Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188994173T>GCA2662288854COL3A1c.1096-61T>G (n.1096-61T>G)
c.1195-61T>G (n.1195-61T>G)
c.194-61T>G
 gnomAD v4
2g.188994176G>ACA2577185360COL3A1c.1096-58G>A (n.1096-58G>A)
c.1195-58G>A (n.1195-58G>A)
c.194-58G>A
 gnomAD v4
2g.188994176G>TCA2506437803COL3A1c.1096-58G>T (n.1096-58G>T)
c.1195-58G>T (n.1195-58G>T)
c.194-58G>T
2g.188994177A>GCA2577185361COL3A1c.1096-57A>G (n.1096-57A>G)
c.1195-57A>G (n.1195-57A>G)
c.194-57A>G
2g.188994177A>TCA2662288855COL3A1c.1096-57A>T (n.1096-57A>T)
c.1195-57A>T (n.1195-57A>T)
c.194-57A>T
 gnomAD v4
2g.188994177_188994178delinsATCA1315398398COL3A1c.1096-57_1096-56delinsAT (n.1096-57_1096-56delinsAT)
c.1195-57_1195-56delinsAT (n.1195-57_1195-56delinsAT)
c.194-57_194-56delinsAT
2g.188994178delCA62595144COL3A1c.1096-56del (n.1096-56del)
c.1195-56del (n.1195-56del)
c.194-56del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994178T>CCA1040406345COL3A1c.1096-56T>C (n.1096-56T>C)
c.1195-56T>C (n.1195-56T>C)
c.194-56T>C
 dbSNP gnomAD v3 gnomAD v4
2g.188994178T=CA1315398399COL3A1c.1096-56T= (n.1096-56T=)
c.1195-56T= (n.1195-56T=)
c.194-56T=
2g.188994181T>GCA2577185362COL3A1c.1096-53T>G (n.1096-53T>G)
c.1195-53T>G (n.1195-53T>G)
c.194-53T>G
2g.188994183A>GCA2740351964COL3A1c.1096-51A>G (n.1096-51A>G)
c.1195-51A>G (n.1195-51A>G)
c.194-51A>G
2g.188994185A=CA1315398400COL3A1c.1096-49A= (n.1096-49A=)
c.1195-49A= (n.1195-49A=)
c.194-49A=
2g.188994185A>GCA073950COL3A1c.1096-49A>G (n.1096-49A>G)
c.1195-49A>G (n.1195-49A>G)
c.194-49A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994188delCA2662288856COL3A1c.1096-46del (n.1096-46del)
c.1195-46del (n.1195-46del)
c.194-46del
 gnomAD v4
2g.188994188A=CA1315398401COL3A1c.1096-46A= (n.1096-46A=)
c.1195-46A= (n.1195-46A=)
c.194-46A=
2g.188994188A>GCA1040406346COL3A1c.1096-46A>G (n.1096-46A>G)
c.1195-46A>G (n.1195-46A>G)
c.194-46A>G
 dbSNP gnomAD v3 gnomAD v4
2g.188994189G>ACA2662288857COL3A1c.1096-45G>A (n.1096-45G>A)
c.1195-45G>A (n.1195-45G>A)
c.194-45G>A
 gnomAD v4
2g.188994189G>TCA2662288858COL3A1c.1096-45G>T (n.1096-45G>T)
c.1195-45G>T (n.1195-45G>T)
c.194-45G>T
 gnomAD v4
2g.188994191A=CA1315398402COL3A1c.1096-43A= (n.1096-43A=)
c.1195-43A= (n.1195-43A=)
c.194-43A=
2g.188994191A>GCA62595152COL3A1c.1096-43A>G (n.1096-43A>G)
c.1195-43A>G (n.1195-43A>G)
c.194-43A>G
 dbSNP
2g.188994192C=CA1315398403COL3A1c.1096-42C= (n.1096-42C=)
c.1195-42C= (n.1195-42C=)
c.194-42C=
2g.188994192C>TCA073943COL3A1c.1096-42C>T (n.1096-42C>T)
c.1195-42C>T (n.1195-42C>T)
c.194-42C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994193A>GCA2662288859COL3A1c.1096-41A>G (n.1096-41A>G)
c.1195-41A>G (n.1195-41A>G)
c.194-41A>G
 gnomAD v4
2g.188994194T>CCA2662288860COL3A1c.1096-40T>C (n.1096-40T>C)
c.1195-40T>C (n.1195-40T>C)
c.194-40T>C
 gnomAD v4
2g.188994195T>CCA762194809COL3A1c.1096-39T>C (n.1096-39T>C)
c.1195-39T>C (n.1195-39T>C)
