Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.134835153_134835154dupCA2697558182COL5A1c.5319_5320dup (p.Met1774ArgfsTer?)
c.577_578dup
n.71-14943_71-14942dup
 ClinVar
9g.134835154A=CA1883393035COL5A1c.5320A= (p.Met1774=)
c.578A=
n.71-14945T=
9g.134835154A>CCA375460856COL5A1c.5320A>C (p.Met1774Leu)
c.578A>C
n.71-14945T>G
 dbSNP gnomAD v2 gnomAD v4
9g.134835154A>GCA375460858COL5A1c.5320A>G (p.Met1774Val)
c.578A>G
n.71-14945T>C
 ClinVar
9g.134835154A>TCA375460859COL5A1c.5320A>T (p.Met1774Leu)
c.578A>T
n.71-14945T>A
9g.134835154_134835155delCA2692461733COL5A1c.5320_5321del (p.Met1774ValfsTer3)
c.578_579del
n.71-14946_71-14945del
 gnomAD v4
9g.134835155T>ACA375460861COL5A1c.5321T>A (p.Met1774Lys)
c.579T>A
n.71-14946A>T
9g.134835155T>CCA375460863COL5A1c.5321T>C (p.Met1774Thr)
c.579T>C
n.71-14946A>G
 ClinVar dbSNP
9g.134835155T>GCA375460865COL5A1c.5321T>G (p.Met1774Arg)
c.579T>G
n.71-14946A>C
9g.134835155T=CA1883393036COL5A1c.5321T= (p.Met1774=)
c.579T=
n.71-14946A=
9g.134835156G>ACA375460867COL5A1c.5322G>A (p.Met1774Ile)
c.580G>A
n.71-14947C>T
 dbSNP gnomAD v2 gnomAD v4
9g.134835156G>CCA375460869COL5A1c.5322G>C (p.Met1774Ile)
c.580G>C
n.71-14947C>G
9g.134835156G=CA1883393037COL5A1c.5322G= (p.Met1774=)
c.580G=
n.71-14947C=
9g.134835156G>TCA375460871COL5A1c.5322G>T (p.Met1774Ile)
c.580G>T
n.71-14947C>A
9g.134835157T>ACA375460873COL5A1c.5323T>A (p.Ser1775Thr)
c.581T>A
n.71-14948A>T
9g.134835157T>CCA375460875COL5A1c.5323T>C (p.Ser1775Pro)
c.581T>C
n.71-14948A>G
9g.134835157T>GCA375460876COL5A1c.5323T>G (p.Ser1775Ala)
c.581T>G
n.71-14948A>C
9g.134835158C>ACA375460879COL5A1c.5324C>A (p.Ser1775Tyr)
c.582C>A
n.71-14949G>T
9g.134835158C>GCA375460877COL5A1c.5324C>G (p.Ser1775Cys)
c.582C>G
n.71-14949G>C
9g.134835158C>TCA375460878COL5A1c.5324C>T (p.Ser1775Phe)
c.582C>T
n.71-14949G>A
9g.134835158_134835159insTTAGAGCCCCCA2692461734COL5A1c.5324_5325insTTAGAGCCCC (p.Tyr1776Ter)
c.582_583insTTAGAGCCCC
n.71-14949_71-14948insGGGCTCTAAG
 gnomAD v4
9g.134835159C>ACA467667254COL5A1c.5325C>A (p.Ser1775=)
c.583C>A
n.71-14950G>T
9g.134835159C=CA1883393038COL5A1c.5325C= (p.Ser1775=)
c.583C=
n.71-14950G=
9g.134835159C>GCA467667256COL5A1c.5325C>G (p.Ser1775=)
c.583C>G
n.71-14950G>C
9g.134835159C>TCA467667255COL5A1c.5325C>T (p.Ser1775=)
c.583C>T
n.71-14950G>A
 ClinVar dbSNP
9g.134835160T>ACA375460880COL5A1c.5326T>A (p.Tyr1776Asn)
c.584T>A
n.71-14951A>T
9g.134835160T>CCA5320689COL5A1c.5326T>C (p.Tyr1776His)
c.584T>C
n.71-14951A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835160T>GCA375460882COL5A1c.5326T>G (p.Tyr1776Asp)
c.584T>G
n.71-14951A>C
9g.134835160T=CA1883393039COL5A1c.5326T= (p.Tyr1776=)
c.584T=
n.71-14951A=
9g.134835161A=CA1883393040COL5A1c.5327A= (p.Tyr1776=)
c.585A=
n.71-14952T=
9g.134835161A>CCA375460884COL5A1c.5327A>C (p.Tyr1776Ser)
c.585A>C
n.71-14952T>G
9g.134835161A>GCA375460886COL5A1c.5327A>G (p.Tyr1776Cys)
c.585A>G
n.71-14952T>C
 dbSNP gnomAD v4 COSMIC
9g.134835161A>TCA375460888COL5A1c.5327A>T (p.Tyr1776Phe)
c.585A>T
n.71-14952T>A
9g.134835162T>ACA375460890COL5A1c.5328T>A (p.Tyr1776Ter)
c.586T>A
n.71-14953A>T
9g.134835162T>CCA467667257COL5A1c.5328T>C (p.Tyr1776=)
c.586T>C
n.71-14953A>G
9g.134835162T>GCA375460892COL5A1c.5328T>G (p.Tyr1776Ter)
c.586T>G
n.71-14953A>C
9g.134835163G>ACA320656COL5A1c.5329G>A (p.Asp1777Asn)
c.587G>A
n.71-14954C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134835163G>CCA375460895COL5A1c.5329G>C (p.Asp1777His)
c.587G>C
n.71-14954C>G
9g.134835163G=CA1883393041COL5A1c.5329G= (p.Asp1777=)
c.587G=
n.71-14954C=
9g.134835163G>TCA375460897COL5A1c.5329G>T (p.Asp1777Tyr)
c.587G>T
n.71-14954C>A
9g.134835164A>CCA375460901COL5A1c.5330A>C (p.Asp1777Ala)
c.588A>C
n.71-14955T>G
9g.134835164A>GCA375460903COL5A1c.5330A>G (p.Asp1777Gly)
c.588A>G
n.71-14955T>C
9g.134835164A>TCA375460899COL5A1c.5330A>T (p.Asp1777Val)
c.588A>T
n.71-14955T>A
9g.134835165C>ACA375460905COL5A1c.5331C>A (p.Asp1777Glu)
c.589C>A
n.71-14956G>T
9g.134835165C=CA1883393042COL5A1c.5331C= (p.Asp1777=)
c.589C=
n.71-14956G=
9g.134835165C>GCA201113851COL5A1c.5331C>G (p.Asp1777Glu)
c.589C>G
n.71-14956G>C
 dbSNP gnomAD v3 gnomAD v4
9g.134835165C>TCA5320690COL5A1c.5331C>T (p.Asp1777=)
c.589C>T
n.71-14956G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835166A>CCA375460908COL5A1c.5332A>C (p.Asn1778His)
c.590A>C
n.71-14957T>G
9g.134835166A>GCA375460910COL5A1c.5332A>G (p.Asn1778Asp)
c.590A>G
n.71-14957T>C
9g.134835166A>TCA375460912COL5A1c.5332A>T (p.Asn1778Tyr)
c.590A>T
n.71-14957T>A
9g.134835167A=CA1883393043COL5A1c.5333A= (p.Asn1778=)
c.591A=
n.71-14958T=
9g.134835167A>CCA375460917COL5A1c.5333A>C (p.Asn1778Thr)
c.591A>C
n.71-14958T>G
 dbSNP
9g.134835167A>GCA375460913COL5A1c.5333A>G (p.Asn1778Ser)
c.591A>G
n.71-14958T>C
 gnomAD v4
9g.134835167A>TCA375460915COL5A1c.5333A>T (p.Asn1778Ile)
c.591A>T
n.71-14958T>A
9g.134835168C>ACA375460919COL5A1c.5334C>A (p.Asn1778Lys)
c.592C>A
n.71-14959G>T
9g.134835168C>GCA375460920COL5A1c.5334C>G (p.Asn1778Lys)
c.592C>G
n.71-14959G>C
9g.134835168C>TCA467667265COL5A1c.5334C>T (p.Asn1778=)
c.592C>T
n.71-14959G>A
9g.134835169A=CA1883393044COL5A1c.5335A= (p.Asn1779=)
c.593A=
n.71-14960T=
9g.134835169A>CCA375460921COL5A1c.5335A>C (p.Asn1779His)
c.593A>C
n.71-14960T>G
9g.134835169A>GCA324885COL5A1c.5335A>G (p.Asn1779Asp)
c.593A>G
n.71-14960T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835169A>TCA375460923COL5A1c.5335A>T (p.Asn1779Tyr)
c.593A>T
n.71-14960T>A
9g.134835169_134835171delinsAACCA1883393045COL5A1c.5335_5337delinsAAC (p.Asn1779=)
c.593_595delinsAAC
n.71-14962_71-14960delinsGTT
9g.134835170A>CCA375460925COL5A1c.5336A>C (p.Asn1779Thr)
c.594A>C
n.71-14961T>G
9g.134835170A>GCA375460929COL5A1c.5336A>G (p.Asn1779Ser)
c.594A>G
n.71-14961T>C
9g.134835170A>TCA375460926COL5A1c.5336A>T (p.Asn1779Ile)
c.594A>T
n.71-14961T>A
 gnomAD v4
9g.134835170_134835171delinsGCA915947346COL5A1c.5336_5337delinsG (p.Asn1779SerfsTer?)
c.594_595delinsG
n.71-14962_71-14961delinsC
 ClinVar dbSNP
9g.134835171C>ACA375460931COL5A1c.5337C>A (p.Asn1779Lys)
c.595C>A
n.71-14962G>T
9g.134835171C=CA1883393046COL5A1c.5337C= (p.Asn1779=)
c.595C=
n.71-14962G=
9g.134835171C>GCA375460933COL5A1c.5337C>G (p.Asn1779Lys)
c.595C>G
n.71-14962G>C
 dbSNP gnomAD v3 gnomAD v4
9g.134835171C>TCA467667275COL5A1c.5337C>T (p.Asn1779=)
c.595C>T
n.71-14962G>A
9g.134835174dupCA2499219768COL5A1c.5340dup (p.Tyr1781LeufsTer?)
