=)
n.7503+44T=
n.7477+44T=
c.7381-53T= (p.=)
c.7402T= (p.Ser2468=)
c.7376T= (p.Leu2459=)
c.7355-53T= (p.=)
n.7476+44T=
n.7450+44T=
3g.48570231A>CCA2378502COL7A1c.7440+44T>G (p.=)
c.435+44T>G (p.=)
n.211T>G
n.234T>G
n.4079+44T>G
c.7467+44T>G (p.=)
c.7408-53T>G (p.=)
c.7429T>G (p.Ser2477Ala)
c.7403T>G (p.Leu2468Arg)
c.7382-53T>G (p.=)
n.7503+44T>G
n.7477+44T>G
c.7381-53T>G (p.=)
c.7402T>G (p.Ser2468Ala)
c.7376T>G (p.Leu2459Arg)
c.7355-53T>G (p.=)
n.7476+44T>G
n.7450+44T>G
dbSNP ExAC gnomAD
3g.48570233C=CA1363079475COL7A1c.7440+42G= (p.=)
c.435+42G= (p.=)
n.209G=
n.232G=
n.4079+42G=
c.7467+42G= (p.=)
c.7408-55G= (p.=)
c.7427G= (p.Ser2476=)
c.7401G= (p.Gln2467=)
c.7382-55G= (p.=)
n.7503+42G=
n.7477+42G=
c.7381-55G= (p.=)
c.7400G= (p.Ser2467=)
c.7374G= (p.Gln2458=)
c.7355-55G= (p.=)
n.7476+42G=
n.7450+42G=
3g.48570233C>GCA542789409COL7A1c.7440+42G>C (p.=)
c.435+42G>C (p.=)
n.209G>C
n.232G>C
n.4079+42G>C
c.7467+42G>C (p.=)
c.7408-55G>C (p.=)
c.7427G>C (p.Ser2476Thr)
c.7401G>C (p.Gln2467His)
c.7382-55G>C (p.=)
n.7503+42G>C
n.7477+42G>C
c.7381-55G>C (p.=)
c.7400G>C (p.Ser2467Thr)
c.7374G>C (p.Gln2458His)
c.7355-55G>C (p.=)
n.7476+42G>C
n.7450+42G>C
gnomAD
3g.48570236G>ACA1363079481COL7A1c.7440+39C>T (p.=)
c.435+39C>T (p.=)
n.206C>T
n.229C>T
n.4079+39C>T
c.7467+39C>T (p.=)
c.7408-58C>T (p.=)
c.7424C>T (p.Pro2475Leu)
c.7398C>T (p.Ser2466=)
c.7382-58C>T (p.=)
n.7503+39C>T
n.7477+39C>T
c.7381-58C>T (p.=)
c.7397C>T (p.Pro2466Leu)
c.7371C>T (p.Ser2457=)
c.7355-58C>T (p.=)
n.7476+39C>T
n.7450+39C>T
3g.48570236G>CCA1047677077COL7A1c.7440+39C>G (p.=)
c.435+39C>G (p.=)
n.206C>G
n.229C>G
n.4079+39C>G
c.7467+39C>G (p.=)
c.7408-58C>G (p.=)
c.7424C>G (p.Pro2475Arg)
c.7398C>G (p.Ser2466=)
c.7382-58C>G (p.=)
n.7503+39C>G
n.7477+39C>G
c.7381-58C>G (p.=)
c.7397C>G (p.Pro2466Arg)
c.7371C>G (p.Ser2457=)
c.7355-58C>G (p.=)
n.7476+39C>G
n.7450+39C>G
3g.48570236G=CA1363079480COL7A1c.7440+39C= (p.=)
c.435+39C= (p.=)
n.206C=
n.229C=
n.4079+39C=
c.7467+39C= (p.=)
c.7408-58C= (p.=)
c.7424C= (p.Pro2475=)
c.7398C= (p.Ser2466=)
c.7382-58C= (p.=)
n.7503+39C=
n.7477+39C=
c.7381-58C= (p.=)
c.7397C= (p.Pro2466=)
c.7371C= (p.Ser2457=)
c.7355-58C= (p.=)
n.7476+39C=
n.7450+39C=
3g.48570237G>CCA907758805COL7A1c.7440+38C>G (p.=)