c.194-39T>C
 dbSNP gnomAD v3 gnomAD v4
2g.188994195T=CA1315398404COL3A1c.1096-39T= (n.1096-39T=)
c.1195-39T= (n.1195-39T=)
c.194-39T=
2g.188994195_188994196delinsTCCA1315398405COL3A1c.1096-39_1096-38delinsTC (n.1096-39_1096-38delinsTC)
c.1195-39_1195-38delinsTC (n.1195-39_1195-38delinsTC)
c.194-39_194-38delinsTC
2g.188994196delCA538441245COL3A1c.1096-38del (n.1096-38del)
c.1195-38del (n.1195-38del)
c.194-38del
 dbSNP gnomAD v2
2g.188994196C>TCA2753572105COL3A1c.1096-38C>T (n.1096-38C>T)
c.1195-38C>T (n.1195-38C>T)
c.194-38C>T
2g.188994197A>CCA647380840COL3A1c.1096-37A>C (n.1096-37A>C)
c.1195-37A>C (n.1195-37A>C)
c.194-37A>C
 COSMIC
2g.188994198A=CA1315398406COL3A1c.1096-36A= (n.1096-36A=)
c.1195-36A= (n.1195-36A=)
c.194-36A=
2g.188994198A>CCA538441246COL3A1c.1096-36A>C (n.1096-36A>C)
c.1195-36A>C (n.1195-36A>C)
c.194-36A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994199G>ACA073941COL3A1c.1096-35G>A (n.1096-35G>A)
c.1195-35G>A (n.1195-35G>A)
c.194-35G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994199G>CCA2662288861COL3A1c.1096-35G>C (n.1096-35G>C)
c.1195-35G>C (n.1195-35G>C)
c.194-35G>C
 gnomAD v4
2g.188994199G=CA1315398407COL3A1c.1096-35G= (n.1096-35G=)
c.1195-35G= (n.1195-35G=)
c.194-35G=
2g.188994202C>ACA1315398409COL3A1c.1096-32C>A (n.1096-32C>A)
c.1195-32C>A (n.1195-32C>A)
c.194-32C>A
 dbSNP gnomAD v4
2g.188994202C=CA1315398408COL3A1c.1096-32C= (n.1096-32C=)
c.1195-32C= (n.1195-32C=)
c.194-32C=
2g.188994202C>TCA073938COL3A1c.1096-32C>T (n.1096-32C>T)
c.1195-32C>T (n.1195-32C>T)
c.194-32C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994203G>ACA073932COL3A1c.1096-31G>A (n.1096-31G>A)
c.1195-31G>A (n.1195-31G>A)
c.194-31G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994203G>CCA073934COL3A1c.1096-31G>C (n.1096-31G>C)
c.1195-31G>C (n.1195-31G>C)
c.194-31G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994203G=CA1315398410COL3A1c.1096-31G= (n.1096-31G=)
c.1195-31G= (n.1195-31G=)
c.194-31G=
2g.188994204G>CCA2577185363COL3A1c.1096-30G>C (n.1096-30G>C)
c.1195-30G>C (n.1195-30G>C)
c.194-30G>C
2g.188994204G>TCA2662288862COL3A1c.1096-30G>T (n.1096-30G>T)
c.1195-30G>T (n.1195-30G>T)
c.194-30G>T
 gnomAD v4
2g.188994206T>CCA073928COL3A1c.1096-28T>C (n.1096-28T>C)
c.1195-28T>C (n.1195-28T>C)
c.194-28T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994206T=CA1315398411COL3A1c.1096-28T= (n.1096-28T=)
c.1195-28T= (n.1195-28T=)
c.194-28T=
2g.188994207A>GCA2701311914COL3A1c.1096-27A>G (n.1096-27A>G)
c.1195-27A>G (n.1195-27A>G)
c.194-27A>G
 dbSNP
2g.188994208A>GCA2662288863COL3A1c.1096-26A>G (n.1096-26A>G)
c.1195-26A>G (n.1195-26A>G)
c.194-26A>G
 gnomAD v4
2g.188994210A=CA1315398412COL3A1c.1096-24A= (n.1096-24A=)
c.1195-24A= (n.1195-24A=)
c.194-24A=
2g.188994210A>GCA538441247COL3A1c.1096-24A>G (n.1096-24A>G)
c.1195-24A>G (n.1195-24A>G)
c.194-24A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994211T>CCA538441248COL3A1c.1096-23T>C (n.1096-23T>C)
