Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.134835112_134835115delinsTACG | CA1883393009 | COL5A1 | c.5278_5281delinsTACG (p.Tyr1760=) c.536_539delinsTACG n.71-14906_71-14903delinsCGTA | |
9 | g.134835113A= | CA1883393010 | COL5A1 | c.5279A= (p.Tyr1760=) c.537A= n.71-14904T= | |
9 | g.134835113A>C | CA375460695 | COL5A1 | c.5279A>C (p.Tyr1760Ser) c.537A>C n.71-14904T>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134835113A>G | CA375460693 | COL5A1 | c.5279A>G (p.Tyr1760Cys) c.537A>G n.71-14904T>C | |
9 | g.134835113A>T | CA375460691 | COL5A1 | c.5279A>T (p.Tyr1760Phe) c.537A>T n.71-14904T>A | |
9 | g.134835115_134835117del | CA1129890367 | COL5A1 | c.5281_5283del (p.Asp1761del) c.539_541del n.71-14906_71-14904del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134835114C>A | CA375460697 | COL5A1 | c.5280C>A (p.Tyr1760Ter) c.538C>A n.71-14905G>T | |
9 | g.134835114C= | CA1883393011 | COL5A1 | c.5280C= (p.Tyr1760=) c.538C= n.71-14905G= | |
9 | g.134835114C>G | CA375460699 | COL5A1 | c.5280C>G (p.Tyr1760Ter) c.538C>G n.71-14905G>C | |
9 | g.134835114C>T | CA5320680 | COL5A1 | c.5280C>T (p.Tyr1760=) c.538C>T n.71-14905G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.134835115G>A | CA5320681 | COL5A1 | c.5281G>A (p.Asp1761Asn) c.539G>A n.71-14906C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134835115G>C | CA375460702 | COL5A1 | c.5281G>C (p.Asp1761His) c.539G>C n.71-14906C>G | gnomAD v4 |
9 | g.134835115G= | CA1883393012 | COL5A1 | c.5281G= (p.Asp1761=) c.539G= n.71-14906C= | |
9 | g.134835115G>T | CA375460704 | COL5A1 | c.5281G>T (p.Asp1761Tyr) c.539G>T n.71-14906C>A | COSMIC |
9 | g.134835116A>C | CA375460706 | COL5A1 | c.5282A>C (p.Asp1761Ala) c.540A>C n.71-14907T>G | |
9 | g.134835116A>G | CA375460708 | COL5A1 | c.5282A>G (p.Asp1761Gly) c.540A>G n.71-14907T>C | |
9 | g.134835116A>T | CA375460707 | COL5A1 | c.5282A>T (p.Asp1761Val) c.540A>T n.71-14907T>A | gnomAD v4 |
9 | g.134835117C>A | CA375460710 | COL5A1 | c.5283C>A (p.Asp1761Glu) c.541C>A n.71-14908G>T | gnomAD v4 |
9 | g.134835117C>G | CA375460711 | COL5A1 | c.5283C>G (p.Asp1761Glu) c.541C>G n.71-14908G>C | |
9 | g.134835117C>T | CA467667183 | COL5A1 | c.5283C>T (p.Asp1761=) c.541C>T n.71-14908G>A | |
9 | g.134835118A>C | CA375460712 | COL5A1 | c.5284A>C (p.Lys1762Gln) c.542A>C n.71-14909T>G | |
9 | g.134835118A>G | CA375460713 | COL5A1 | c.5284A>G (p.Lys1762Glu) c.542A>G n.71-14909T>C | gnomAD v4 |
9 | g.134835118A>T | CA375460714 | COL5A1 | c.5284A>T (p.Lys1762Ter) c.542A>T n.71-14909T>A | |
9 | g.134835119A= | CA1883393013 | COL5A1 | c.5285A= (p.Lys1762=) c.543A= n.71-14910T= | |