c.435+38C>G (p.=)
n.205C>G
n.228C>G
n.4079+38C>G
c.7467+38C>G (p.=)
c.7408-59C>G (p.=)
c.7423C>G (p.Pro2475Ala)
c.7397C>G (p.Ser2466Cys)
c.7382-59C>G (p.=)
n.7503+38C>G
n.7477+38C>G
c.7381-59C>G (p.=)
c.7396C>G (p.Pro2466Ala)
c.7370C>G (p.Ser2457Cys)
c.7355-59C>G (p.=)
n.7476+38C>G
n.7450+38C>G
3g.48570237G=CA1363079486COL7A1c.7440+38C= (p.=)
c.435+38C= (p.=)
n.205C=
n.228C=
n.4079+38C=
c.7467+38C= (p.=)
c.7408-59C= (p.=)
c.7423C= (p.Pro2475=)
c.7397C= (p.Ser2466=)
c.7382-59C= (p.=)
n.7503+38C=
n.7477+38C=
c.7381-59C= (p.=)
c.7396C= (p.Pro2466=)
c.7370C= (p.Ser2457=)
c.7355-59C= (p.=)
n.7476+38C=
n.7450+38C=
3g.48570240G>ACA542789411COL7A1c.7440+35C>T (p.=)
c.435+35C>T (p.=)
n.202C>T
n.225C>T
n.4079+35C>T
c.7467+35C>T (p.=)
c.7408-62C>T (p.=)
c.7420C>T (p.His2474Tyr)
c.7394C>T (p.Ser2465Leu)
c.7382-62C>T (p.=)
n.7503+35C>T
n.7477+35C>T
c.7381-62C>T (p.=)
c.7393C>T (p.His2465Tyr)
c.7367C>T (p.Ser2456Leu)
c.7355-62C>T (p.=)
n.7476+35C>T
n.7450+35C>T
gnomAD
3g.48570240G=CA1363079490COL7A1c.7440+35C= (p.=)
c.435+35C= (p.=)
n.202C=
n.225C=
n.4079+35C=
c.7467+35C= (p.=)
c.7408-62C= (p.=)
c.7420C= (p.His2474=)
c.7394C= (p.Ser2465=)
c.7382-62C= (p.=)
n.7503+35C=
n.7477+35C=
c.7381-62C= (p.=)
c.7393C= (p.His2465=)
c.7367C= (p.Ser2456=)
c.7355-62C= (p.=)
n.7476+35C=
n.7450+35C=
3g.48570243G>ACA542789412COL7A1c.7440+32C>T (p.=)
c.435+32C>T (p.=)
n.199C>T
n.222C>T
n.4079+32C>T
c.7467+32C>T (p.=)
c.7408-65C>T (p.=)
c.7417C>T (p.Leu2473Phe)
c.7391C>T (p.Pro2464Leu)
c.7382-65C>T (p.=)
n.7503+32C>T
n.7477+32C>T
c.7381-65C>T (p.=)
c.7390C>T (p.Leu2464Phe)
c.7364C>T (p.Pro2455Leu)
c.7355-65C>T (p.=)
n.7476+32C>T
n.7450+32C>T
gnomAD
3g.48570243G=CA1363079496COL7A1c.7440+32C= (p.=)
c.435+32C= (p.=)
n.199C=
n.222C=
n.4079+32C=
c.7467+32C= (p.=)
c.7408-65C= (p.=)
c.7417C= (p.Leu2473=)
c.7391C= (p.Pro2464=)
c.7382-65C= (p.=)
n.7503+32C=
n.7477+32C=
c.7381-65C= (p.=)
c.7390C= (p.Leu2464=)
c.7364C= (p.Pro2455=)
c.7355-65C= (p.=)
n.7476+32C=
n.7450+32C=
3g.48570244G>ACA73974095COL7A1c.7440+31C>T (p.=)
c.435+31C>T (p.=)
n.198C>T
n.221C>T
n.4079+31C>T
c.7467+31C>T (p.=)
c.7408-66C>T (p.=)
c.7416C>T (p.Ser2472=)
c.7390C>T (p.Pro2464Ser)
c.7382-66C>T (p.=)
n.7503+31C>T
n.7477+31C>T