c.1195-23T>C (n.1195-23T>C)
c.194-23T>C
 dbSNP gnomAD v2 gnomAD v4
2g.188994211T=CA1315398413COL3A1c.1096-23T= (n.1096-23T=)
c.1195-23T= (n.1195-23T=)
c.194-23T=
2g.188994213G>CCA2753572106COL3A1c.1096-21G>C (n.1096-21G>C)
c.1195-21G>C (n.1195-21G>C)
c.194-21G>C
2g.188994214T>CCA2662288864COL3A1c.1096-20T>C (n.1096-20T>C)
c.1195-20T>C (n.1195-20T>C)
c.194-20T>C
 gnomAD v4
2g.188994214T>GCA538441249COL3A1c.1096-20T>G (n.1096-20T>G)
c.1195-20T>G (n.1195-20T>G)
c.194-20T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994214T=CA1315398414COL3A1c.1096-20T= (n.1096-20T=)
c.1195-20T= (n.1195-20T=)
c.194-20T=
2g.188994215G=CA1315398415COL3A1c.1096-19G= (n.1096-19G=)
c.1195-19G= (n.1195-19G=)
c.194-19G=
2g.188994215G>TCA538441250COL3A1c.1096-19G>T (n.1096-19G>T)
c.1195-19G>T (n.1195-19G>T)
c.194-19G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994216T>CCA1315398416COL3A1c.1096-18T>C (n.1096-18T>C)
c.1195-18T>C (n.1195-18T>C)
c.194-18T>C
 dbSNP
2g.188994216T=CA1315398417COL3A1c.1096-18T= (n.1096-18T=)
c.1195-18T= (n.1195-18T=)
c.194-18T=
2g.188994217C>TCA2662288865COL3A1c.1096-17C>T (n.1096-17C>T)
c.1195-17C>T (n.1195-17C>T)
c.194-17C>T
 gnomAD v4
2g.188994218T>ACA2662288866COL3A1c.1096-16T>A (n.1096-16T>A)
c.1195-16T>A (n.1195-16T>A)
c.194-16T>A
 gnomAD v4
2g.188994219_188994220delCA2753572107COL3A1c.1096-15_1096-14del (n.1096-15_1096-14del)
c.1195-15_1195-14del (n.1195-15_1195-14del)
c.194-15_194-14del
2g.188994219T>CCA2662288867COL3A1c.1096-15T>C (n.1096-15T>C)
c.1195-15T>C (n.1195-15T>C)
c.194-15T>C
 gnomAD v4
2g.188994221G>ACA2739278529COL3A1c.1096-13G>A (n.1096-13G>A)
c.1195-13G>A (n.1195-13G>A)
c.194-13G>A
 ClinVar
2g.188994222G>TCA2662288868COL3A1c.1096-12G>T (n.1096-12G>T)
c.1195-12G>T (n.1195-12G>T)
c.194-12G>T
 gnomAD v4
2g.188994224T>CCA2662288869COL3A1c.1096-10T>C (n.1096-10T>C)
c.1195-10T>C (n.1195-10T>C)
c.194-10T>C
 gnomAD v4
2g.188994225T>CCA073956COL3A1c.1096-9T>C (n.1096-9T>C)
c.1195-9T>C (n.1195-9T>C)
c.194-9T>C
 ClinVar dbSNP ExAC gnomAD v2
2g.188994225T=CA1315398418COL3A1c.1096-9T= (n.1096-9T=)
c.1195-9T= (n.1195-9T=)
c.194-9T=
2g.188994228T>CCA913187957COL3A1c.1096-6T>C (n.1096-6T>C)
c.1195-6T>C (n.1195-6T>C)
c.194-6T>C
 ClinVar dbSNP
2g.188994228T=CA1315398419COL3A1c.1096-6T= (n.1096-6T=)
c.1195-6T= (n.1195-6T=)
c.194-6T=
2g.188994229C=CA1315398420COL3A1c.1096-5C= (n.1096-5C=)
c.1195-5C= (n.1195-5C=)
c.194-5C=
2g.188994229C>TCA073952COL3A1c.1096-5C>T (n.1096-5C>T)
c.1195-5C>T (n.1195-5C>T)
c.194-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994230T>CCA2753572108COL3A1c.1096-4T>C (n.1096-4T>C)
c.1195-4T>C (n.1195-4T>C)
c.194-4T>C
2g.188994231T>GCA913187958COL3A1c.1096-3T>G (n.1096-3T>G)
c.1195-3T>G (n.1195-3T>G)
c.194-3T>G
 ClinVar dbSNP
2g.188994231T=CA1315398421COL3A1c.1096-3T= (n.1096-3T=)
c.1195-3T= (n.1195-3T=)
c.194-3T=
