UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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= | |
| 9 | g.134835126C>A | CA467667216 | COL5A1 | c.5292C>A (p.Leu1764=) c.550C>A n.71-14917G>T | |
| 9 | g.134835126C>G | CA467667218 | COL5A1 | c.5292C>G (p.Leu1764=) c.550C>G n.71-14917G>C | |
| 9 | g.134835126C>T | CA467667215 | COL5A1 | c.5292C>T (p.Leu1764=) c.550C>T n.71-14917G>A | |
| 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 | |
| 9 | g.134835139T>C | CA375460795 | COL5A1 | c.5305T>C (p.Ser1769Pro) c.563T>C n.71-14930A>G | ClinVar dbSNP |
| 9 | g.134835139T>G | CA375460797 | COL5A1 | c.5305T>G (p.Ser1769Ala) c.563T>G n.71-14930A>C | |
| 9 | g.134835139T= | CA1883393026 | COL5A1 | c.5305T= (p.Ser1769=) c.563T= n.71-14930A= | |
| 9 | g.134835140C>A | CA375460798 | COL5A1 | c.5306C>A (p.Ser1769Tyr) c.564C>A n.71-14931G>T | |
| 9 | g.134835140C= | CA1883393027 | COL5A1 | c.5306C= (p.Ser1769=) c.564C= n.71-14931G= | |
| 9 | g.134835140C>G | CA375460799 | COL5A1 | c.5306C>G (p.Ser1769Cys) c.564C>G n.71-14931G>C | gnomAD v4 |
| 9 | g.134835140C>T | CA201113823 | COL5A1 | c.5306C>T (p.Ser1769Phe) c.564C>T n.71-14931G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835141C>A | CA467667247 | COL5A1 | c.5307C>A (p.Ser1769=) c.565C>A n.71-14932G>T | |
| 9 | g.134835141C= | CA1883393028 | COL5A1 | c.5307C= (p.Ser1769=) c.565C= n.71-14932G= | |
| 9 | g.134835141C>G | CA467667248 | COL5A1 | c.5307C>G (p.Ser1769=) c.565C>G n.71-14932G>C | |
| 9 | g.134835141C>T | CA5320685 | COL5A1 | c.5307C>T (p.Ser1769=) c.565C>T n.71-14932G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835142A>C | CA375460805 | COL5A1 | c.5308A>C (p.Asn1770His) c.566A>C n.71-14933T>G | |
| 9 | g.134835142A>G | CA375460807 | COL5A1 | c.5308A>G (p.Asn1770Asp) c.566A>G n.71-14933T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835142A>T | CA375460803 | COL5A1 | c.5308A>T (p.Asn1770Tyr) c.566A>T n.71-14933T>A | |
| 9 | g.134835143A>C | CA375460809 | COL5A1 | c.5309A>C (p.Asn1770Thr) c.567A>C n.71-14934T>G | |
| 9 | g.134835143A>G | CA375460811 | COL5A1 | c.5309A>G (p.Asn1770Ser) c.567A>G n.71-14934T>C | |
| 9 | g.134835143A>T | CA375460813 | COL5A1 | c.5309A>T (p.Asn1770Ile) c.567A>T n.71-14934T>A | |
| 9 | g.134835144C>A | CA375460815 | COL5A1 | c.5310C>A (p.Asn1770Lys) c.568C>A n.71-14935G>T | |
| 9 | g.134835144C= | CA1883393029 | COL5A1 | c.5310C= (p.Asn1770=) c.568C= n.71-14935G= | |
| 9 | g.134835144C>G | CA375460816 | COL5A1 | c.5310C>G (p.Asn1770Lys) c.568C>G n.71-14935G>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835144C>T | CA5320686 | COL5A1 | c.5310C>T (p.Asn1770=) c.568C>T n.71-14935G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835145G>A | CA16618791 | COL5A1 | c.5311G>A (p.Asp1771Asn) c.569G>A n.71-14936C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835145G>C | CA375460818 | COL5A1 | c.5311G>C (p.Asp1771His) c.569G>C n.71-14936C>G | |
| 9 | g.134835145G= | CA1883393030 | COL5A1 | c.5311G= (p.Asp1771=) c.569G= n.71-14936C= | |
| 9 | g.134835145G>T | CA375460820 | COL5A1 | c.5311G>T (p.Asp1771Tyr) c.569G>T n.71-14936C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835146A>C | CA375460821 | COL5A1 | c.5312A>C (p.Asp1771Ala) c.570A>C n.71-14937T>G | |
| 9 | g.134835146A>G | CA375460822 | COL5A1 | c.5312A>G (p.Asp1771Gly) c.570A>G n.71-14937T>C | |
| 9 | g.134835146A>T | CA375460825 | COL5A1 | c.5312A>T (p.Asp1771Val) c.570A>T n.71-14937T>A | |
| 9 | g.134835147C>A | CA375460828 | COL5A1 | c.5313C>A (p.Asp1771Glu) c.571C>A n.71-14938G>T | |
| 9 | g.134835147C= | CA1883393031 | COL5A1 | c.5313C= (p.Asp1771=) c.571C= n.71-14938G= | |
| 9 | g.134835147C>G | CA5320687 | COL5A1 | c.5313C>G (p.Asp1771Glu) c.571C>G n.71-14938G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835147C>T | CA16605684 | COL5A1 | c.5313C>T (p.Asp1771=) c.571C>T n.71-14938G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835148G>A | CA375460830 | COL5A1 | c.5314G>A (p.Glu1772Lys) c.572G>A n.71-14939C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134835148G>C | CA5320688 | COL5A1 | c.5314G>C (p.Glu1772Gln) c.572G>C n.71-14939C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835148G= | CA1883393032 | COL5A1 | c.5314G= (p.Glu1772=) c.572G= n.71-14939C= | |
| 9 | g.134835148G>T | CA375460832 | COL5A1 | c.5314G>T (p.Glu1772Ter) c.572G>T n.71-14939C>A | |
| 9 | g.134835151_134835153del | CA2692461732 | COL5A1 | c.5317_5319del (p.Glu1773del) c.575_577del n.71-14941_71-14939del | gnomAD v4 |
| 9 | g.134835149A= | CA1883393034 | COL5A1 | c.5315A= (p.Glu1772=) c.573A= n.71-14940T= | |
| 9 | g.134835149A>C | CA375460835 | COL5A1 | c.5315A>C (p.Glu1772Ala) c.573A>C n.71-14940T>G | |
| 9 | g.134835149A>G | CA375460836 | COL5A1 | c.5315A>G (p.Glu1772Gly) c.573A>G n.71-14940T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835149A>T | CA375460838 | COL5A1 | c.5315A>T (p.Glu1772Val) c.573A>T n.71-14940T>A | |
| 9 | g.134835149_134835150delinsAG | CA1883393033 | COL5A1 | c.5315_5316delinsAG (p.Glu1772=) c.573_574delinsAG n.71-14941_71-14940delinsCT | |
| 9 | g.134835150G>A | CA467667251 | COL5A1 | c.5316G>A (p.Glu1772=) c.574G>A n.71-14941C>T | |
| 9 | g.134835150G>C | CA375460840 | COL5A1 | c.5316G>C (p.Glu1772Asp) c.574G>C n.71-14941C>G | gnomAD v4 |
| 9 | g.134835150G>T | CA375460841 | COL5A1 | c.5316G>T (p.Glu1772Asp) c.574G>T n.71-14941C>A | |
| 9 | g.134835151del | CA658797360 | COL5A1 | c.5317del (p.Glu1773ArgfsTer?) c.575del n.71-14941del | ClinVar dbSNP |
| 9 | g.134835151G>A | CA375460843 | COL5A1 | c.5317G>A (p.Glu1773Lys) c.575G>A n.71-14942C>T | COSMIC |
| 9 | g.134835151G>C | CA375460844 | COL5A1 | c.5317G>C (p.Glu1773Gln) c.575G>C n.71-14942C>G | |
| 9 | g.134835151G>T | CA375460846 | COL5A1 | c.5317G>T (p.Glu1773Ter) c.575G>T n.71-14942C>A | |
| 9 | g.134835153_134835154dup | CA2697558182 | COL5A1 | c.5319_5320dup (p.Met1774ArgfsTer?) c.577_578dup n.71-14943_71-14942dup | ClinVar |
| 9 | g.134835152A>C | CA375460850 | COL5A1 | c.5318A>C (p.Glu1773Ala) c.576A>C n.71-14943T>G | |
| 9 | g.134835152A>G | CA375460849 | COL5A1 | c.5318A>G (p.Glu1773Gly) c.576A>G n.71-14943T>C | ClinVar |
| 9 | g.134835152A>T | CA375460847 | COL5A1 | c.5318A>T (p.Glu1773Val) c.576A>T n.71-14943T>A | |
| 9 | g.134835153G>A | CA467667252 | COL5A1 | c.5319G>A (p.Glu1773=) c.577G>A n.71-14944C>T | |
| 9 | g.134835153G>C | CA375460853 | COL5A1 | c.5319G>C (p.Glu1773Asp) c.577G>C n.71-14944C>G | |
| 9 | g.134835153G>T | CA375460854 | COL5A1 | c.5319G>T (p.Glu1773Asp) c.577G>T n.71-14944C>A | |
| 9 | g.134835154A= | CA1883393035 | COL5A1 | c.5320A= (p.Met1774=) c.578A= n.71-14945T= | |
| 9 | g.134835154A>C | CA375460856 | COL5A1 | c.5320A>C (p.Met1774Leu) c.578A>C n.71-14945T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835154A>G | CA375460858 | COL5A1 | c.5320A>G (p.Met1774Val) c.578A>G n.71-14945T>C | ClinVar |
| 9 | g.134835154A>T | CA375460859 | COL5A1 | c.5320A>T (p.Met1774Leu) c.578A>T n.71-14945T>A | |
| 9 | g.134835154_134835155del | CA2692461733 | COL5A1 | c.5320_5321del (p.Met1774ValfsTer3) c.578_579del n.71-14946_71-14945del | gnomAD v4 |
| 9 | g.134835155T>A | CA375460861 | COL5A1 | c.5321T>A (p.Met1774Lys) c.579T>A n.71-14946A>T | |
| 9 | g.134835155T>C | CA375460863 | COL5A1 | c.5321T>C (p.Met1774Thr) c.579T>C n.71-14946A>G | ClinVar dbSNP |
| 9 | g.134835155T>G | CA375460865 | COL5A1 | c.5321T>G (p.Met1774Arg) c.579T>G n.71-14946A>C | |
| 9 | g.134835155T= | CA1883393036 | COL5A1 | c.5321T= (p.Met1774=) c.579T= n.71-14946A= | |
| 9 | g.134835156G>A | CA375460867 | COL5A1 | c.5322G>A (p.Met1774Ile) c.580G>A n.71-14947C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835156G>C | CA375460869 | COL5A1 | c.5322G>C (p.Met1774Ile) c.580G>C n.71-14947C>G | |
| 9 | g.134835156G= | CA1883393037 | COL5A1 | c.5322G= (p.Met1774=) c.580G= n.71-14947C= | |
| 9 | g.134835156G>T | CA375460871 | COL5A1 | c.5322G>T (p.Met1774Ile) c.580G>T n.71-14947C>A | |
| 9 | g.134835157T>A | CA375460873 | COL5A1 | c.5323T>A (p.Ser1775Thr) c.581T>A n.71-14948A>T | |
| 9 | g.134835157T>C | CA375460875 | COL5A1 | c.5323T>C (p.Ser1775Pro) c.581T>C n.71-14948A>G | |
| 9 | g.134835157T>G | CA375460876 | COL5A1 | c.5323T>G (p.Ser1775Ala) c.581T>G n.71-14948A>C | |
| 9 | g.134835158C>A | CA375460879 | COL5A1 | c.5324C>A (p.Ser1775Tyr) c.582C>A n.71-14949G>T | |
| 9 | g.134835158C>G | CA375460877 | COL5A1 | c.5324C>G (p.Ser1775Cys) c.582C>G n.71-14949G>C | |
| 9 | g.134835158C>T | CA375460878 | COL5A1 | c.5324C>T (p.Ser1775Phe) c.582C>T n.71-14949G>A | |
| 9 | g.134835158_134835159insTTAGAGCCCC | CA2692461734 | COL5A1 | c.5324_5325insTTAGAGCCCC (p.Tyr1776Ter) c.582_583insTTAGAGCCCC n.71-14949_71-14948insGGGCTCTAAG | gnomAD v4 |
| 9 | g.134835159C>A | CA467667254 | COL5A1 | c.5325C>A (p.Ser1775=) c.583C>A n.71-14950G>T | |
| 9 | g.134835159C= | CA1883393038 | COL5A1 | c.5325C= (p.Ser1775=) c.583C= n.71-14950G= | |
| 9 | g.134835159C>G | CA467667256 | COL5A1 | c.5325C>G (p.Ser1775=) c.583C>G n.71-14950G>C | |
| 9 | g.134835159C>T | CA467667255 | COL5A1 | c.5325C>T (p.Ser1775=) c.583C>T n.71-14950G>A | ClinVar dbSNP |
| 9 | g.134835160T>A | CA375460880 | COL5A1 | c.5326T>A (p.Tyr1776Asn) c.584T>A n.71-14951A>T | |
| 9 | g.134835160T>C | CA5320689 | COL5A1 | c.5326T>C (p.Tyr1776His) c.584T>C n.71-14951A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835160T>G | CA375460882 | COL5A1 | c.5326T>G (p.Tyr1776Asp) c.584T>G n.71-14951A>C | |
| 9 | g.134835160T= | CA1883393039 | COL5A1 | c.5326T= (p.Tyr1776=) c.584T= n.71-14951A= | |
| 9 | g.134835161A= | CA1883393040 | COL5A1 | c.5327A= (p.Tyr1776=) c.585A= n.71-14952T= | |
| 9 | g.134835161A>C | CA375460884 | COL5A1 | c.5327A>C (p.Tyr1776Ser) c.585A>C n.71-14952T>G | |
| 9 | g.134835161A>G | CA375460886 | COL5A1 | c.5327A>G (p.Tyr1776Cys) c.585A>G n.71-14952T>C | dbSNP gnomAD v4 COSMIC |
| 9 | g.134835161A>T | CA375460888 | COL5A1 | c.5327A>T (p.Tyr1776Phe) c.585A>T n.71-14952T>A | |
| 9 | g.134835162T>A | CA375460890 | COL5A1 | c.5328T>A (p.Tyr1776Ter) c.586T>A n.71-14953A>T | |
| 9 | g.134835162T>C | CA467667257 | COL5A1 | c.5328T>C (p.Tyr1776=) c.586T>C n.71-14953A>G | |
| 9 | g.134835162T>G | CA375460892 | COL5A1 | c.5328T>G (p.Tyr1776Ter) c.586T>G n.71-14953A>C | |
| 9 | g.134835163G>A | CA320656 | COL5A1 | c.5329G>A (p.Asp1777Asn) c.587G>A n.71-14954C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835163G>C | CA375460895 | COL5A1 | c.5329G>C (p.Asp1777His) c.587G>C n.71-14954C>G | |
| 9 | g.134835163G= | CA1883393041 | COL5A1 | c.5329G= (p.Asp1777=) c.587G= n.71-14954C= | |
| 9 | g.134835163G>T | CA375460897 | COL5A1 | c.5329G>T (p.Asp1777Tyr) c.587G>T n.71-14954C>A | |
| 9 | g.134835164A>C | CA375460901 | COL5A1 | c.5330A>C (p.Asp1777Ala) c.588A>C n.71-14955T>G | |
| 9 | g.134835164A>G | CA375460903 | COL5A1 | c.5330A>G (p.Asp1777Gly) c.588A>G n.71-14955T>C | |
| 9 | g.134835164A>T | CA375460899 | COL5A1 | c.5330A>T (p.Asp1777Val) c.588A>T n.71-14955T>A | |
| 9 | g.134835165C>A | CA375460905 | COL5A1 | c.5331C>A (p.Asp1777Glu) c.589C>A n.71-14956G>T | |
| 9 | g.134835165C= | CA1883393042 | COL5A1 | c.5331C= (p.Asp1777=) c.589C= n.71-14956G= | |
| 9 | g.134835165C>G | CA201113851 | COL5A1 | c.5331C>G (p.Asp1777Glu) c.589C>G n.71-14956G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835165C>T | CA5320690 | COL5A1 | c.5331C>T (p.Asp1777=) c.589C>T n.71-14956G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835166A>C | CA375460908 | COL5A1 | c.5332A>C (p.Asn1778His) c.590A>C n.71-14957T>G | |
| 9 | g.134835166A>G | CA375460910 | COL5A1 | c.5332A>G (p.Asn1778Asp) c.590A>G n.71-14957T>C | |
| 9 | g.134835166A>T | CA375460912 | COL5A1 | c.5332A>T (p.Asn1778Tyr) c.590A>T n.71-14957T>A | |
| 9 | g.134835167A= | CA1883393043 | COL5A1 | c.5333A= (p.Asn1778=) c.591A= n.71-14958T= | |
| 9 | g.134835167A>C | CA375460917 | COL5A1 | c.5333A>C (p.Asn1778Thr) c.591A>C n.71-14958T>G | dbSNP |
| 9 | g.134835167A>G | CA375460913 | COL5A1 | c.5333A>G (p.Asn1778Ser) c.591A>G n.71-14958T>C | gnomAD v4 |
| 9 | g.134835167A>T | CA375460915 | COL5A1 | c.5333A>T (p.Asn1778Ile) c.591A>T n.71-14958T>A | |
| 9 | g.134835168C>A | CA375460919 | COL5A1 | c.5334C>A (p.Asn1778Lys) c.592C>A n.71-14959G>T | |
| 9 | g.134835168C>G | CA375460920 | COL5A1 | c.5334C>G (p.Asn1778Lys) c.592C>G n.71-14959G>C | |
| 9 | g.134835168C>T | CA467667265 | COL5A1 | c.5334C>T (p.Asn1778=) c.592C>T n.71-14959G>A | |
| 9 | g.134835169A= | CA1883393044 | COL5A1 | c.5335A= (p.Asn1779=) c.593A= n.71-14960T= | |
| 9 | g.134835169A>C | CA375460921 | COL5A1 | c.5335A>C (p.Asn1779His) c.593A>C n.71-14960T>G | |
| 9 | g.134835169A>G | CA324885 | COL5A1 | c.5335A>G (p.Asn1779Asp) c.593A>G n.71-14960T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835169A>T | CA375460923 | COL5A1 | c.5335A>T (p.Asn1779Tyr) c.593A>T n.71-14960T>A | |
| 9 | g.134835169_134835171delinsAAC | CA1883393045 | COL5A1 | c.5335_5337delinsAAC (p.Asn1779=) c.593_595delinsAAC n.71-14962_71-14960delinsGTT | |
| 9 | g.134835170A>C | CA375460925 | COL5A1 | c.5336A>C (p.Asn1779Thr) c.594A>C n.71-14961T>G | |
| 9 | g.134835170A>G | CA375460929 | COL5A1 | c.5336A>G (p.Asn1779Ser) c.594A>G n.71-14961T>C | |
| 9 | g.134835170A>T | CA375460926 | COL5A1 | c.5336A>T (p.Asn1779Ile) c.594A>T n.71-14961T>A | gnomAD v4 |
| 9 | g.134835170_134835171delinsG | CA915947346 | COL5A1 | c.5336_5337delinsG (p.Asn1779SerfsTer?) c.594_595delinsG n.71-14962_71-14961delinsC | ClinVar dbSNP |
| 9 | g.134835171C>A | CA375460931 | COL5A1 | c.5337C>A (p.Asn1779Lys) c.595C>A n.71-14962G>T | |
| 9 | g.134835171C= | CA1883393046 | COL5A1 | c.5337C= (p.Asn1779=) c.595C= n.71-14962G= | |
| 9 | g.134835171C>G | CA375460933 | COL5A1 | c.5337C>G (p.Asn1779Lys) c.595C>G n.71-14962G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835171C>T | CA467667275 | COL5A1 | c.5337C>T (p.Asn1779=) c.595C>T n.71-14962G>A | |
| 9 | g.134835174dup | CA2499219768 | COL5A1 | c.5340dup (p.Tyr1781LeufsTer?) c.598dup n.71-14962dup | ClinVar dbSNP |
| 9 | g.134835172C>A | CA375460935 | COL5A1 | c.5338C>A (p.Pro1780Thr) c.596C>A n.71-14963G>T | gnomAD v4 |
| 9 | g.134835172C= | CA1883393047 | COL5A1 | c.5338C= (p.Pro1780=) c.596C= n.71-14963G= | |
| 9 | g.134835172C>G | CA375460937 | COL5A1 | c.5338C>G (p.Pro1780Ala) c.596C>G n.71-14963G>C | |
| 9 | g.134835172C>T | CA322948 | COL5A1 | c.5338C>T (p.Pro1780Ser) c.596C>T n.71-14963G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835173C>A | CA5320691 | COL5A1 | c.5339C>A (p.Pro1780His) c.597C>A n.71-14964G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835173C= | CA1883393048 | COL5A1 | c.5339C= (p.Pro1780=) c.597C= n.71-14964G= | |
| 9 | g.134835173C>G | CA375460941 | COL5A1 | c.5339C>G (p.Pro1780Arg) c.597C>G n.71-14964G>C | |
| 9 | g.134835173C>T | CA5320692 | COL5A1 | c.5339C>T (p.Pro1780Leu) c.597C>T n.71-14964G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835174C>A | CA467667283 | COL5A1 | c.5340C>A (p.Pro1780=) c.598C>A n.71-14965G>T | |
| 9 | g.134835174C>G | CA467667285 | COL5A1 | c.5340C>G (p.Pro1780=) c.598C>G n.71-14965G>C | |
| 9 | g.134835174C>T | CA467667287 | COL5A1 | c.5340C>T (p.Pro1780=) c.598C>T n.71-14965G>A | COSMIC |
| 9 | g.134835175T>A | CA375460944 | COL5A1 | c.5341T>A (p.Tyr1781Asn) c.599T>A n.71-14966A>T | |
| 9 | g.134835175T>C | CA5320693 | COL5A1 | c.5341T>C (p.Tyr1781His) c.599T>C n.71-14966A>G | dbSNP ExAC gnomAD v2 |
| 9 | g.134835175T>G | CA375460945 | COL5A1 | c.5341T>G (p.Tyr1781Asp) c.599T>G n.71-14966A>C | |
| 9 | g.134835175T= | CA1883393049 | COL5A1 | c.5341T= (p.Tyr1781=) c.599T= n.71-14966A= | |
| 9 | g.134835176A>C | CA375460948 | COL5A1 | c.5342A>C (p.Tyr1781Ser) c.600A>C n.71-14967T>G | |
| 9 | g.134835176A>G | CA375460947 | COL5A1 | c.5342A>G (p.Tyr1781Cys) c.600A>G n.71-14967T>C | |
| 9 | g.134835176A>T | CA375460946 | COL5A1 | c.5342A>T (p.Tyr1781Phe) c.600A>T n.71-14967T>A | |
| 9 | g.134835176_134835177insTGACAA | CA2573144157 | COL5A1 | c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn) c.600_601insTGACAA n.71-14967_71-14966insTGTCAT | ClinVar dbSNP |
| 9 | g.134835177C>A | CA375460949 | COL5A1 | c.5343C>A (p.Tyr1781Ter) c.601C>A n.71-14968G>T | |
| 9 | g.134835177C>G | CA375460950 | COL5A1 | c.5343C>G (p.Tyr1781Ter) c.601C>G n.71-14968G>C | |
| 9 | g.134835177C>T | CA467667294 | COL5A1 | c.5343C>T (p.Tyr1781=) c.601C>T n.71-14968G>A | gnomAD v4 |
| 9 | g.134835178A>C | CA375460951 | COL5A1 | c.5344A>C (p.Ile1782Leu) c.602A>C n.71-14969T>G | gnomAD v4 |
| 9 | g.134835178A>G | CA375460953 | COL5A1 | c.5344A>G (p.Ile1782Val) c.602A>G n.71-14969T>C | |
| 9 | g.134835178A>T | CA375460952 | COL5A1 | c.5344A>T (p.Ile1782Phe) c.602A>T n.71-14969T>A | |
| 9 | g.134835179T>A | CA375460954 | COL5A1 | c.5345T>A (p.Ile1782Asn) c.603T>A n.71-14970A>T | ClinVar dbSNP |
| 9 | g.134835179T>C | CA375460955 | COL5A1 | c.5345T>C (p.Ile1782Thr) c.603T>C n.71-14970A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835179T>G | CA375460956 | COL5A1 | c.5345T>G (p.Ile1782Ser) c.603T>G n.71-14970A>C | |
| 9 | g.134835179T= | CA1883393050 | COL5A1 | c.5345T= (p.Ile1782=) c.603T= n.71-14970A= | |
| 9 | g.134835180C>A | CA467667304 | COL5A1 | c.5346C>A (p.Ile1782=) c.604C>A n.71-14971G>T | gnomAD v4 |
| 9 | g.134835180C>G | CA375460957 | COL5A1 | c.5346C>G (p.Ile1782Met) c.604C>G n.71-14971G>C | |
| 9 | g.134835180C>T | CA467667307 | COL5A1 | c.5346C>T (p.Ile1782=) c.604C>T n.71-14971G>A | |
| 9 | g.134835181C>A | CA375460958 | COL5A1 | c.5347C>A (p.Arg1783Ser) c.605C>A n.71-14972G>T | |
| 9 | g.134835181C= | CA1883393051 | COL5A1 | c.5347C= (p.Arg1783=) c.605C= n.71-14972G= | |
| 9 | g.134835181C>G | CA375460959 | COL5A1 | c.5347C>G (p.Arg1783Gly) c.605C>G n.71-14972G>C | |
| 9 | g.134835181C>T | CA375460960 | COL5A1 | c.5347C>T (p.Arg1783Cys) c.605C>T n.71-14972G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134835182G>A | CA5320694 | COL5A1 | c.5348G>A (p.Arg1783His) c.606G>A n.71-14973C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.134835182G>C | CA375460961 | COL5A1 | c.5348G>C (p.Arg1783Pro) c.606G>C n.71-14973C>G | ClinVar |
| 9 | g.134835182G= | CA1883393052 | COL5A1 | c.5348G= (p.Arg1783=) c.606G= n.71-14973C= | |
| 9 | g.134835182G>T | CA375460962 | COL5A1 | c.5348G>T (p.Arg1783Leu) c.606G>T n.71-14973C>A | |
| 9 | g.134835183C>A | CA467667317 | COL5A1 | c.5349C>A (p.Arg1783=) c.607C>A n.71-14974G>T | |
| 9 | g.134835183C= | CA1883393053 | COL5A1 | c.5349C= (p.Arg1783=) c.607C= n.71-14974G= | |
| 9 | g.134835183C>G | CA467667315 | COL5A1 | c.5349C>G (p.Arg1783=) c.607C>G n.71-14974G>C | dbSNP gnomAD v2 |
| 9 | g.134835183C>T | CA5320695 | COL5A1 | c.5349C>T (p.Arg1783=) c.607C>T n.71-14974G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835184G>A | CA246946 | COL5A1 | c.5350G>A (p.Ala1784Thr) c.608G>A n.71-14975C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835184G>C | CA375460964 | COL5A1 | c.5350G>C (p.Ala1784Pro) c.608G>C n.71-14975C>G | gnomAD v4 |
| 9 | g.134835184G= | CA1883393054 | COL5A1 | c.5350G= (p.Ala1784=) c.608G= n.71-14975C= | |
| 9 | g.134835184G>T | CA375460963 | COL5A1 | c.5350G>T (p.Ala1784Ser) c.608G>T n.71-14975C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835185C>A | CA375460965 | COL5A1 | c.5351C>A (p.Ala1784Asp) c.609C>A n.71-14976G>T | ClinVar |
| 9 | g.134835185C>G | CA375460966 | COL5A1 | c.5351C>G (p.Ala1784Gly) c.609C>G n.71-14976G>C | |
| 9 | g.134835185C>T | CA375460967 | COL5A1 | c.5351C>T (p.Ala1784Val) c.609C>T n.71-14976G>A | gnomAD v4 |
| 9 | g.134835186C>A | CA467667527 | COL5A1 | c.5352C>A (p.Ala1784=) c.610C>A n.71-14977G>T | dbSNP gnomAD v2 |
| 9 | g.134835186C= | CA1883393055 | COL5A1 | c.5352C= (p.Ala1784=) c.610C= n.71-14977G= | |
| 9 | g.134835186C>G | CA467667524 | COL5A1 | c.5352C>G (p.Ala1784=) c.610C>G n.71-14977G>C | |
| 9 | g.134835186C>T | CA467667526 | COL5A1 | c.5352C>T (p.Ala1784=) c.610C>T n.71-14977G>A | |
| 9 | g.134835187C>A | CA375460968 | COL5A1 | c.5353C>A (p.Leu1785Met) c.611C>A n.71-14978G>T | COSMIC |
| 9 | g.134835187C>G | CA375460969 | COL5A1 | c.5353C>G (p.Leu1785Val) c.611C>G n.71-14978G>C | |
| 9 | g.134835187C>T | CA467667531 | COL5A1 | c.5353C>T (p.Leu1785=) c.611C>T n.71-14978G>A | |
| 9 | g.134835188T>A | CA375460970 | COL5A1 | c.5354T>A (p.Leu1785Gln) c.612T>A n.71-14979A>T | |
| 9 | g.134835188T>C | CA5320696 | COL5A1 | c.5354T>C (p.Leu1785Pro) c.612T>C n.71-14979A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835188T>G | CA375460971 | COL5A1 | c.5354T>G (p.Leu1785Arg) c.612T>G n.71-14979A>C | |
| 9 | g.134835188T= | CA1883393056 | COL5A1 | c.5354T= (p.Leu1785=) c.612T= n.71-14979A= | |
| 9 | g.134835189G>A | CA467667537 | COL5A1 | c.5355G>A (p.Leu1785=) c.613G>A n.71-14980C>T | |
| 9 | g.134835189G>C | CA467667539 | COL5A1 | c.5355G>C (p.Leu1785=) c.613G>C n.71-14980C>G | dbSNP |
| 9 | g.134835189G= | CA1883393057 | COL5A1 | c.5355G= (p.Leu1785=) c.613G= n.71-14980C= | |
| 9 | g.134835189G>T | CA467667536 | COL5A1 | c.5355G>T (p.Leu1785=) c.613G>T n.71-14980C>A | |
| 9 | g.134835190G>A | CA375460972 | COL5A1 | c.5356G>A (p.Val1786Met) c.614G>A n.71-14981C>T | COSMIC |
| 9 | g.134835190G>C | CA375460973 | COL5A1 | c.5356G>C (p.Val1786Leu) c.614G>C n.71-14981C>G | dbSNP gnomAD v4 |
| 9 | g.134835190G= | CA1883393058 | COL5A1 | c.5356G= (p.Val1786=) c.614G= n.71-14981C= | |
| 9 | g.134835190G>T | CA375460974 | COL5A1 | c.5356G>T (p.Val1786Leu) c.614G>T n.71-14981C>A | gnomAD v4 |
| 9 | g.134835191T>A | CA375460976 | COL5A1 | c.5357T>A (p.Val1786Glu) c.615T>A n.71-14982A>T | |
| 9 | g.134835191T>C | CA201113884 | COL5A1 | c.5357T>C (p.Val1786Ala) c.615T>C n.71-14982A>G | dbSNP gnomAD v4 |
| 9 | g.134835191T>G | CA375460975 | COL5A1 | c.5357T>G (p.Val1786Gly) c.615T>G n.71-14982A>C | |
| 9 | g.134835191T= | CA1883393059 | COL5A1 | c.5357T= (p.Val1786=) c.615T= n.71-14982A= | |
| 9 | g.134835191dup | CA322042 | COL5A1 | c.5357dup (p.Asp1787GlyfsTer?) c.615dup n.71-14982dup | ClinVar dbSNP |
| 9 | g.134835192G>A | CA467667550 | COL5A1 | c.5358G>A (p.Val1786=) c.616G>A n.71-14983C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835192G>C | CA467667549 | COL5A1 | c.5358G>C (p.Val1786=) c.616G>C n.71-14983C>G | |
| 9 | g.134835192G= | CA1883393060 | COL5A1 | c.5358G= (p.Val1786=) c.616G= n.71-14983C= | |
| 9 | g.134835192G>T | CA5320697 | COL5A1 | c.5358G>T (p.Val1786=) c.616G>T n.71-14983C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835193G>A | CA375460977 | COL5A1 | c.5359G>A (p.Asp1787Asn) c.617G>A n.71-14984C>T | |
| 9 | g.134835193G>C | CA375460978 | COL5A1 | c.5359G>C (p.Asp1787His) c.617G>C n.71-14984C>G | |
| 9 | g.134835193G>T | CA375460979 | COL5A1 | c.5359G>T (p.Asp1787Tyr) c.617G>T n.71-14984C>A | gnomAD v4 |
| 9 | g.134835194A= | CA1883393061 | COL5A1 | c.5360A= (p.Asp1787=) c.618A= n.71-14985T= | |
| 9 | g.134835194A>C | CA375460980 | COL5A1 | c.5360A>C (p.Asp1787Ala) c.618A>C n.71-14985T>G | |
| 9 | g.134835194A>G | CA201113889 | COL5A1 | c.5360A>G (p.Asp1787Gly) c.618A>G n.71-14985T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835194A>T | CA375460981 | COL5A1 | c.5360A>T (p.Asp1787Val) c.618A>T n.71-14985T>A | |
| 9 | g.134835195C>A | CA375460982 | COL5A1 | c.5361C>A (p.Asp1787Glu) c.619C>A n.71-14986G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835195C= | CA1883393062 | COL5A1 | c.5361C= (p.Asp1787=) c.619C= n.71-14986G= | |
| 9 | g.134835195C>G | CA375460983 | COL5A1 | c.5361C>G (p.Asp1787Glu) c.619C>G n.71-14986G>C | |
| 9 | g.134835195C>T | CA5320698 | COL5A1 | c.5361C>T (p.Asp1787=) c.619C>T n.71-14986G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835196G>A | CA5320699 | COL5A1 | c.5362G>A (p.Gly1788Ser) c.620G>A n.71-14987C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835196G>C | CA375460984 | COL5A1 | c.5362G>C (p.Gly1788Arg) c.620G>C n.71-14987C>G | |
| 9 | g.134835196G= | CA1883393063 | COL5A1 | c.5362G= (p.Gly1788=) c.620G= n.71-14987C= | |
| 9 | g.134835196G>T | CA375460985 | COL5A1 | c.5362G>T (p.Gly1788Cys) c.620G>T n.71-14987C>A | COSMIC |
| 9 | g.134835197G>A | CA375460986 | COL5A1 | c.5363G>A (p.Gly1788Asp) c.621G>A n.71-14988C>T | |
| 9 | g.134835197G>C | CA375460988 | COL5A1 | c.5363G>C (p.Gly1788Ala) c.621G>C n.71-14988C>G | |
| 9 | g.134835197G>T | CA375460987 | COL5A1 | c.5363G>T (p.Gly1788Val) c.621G>T n.71-14988C>A | |
| 9 | g.134835198C>A | CA467667563 | COL5A1 | c.5364C>A (p.Gly1788=) c.622C>A n.71-14989G>T | |
| 9 | g.134835198C>G | CA467667564 | COL5A1 | c.5364C>G (p.Gly1788=) c.622C>G n.71-14989G>C | |
| 9 | g.134835198C>T | CA467667566 | COL5A1 | c.5364C>T (p.Gly1788=) c.622C>T n.71-14989G>A | |
| 9 | g.134835199T>A | CA375460989 | COL5A1 | c.5365T>A (p.Cys1789Ser) c.623T>A n.71-14990A>T | |
| 9 | g.134835199T>C | CA375460990 | COL5A1 | c.5365T>C (p.Cys1789Arg) c.623T>C n.71-14990A>G | ClinVar dbSNP |
| 9 | g.134835199T>G | CA375460991 | COL5A1 | c.5365T>G (p.Cys1789Gly) c.623T>G n.71-14990A>C | |
| 9 | g.134835200G>A | CA375460992 | COL5A1 | c.5366G>A (p.Cys1789Tyr) c.624G>A n.71-14991C>T | gnomAD v4 |
| 9 | g.134835200G>C | CA375460993 | COL5A1 | c.5366G>C (p.Cys1789Ser) c.624G>C n.71-14991C>G | |
| 9 | g.134835200G>T | CA375460994 | COL5A1 | c.5366G>T (p.Cys1789Phe) c.624G>T n.71-14991C>A | |
| 9 | g.134835201T>A | CA375460995 | COL5A1 | c.5367T>A (p.Cys1789Ter) c.625T>A n.71-14992A>T | |
| 9 | g.134835201T>C | CA467667573 | COL5A1 | c.5367T>C (p.Cys1789=) c.625T>C n.71-14992A>G | dbSNP |
| 9 | g.134835201T>G | CA375460996 | COL5A1 | c.5367T>G (p.Cys1789Trp) c.625T>G n.71-14992A>C | |
| 9 | g.134835201T= | CA1883393064 | COL5A1 | c.5367T= (p.Cys1789=) c.625T= n.71-14992A= | |
| 9 | g.134835202G>A | CA375460997 | COL5A1 | c.5368G>A (p.Ala1790Thr) c.626G>A n.71-14993C>T | |
| 9 | g.134835202G>C | CA375460998 | COL5A1 | c.5368G>C (p.Ala1790Pro) c.626G>C n.71-14993C>G | |
| 9 | g.134835202G>T | CA375460999 | COL5A1 | c.5368G>T (p.Ala1790Ser) c.626G>T n.71-14993C>A | |
| 9 | g.134835203C>A | CA5320700 | COL5A1 | c.5369C>A (p.Ala1790Asp) c.627C>A n.71-14994G>T | dbSNP ExAC gnomAD v2 |
| 9 | g.134835203C= | CA1883393065 | COL5A1 | c.5369C= (p.Ala1790=) c.627C= n.71-14994G= | |
| 9 | g.134835203C>G | CA375461000 | COL5A1 | c.5369C>G (p.Ala1790Gly) c.627C>G n.71-14994G>C | |
| 9 | g.134835203C>T | CA5320701 | COL5A1 | c.5369C>T (p.Ala1790Val) c.627C>T n.71-14994G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835204T>A | CA467667579 | COL5A1 | c.5370T>A (p.Ala1790=) c.628T>A n.71-14995A>T | |
| 9 | g.134835204T>C | CA467667581 | COL5A1 | c.5370T>C (p.Ala1790=) c.628T>C n.71-14995A>G | |
| 9 | g.134835204T>G | CA467667583 | COL5A1 | c.5370T>G (p.Ala1790=) c.628T>G n.71-14995A>C | |
| 9 | g.134835204_134835208delinsTGTGA | CA1883393066 | COL5A1 | c.5370_5370+4delinsTGTGA n.71-14999_71-14995delinsTCACA | |
| 9 | g.134835205G>A | CA375461003 | COL5A1 | c.5370+1G>A (n.5370+1G>A) n.71-14996C>T | |
| 9 | g.134835205G>C | CA375461001 | COL5A1 | c.5370+1G>C (n.5370+1G>C) n.71-14996C>G | |
| 9 | g.134835205G>T | CA375461002 | COL5A1 | c.5370+1G>T (n.5370+1G>T) n.71-14996C>A | |
| 9 | g.134835207_134835210del | CA281064 | COL5A1 | c.5370+3_5370+6del (n.5370+3_5370+6del) n.71-14999_71-14996del | ClinVar dbSNP |
| 9 | g.134835206T>A | CA375461004 | COL5A1 | c.5370+2T>A (n.5370+2T>A) n.71-14997A>T | |
| 9 | g.134835206T>C | CA375461005 | COL5A1 | c.5370+2T>C (n.5370+2T>C) n.71-14997A>G | |
| 9 | g.134835206T>G | CA375461006 | COL5A1 | c.5370+2T>G (n.5370+2T>G) n.71-14997A>C | |
| 9 | g.134835206_134835212delinsTGAGTAT | CA1883393067 | COL5A1 | c.5370+2_5370+8delinsTGAGTAT (n.5370+2_5370+8delinsTGAGTAT) n.71-15003_71-14997delinsATACTCA | |
| 9 | g.134835207G>A | CA860889004 | COL5A1 | c.5370+3G>A (n.5370+3G>A) n.71-14998C>T | dbSNP gnomAD v4 |
| 9 | g.134835207G= | CA1883393068 | COL5A1 | c.5370+3G= (n.5370+3G=) n.71-14998C= | |
| 9 | g.134835207_134835212delinsC | CA16618792 | COL5A1 | c.5370+3_5370+8delinsC (n.5370+3_5370+8delinsC) n.71-15003_71-14998delinsG | ClinVar dbSNP |
| 9 | g.134835207_134835208insT | CA2786218721 | COL5A1 | c.5370+3_5370+4insT (n.5370+3_5370+4insT) n.71-14999_71-14998insA | |
| 9 | g.134835208A>T | CA2692461754 | COL5A1 | c.5370+4A>T (n.5370+4A>T) n.71-14999T>A | gnomAD v4 |
| 9 | g.134835208_134835209insTCTGTGTGGTATGTGTGGTGTTTATCGTGTGTGTGGTATGTGTGTGGTGTATGGTGTGTATCTGTGTGATGTGTGGTGTGGTATATGTGGTGTGTATTGT | CA2786218722 | COL5A1 | c.5370+4_5370+5insTCTGTGTGGTATGTGTGGTGTTTATCGTGTGTGTGGTATGTGTGTGGTGTATGGTGTGTATCTGTGTGATGTGTGGTGTGGTATATGTGGTGTGTATTGT (n.5370+4_5370+5insTCTGTGTGGTATGTGTGGTGTTTATCGTGTGTGTGGTATGTGTGTGGTGTATGGTGTGTATCTGTGTGATGTGTGGTGTGGTATATGTGGTGTGTATTGT) n.71-15000_71-14999insACAATACACACCACATATACCACACCACACATCACACAGATACACACCATACACCACACACATACCACACACACGATAAACACCACACATACCACACAGA | |
| 9 | g.134835211A>G | CA2692461755 | COL5A1 | c.5370+7A>G (n.5370+7A>G) n.71-15002T>C | gnomAD v4 |
| 9 | g.134835213C>A | CA1883393070 | COL5A1 | c.5370+9C>A (n.5370+9C>A) n.71-15004G>T | dbSNP |
| 9 | g.134835213C= | CA1883393069 | COL5A1 | c.5370+9C= (n.5370+9C=) n.71-15004G= | |
| 9 | g.134835213C>G | CA1883393071 | COL5A1 | c.5370+9C>G (n.5370+9C>G) n.71-15004G>C | dbSNP gnomAD v4 |
| 9 | g.134835213C>T | CA2692461756 | COL5A1 | c.5370+9C>T (n.5370+9C>T) n.71-15004G>A | gnomAD v4 |
| 9 | g.134835214C= | CA1883393072 | COL5A1 | c.5370+10C= (n.5370+10C=) n.71-15005G= | |
| 9 | g.134835214C>T | CA5320702 | COL5A1 | c.5370+10C>T (n.5370+10C>T) n.71-15005G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |