Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.134835127dup | CA916083086 | COL5A1 | c.5293dup (p.Arg1765ProfsTer13) c.551dup n.71-14917dup | ClinVar dbSNP |
9 | g.134835127C>A | CA375460746 | COL5A1 | c.5293C>A (p.Arg1765Ser) c.551C>A n.71-14918G>T | |
9 | g.134835127C= | CA1883393018 | COL5A1 | c.5293C= (p.Arg1765=) c.551C= n.71-14918G= | |
9 | g.134835127C>G | CA375460749 | COL5A1 | c.5293C>G (p.Arg1765Gly) c.551C>G n.71-14918G>C | |
9 | g.134835127C>T | CA5320683 | COL5A1 | c.5293C>T (p.Arg1765Cys) c.551C>T n.71-14918G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.134835128G>A | CA5320684 | COL5A1 | c.5294G>A (p.Arg1765His) c.552G>A n.71-14919C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.134835128G>C | CA375460752 | COL5A1 | c.5294G>C (p.Arg1765Pro) c.552G>C n.71-14919C>G | |
9 | g.134835128G= | CA1883393019 | COL5A1 | c.5294G= (p.Arg1765=) c.552G= n.71-14919C= | |
9 | g.134835128G>T | CA375460754 | COL5A1 | c.5294G>T (p.Arg1765Leu) c.552G>T n.71-14919C>A | |
9 | g.134835128dup | CA2580617145 | COL5A1 | c.5294dup (p.Phe1766LeufsTer12) c.552dup n.71-14919dup | ClinVar |
9 | g.134835131_134835139del | CA2573053136 | COL5A1 | c.5297_5305del (p.Phe1766_Gly1768del) c.555_563del n.71-14927_71-14919del | ClinVar dbSNP |
9 | g.134835129C>A | CA467667225 | COL5A1 | c.5295C>A (p.Arg1765=) c.553C>A n.71-14920G>T | |
9 | g.134835129C= | CA1883393020 | COL5A1 | c.5295C= (p.Arg1765=) c.553C= n.71-14920G= | |
9 | g.134835129C>G | CA467667226 | COL5A1 | c.5295C>G (p.Arg1765=) c.553C>G n.71-14920G>C | |
9 | g.134835129C>T | CA467667227 | COL5A1 | c.5295C>T (p.Arg1765=) c.553C>T n.71-14920G>A | ClinVar dbSNP gnomAD v4 |
9 | g.134835130T>A | CA375460756 | COL5A1 | c.5296T>A (p.Phe1766Ile) c.554T>A n.71-14921A>T | |
9 | g.134835130T>C | CA375460758 | COL5A1 | c.5296T>C (p.Phe1766Leu) c.554T>C n.71-14921A>G | |
9 | g.134835130T>G | CA375460759 | COL5A1 | c.5296T>G (p.Phe1766Val) c.554T>G n.71-14921A>C | |
9 | g.134835131T>A | CA375460762 | COL5A1 | c.5297T>A (p.Phe1766Tyr) c.555T>A n.71-14922A>T | |
9 | g.134835131T>C | CA375460764 | COL5A1 | c.5297T>C (p.Phe1766Ser) c.555T>C n.71-14922A>G | |
9 | g.134835131T>G | CA375460765 | COL5A1 | c.5297T>G (p.Phe1766Cys) c.555T>G n.71-14922A>C | |
9 | g.134835131_134835132delinsTC | CA1883393021 | COL5A1 | c.5297_5298delinsTC (p.Phe1766=) c.555_556delinsTC n.71-14923_71-14922delinsGA | |
9 | g.134835132C>A | CA375460768 | COL5A1 | c.5298C>A (p.Phe1766Leu) c.556C>A n.71-14923G>T | |
9 | g.134835132C= | CA1883393022 | COL5A1 | c.5298C= (p.Phe1766=) c.556C= n.71-14923G= | |
9 | g.134835132C>G | CA375460770 | COL5A1 | c.5298C>G (p.Phe1766Leu) c.556C>G n.71-14923G>C | |
9 | g.134835132C>T | CA467667235 | COL5A1 | c.5298C>T (p.Phe1766=) c.556C>T n.71-14923G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.134835133del | CA658656060 | COL5A1 | c.5299del (p.Leu1767TrpfsTer?) c.557del n.71-14923del | ClinVar dbSNP |
9 | g.134835132_134835149del | CA2695211574 | COL5A1 | c.5298_5315del (p.Phe1766_Glu1772delinsLeu) c.556_573del n.71-14940_71-14923del | |
9 | g.134835133C>A | CA375460772 | COL5A1 | c.5299C>A (p.Leu1767Met) c.557C>A n.71-14924G>T | |
9 | g.134835133C>G | CA375460774 | COL5A1 | c.5299C>G (p.Leu1767Val) c.557C>G n.71-14924G>C | |
9 | g.134835133C>T | CA467667236 | COL5A1 | c.5299C>T (p.Leu1767=) c.557C>T n.71-14924G>A | ClinVar |
9 | g.134835134T>A | CA375460780 | COL5A1 | c.5300T>A (p.Leu1767Gln) c.558T>A n.71-14925A>T | |
9 | g.134835134T>C | CA375460778 | COL5A1 | c.5300T>C (p.Leu1767Pro) c.558T>C n.71-14925A>G | |
9 | g.134835134T>G | CA375460776 | COL5A1 | c.5300T>G (p.Leu1767Arg) c.558T>G n.71-14925A>C | |
9 | g.134835135G>A | CA467667238 | COL5A1 | c.5301G>A (p.Leu1767=) c.559G>A n.71-14926C>T | dbSNP gnomAD v4 |
9 | g.134835135G>C | CA467667240 | COL5A1 | c.5301G>C (p.Leu1767=) c.559G>C n.71-14926C>G | |
9 | g.134835135G= | CA1883393023 | COL5A1 | c.5301G= (p.Leu1767=) c.559G= n.71-14926C= | |
9 | g.134835135G>T | CA467667242 | COL5A1 | c.5301G>T (p.Leu1767=) c.559G>T n.71-14926C>A | |
9 | g.134835136G>A | CA375460782 | COL5A1 | c.5302G>A (p.Gly1768Ser) c.560G>A n.71-14927C>T | |
9 | g.134835136G>C | CA375460784 | COL5A1 | c.5302G>C (p.Gly1768Arg) c.560G>C n.71-14927C>G | |
9 | g.134835136G>T | CA375460786 | COL5A1 | c.5302G>T (p.Gly1768Cys) c.560G>T n.71-14927C>A | |
9 | g.134835137G>A | CA375460787 | COL5A1 | c.5303G>A (p.Gly1768Asp) c.561G>A n.71-14928C>T | ClinVar dbSNP |
9 | g.134835137G>C | CA375460788 | COL5A1 | c.5303G>C (p.Gly1768Ala) c.561G>C n.71-14928C>G | |
9 | g.134835137G= | CA1883393024 | COL5A1 | c.5303G= (p.Gly1768=) c.561G= n.71-14928C= | |
9 | g.134835137G>T | CA375460791 | COL5A1 | c.5303G>T (p.Gly1768Val) c.561G>T n.71-14928C>A | |
9 | g.134835138C>A | CA467667243 | COL5A1 | c.5304C>A (p.Gly1768=) c.562C>A n.71-14929G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.134835138C= | CA1883393025 | COL5A1 | c.5304C= (p.Gly1768=) c.562C= n.71-14929G= | |
9 | g.134835138C>G | CA467667244 | COL5A1 | c.5304C>G (p.Gly1768=) c.562C>G n.71-14929G>C | |
9 | g.134835138C>T | CA467667245 | COL5A1 | c.5304C>T (p.Gly1768=) c.562C>T n.71-14929G>A | dbSNP gnomAD v2 |
9 | g.134835139T>A | CA375460793 | COL5A1 | c.5305T>A (p.Ser1769Thr) c.563T>A n.71-14930A>T |