c.7381-66C>T (p.=)
c.7389C>T (p.Ser2463=)
c.7363C>T (p.Pro2455Ser)
c.7355-66C>T (p.=)
n.7476+31C>T
n.7450+31C>T
dbSNP
3g.48570244G=CA1363079497COL7A1c.7440+31C= (p.=)
c.435+31C= (p.=)
n.198C=
n.221C=
n.4079+31C=
c.7467+31C= (p.=)
c.7408-66C= (p.=)
c.7416C= (p.Ser2472=)
c.7390C= (p.Pro2464=)
c.7382-66C= (p.=)
n.7503+31C=
n.7477+31C=
c.7381-66C= (p.=)
c.7389C= (p.Ser2463=)
c.7363C= (p.Pro2455=)
c.7355-66C= (p.=)
n.7476+31C=
n.7450+31C=
3g.48570245G>CCA2378503COL7A1c.7440+30C>G (p.=)
c.435+30C>G (p.=)
n.197C>G
n.220C>G
n.4079+30C>G
c.7467+30C>G (p.=)
c.7408-67C>G (p.=)
c.7415C>G (p.Ser2472Cys)
c.7389C>G (p.Leu2463=)
c.7382-67C>G (p.=)
n.7503+30C>G
n.7477+30C>G
c.7381-67C>G (p.=)
c.7388C>G (p.Ser2463Cys)
c.7362C>G (p.Leu2454=)
c.7355-67C>G (p.=)
n.7476+30C>G
n.7450+30C>G
dbSNP ExAC gnomAD
3g.48570245G=CA1363079499COL7A1c.7440+30C= (p.=)
c.435+30C= (p.=)
n.197C=
n.220C=
n.4079+30C=
c.7467+30C= (p.=)
c.7408-67C= (p.=)
c.7415C= (p.Ser2472=)
c.7389C= (p.Leu2463=)
c.7382-67C= (p.=)
n.7503+30C=
n.7477+30C=
c.7381-67C= (p.=)
c.7388C= (p.Ser2463=)
c.7362C= (p.Leu2454=)
c.7355-67C= (p.=)
n.7476+30C=
n.7450+30C=
3g.48570248T>ACA2378504COL7A1c.7440+27A>T (p.=)
c.435+27A>T (p.=)
n.194A>T
n.217A>T
n.4079+27A>T
c.7467+27A>T (p.=)
c.7408-70A>T (p.=)
c.7412A>T (p.Asn2471Ile)
c.7386A>T (p.Glu2462Asp)
c.7382-70A>T (p.=)
n.7503+27A>T
n.7477+27A>T
c.7381-70A>T (p.=)
c.7385A>T (p.Asn2462Ile)
c.7359A>T (p.Glu2453Asp)
c.7355-70A>T (p.=)
n.7476+27A>T
n.7450+27A>T
dbSNP ExAC
3g.48570248T=CA1363079502COL7A1c.7440+27A= (p.=)
c.435+27A= (p.=)
n.194A=
n.217A=
n.4079+27A=
c.7467+27A= (p.=)
c.7408-70A= (p.=)
c.7412A= (p.Asn2471=)
c.7386A= (p.Glu2462=)
c.7382-70A= (p.=)
n.7503+27A=
n.7477+27A=
c.7381-70A= (p.=)
c.7385A= (p.Asn2462=)
c.7359A= (p.Glu2453=)
c.7355-70A= (p.=)
n.7476+27A=
n.7450+27A=
3g.48570250C=CA1363079505COL7A1c.7440+25G= (p.=)
c.435+25G= (p.=)
n.192G=
n.215G=
n.4079+25G=
c.7467+25G= (p.=)
c.7408-72G= (p.=)
c.7410G= (p.Pro2470=)
c.7384G= (p.Glu2462=)
c.7382-72G= (p.=)
n.7503+25G=
n.7477+25G=
c.7381-72G= (p.=)
c.7383G= (p.Pro2461=)
c.7357G= (p.Glu2453=)
c.7355-72G= (p.=)
n.7476+25G=
n.7450+25G=
3g.48570250C>TCA543045478COL7A1c.7440+25G>A (p.=)
c.435+25G>A (p.=)
n.192G>A
n.215G>A
n.4079+25G>A
c.7467+25G>A (p.=)
c.7408-72G>A (p.=)
c.7410G>A (p.Pro2470=)
c.7384G>A (p.Glu2462Lys)
c.7382-72G>A (p.=)
n.7503+25G>A
n.7477+25G>A
c.7381-72G>A (p.=)
c.7383G>A (p.Pro2461=)
c.7357G>A (p.Glu2453Lys)
c.7355-72G>A (p.=)
n.7476+25G>A
n.7450+25G>A
gnomAD
3g.48570251G>ACA543045479COL7A1c.7440+24C>T (p.=)
c.435+24C>T (p.=)
n.191C>T
n.214C>T
n.4079+24C>T
c.7467+24C>T (p.=)
c.7408-73C>T (p.=)
c.7409C>T (p.Pro2470Leu)
c.7383C>T (p.Ala2461=)
c.7382-73C>T (p.=)
n.7503+24C>T
n.7477+24C>T
c.7381-73C>T (p.=)
c.7382C>T (p.Pro2461Leu)
c.7356C>T (p.Ala2452=)
c.7355-73C>T (p.=)
n.7476+24C>T
n.7450+24C>T
gnomAD
3g.48570251G=CA1363079507COL7A1c.7440+24C= (p.=)
c.435+24C= (p.=)
n.191C=
n.214C=
n.4079+24C=
c.7467+24C= (p.=)
c.7408-73C= (p.=)
c.7409C= (p.Pro2470=)
c.7383C= (p.Ala2461=)
c.7382-73C= (p.=)
n.7503+24C=
n.7477+24C=
c.7381-73C= (p.=)
c.7382C= (p.Pro2461=)
c.7356C= (p.Ala2452=)
c.7355-73C= (p.=)
n.7476+24C=
n.7450+24C=
3g.48570255G>ACA543045480COL7A1c.7440+20C>T (p.=)
c.435+20C>T (p.=)
n.187C>T
n.210C>T
n.4079+20C>T
c.7467+20C>T (p.=)
c.7408-77C>T (p.=)
c.7408-3C>T (p.=)
c.7382-3C>T (p.=)
c.7382-77C>T (p.=)
n.7503+20C>T
n.7477+20C>T
c.7381-77C>T (p.=)
c.7381-3C>T (p.=)
c.7355-3C>T (p.=)
c.7355-77C>T (p.=)
n.7476+20C>T
n.7450+20C>T
gnomAD
3g.48570255G=CA1363079509COL7A1c.7440+20C= (p.=)
c.435+20C= (p.=)
n.187C=
n.210C=
n.4079+20C=
c.7467+20C= (p.=)
c.7408-77C= (p.=)
c.7408-3C= (p.=)
c.7382-3C= (p.=)
c.7382-77C= (p.=)
n.7503+20C=
n.7477+20C=
c.7381-77C= (p.=)
c.7381-3C= (p.=)
c.7355-3C= (p.=)
c.7355-77C= (p.=)
n.7476+20C=
n.7450+20C=
3g.48570259A=CA1363079512COL7A1c.7440+16T= (p.=)
c.435+16T= (p.=)
n.183T=
n.206T=
n.4079+16T=
c.7467+16T= (p.=)
c.7408-81T= (p.=)
c.7408-7T= (p.=)
c.7382-7T= (p.=)
c.7382-81T= (p.=)
n.7503+16T=
n.7477+16T=
c.7381-81T= (p.=)
c.7381-7T= (p.=)
c.7355-7T= (p.=)
c.7355-81T= (p.=)
n.7476+16T=
n.7450+16T=
3g.48570259A>GCA2378505COL7A1c.7440+16T>C (p.=)
c.435+16T>C (p.=)
n.183T>C
n.206T>C
n.4079+16T>C
c.7467+16T>C (p.=)
c.7408-81T>C (p.=)
c.7408-7T>C (p.=)
c.7382-7T>C (p.=)
c.7382-81T>C (p.=)
n.7503+16T>C
n.7477+16T>C
c.7381-81T>C (p.=)
c.7381-7T>C (p.=)
c.7355-7T>C (p.=)
c.7355-81T>C (p.=)
n.7476+16T>C
n.7450+16T>C
dbSNP ExAC gnomAD

Number of alleles fetched