2g.188994232A>CCA349851307COL3A1c.1096-2A>C (n.1096-2A>C)
c.1195-2A>C (n.1195-2A>C)
c.194-2A>C
2g.188994232A>GCA349851309COL3A1c.1096-2A>G (n.1096-2A>G)
c.1195-2A>G (n.1195-2A>G)
c.194-2A>G
2g.188994232A>TCA349851311COL3A1c.1096-2A>T (n.1096-2A>T)
c.1195-2A>T (n.1195-2A>T)
c.194-2A>T
2g.188994232_188994233delinsAGCA1315398422COL3A1c.1096-2_1096-1delinsAG (n.1096-2_1096-1delinsAG)
c.1195-2_1195-1delinsAG (n.1195-2_1195-1delinsAG)
c.194-2_194-1delinsAG
2g.188994233G>ACA349851312COL3A1c.1096-1G>A (n.1096-1G>A)
c.1195-1G>A (n.1195-1G>A)
c.194-1G>A
2g.188994233G>CCA349851313COL3A1c.1096-1G>C (n.1096-1G>C)
c.1195-1G>C (n.1195-1G>C)
c.194-1G>C
2g.188994233G>TCA349851315COL3A1c.1096-1G>T (n.1096-1G>T)
c.1195-1G>T (n.1195-1G>T)
c.194-1G>T
2g.188994235delCA1315398423COL3A1c.1097del
c.1196del
c.195del
 dbSNP
2g.188994234G>ACA349851318COL3A1c.1096G>A (p.Gly366Ser)
c.1195G>A (p.Gly399Ser)
c.194G>A
 gnomAD v4 COSMIC
2g.188994234G>CCA349851320COL3A1c.1096G>C (p.Gly366Arg)
c.1195G>C (p.Gly399Arg)
c.194G>C
2g.188994234G>TCA349851321COL3A1c.1096G>T (p.Gly366Cys)
c.1195G>T (p.Gly399Cys)
c.194G>T
2g.188994235G>ACA349851323COL3A1c.1097G>A (p.Gly366Asp)
c.1196G>A (p.Gly399Asp)
c.195G>A
2g.188994235G>CCA16610545COL3A1c.1097G>C (p.Gly366Ala)
c.1196G>C (p.Gly399Ala)
c.195G>C
 ClinVar dbSNP
2g.188994235G=CA1315398424COL3A1c.1097G= (p.Gly366=)
c.1196G= (p.Gly399=)
c.195G=
2g.188994235G>TCA349851324COL3A1c.1097G>T (p.Gly366Val)
c.1196G>T (p.Gly399Val)
c.195G>T
2g.188994236T>ACA430309433COL3A1c.1098T>A (p.Gly366=)
c.1197T>A (p.Gly399=)
c.196T>A
 ClinVar
2g.188994236T>CCA62595215COL3A1c.1098T>C (p.Gly366=)
c.1197T>C (p.Gly399=)
c.196T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994236T>GCA430309434COL3A1c.1098T>G (p.Gly366=)
c.1197T>G (p.Gly399=)
c.196T>G
2g.188994236T=CA1315398425COL3A1c.1098T= (p.Gly366=)
c.1197T= (p.Gly399=)
c.196T=
2g.188994237C>ACA349851326COL3A1c.1099C>A (p.Pro367Thr)
c.1198C>A (p.Pro400Thr)
c.197C>A
 gnomAD v4
2g.188994237C=CA1315398426COL3A1c.1099C= (p.Pro367=)
c.1198C= (p.Pro400=)
c.197C=
2g.188994237C>GCA349851328COL3A1c.1099C>G (p.Pro367Ala)
c.1198C>G (p.Pro400Ala)
c.197C>G
 gnomAD v4
2g.188994237C>TCA349851329COL3A1c.1099C>T (p.Pro367Ser)
c.1198C>T (p.Pro400Ser)
c.197C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994238C>ACA349851331COL3A1c.1100C>A (p.Pro367His)
c.1199C>A (p.Pro400His)
c.198C>A
2g.188994238C>GCA349851333COL3A1c.1100C>G (p.Pro367Arg)
c.1199C>G (p.Pro400Arg)
c.198C>G
2g.188994238C>TCA349851335COL3A1c.1100C>T (p.Pro367Leu)
c.1199C>T (p.Pro400Leu)
c.198C>T
2g.188994239C>ACA430309435COL3A1c.1101C>A (p.Pro367=)
c.1200C>A (p.Pro400=)
c.199C>A
2g.188994239C=CA1315398427COL3A1c.1101C= (p.Pro367=)
c.1200C= (p.Pro400=)
c.199C=
2g.188994239C>GCA430309436COL3A1c.1101C>G (p.Pro367=)
c.1200C>G (p.Pro400=)
c.199C>G
2g.188994239C>TCA073986COL3A1c.1101C>T (p.Pro367=)
c.1200C>T (p.Pro400=)