9 | g.134835119A>C | CA375460716 | COL5A1 | c.5285A>C (p.Lys1762Thr) c.543A>C n.71-14910T>G | |
9 | g.134835119A>G | CA5320682 | COL5A1 | c.5285A>G (p.Lys1762Arg) c.543A>G n.71-14910T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.134835119A>T | CA375460718 | COL5A1 | c.5285A>T (p.Lys1762Met) c.543A>T n.71-14910T>A | |
9 | g.134835120G>A | CA467667193 | COL5A1 | c.5286G>A (p.Lys1762=) c.544G>A n.71-14911C>T | |
9 | g.134835120G>C | CA375460720 | COL5A1 | c.5286G>C (p.Lys1762Asn) c.544G>C n.71-14911C>G | |
9 | g.134835120G>T | CA375460722 | COL5A1 | c.5286G>T (p.Lys1762Asn) c.544G>T n.71-14911C>A | |
9 | g.134835121del | CA2695211573 | COL5A1 | c.5287del (p.Ala1763ProfsTer?) c.545del n.71-14911del | |
9 | g.134835121G>A | CA375460724 | COL5A1 | c.5287G>A (p.Ala1763Thr) c.545G>A n.71-14912C>T | dbSNP gnomAD v4 |
9 | g.134835121G>C | CA375460726 | COL5A1 | c.5287G>C (p.Ala1763Pro) c.545G>C n.71-14912C>G | |
9 | g.134835121G= | CA1883393014 | COL5A1 | c.5287G= (p.Ala1763=) c.545G= n.71-14912C= | |
9 | g.134835121G>T | CA375460728 | COL5A1 | c.5287G>T (p.Ala1763Ser) c.545G>T n.71-14912C>A | |
9 | g.134835122C>A | CA375460732 | COL5A1 | c.5288C>A (p.Ala1763Asp) c.546C>A n.71-14913G>T | |
9 | g.134835122C= | CA1883393015 | COL5A1 | c.5288C= (p.Ala1763=) c.546C= n.71-14913G= | |
9 | g.134835122C>G | CA375460734 | COL5A1 | c.5288C>G (p.Ala1763Gly) c.546C>G n.71-14913G>C | |
9 | g.134835122C>T | CA375460730 | COL5A1 | c.5288C>T (p.Ala1763Val) c.546C>T n.71-14913G>A | ClinVar dbSNP gnomAD v2 |
9 | g.134835123C>A | CA467667209 | COL5A1 | c.5289C>A (p.Ala1763=) c.547C>A n.71-14914G>T | |
9 | g.134835123C= | CA1883393016 | COL5A1 | c.5289C= (p.Ala1763=) c.547C= n.71-14914G= | |
9 | g.134835123C>G | CA467667205 | COL5A1 | c.5289C>G (p.Ala1763=) c.547C>G n.71-14914G>C | |
9 | g.134835123C>T | CA467667207 | COL5A1 | c.5289C>T (p.Ala1763=) c.547C>T n.71-14914G>A | dbSNP gnomAD v4 |
9 | g.134835124C>A | CA375460736 | COL5A1 | c.5290C>A (p.Leu1764Ile) c.548C>A n.71-14915G>T | |
9 | g.134835124C>G | CA375460735 | COL5A1 | c.5290C>G (p.Leu1764Val) c.548C>G n.71-14915G>C | |
9 | g.134835124C>T | CA375460738 | COL5A1 | c.5290C>T (p.Leu1764Phe) c.548C>T n.71-14915G>A | |
9 | g.134835125T>A | CA375460740 | COL5A1 | c.5291T>A (p.Leu1764His) c.549T>A n.71-14916A>T | ClinVar dbSNP |
9 | g.134835125T>C | CA375460744 | COL5A1 | c.5291T>C (p.Leu1764Pro) c.549T>C n.71-14916A>G | |
9 | g.134835125T>G | CA375460742 | COL5A1 | c.5291T>G (p.Leu1764Arg) c.549T>G n.71-14916A>C | gnomAD v4 |
9 | g.134835125T= | CA1883393017 | COL5A1 | c.5291T= (p.Leu1764=) c.549T= n.71-14916A= |