c.598dup
n.71-14962dup
 ClinVar dbSNP
9g.134835172C>ACA375460935COL5A1c.5338C>A (p.Pro1780Thr)
c.596C>A
n.71-14963G>T
 gnomAD v4
9g.134835172C=CA1883393047COL5A1c.5338C= (p.Pro1780=)
c.596C=
n.71-14963G=
9g.134835172C>GCA375460937COL5A1c.5338C>G (p.Pro1780Ala)
c.596C>G
n.71-14963G>C
9g.134835172C>TCA322948COL5A1c.5338C>T (p.Pro1780Ser)
c.596C>T
n.71-14963G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835173C>ACA5320691COL5A1c.5339C>A (p.Pro1780His)
c.597C>A
n.71-14964G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835173C=CA1883393048COL5A1c.5339C= (p.Pro1780=)
c.597C=
n.71-14964G=
9g.134835173C>GCA375460941COL5A1c.5339C>G (p.Pro1780Arg)
c.597C>G
n.71-14964G>C
9g.134835173C>TCA5320692COL5A1c.5339C>T (p.Pro1780Leu)
c.597C>T
n.71-14964G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835174C>ACA467667283COL5A1c.5340C>A (p.Pro1780=)
c.598C>A
n.71-14965G>T
9g.134835174C>GCA467667285COL5A1c.5340C>G (p.Pro1780=)
c.598C>G
n.71-14965G>C
9g.134835174C>TCA467667287COL5A1c.5340C>T (p.Pro1780=)
c.598C>T
n.71-14965G>A
 COSMIC
9g.134835175T>ACA375460944COL5A1c.5341T>A (p.Tyr1781Asn)
c.599T>A
n.71-14966A>T
9g.134835175T>CCA5320693COL5A1c.5341T>C (p.Tyr1781His)
c.599T>C
n.71-14966A>G
 dbSNP ExAC gnomAD v2
9g.134835175T>GCA375460945COL5A1c.5341T>G (p.Tyr1781Asp)
c.599T>G
n.71-14966A>C
9g.134835175T=CA1883393049COL5A1c.5341T= (p.Tyr1781=)
c.599T=
n.71-14966A=
9g.134835176A>CCA375460948COL5A1c.5342A>C (p.Tyr1781Ser)
c.600A>C
n.71-14967T>G
9g.134835176A>GCA375460947COL5A1c.5342A>G (p.Tyr1781Cys)
c.600A>G
n.71-14967T>C
9g.134835176A>TCA375460946COL5A1c.5342A>T (p.Tyr1781Phe)
c.600A>T
n.71-14967T>A
9g.134835176_134835177insTGACAACA2573144157COL5A1c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn)
c.600_601insTGACAA
n.71-14967_71-14966insTGTCAT
 ClinVar dbSNP
9g.134835177C>ACA375460949COL5A1c.5343C>A (p.Tyr1781Ter)
c.601C>A
n.71-14968G>T
9g.134835177C>GCA375460950COL5A1c.5343C>G (p.Tyr1781Ter)
c.601C>G
n.71-14968G>C
9g.134835177C>TCA467667294COL5A1c.5343C>T (p.Tyr1781=)
c.601C>T
n.71-14968G>A
 gnomAD v4
9g.134835178A>CCA375460951COL5A1c.5344A>C (p.Ile1782Leu)
c.602A>C
n.71-14969T>G
 gnomAD v4
9g.134835178A>GCA375460953COL5A1c.5344A>G (p.Ile1782Val)
c.602A>G
n.71-14969T>C
9g.134835178A>TCA375460952COL5A1c.5344A>T (p.Ile1782Phe)
c.602A>T
n.71-14969T>A
9g.134835179T>ACA375460954COL5A1c.5345T>A (p.Ile1782Asn)
c.603T>A
n.71-14970A>T
 ClinVar dbSNP
9g.134835179T>CCA375460955COL5A1c.5345T>C (p.Ile1782Thr)
c.603T>C
n.71-14970A>G
 dbSNP gnomAD v2 gnomAD v4
9g.134835179T>GCA375460956COL5A1c.5345T>G (p.Ile1782Ser)
c.603T>G
n.71-14970A>C
9g.134835179T=CA1883393050COL5A1c.5345T= (p.Ile1782=)
c.603T=
n.71-14970A=
9g.134835180C>ACA467667304COL5A1c.5346C>A (p.Ile1782=)
c.604C>A
n.71-14971G>T
 gnomAD v4
9g.134835180C>GCA375460957COL5A1c.5346C>G (p.Ile1782Met)
c.604C>G
n.71-14971G>C
9g.134835180C>TCA467667307COL5A1c.5346C>T (p.Ile1782=)
c.604C>T
n.71-14971G>A
9g.134835181C>ACA375460958COL5A1c.5347C>A (p.Arg1783Ser)
c.605C>A
n.71-14972G>T
9g.134835181C=CA1883393051COL5A1c.5347C= (p.Arg1783=)
c.605C=
n.71-14972G=
9g.134835181C>GCA375460959COL5A1c.5347C>G (p.Arg1783Gly)
c.605C>G
n.71-14972G>C
9g.134835181C>TCA375460960COL5A1c.5347C>T (p.Arg1783Cys)
c.605C>T
n.71-14972G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134835182G>ACA5320694COL5A1c.5348G>A (p.Arg1783His)
c.606G>A
n.71-14973C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.134835182G>CCA375460961COL5A1c.5348G>C (p.Arg1783Pro)
c.606G>C
n.71-14973C>G
 ClinVar
9g.134835182G=CA1883393052COL5A1c.5348G= (p.Arg1783=)
c.606G=
n.71-14973C=
9g.134835182G>TCA375460962COL5A1c.5348G>T (p.Arg1783Leu)
c.606G>T
n.71-14973C>A
9g.134835183C>ACA467667317COL5A1c.5349C>A (p.Arg1783=)
c.607C>A
n.71-14974G>T
9g.134835183C=CA1883393053COL5A1c.5349C= (p.Arg1783=)
c.607C=
n.71-14974G=
9g.134835183C>GCA467667315COL5A1c.5349C>G (p.Arg1783=)
c.607C>G
n.71-14974G>C
 dbSNP gnomAD v2
9g.134835183C>TCA5320695COL5A1c.5349C>T (p.Arg1783=)
c.607C>T
n.71-14974G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835184G>ACA246946COL5A1c.5350G>A (p.Ala1784Thr)
c.608G>A
n.71-14975C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835184G>CCA375460964COL5A1c.5350G>C (p.Ala1784Pro)
c.608G>C
n.71-14975C>G
 gnomAD v4
9g.134835184G=CA1883393054COL5A1c.5350G= (p.Ala1784=)
c.608G=
n.71-14975C=
9g.134835184G>TCA375460963COL5A1c.5350G>T (p.Ala1784Ser)
c.608G>T
n.71-14975C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134835185C>ACA375460965COL5A1c.5351C>A (p.Ala1784Asp)
c.609C>A
n.71-14976G>T
 ClinVar
9g.134835185C>GCA375460966COL5A1c.5351C>G (p.Ala1784Gly)
c.609C>G
n.71-14976G>C
9g.134835185C>TCA375460967COL5A1c.5351C>T (p.Ala1784Val)
c.609C>T
n.71-14976G>A
 gnomAD v4
9g.134835186C>ACA467667527COL5A1c.5352C>A (p.Ala1784=)
c.610C>A
n.71-14977G>T
 dbSNP gnomAD v2
9g.134835186C=CA1883393055COL5A1c.5352C= (p.Ala1784=)
c.610C=
n.71-14977G=
9g.134835186C>GCA467667524COL5A1c.5352C>G (p.Ala1784=)
c.610C>G
n.71-14977G>C
9g.134835186C>TCA467667526COL5A1c.5352C>T (p.Ala1784=)
c.610C>T
n.71-14977G>A
9g.134835187C>ACA375460968COL5A1c.5353C>A (p.Leu1785Met)
c.611C>A
n.71-14978G>T
 COSMIC
9g.134835187C>GCA375460969COL5A1c.5353C>G (p.Leu1785Val)
c.611C>G
n.71-14978G>C
9g.134835187C>TCA467667531COL5A1c.5353C>T (p.Leu1785=)
c.611C>T
n.71-14978G>A
9g.134835188T>ACA375460970COL5A1c.5354T>A (p.Leu1785Gln)
c.612T>A
n.71-14979A>T
9g.134835188T>CCA5320696COL5A1c.5354T>C (p.Leu1785Pro)
c.612T>C
n.71-14979A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835188T>GCA375460971COL5A1c.5354T>G (p.Leu1785Arg)
c.612T>G
n.71-14979A>C
9g.134835188T=CA1883393056COL5A1c.5354T= (p.Leu1785=)
c.612T=
n.71-14979A=
9g.134835189G>ACA467667537COL5A1c.5355G>A (p.Leu1785=)
c.613G>A
n.71-14980C>T
9g.134835189G>CCA467667539COL5A1c.5355G>C (p.Leu1785=)
c.613G>C
n.71-14980C>G
 dbSNP
9g.134835189G=CA1883393057COL5A1c.5355G= (p.Leu1785=)
c.613G=
n.71-14980C=
9g.134835189G>TCA467667536COL5A1c.5355G>T (p.Leu1785=)
c.613G>T
n.71-14980C>A
9g.134835190G>ACA375460972COL5A1c.5356G>A (p.Val1786Met)
c.614G>A
n.71-14981C>T
 COSMIC
9g.134835190G>CCA375460973COL5A1c.5356G>C (p.Val1786Leu)
c.614G>C
n.71-14981C>G
 dbSNP gnomAD v4
9g.134835190G=CA1883393058COL5A1c.5356G= (p.Val1786=)
c.614G=
n.71-14981C=
9g.134835190G>TCA375460974COL5A1c.5356G>T (p.Val1786Leu)
c.614G>T
n.71-14981C>A
 gnomAD v4
9g.134835191T>ACA375460976COL5A1c.5357T>A (p.Val1786Glu)
c.615T>A
n.71-14982A>T
9g.134835191T>CCA201113884COL5A1c.5357T>C (p.Val1786Ala)
c.615T>C
n.71-14982A>G
 dbSNP gnomAD v4
9g.134835191T>GCA375460975COL5A1c.5357T>G (p.Val1786Gly)
c.615T>G
n.71-14982A>C
9g.134835191T=CA1883393059COL5A1c.5357T= (p.Val1786=)
c.615T=
n.71-14982A=
9g.134835191dupCA322042COL5A1c.5357dup (p.Asp1787GlyfsTer?)
c.615dup
n.71-14982dup
 ClinVar dbSNP
9g.134835192G>ACA467667550COL5A1c.5358G>A (p.Val1786=)
c.616G>A
n.71-14983C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.134835192G>CCA467667549COL5A1c.5358G>C (p.Val1786=)
c.616G>C
n.71-14983C>G
9g.134835192G=CA1883393060COL5A1c.5358G= (p.Val1786=)
c.616G=
n.71-14983C=
9g.134835192G>TCA5320697COL5A1c.5358G>T (p.Val1786=)
c.616G>T
n.71-14983C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835193G>ACA375460977COL5A1c.5359G>A (p.Asp1787Asn)
c.617G>A
n.71-14984C>T
9g.134835193G>CCA375460978COL5A1c.5359G>C (p.Asp1787His)
c.617G>C
n.71-14984C>G
9g.134835193G>TCA375460979COL5A1c.5359G>T (p.Asp1787Tyr)
c.617G>T
n.71-14984C>A
 gnomAD v4
9g.134835194A=CA1883393061COL5A1c.5360A= (p.Asp1787=)
c.618A=
n.71-14985T=
9g.134835194A>CCA375460980COL5A1c.5360A>C (p.Asp1787Ala)
c.618A>C
n.71-14985T>G
9g.134835194A>GCA201113889COL5A1c.5360A>G (p.Asp1787Gly)
c.618A>G
n.71-14985T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.134835194A>TCA375460981COL5A1c.5360A>T (p.Asp1787Val)
c.618A>T
n.71-14985T>A
9g.134835195C>ACA375460982COL5A1c.5361C>A (p.Asp1787Glu)
c.619C>A
n.71-14986G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134835195C=CA1883393062COL5A1c.5361C= (p.Asp1787=)
c.619C=
n.71-14986G=
9g.134835195C>GCA375460983COL5A1c.5361C>G (p.Asp1787Glu)
c.619C>G
n.71-14986G>C
9g.134835195C>TCA5320698COL5A1c.5361C>T (p.Asp1787=)
c.619C>T
n.71-14986G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835196G>ACA5320699COL5A1c.5362G>A (p.Gly1788Ser)
c.620G>A
n.71-14987C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835196G>CCA375460984COL5A1c.5362G>C (p.Gly1788Arg)
c.620G>C
n.71-14987C>G
9g.134835196G=CA1883393063COL5A1c.5362G= (p.Gly1788=)
c.620G=
n.71-14987C=
9g.134835196G>TCA375460985COL5A1c.5362G>T (p.Gly1788Cys)
c.620G>T
n.71-14987C>A
 COSMIC
9g.134835197G>ACA375460986COL5A1c.5363G>A (p.Gly1788Asp)
c.621G>A
n.71-14988C>T
9g.134835197G>CCA375460988COL5A1c.5363G>C (p.Gly1788Ala)
c.621G>C
n.71-14988C>G
9g.134835197G>TCA375460987COL5A1c.5363G>T (p.Gly1788Val)
c.621G>T
n.71-14988C>A
9g.134835198C>ACA467667563COL5A1c.5364C>A (p.Gly1788=)
c.622C>A
n.71-14989G>T
9g.134835198C>GCA467667564COL5A1c.5364C>G (p.Gly1788=)
c.622C>G
n.71-14989G>C
9g.134835198C>TCA467667566COL5A1c.5364C>T (p.Gly1788=)
c.622C>T
n.71-14989G>A
9g.134835199T>ACA375460989COL5A1c.5365T>A (p.Cys1789Ser)
c.623T>A
n.71-14990A>T
9g.134835199T>CCA375460990COL5A1c.5365T>C (p.Cys1789Arg)
c.623T>C
n.71-14990A>G
 ClinVar dbSNP
9g.134835199T>GCA375460991COL5A1c.5365T>G (p.Cys1789Gly)
c.623T>G
n.71-14990A>C
9g.134835200G>ACA375460992COL5A1c.5366G>A (p.Cys1789Tyr)
c.624G>A
n.71-14991C>T
 gnomAD v4
9g.134835200G>CCA375460993COL5A1c.5366G>C (p.Cys1789Ser)
c.624G>C
n.71-14991C>G
9g.134835200G>TCA375460994COL5A1c.5366G>T (p.Cys1789Phe)
c.624G>T
n.71-14991C>A
9g.134835201T>ACA375460995COL5A1c.5367T>A (p.Cys1789Ter)
c.625T>A
n.71-14992A>T
9g.134835201T>CCA467667573COL5A1c.5367T>C (p.Cys1789=)
c.625T>C
n.71-14992A>G
 dbSNP
9g.134835201T>GCA375460996COL5A1c.5367T>G (p.Cys1789Trp)
c.625T>G
n.71-14992A>C
9g.134835201T=CA1883393064COL5A1c.5367T= (p.Cys1789=)
c.625T=
n.71-14992A=
9g.134835202G>ACA375460997COL5A1c.5368G>A (p.Ala1790Thr)
c.626G>A
n.71-14993C>T
9g.134835202G>CCA375460998COL5A1c.5368G>C (p.Ala1790Pro)
c.626G>C
n.71-14993C>G
9g.134835202G>TCA375460999COL5A1c.5368G>T (p.Ala1790Ser)
c.626G>T
n.71-14993C>A
9g.134835203C>ACA5320700COL5A1c.5369C>A (p.Ala1790Asp)
c.627C>A
n.71-14994G>T
 dbSNP ExAC gnomAD v2
9g.134835203C=CA1883393065COL5A1c.5369C= (p.Ala1790=)
c.627C=
n.71-14994G=
9g.134835203C>GCA375461000COL5A1c.5369C>G (p.Ala1790Gly)
c.627C>G
n.71-14994G>C
9g.134835203C>TCA5320701COL5A1c.5369C>T (p.Ala1790Val)
c.627C>T
n.71-14994G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835204T>ACA467667579COL5A1c.5370T>A (p.Ala1790=)
c.628T>A
n.71-14995A>T
9g.134835204T>CCA467667581COL5A1c.5370T>C (p.Ala1790=)
c.628T>C
n.71-14995A>G
9g.134835204T>GCA467667583COL5A1c.5370T>G (p.Ala1790=)
c.628T>G
n.71-14995A>C
9g.134835204_134835208delinsTGTGACA1883393066COL5A1c.5370_5370+4delinsTGTGA
n.71-14999_71-14995delinsTCACA
9g.134835205G>ACA375461003COL5A1c.5370+1G>A (n.5370+1G>A)
n.71-14996C>T
9g.134835205G>CCA375461001COL5A1c.5370+1G>C (n.5370+1G>C)
n.71-14996C>G
9g.134835205G>TCA375461002COL5A1c.5370+1G>T (n.5370+1G>T)
n.71-14996C>A
9g.134835207_134835210delCA281064COL5A1c.5370+3_5370+6del (n.5370+3_5370+6del)
n.71-14999_71-14996del
 ClinVar dbSNP
9g.134835206T>ACA375461004COL5A1c.5370+2T>A (n.5370+2T>A)
n.71-14997A>T
9g.134835206T>CCA375461005COL5A1c.5370+2T>C (n.5370+2T>C)
n.71-14997A>G
9g.134835206T>GCA375461006COL5A1c.5370+2T>G (n.5370+2T>G)
n.71-14997A>C
9g.134835206_134835212delinsTGAGTATCA1883393067COL5A1c.5370+2_5370+8delinsTGAGTAT (n.5370+2_5370+8delinsTGAGTAT)
n.71-15003_71-14997delinsATACTCA
9g.134835207G>ACA860889004COL5A1c.5370+3G>A (n.5370+3G>A)
n.71-14998C>T
 dbSNP gnomAD v4
9g.134835207G=CA1883393068COL5A1c.5370+3G= (n.5370+3G=)
n.71-14998C=
9g.134835207_134835212delinsCCA16618792COL5A1c.5370+3_5370+8delinsC (n.5370+3_5370+8delinsC)
n.71-15003_71-14998delinsG
 ClinVar dbSNP
9g.134835207_134835208insTCA2786218721COL5A1c.5370+3_5370+4insT (n.5370+3_5370+4insT)
n.71-14999_71-14998insA
9g.134835208A>TCA2692461754COL5A1c.5370+4A>T (n.5370+4A>T)
n.71-14999T>A
 gnomAD v4
9g.134835208_134835209insTCTGTGTGGTATGTGTGGTGTTTATCGTGTGTGTGGTATGTGTGTGGTGTATGGTGTGTATCTGTGTGATGTGTGGTGTGGTATATGTGGTGTGTATTGTCA2786218722COL5A1c.5370+4_5370+5insTCTGTGTGGTATGTGTGGTGTTTATCGTGTGTGTGGTATGTGTGTGGTGTATGGTGTGTATCTGTGTGATGTGTGGTGTGGTATATGTGGTGTGTATTGT (n.5370+4_5370+5insTCTGTGTGGTATGTGTGGTGTTTATCGTGTGTGTGGTATGTGTGTGGTGTATGGTGTGTATCTGTGTGATGTGTGGTGTGGTATATGTGGTGTGTATTGT)
n.71-15000_71-14999insACAATACACACCACATATACCACACCACACATCACACAGATACACACCATACACCACACACATACCACACACACGATAAACACCACACATACCACACAGA
9g.134835211A>GCA2692461755COL5A1c.5370+7A>G (n.5370+7A>G)
n.71-15002T>C
 gnomAD v4
9g.134835213C>ACA1883393070COL5A1c.5370+9C>A (n.5370+9C>A)
n.71-15004G>T
 dbSNP
9g.134835213C=CA1883393069COL5A1c.5370+9C= (n.5370+9C=)
n.71-15004G=
9g.134835213C>GCA1883393071COL5A1c.5370+9C>G (n.5370+9C>G)
n.71-15004G>C
 dbSNP gnomAD v4
9g.134835213C>TCA2692461756COL5A1c.5370+9C>T (n.5370+9C>T)
n.71-15004G>A
 gnomAD v4
9g.134835214C=CA1883393072COL5A1c.5370+10C= (n.5370+10C=)
n.71-15005G=
9g.134835214C>TCA5320702COL5A1c.5370+10C>T (n.5370+10C>T)
n.71-15005G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835215C>ACA2692461759COL5A1c.5370+11C>A (n.5370+11C>A)
n.71-15006G>T
 gnomAD v4
9g.134835215C=CA1883393073COL5A1c.5370+11C= (n.5370+11C=)
n.71-15006G=
9g.134835215C>TCA324203COL5A1c.5370+11C>T (n.5370+11C>T)
n.71-15006G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835216G>ACA5320703COL5A1c.5370+12G>A (n.5370+12G>A)
n.71-15007C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835216G=CA1883393074COL5A1c.5370+12G= (n.5370+12G=)
n.71-15007C=
9g.134835217C>ACA2692461761COL5A1c.5370+13C>A (n.5370+13C>A)
n.71-15008G>T
 gnomAD v4
9g.134835217C=CA1883393075COL5A1c.5370+13C= (n.5370+13C=)
n.71-15008G=
9g.134835217C>TCA5320704COL5A1c.5370+13C>T (n.5370+13C>T)
n.71-15008G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835218G>ACA5320705COL5A1c.5370+14G>A (n.5370+14G>A)
n.71-15009C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835218G=CA1883393076COL5A1c.5370+14G= (n.5370+14G=)
n.71-15009C=
9g.134835218G>TCA2692461768COL5A1c.5370+14G>T (n.5370+14G>T)
n.71-15009C>A
 gnomAD v4
9g.134835219C=CA1883393077COL5A1c.5370+15C= (n.5370+15C=)
n.71-15010G=
9g.134835219C>TCA201113932COL5A1c.5370+15C>T (n.5370+15C>T)
n.71-15010G>A
 dbSNP
9g.134835220C=CA1883393078COL5A1c.5370+16C= (n.5370+16C=)
n.71-15011G=
9g.134835220C>TCA5320706COL5A1c.5370+16C>T (n.5370+16C>T)
n.71-15011G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.134835221G>ACA5320707COL5A1c.5370+17G>A (n.5370+17G>A)
n.71-15012C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835221G>CCA2692461774COL5A1c.5370+17G>C (n.5370+17G>C)
n.71-15012C>G
 gnomAD v4
9g.134835221G=CA1883393079COL5A1c.5370+17G= (n.5370+17G=)
n.71-15012C=
9g.134835222C=CA1883393080COL5A1c.5370+18C= (n.5370+18C=)
n.71-15013G=
9g.134835222C>GCA201113942COL5A1c.5370+18C>G (n.5370+18C>G)
n.71-15013G>C
 dbSNP
9g.134835222C>TCA5320708COL5A1c.5370+18C>T (n.5370+18C>T)
n.71-15013G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835223G>ACA5320709COL5A1c.5370+19G>A (n.5370+19G>A)
n.71-15014C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835223G>CCA2720456597COL5A1c.5370+19G>C (n.5370+19G>C)
n.71-15014C>G
 dbSNP
9g.134835223G=CA1883393081COL5A1c.5370+19G= (n.5370+19G=)
n.71-15014C=
9g.134835223G>TCA2579507345COL5A1c.5370+19G>T (n.5370+19G>T)
n.71-15014C>A
 gnomAD v4
9g.134835225C=CA1883393082COL5A1c.5370+21C= (n.5370+21C=)
n.71-15016G=
9g.134835225C>GCA5320710COL5A1c.5370+21C>G (n.5370+21C>G)
n.71-15016G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835225C>TCA591116415COL5A1c.5370+21C>T (n.5370+21C>T)
n.71-15016G>A
 dbSNP gnomAD v2
9g.134835226C>ACA591116417COL5A1c.5370+22C>A (n.5370+22C>A)
n.71-15017G>T
 dbSNP gnomAD v2 gnomAD v4
9g.134835226C=CA1883393083COL5A1c.5370+22C= (n.5370+22C=)
n.71-15017G=
9g.134835226C>GCA860889030COL5A1c.5370+22C>G (n.5370+22C>G)
n.71-15017G>C
 dbSNP
9g.134835226C>TCA1883393084COL5A1c.5370+22C>T (n.5370+22C>T)
n.71-15017G>A
 dbSNP gnomAD v4
9g.134835227A=CA1883393085COL5A1c.5370+23A= (n.5370+23A=)
n.71-15018T=
9g.134835227A>CCA5320712COL5A1c.5370+23A>C (n.5370+23A>C)
n.71-15018T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835227A>GCA5320711COL5A1c.5370+23A>G (n.5370+23A>G)
n.71-15018T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835227A>TCA2720460856COL5A1c.5370+23A>T (n.5370+23A>T)
n.71-15018T>A
 dbSNP
9g.134835228G>ACA5320713COL5A1c.5370+24G>A (n.5370+24G>A)
n.71-15019C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835228G=CA1883393086COL5A1c.5370+24G= (n.5370+24G=)
n.71-15019C=
9g.134835228G>TCA2692461807COL5A1c.5370+24G>T (n.5370+24G>T)
n.71-15019C>A
 gnomAD v4
9g.134835229C>ACA2692461810COL5A1c.5370+25C>A (n.5370+25C>A)
n.71-15020G>T
 gnomAD v4
9g.134835229C>TCA2692461811COL5A1c.5370+25C>T (n.5370+25C>T)
n.71-15020G>A
 gnomAD v4
9g.134835230_134835231insTCA2692461813COL5A1c.5370+26_5370+27insT (n.5370+26_5370+27insT)
n.71-15022_71-15021insA
 gnomAD v4
9g.134835231C>ACA1883393087COL5A1c.5370+27C>A (n.5370+27C>A)
n.71-15022G>T
 dbSNP gnomAD v4
9g.134835231C=CA1883393088COL5A1c.5370+27C= (n.5370+27C=)
n.71-15022G=
9g.134835231C>TCA5320714COL5A1c.5370+27C>T (n.5370+27C>T)
n.71-15022G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835232C>ACA860889037COL5A1c.5370+28C>A (n.5370+28C>A)
n.71-15023G>T
 dbSNP gnomAD v3 gnomAD v4
9g.134835232C=CA1883393089COL5A1c.5370+28C= (n.5370+28C=)
n.71-15023G=
9g.134835232C>TCA2692461825COL5A1c.5370+28C>T (n.5370+28C>T)
n.71-15023G>A
 gnomAD v4
9g.134835233C>ACA2692461828COL5A1c.5370+29C>A (n.5370+29C>A)
n.71-15024G>T
 gnomAD v4
9g.134835233C>TCA2692461829COL5A1c.5370+29C>T (n.5370+29C>T)
n.71-15024G>A
 gnomAD v4
9g.134835234C=CA1883393090COL5A1c.5370+30C= (n.5370+30C=)
n.71-15025G=
9g.134835234C>TCA591116423COL5A1c.5370+30C>T (n.5370+30C>T)
n.71-15025G>A
 dbSNP gnomAD v2 gnomAD v4
9g.134835235delCA2692461832COL5A1c.5370+31del (n.5370+31del)
n.71-15026del
 gnomAD v4
9g.134835235T>GCA201113961COL5A1c.5370+31T>G (n.5370+31T>G)
n.71-15026A>C
 dbSNP gnomAD v4
9g.134835235T=CA1883393091COL5A1c.5370+31T= (n.5370+31T=)
n.71-15026A=
9g.134835236G>ACA1129890525COL5A1c.5370+32G>A (n.5370+32G>A)
n.71-15027C>T
 dbSNP gnomAD v3 gnomAD v4
9g.134835236G=CA1883393092COL5A1c.5370+32G= (n.5370+32G=)
n.71-15027C=
9g.134835236G>TCA2692461837COL5A1c.5370+32G>T (n.5370+32G>T)
n.71-15027C>A
 gnomAD v4
9g.134835237C>ACA2692461839COL5A1c.5370+33C>A (n.5370+33C>A)
n.71-15028G>T
 gnomAD v4
9g.134835237C=CA1883393093COL5A1c.5370+33C= (n.5370+33C=)
n.71-15028G=
9g.134835237C>TCA5320715COL5A1c.5370+33C>T (n.5370+33C>T)
n.71-15028G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.134835239C>ACA2692461843COL5A1c.5370+35C>A (n.5370+35C>A)
n.71-15030G>T
 gnomAD v4
9g.134835239C=CA1883393094COL5A1c.5370+35C= (n.5370+35C=)
n.71-15030G=
9g.134835239C>TCA591116424COL5A1c.5370+35C>T (n.5370+35C>T)
n.71-15030G>A
 dbSNP gnomAD v2 gnomAD v4
9g.134835240A=CA1883393095COL5A1c.5370+36A= (n.5370+36A=)
n.71-15031T=
9g.134835240A>GCA5320716COL5A1c.5370+36A>G (n.5370+36A>G)
n.71-15031T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835240A>TCA1883393096COL5A1c.5370+36A>T (n.5370+36A>T)
n.71-15031T>A
 dbSNP gnomAD v4
9g.134835241C>ACA201113970COL5A1c.5370+37C>A (n.5370+37C>A)
n.71-15032G>T
 dbSNP gnomAD v4
9g.134835241C=CA1883393097COL5A1c.5370+37C= (n.5370+37C=)
n.71-15032G=
9g.134835241C>TCA201113974COL5A1c.5370+37C>T (n.5370+37C>T)
n.71-15032G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134835242G>ACA5320717COL5A1c.5370+38G>A (n.5370+38G>A)
n.71-15033C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835242G=CA1883393098COL5A1c.5370+38G= (n.5370+38G=)
n.71-15033C=
9g.134835242G>TCA2692461857COL5A1c.5370+38G>T (n.5370+38G>T)
n.71-15033C>A
 gnomAD v4
9g.134835244C>ACA2579507346COL5A1c.5370+40C>A (n.5370+40C>A)
n.71-15035G>T
 gnomAD v4
9g.134835244C>TCA2692461861COL5A1c.5370+40C>T (n.5370+40C>T)
n.71-15035G>A
 gnomAD v4
9g.134835246C>ACA2692461863COL5A1c.5370+42C>A (n.5370+42C>A)
n.71-15037G>T
 gnomAD v4
9g.134835247C=CA1883393099COL5A1c.5370+43C= (n.5370+43C=)
n.71-15038G=
9g.134835247C>TCA5320718COL5A1c.5370+43C>T (n.5370+43C>T)
n.71-15038G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835248G>ACA5320719COL5A1c.5370+44G>A (n.5370+44G>A)
n.71-15039C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835248G>CCA591116428COL5A1c.5370+44G>C (n.5370+44G>C)
n.71-15039C>G
 dbSNP gnomAD v2
9g.134835248G=CA1883393100COL5A1c.5370+44G= (n.5370+44G=)
n.71-15039C=
9g.134835248G>TCA2692461866COL5A1c.5370+44G>T (n.5370+44G>T)
n.71-15039C>A
 gnomAD v4
9g.134835250G>TCA2692461869COL5A1c.5370+46G>T (n.5370+46G>T)
n.71-15041C>A
 gnomAD v4
9g.134835251G>TCA2692461871COL5A1c.5370+47G>T (n.5370+47G>T)
n.71-15042C>A
 gnomAD v4
9g.134835252G>ACA860889062COL5A1c.5370+48G>A (n.5370+48G>A)
n.71-15043C>T
 dbSNP
9g.134835252G=CA1883393101COL5A1c.5370+48G= (n.5370+48G=)
n.71-15043C=
9g.134835252G>TCA2692461872COL5A1c.5370+48G>T (n.5370+48G>T)
n.71-15043C>A
 gnomAD v4
9g.134835253G>ACA591116433COL5A1c.5370+49G>A (n.5370+49G>A)
n.71-15044C>T
 dbSNP gnomAD v2
9g.134835253G=CA1883393102COL5A1c.5370+49G= (n.5370+49G=)
n.71-15044C=
9g.134835253G>TCA860889068COL5A1c.5370+49G>T (n.5370+49G>T)
n.71-15044C>A
 dbSNP gnomAD v3 gnomAD v4
9g.134835254C>ACA2579507347COL5A1c.5370+50C>A (n.5370+50C>A)
n.71-15045G>T
9g.134835254C=CA1883393103COL5A1c.5370+50C= (n.5370+50C=)
n.71-15045G=
9g.134835254C>GCA1883393104COL5A1c.5370+50C>G (n.5370+50C>G)
n.71-15045G>C
 dbSNP gnomAD v4
9g.134835254C>TCA2692461879COL5A1c.5370+50C>T (n.5370+50C>T)
n.71-15045G>A
 gnomAD v4

Number of alleles fetched