c.199C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994240G>ACA073990COL3A1c.1102G>A (p.Ala368Thr)
c.1201G>A (p.Ala401Thr)
c.200G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994240G>CCA62595227COL3A1c.1102G>C (p.Ala368Pro)
c.1201G>C (p.Ala401Pro)
c.200G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994240G=CA1315398428COL3A1c.1102G= (p.Ala368=)
c.1201G= (p.Ala401=)
c.200G=
2g.188994240G>TCA349851339COL3A1c.1102G>T (p.Ala368Ser)
c.1201G>T (p.Ala401Ser)
c.200G>T
2g.188994241C>ACA349851345COL3A1c.1103C>A (p.Ala368Asp)
c.1202C>A (p.Ala401Asp)
c.201C>A
2g.188994241C=CA1315398429COL3A1c.1103C= (p.Ala368=)
c.1202C= (p.Ala401=)
c.201C=
2g.188994241C>GCA349851343COL3A1c.1103C>G (p.Ala368Gly)
c.1202C>G (p.Ala401Gly)
c.201C>G
2g.188994241C>TCA349851341COL3A1c.1103C>T (p.Ala368Val)
c.1202C>T (p.Ala401Val)
c.201C>T
 dbSNP gnomAD v4
2g.188994242T>ACA430309439COL3A1c.1104T>A (p.Ala368=)
c.1203T>A (p.Ala401=)
c.202T>A
2g.188994242T>CCA430309437COL3A1c.1104T>C (p.Ala368=)
c.1203T>C (p.Ala401=)
c.202T>C
 dbSNP gnomAD v3 gnomAD v4
2g.188994242T>GCA430309438COL3A1c.1104T>G (p.Ala368=)
c.1203T>G (p.Ala401=)
c.202T>G
2g.188994242T=CA1315398430COL3A1c.1104T= (p.Ala368=)
c.1203T= (p.Ala401=)
c.202T=
2g.188994243G>ACA16617389COL3A1c.1105G>A (p.Gly369Ser)
c.1204G>A (p.Gly402Ser)
c.203G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994243G>CCA349851347COL3A1c.1105G>C (p.Gly369Arg)
c.1204G>C (p.Gly402Arg)
c.203G>C
2g.188994243G=CA1315398431COL3A1c.1105G= (p.Gly369=)
c.1204G= (p.Gly402=)
c.203G=
2g.188994243G>TCA349851348COL3A1c.1105G>T (p.Gly369Cys)
c.1204G>T (p.Gly402Cys)
c.203G>T
2g.188994244G>ACA349851349COL3A1c.1106G>A (p.Gly369Asp)
c.1205G>A (p.Gly402Asp)
c.204G>A
2g.188994244G>CCA349851350COL3A1c.1106G>C (p.Gly369Ala)
c.1205G>C (p.Gly402Ala)
c.204G>C
2g.188994244G>TCA349851351COL3A1c.1106G>T (p.Gly369Val)
c.1205G>T (p.Gly402Val)
c.204G>T
2g.188994244_188994245delinsAACA004126COL3A1c.1106_1107delinsAA (p.Gly369Glu)
c.1205_1206delinsAA (p.Gly402Glu)
c.204_205delinsAA
 ClinVar dbSNP
2g.188994244_188994245delinsGCCA1315398432COL3A1c.1106_1107delinsGC (p.Gly369=)
c.1205_1206delinsGC (p.Gly402=)
c.204_205delinsGC
2g.188994245C>ACA430309440COL3A1c.1107C>A (p.Gly369=)
c.1206C>A (p.Gly402=)
c.205C>A
 dbSNP
2g.188994245C>GCA430309441COL3A1c.1107C>G (p.Gly369=)
c.1206C>G (p.Gly402=)
c.205C>G
2g.188994245C>TCA430309442COL3A1c.1107C>T (p.Gly369=)
c.1206C>T (p.Gly402=)
c.205C>T
2g.188994246A=CA1315398433COL3A1c.1108A= (p.Ile370=)
c.1207A= (p.Ile403=)
c.206A=
2g.188994246A>CCA349851352COL3A1c.1108A>C (p.Ile370Leu)
c.1207A>C (p.Ile403Leu)
c.206A>C
2g.188994246A>GCA349851354COL3A1c.1108A>G (p.Ile370Val)
c.1207A>G (p.Ile403Val)
c.206A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994246A>TCA349851353COL3A1c.1108A>T (p.Ile370Phe)
c.1207A>T (p.Ile403Phe)
c.206A>T
2g.188994247T>ACA349851355COL3A1c.1109T>A (p.Ile370Asn)
c.1208T>A (p.Ile403Asn)
c.207T>A
2g.188994247T>CCA349851356COL3A1c.1109T>C (p.Ile370Thr)
c.1208T>C (p.Ile403Thr)
c.207T>C
 gnomAD v4
2g.188994247T>GCA349851358COL3A1c.1109T>G (p.Ile370Ser)
c.1208T>G (p.Ile403Ser)
c.207T>G
2g.188994248T>ACA430309443COL3A1c.1110T>A (p.Ile370=)
c.1209T>A (p.Ile403=)
c.208T>A
2g.188994248T>CCA430309444COL3A1c.1110T>C (p.Ile370=)
c.1209T>C (p.Ile403=)
c.208T>C
2g.188994248T>GCA349851359COL3A1c.1110T>G (p.Ile370Met)
c.1209T>G (p.Ile403Met)
c.208T>G
2g.188994249C>ACA349851362COL3A1c.1111C>A (p.Pro371Thr)
c.1210C>A (p.Pro404Thr)
c.209C>A
2g.188994249C>GCA349851360COL3A1c.1111C>G (p.Pro371Ala)
c.1210C>G (p.Pro404Ala)
c.209C>G
2g.188994249C>TCA349851361COL3A1c.1111C>T (p.Pro371Ser)
c.1210C>T (p.Pro404Ser)
c.209C>T
 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994250C>ACA349851363COL3A1c.1112C>A (p.Pro371His)
c.1211C>A (p.Pro404His)
c.210C>A
2g.188994250C>GCA349851364COL3A1c.1112C>G (p.Pro371Arg)
c.1211C>G (p.Pro404Arg)
c.210C>G
2g.188994250C>TCA349851365COL3A1c.1112C>T (p.Pro371Leu)
c.1211C>T (p.Pro404Leu)
c.210C>T
2g.188994251T>ACA430309447COL3A1c.1113T>A (p.Pro371=)
c.1212T>A (p.Pro404=)
c.211T>A
2g.188994251T>CCA430309446COL3A1c.1113T>C (p.Pro371=)
c.1212T>C (p.Pro404=)
c.211T>C
2g.188994251T>GCA430309445COL3A1c.1113T>G (p.Pro371=)
c.1212T>G (p.Pro404=)
c.211T>G
2g.188994252G>ACA349851366COL3A1c.1114G>A (p.Gly372Arg)
c.1213G>A (p.Gly405Arg)
c.212G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994252G>CCA349851367COL3A1c.1114G>C (p.Gly372Arg)
c.1213G>C (p.Gly405Arg)
c.212G>C
2g.188994252G=CA1315398434COL3A1c.1114G= (p.Gly372=)
c.1213G= (p.Gly405=)
c.212G=
2g.188994252G>TCA349851368COL3A1c.1114G>T (p.Gly372Ter)
c.1213G>T (p.Gly405Ter)
c.212G>T
2g.188994253G>ACA349851369COL3A1c.1115G>A (p.Gly372Glu)
c.1214G>A (p.Gly405Glu)
c.213G>A
 COSMIC
2g.188994253G>CCA349851371COL3A1c.1115G>C (p.Gly372Ala)
c.1214G>C (p.Gly405Ala)
c.213G>C
 gnomAD v4
2g.188994253G>TCA349851372COL3A1c.1115G>T (p.Gly372Val)
c.1214G>T (p.Gly405Val)
c.213G>T
2g.188994254A>CCA430309448COL3A1c.1116A>C (p.Gly372=)
c.1215A>C (p.Gly405=)
c.214A>C
2g.188994254A>GCA430309449COL3A1c.1116A>G (p.Gly372=)
c.1215A>G (p.Gly405=)
c.214A>G
2g.188994254A>TCA430309450COL3A1c.1116A>T (p.Gly372=)
c.1215A>T (p.Gly405=)
c.214A>T
2g.188994255G>ACA349851373COL3A1c.1117G>A (p.Ala373Thr)
c.1216G>A (p.Ala406Thr)
c.215G>A
 dbSNP gnomAD v3 gnomAD v4
2g.188994255G>CCA349851374COL3A1c.1117G>C (p.Ala373Pro)
c.1216G>C (p.Ala406Pro)
c.215G>C
 ClinVar dbSNP
2g.188994255G=CA1315398435COL3A1c.1117G= (p.Ala373=)
c.1216G= (p.Ala406=)
c.215G=
2g.188994255G>TCA349851376COL3A1c.1117G>T (p.Ala373Ser)
c.1216G>T (p.Ala406Ser)
c.215G>T
 gnomAD v4
2g.188994256C>ACA349851377COL3A1c.1118C>A (p.Ala373Asp)
c.1217C>A (p.Ala406Asp)
c.216C>A
2g.188994256C>GCA349851379COL3A1c.1118C>G (p.Ala373Gly)
c.1217C>G (p.Ala406Gly)
c.216C>G
2g.188994256C>TCA349851378COL3A1c.1118C>T (p.Ala373Val)
c.1217C>T (p.Ala406Val)
c.216C>T
2g.188994257T>ACA430309451COL3A1c.1119T>A (p.Ala373=)
c.1218T>A (p.Ala406=)
c.217T>A
 gnomAD v4
2g.188994257T>CCA430309452COL3A1c.1119T>C (p.Ala373=)
c.1218T>C (p.Ala406=)
c.217T>C
2g.188994257T>GCA430309453COL3A1c.1119T>G (p.Ala373=)
c.1218T>G (p.Ala406=)
c.217T>G
 gnomAD v4
2g.188994258C>ACA349851381COL3A1c.1120C>A (p.Pro374Thr)
c.1219C>A (p.Pro407Thr)
c.218C>A
2g.188994258C>GCA349851382COL3A1c.1120C>G (p.Pro374Ala)
c.1219C>G (p.Pro407Ala)
c.218C>G
2g.188994258C>TCA349851383COL3A1c.1120C>T (p.Pro374Ser)
c.1219C>T (p.Pro407Ser)
c.218C>T
 COSMIC COSMIC
2g.188994259C>ACA349851384COL3A1c.1121C>A (p.Pro374His)
c.1220C>A (p.Pro407His)
c.219C>A
2g.188994259C>GCA349851385COL3A1c.1121C>G (p.Pro374Arg)
c.1220C>G (p.Pro407Arg)
c.219C>G
2g.188994259C>TCA349851386COL3A1c.1121C>T (p.Pro374Leu)
c.1220C>T (p.Pro407Leu)
c.219C>T
 dbSNP
2g.188994260T>ACA430309454COL3A1c.1122T>A (p.Pro374=)
c.1221T>A (p.Pro407=)
c.220T>A
2g.188994260T>CCA430309455COL3A1c.1122T>C (p.Pro374=)
c.1221T>C (p.Pro407=)
c.220T>C
 gnomAD v4
2g.188994260T>GCA430309456COL3A1c.1122T>G (p.Pro374=)
c.1221T>G (p.Pro407=)
c.220T>G
2g.188994261G>ACA16617390COL3A1c.1123G>A (p.Gly375Arg)
c.1222G>A (p.Gly408Arg)
c.221G>A
 ClinVar dbSNP
2g.188994261G>CCA349851388COL3A1c.1123G>C (p.Gly375Arg)
c.1222G>C (p.Gly408Arg)
c.221G>C
2g.188994261G=CA1315398436COL3A1c.1123G= (p.Gly375=)
c.1222G= (p.Gly408=)
c.221G=
2g.188994261G>TCA349851389COL3A1c.1123G>T (p.Gly375Ter)
c.1222G>T (p.Gly408Ter)
c.221G>T
2g.188994262G>ACA004140COL3A1c.1124G>A (p.Gly375Glu)
c.1223G>A (p.Gly408Glu)
c.222G>A
 ClinVar dbSNP
2g.188994262G>CCA349851391COL3A1c.1124G>C (p.Gly375Ala)
c.1223G>C (p.Gly408Ala)
c.222G>C
2g.188994262G=CA1315398437COL3A1c.1124G= (p.Gly375=)
c.1223G= (p.Gly408=)
c.222G=
2g.188994262G>TCA349851392COL3A1c.1124G>T (p.Gly375Val)
c.1223G>T (p.Gly408Val)
c.222G>T
 ClinVar dbSNP
2g.188994263A>CCA430309457COL3A1c.1125A>C (p.Gly375=)
c.1224A>C (p.Gly408=)
c.223A>C
 ClinVar dbSNP
2g.188994263A>GCA430309458COL3A1c.1125A>G (p.Gly375=)
c.1224A>G (p.Gly408=)
c.223A>G
2g.188994263A>TCA430309459COL3A1c.1125A>T (p.Gly375=)
c.1224A>T (p.Gly408=)
c.223A>T
2g.188994264C>ACA349851393COL3A1c.1126C>A (p.Leu376Met)
c.1225C>A (p.Leu409Met)
c.224C>A
 dbSNP gnomAD v3 gnomAD v4
2g.188994264C=CA1315398438COL3A1c.1126C= (p.Leu376=)
c.1225C= (p.Leu409=)
c.224C=
2g.188994264C>GCA62595242COL3A1c.1126C>G (p.Leu376Val)
c.1225C>G (p.Leu409Val)
c.224C>G
 ClinVar dbSNP gnomAD v4
2g.188994264C>TCA430309460COL3A1c.1126C>T (p.Leu376=)
c.1225C>T (p.Leu409=)
c.224C>T
 gnomAD v4
2g.188994265T>ACA349851395COL3A1c.1127T>A (p.Leu376Gln)
c.1226T>A (p.Leu409Gln)
c.225T>A
2g.188994265T>CCA349851396COL3A1c.1127T>C (p.Leu376Pro)
c.1226T>C (p.Leu409Pro)
c.225T>C
2g.188994265T>GCA349851397COL3A1c.1127T>G (p.Leu376Arg)
c.1226T>G (p.Leu409Arg)
c.225T>G
2g.188994266G>ACA430309461COL3A1c.1128G>A (p.Leu376=)
c.1227G>A (p.Leu409=)
c.226G>A
2g.188994266G>CCA430309462COL3A1c.1128G>C (p.Leu376=)
c.1227G>C (p.Leu409=)
c.226G>C
2g.188994266G=CA1315398439COL3A1c.1128G= (p.Leu376=)
c.1227G= (p.Leu409=)
c.226G=
2g.188994266G>TCA430309463COL3A1c.1128G>T (p.Leu376=)
c.1227G>T (p.Leu409=)
c.226G>T
 dbSNP gnomAD v2 gnomAD v4
2g.188994267A=CA1315398440COL3A1c.1129A= (p.Met377=)
c.1228A= (p.Met410=)
c.227A=
2g.188994267A>CCA349851398COL3A1c.1129A>C (p.Met377Leu)
c.1228A>C (p.Met410Leu)
c.227A>C
2g.188994267A>GCA074000COL3A1c.1129A>G (p.Met377Val)
c.1228A>G (p.Met410Val)
c.227A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994267A>TCA349851399COL3A1c.1129A>T (p.Met377Leu)
c.1228A>T (p.Met410Leu)
c.227A>T
2g.188994268T>ACA349851400COL3A1c.1130T>A (p.Met377Lys)
c.1229T>A (p.Met410Lys)
c.228T>A
2g.188994268T>CCA349851401COL3A1c.1130T>C (p.Met377Thr)
c.1229T>C (p.Met410Thr)
c.228T>C
 ClinVar dbSNP COSMIC COSMIC
2g.188994268T>GCA349851403COL3A1c.1130T>G (p.Met377Arg)
c.1229T>G (p.Met410Arg)
c.228T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994268T=CA1315398441COL3A1c.1130T= (p.Met377=)
c.1229T= (p.Met410=)
c.228T=
2g.188994269G>ACA349851404COL3A1c.1131G>A (p.Met377Ile)
c.1230G>A (p.Met410Ile)
c.229G>A
2g.188994269G>CCA349851405COL3A1c.1131G>C (p.Met377Ile)
c.1230G>C (p.Met410Ile)
c.229G>C
2g.188994269G>TCA349851406COL3A1c.1131G>T (p.Met377Ile)
c.1230G>T (p.Met410Ile)
c.229G>T
 ClinVar dbSNP
2g.188994270G>ACA349851408COL3A1c.1132G>A (p.Gly378Arg)
c.1231G>A (p.Gly411Arg)
c.230G>A
2g.188994270G>CCA004145COL3A1c.1132G>C (p.Gly378Arg)
c.1231G>C (p.Gly411Arg)
c.230G>C
 ClinVar dbSNP
2g.188994270G=CA1315398442COL3A1c.1132G= (p.Gly378=)
c.1231G= (p.Gly411=)
c.230G=
2g.188994270G>TCA349851407COL3A1c.1132G>T (p.Gly378Ter)
c.1231G>T (p.Gly411Ter)
c.230G>T
2g.188994271G>ACA10587526COL3A1c.1133G>A (p.Gly378Glu)
c.1232G>A (p.Gly411Glu)
c.231G>A
 ClinVar dbSNP
2g.188994271G>CCA349851411COL3A1c.1133G>C (p.Gly378Ala)
c.1232G>C (p.Gly411Ala)
c.231G>C
2g.188994271G=CA1315398443COL3A1c.1133G= (p.Gly378=)
c.1232G= (p.Gly411=)
c.231G=
2g.188994271G>TCA349851410COL3A1c.1133G>T (p.Gly378Val)
c.1232G>T (p.Gly411Val)
c.231G>T
 gnomAD v4
2g.188994272A=CA1315398444COL3A1c.1134A= (p.Gly378=)
c.1233A= (p.Gly411=)
c.232A=
2g.188994272A>CCA430309465COL3A1c.1134A>C (p.Gly378=)
c.1233A>C (p.Gly411=)
c.232A>C
2g.188994272A>GCA430309464COL3A1c.1134A>G (p.Gly378=)
c.1233A>G (p.Gly411=)
c.232A>G
 dbSNP gnomAD v2
2g.188994272A>TCA074005COL3A1c.1134A>T (p.Gly378=)
c.1233A>T (p.Gly411=)
c.232A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994273G>ACA349851416COL3A1c.1135G>A (p.Ala379Thr)
c.1234G>A (p.Ala412Thr)
c.233G>A
 dbSNP gnomAD v4
2g.188994273G>CCA349851413COL3A1c.1135G>C (p.Ala379Pro)
c.1234G>C (p.Ala412Pro)
c.233G>C
2g.188994273G=CA1315398445COL3A1c.1135G= (p.Ala379=)
c.1234G= (p.Ala412=)
c.233G=
2g.188994273G>TCA004150COL3A1c.1135G>T (p.Ala379Ser)
c.1234G>T (p.Ala412Ser)
c.233G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched