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.134842169T>A | CA375461732 | COL5A1 | c.5383T>A (p.Tyr1795Asn) n.71-21960A>T | |
| 9 | g.134842169T>C | CA5320737 | COL5A1 | c.5383T>C (p.Tyr1795His) n.71-21960A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134842169T>G | CA375461733 | COL5A1 | c.5383T>G (p.Tyr1795Asp) n.71-21960A>C | |
| 9 | g.134842169T= | CA1883396598 | COL5A1 | c.5383T= (p.Tyr1795=) n.71-21960A= | |
| 9 | g.134842170A>C | CA375461734 | COL5A1 | c.5384A>C (p.Tyr1795Ser) n.71-21961T>G | |
| 9 | g.134842170A>G | CA375461735 | COL5A1 | c.5384A>G (p.Tyr1795Cys) n.71-21961T>C | gnomAD v4 |
| 9 | g.134842170A>T | CA375461736 | COL5A1 | c.5384A>T (p.Tyr1795Phe) n.71-21961T>A | |
| 9 | g.134842171C>A | CA375461738 | COL5A1 | c.5385C>A (p.Tyr1795Ter) n.71-21962G>T | |
| 9 | g.134842171C>G | CA375461740 | COL5A1 | c.5385C>G (p.Tyr1795Ter) n.71-21962G>C | |
| 9 | g.134842171C>T | CA467668203 | COL5A1 | c.5385C>T (p.Tyr1795=) n.71-21962G>A | gnomAD v4 |
| 9 | g.134842172C>A | CA375461743 | COL5A1 | c.5386C>A (p.Gln1796Lys) n.71-21963G>T | |
| 9 | g.134842172C= | CA1883396599 | COL5A1 | c.5386C= (p.Gln1796=) n.71-21963G= | |
| 9 | g.134842172C>G | CA375461744 | COL5A1 | c.5386C>G (p.Gln1796Glu) n.71-21963G>C | |
| 9 | g.134842172C>T | CA375461742 | COL5A1 | c.5386C>T (p.Gln1796Ter) n.71-21963G>A | ClinVar dbSNP |
| 9 | g.134842173A>C | CA375461747 | COL5A1 | c.5387A>C (p.Gln1796Pro) n.71-21964T>G | |
| 9 | g.134842173A>G | CA375461749 | COL5A1 | c.5387A>G (p.Gln1796Arg) n.71-21964T>C | |
| 9 | g.134842173A>T | CA375461750 | COL5A1 | c.5387A>T (p.Gln1796Leu) n.71-21964T>A | |
| 9 | g.134842174G>A | CA467668205 | COL5A1 | c.5388G>A (p.Gln1796=) n.71-21965C>T | gnomAD v4 |
| 9 | g.134842174G>C | CA5320738 | COL5A1 | c.5388G>C (p.Gln1796His) n.71-21965C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842174G= | CA1883396600 | COL5A1 | c.5388G= (p.Gln1796=) n.71-21965C= | |
| 9 | g.134842174G>T | CA375461752 | COL5A1 | c.5388G>T (p.Gln1796His) n.71-21965C>A | gnomAD v4 |
| 9 | g.134842175A= | CA1883396601 | COL5A1 | c.5389A= (p.Lys1797=) n.71-21966T= | |
| 9 | g.134842175A>C | CA5320739 | COL5A1 | c.5389A>C (p.Lys1797Gln) n.71-21966T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842175A>G | CA375461755 | COL5A1 | c.5389A>G (p.Lys1797Glu) n.71-21966T>C | |
| 9 | g.134842175A>T | CA375461756 | COL5A1 | c.5389A>T (p.Lys1797Ter) n.71-21966T>A | |
| 9 | g.134842176A= | CA1883396602 | COL5A1 | c.5390A= (p.Lys1797=) n.71-21967T= | |
| 9 | g.134842176A>C | CA375461758 | COL5A1 | c.5390A>C (p.Lys1797Thr) n.71-21967T>G | |
| 9 | g.134842176A>G | CA5320740 | COL5A1 | c.5390A>G (p.Lys1797Arg) n.71-21967T>C | ClinVar dbSNP ExAC gnomAD v4 |
| 9 | g.134842176A>T | CA375461760 | COL5A1 | c.5390A>T (p.Lys1797Met) n.71-21967T>A | |
| 9 | g.134842177G>A | CA467668206 | COL5A1 | c.5391G>A (p.Lys1797=) n.71-21968C>T | |
| 9 | g.134842177G>C | CA375461762 | COL5A1 | c.5391G>C (p.Lys1797Asn) n.71-21968C>G | ClinVar dbSNP |
| 9 | g.134842177G>T | CA375461763 | COL5A1 | c.5391G>T (p.Lys1797Asn) n.71-21968C>A | |
| 9 | g.134842178A>C | CA375461767 | COL5A1 | c.5392A>C (p.Thr1798Pro) n.71-21969T>G | |
| 9 | g.134842178A>G | CA375461766 | COL5A1 | c.5392A>G (p.Thr1798Ala) n.71-21969T>C | |
| 9 | g.134842178A>T | CA375461765 | COL5A1 | c.5392A>T (p.Thr1798Ser) n.71-21969T>A | gnomAD v4 |
| 9 | g.134842179C>A | CA375461769 | COL5A1 | c.5393C>A (p.Thr1798Lys) n.71-21970G>T | |
| 9 | g.134842179C= | CA1883396603 | COL5A1 | c.5393C= (p.Thr1798=) n.71-21970G= | |
| 9 | g.134842179C>G | CA375461770 | COL5A1 | c.5393C>G (p.Thr1798Arg) n.71-21970G>C | |
| 9 | g.134842179C>T | CA5320741 | COL5A1 | c.5393C>T (p.Thr1798Met) n.71-21970G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.134842180G>A | CA201119770 | COL5A1 | c.5394G>A (p.Thr1798=) n.71-21971C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134842180G>C | CA467668207 | COL5A1 | c.5394G>C (p.Thr1798=) n.71-21971C>G | |
| 9 | g.134842180G= | CA1883396604 | COL5A1 | c.5394G= (p.Thr1798=) n.71-21971C= | |
| 9 | g.134842180G>T | CA467668208 | COL5A1 | c.5394G>T (p.Thr1798=) n.71-21971C>A | |
| 9 | g.134842181G>A | CA325265 | COL5A1 | c.5395G>A (p.Val1799Ile) n.71-21972C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134842181G>C | CA375461773 | COL5A1 | c.5395G>C (p.Val1799Leu) n.71-21972C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842181G= | CA1883396605 | COL5A1 | c.5395G= (p.Val1799=) n.71-21972C= | |
| 9 | g.134842181G>T | CA201119779 | COL5A1 | c.5395G>T (p.Val1799Phe) n.71-21972C>A | dbSNP |
| 9 | g.134842182T>A | CA375461775 | COL5A1 | c.5396T>A (p.Val1799Asp) n.71-21973A>T | |
| 9 | g.134842182T>C | CA375461777 | COL5A1 | c.5396T>C (p.Val1799Ala) n.71-21973A>G | |
| 9 | g.134842182T>G | CA375461779 | COL5A1 | c.5396T>G (p.Val1799Gly) n.71-21973A>C | |
| 9 | g.134842183T>A | CA467668209 | COL5A1 | c.5397T>A (p.Val1799=) n.71-21974A>T | |
| 9 | g.134842183T>C | CA467668210 | COL5A1 | c.5397T>C (p.Val1799=) n.71-21974A>G | |
| 9 | g.134842183T>G | CA467668211 | COL5A1 | c.5397T>G (p.Val1799=) n.71-21974A>C | gnomAD v4 |
| 9 | g.134842184C>A | CA375461780 | COL5A1 | c.5398C>A (p.Leu1800Met) n.71-21975G>T | gnomAD v4 |
| 9 | g.134842184C>G | CA375461782 | COL5A1 | c.5398C>G (p.Leu1800Val) n.71-21975G>C | |
| 9 | g.134842184C>T | CA467668212 | COL5A1 | c.5398C>T (p.Leu1800=) n.71-21975G>A | |
| 9 | g.134842185T>A | CA375461786 | COL5A1 | c.5399T>A (p.Leu1800Gln) n.71-21976A>T | |
| 9 | g.134842185T>C | CA375461785 | COL5A1 | c.5399T>C (p.Leu1800Pro) n.71-21976A>G | |
| 9 | g.134842185T>G | CA375461783 | COL5A1 | c.5399T>G (p.Leu1800Arg) n.71-21976A>C | |
| 9 | g.134842186G>A | CA467668213 | COL5A1 | c.5400G>A (p.Leu1800=) n.71-21977C>T | gnomAD v4 |
| 9 | g.134842186G>C | CA467668214 | COL5A1 | c.5400G>C (p.Leu1800=) n.71-21977C>G | |
| 9 | g.134842186G>T | CA467668215 | COL5A1 | c.5400G>T (p.Leu1800=) n.71-21977C>A | |
| 9 | g.134842187G>A | CA375461788 | COL5A1 | c.5401G>A (p.Glu1801Lys) n.71-21978C>T | |
| 9 | g.134842187G>C | CA375461791 | COL5A1 | c.5401G>C (p.Glu1801Gln) n.71-21978C>G | |
| 9 | g.134842187G>T | CA375461790 | COL5A1 | c.5401G>T (p.Glu1801Ter) n.71-21978C>A | |
| 9 | g.134842188A= | CA1883396606 | COL5A1 | c.5402A= (p.Glu1801=) n.71-21979T= | |
| 9 | g.134842188A>C | CA375461793 | COL5A1 | c.5402A>C (p.Glu1801Ala) n.71-21979T>G | |
| 9 | g.134842188A>G | CA375461796 | COL5A1 | c.5402A>G (p.Glu1801Gly) n.71-21979T>C | dbSNP gnomAD v4 |
| 9 | g.134842188A>T | CA375461795 | COL5A1 | c.5402A>T (p.Glu1801Val) n.71-21979T>A | |
| 9 | g.134842189G>A | CA467668216 | COL5A1 | c.5403G>A (p.Glu1801=) n.71-21980C>T | |
| 9 | g.134842189G>C | CA375461798 | COL5A1 | c.5403G>C (p.Glu1801Asp) n.71-21980C>G | |
| 9 | g.134842189G>T | CA375461799 | COL5A1 | c.5403G>T (p.Glu1801Asp) n.71-21980C>A | |
| 9 | g.134842190A>C | CA375461801 | COL5A1 | c.5404A>C (p.Ile1802Leu) n.71-21981T>G | |
| 9 | g.134842190A>G | CA375461803 | COL5A1 | c.5404A>G (p.Ile1802Val) n.71-21981T>C | |
| 9 | g.134842190A>T | CA375461804 | COL5A1 | c.5404A>T (p.Ile1802Phe) n.71-21981T>A | |
| 9 | g.134842191T>A | CA375461806 | COL5A1 | c.5405T>A (p.Ile1802Asn) n.71-21982A>T | |
| 9 | g.134842191T>C | CA375461807 | COL5A1 | c.5405T>C (p.Ile1802Thr) n.71-21982A>G | |
| 9 | g.134842191T>G | CA375461809 | COL5A1 | c.5405T>G (p.Ile1802Ser) n.71-21982A>C | |
| 9 | g.134842192C>A | CA467668220 | COL5A1 | c.5406C>A (p.Ile1802=) n.71-21983G>T | dbSNP |
| 9 | g.134842192C= | CA1883396607 | COL5A1 | c.5406C= (p.Ile1802=) n.71-21983G= | |
| 9 | g.134842192C>G | CA375461811 | COL5A1 | c.5406C>G (p.Ile1802Met) n.71-21983G>C | |
| 9 | g.134842192C>T | CA5320742 | COL5A1 | c.5406C>T (p.Ile1802=) n.71-21983G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.134842193G>A | CA290323 | COL5A1 | c.5407G>A (p.Asp1803Asn) n.71-21984C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842193G>C | CA375461814 | COL5A1 | c.5407G>C (p.Asp1803His) n.71-21984C>G | |
| 9 | g.134842193G= | CA1883396608 | COL5A1 | c.5407G= (p.Asp1803=) n.71-21984C= | |
| 9 | g.134842193G>T | CA375461812 | COL5A1 | c.5407G>T (p.Asp1803Tyr) n.71-21984C>A | dbSNP |
| 9 | g.134842194A>C | CA375461817 | COL5A1 | c.5408A>C (p.Asp1803Ala) n.71-21985T>G | |
| 9 | g.134842194A>G | CA375461818 | COL5A1 | c.5408A>G (p.Asp1803Gly) n.71-21985T>C | |
| 9 | g.134842194A>T | CA375461820 | COL5A1 | c.5408A>T (p.Asp1803Val) n.71-21985T>A | |
| 9 | g.134842195C>A | CA375461822 | COL5A1 | c.5409C>A (p.Asp1803Glu) n.71-21986G>T | |
| 9 | g.134842195C>G | CA375461823 | COL5A1 | c.5409C>G (p.Asp1803Glu) n.71-21986G>C | |
| 9 | g.134842195C>T | CA467668224 | COL5A1 | c.5409C>T (p.Asp1803=) n.71-21986G>A | |
| 9 | g.134842196A>C | CA375461825 | COL5A1 | c.5410A>C (p.Thr1804Pro) n.71-21987T>G | |
| 9 | g.134842196A>G | CA375461827 | COL5A1 | c.5410A>G (p.Thr1804Ala) n.71-21987T>C | |
| 9 | g.134842196A>T | CA375461828 | COL5A1 | c.5410A>T (p.Thr1804Ser) n.71-21987T>A | |
| 9 | g.134842197C>A | CA5320743 | COL5A1 | c.5411C>A (p.Thr1804Asn) n.71-21988G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842197C= | CA1883396609 | COL5A1 | c.5411C= (p.Thr1804=) n.71-21988G= | |
| 9 | g.134842197C>G | CA375461830 | COL5A1 | c.5411C>G (p.Thr1804Ser) n.71-21988G>C | ClinVar dbSNP |
| 9 | g.134842197C>T | CA375461832 | COL5A1 | c.5411C>T (p.Thr1804Ile) n.71-21988G>A | |
| 9 | g.134842201del | CA2573144145 | COL5A1 | c.5415del (p.Val1807TrpfsTer?) n.71-21988del | ClinVar dbSNP |
| 9 | g.134842198C>A | CA467668225 | COL5A1 | c.5412C>A (p.Thr1804=) n.71-21989G>T | |
| 9 | g.134842198C>G | CA467668227 | COL5A1 | c.5412C>G (p.Thr1804=) n.71-21989G>C | |
| 9 | g.134842198C>T | CA467668228 | COL5A1 | c.5412C>T (p.Thr1804=) n.71-21989G>A | |
| 9 | g.134842199C>A | CA375461834 | COL5A1 | c.5413C>A (p.Pro1805Thr) n.71-21990G>T | |
| 9 | g.134842199C= | CA1883396610 | COL5A1 | c.5413C= (p.Pro1805=) n.71-21990G= | |
| 9 | g.134842199C>G | CA375461836 | COL5A1 | c.5413C>G (p.Pro1805Ala) n.71-21990G>C | |
| 9 | g.134842199C>T | CA201119784 | COL5A1 | c.5413C>T (p.Pro1805Ser) n.71-21990G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.134842200C>A | CA16618793 | COL5A1 | c.5414C>A (p.Pro1805His) n.71-21991G>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.134842200C= | CA1883396611 | COL5A1 | c.5414C= (p.Pro1805=) n.71-21991G= | |
| 9 | g.134842200C>G | CA5320744 | COL5A1 | c.5414C>G (p.Pro1805Arg) n.71-21991G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842200C>T | CA5320745 | COL5A1 | c.5414C>T (p.Pro1805Leu) n.71-21991G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842201C>A | CA467668229 | COL5A1 | c.5415C>A (p.Pro1805=) n.71-21992G>T | |
| 9 | g.134842201C= | CA1883396612 | COL5A1 | c.5415C= (p.Pro1805=) n.71-21992G= | |
| 9 | g.134842201C>G | CA467668230 | COL5A1 | c.5415C>G (p.Pro1805=) n.71-21992G>C | |
| 9 | g.134842201C>T | CA201119793 | COL5A1 | c.5415C>T (p.Pro1805=) n.71-21992G>A | ClinVar dbSNP |
| 9 | g.134842202A= | CA1883396613 | COL5A1 | c.5416A= (p.Lys1806=) n.71-21993T= | |
| 9 | g.134842202A>C | CA375461839 | COL5A1 | c.5416A>C (p.Lys1806Gln) n.71-21993T>G | |
| 9 | g.134842202A>G | CA375461841 | COL5A1 | c.5416A>G (p.Lys1806Glu) n.71-21993T>C | ClinVar dbSNP |
| 9 | g.134842202A>T | CA375461842 | COL5A1 | c.5416A>T (p.Lys1806Ter) n.71-21993T>A | |
| 9 | g.134842203A>C | CA375461843 | COL5A1 | c.5417A>C (p.Lys1806Thr) n.71-21994T>G | |
| 9 | g.134842203A>G | CA375461845 | COL5A1 | c.5417A>G (p.Lys1806Arg) n.71-21994T>C | |
| 9 | g.134842203A>T | CA375461847 | COL5A1 | c.5417A>T (p.Lys1806Ile) n.71-21994T>A | |
| 9 | g.134842203_134842206dup | CA2697558183 | COL5A1 | c.5417_5420dup (p.Glu1808SerfsTer13) n.71-21997_71-21994dup | ClinVar |
| 9 | g.134842204A>C | CA375461848 | COL5A1 | c.5418A>C (p.Lys1806Asn) n.71-21995T>G | |
| 9 | g.134842204A>G | CA467668232 | COL5A1 | c.5418A>G (p.Lys1806=) n.71-21995T>C | gnomAD v4 |
| 9 | g.134842204A>T | CA375461850 | COL5A1 | c.5418A>T (p.Lys1806Asn) n.71-21995T>A | |
| 9 | g.134842205G>A | CA375461853 | COL5A1 | c.5419G>A (p.Val1807Met) n.71-21996C>T | |
| 9 | g.134842205G>C | CA375461854 | COL5A1 | c.5419G>C (p.Val1807Leu) n.71-21996C>G | |
| 9 | g.134842205G>T | CA375461851 | COL5A1 | c.5419G>T (p.Val1807Leu) n.71-21996C>A | |
| 9 | g.134842206T>A | CA375461855 | COL5A1 | c.5420T>A (p.Val1807Glu) n.71-21997A>T | ClinVar dbSNP |
| 9 | g.134842206T>C | CA375461856 | COL5A1 | c.5420T>C (p.Val1807Ala) n.71-21997A>G | gnomAD v4 |
| 9 | g.134842206T>G | CA375461858 | COL5A1 | c.5420T>G (p.Val1807Gly) n.71-21997A>C | |
| 9 | g.134842206T= | CA1883396614 | COL5A1 | c.5420T= (p.Val1807=) n.71-21997A= | |
| 9 | g.134842207G>A | CA467668233 | COL5A1 | c.5421G>A (p.Val1807=) n.71-21998C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842207G>C | CA467668234 | COL5A1 | c.5421G>C (p.Val1807=) n.71-21998C>G | |
| 9 | g.134842207G= | CA1883396615 | COL5A1 | c.5421G= (p.Val1807=) n.71-21998C= | |
| 9 | g.134842207G>T | CA467668235 | COL5A1 | c.5421G>T (p.Val1807=) n.71-21998C>A | |
| 9 | g.134842208dup | CA2695211576 | COL5A1 | c.5422dup (p.Glu1808GlyfsTer12) n.71-21998dup | |
| 9 | g.134842208G>A | CA375461859 | COL5A1 | c.5422G>A (p.Glu1808Lys) n.71-21999C>T | COSMIC |
| 9 | g.134842208G>C | CA375461861 | COL5A1 | c.5422G>C (p.Glu1808Gln) n.71-21999C>G | |
| 9 | g.134842208G>T | CA375461863 | COL5A1 | c.5422G>T (p.Glu1808Ter) n.71-21999C>A | |
| 9 | g.134842209A>C | CA375461865 | COL5A1 | c.5423A>C (p.Glu1808Ala) n.71-22000T>G | |
| 9 | g.134842209A>G | CA375461867 | COL5A1 | c.5423A>G (p.Glu1808Gly) n.71-22000T>C | |
| 9 | g.134842209A>T | CA375461866 | COL5A1 | c.5423A>T (p.Glu1808Val) n.71-22000T>A | |
| 9 | g.134842210G>A | CA467668237 | COL5A1 | c.5424G>A (p.Glu1808=) n.71-22001C>T | gnomAD v4 |
| 9 | g.134842210G>C | CA375461869 | COL5A1 | c.5424G>C (p.Glu1808Asp) n.71-22001C>G | |
| 9 | g.134842210G>T | CA375461871 | COL5A1 | c.5424G>T (p.Glu1808Asp) n.71-22001C>A | |
| 9 | g.134842211C>A | CA375461873 | COL5A1 | c.5425C>A (p.Gln1809Lys) n.71-22002G>T | |
| 9 | g.134842211C>G | CA375461874 | COL5A1 | c.5425C>G (p.Gln1809Glu) n.71-22002G>C | |
| 9 | g.134842211C>T | CA375461875 | COL5A1 | c.5425C>T (p.Gln1809Ter) n.71-22002G>A | ClinVar dbSNP |
| 9 | g.134842212A= | CA1883396616 | COL5A1 | c.5426A= (p.Gln1809=) n.71-22003T= | |
| 9 | g.134842212A>C | CA375461880 | COL5A1 | c.5426A>C (p.Gln1809Pro) n.71-22003T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134842212A>G | CA375461878 | COL5A1 | c.5426A>G (p.Gln1809Arg) n.71-22003T>C | |
| 9 | g.134842212A>T | CA375461877 | COL5A1 | c.5426A>T (p.Gln1809Leu) n.71-22003T>A | |
| 9 | g.134842213G>A | CA467668238 | COL5A1 | c.5427G>A (p.Gln1809=) n.71-22004C>T | gnomAD v4 |
| 9 | g.134842213G>C | CA375461883 | COL5A1 | c.5427G>C (p.Gln1809His) n.71-22004C>G | |
| 9 | g.134842213G>T | CA375461881 | COL5A1 | c.5427G>T (p.Gln1809His) n.71-22004C>A | |
| 9 | g.134842214G>A | CA375461887 | COL5A1 | c.5428G>A (p.Val1810Met) n.71-22005C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134842214G>C | CA375461885 | COL5A1 | c.5428G>C (p.Val1810Leu) n.71-22005C>G | gnomAD v4 |
| 9 | g.134842214G= | CA1883396617 | COL5A1 | c.5428G= (p.Val1810=) n.71-22005C= | |
| 9 | g.134842214G>T | CA5320746 | COL5A1 | c.5428G>T (p.Val1810Leu) n.71-22005C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134842215T>A | CA375461889 | COL5A1 | c.5429T>A (p.Val1810Glu) n.71-22006A>T | |
| 9 | g.134842215T>C | CA375461890 | COL5A1 | c.5429T>C (p.Val1810Ala) n.71-22006A>G | |
| 9 | g.134842215T>G | CA375461891 | COL5A1 | c.5429T>G (p.Val1810Gly) n.71-22006A>C | |
| 9 | g.134842216G>A | CA467668244 | COL5A1 | c.5430G>A (p.Val1810=) n.71-22007C>T | ClinVar |
| 9 | g.134842216G>C | CA467668243 | COL5A1 | c.5430G>C (p.Val1810=) n.71-22007C>G | |
| 9 | g.134842216G>T | CA467668242 | COL5A1 | c.5430G>T (p.Val1810=) n.71-22007C>A | COSMIC |
| 9 | g.134842217C>A | CA375461893 | COL5A1 | c.5431C>A (p.Pro1811Thr) n.71-22008G>T | |
| 9 | g.134842217C>G | CA375461895 | COL5A1 | c.5431C>G (p.Pro1811Ala) n.71-22008G>C | |
| 9 | g.134842217C>T | CA375461896 | COL5A1 | c.5431C>T (p.Pro1811Ser) n.71-22008G>A | |
| 9 | g.134842218C>A | CA375461898 | COL5A1 | c.5432C>A (p.Pro1811His) n.71-22009G>T | |
| 9 | g.134842218C= | CA1883396618 | COL5A1 | c.5432C= (p.Pro1811=) n.71-22009G= | |
| 9 | g.134842218C>G | CA375461899 | COL5A1 | c.5432C>G (p.Pro1811Arg) n.71-22009G>C | |
| 9 | g.134842218C>T | CA375461901 | COL5A1 | c.5432C>T (p.Pro1811Leu) n.71-22009G>A | ClinVar dbSNP |
| 9 | g.134842219C>A | CA467668247 | COL5A1 | c.5433C>A (p.Pro1811=) n.71-22010G>T | COSMIC |
| 9 | g.134842219C>G | CA467668250 | COL5A1 | c.5433C>G (p.Pro1811=) n.71-22010G>C | |
| 9 | g.134842219C>T | CA467668249 | COL5A1 | c.5433C>T (p.Pro1811=) n.71-22010G>A | |
| 9 | g.134842220A= | CA1883396619 | COL5A1 | c.5434A= (p.Ile1812=) n.71-22011T= | |
| 9 | g.134842220A>C | CA375461904 | COL5A1 | c.5434A>C (p.Ile1812Leu) n.71-22011T>G | |
| 9 | g.134842220A>G | CA5320747 | COL5A1 | c.5434A>G (p.Ile1812Val) n.71-22011T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842220A>T | CA375461902 | COL5A1 | c.5434A>T (p.Ile1812Phe) n.71-22011T>A | |
| 9 | g.134842221T>A | CA375461905 | COL5A1 | c.5435T>A (p.Ile1812Asn) n.71-22012A>T | |
| 9 | g.134842221T>C | CA375461907 | COL5A1 | c.5435T>C (p.Ile1812Thr) n.71-22012A>G | |
| 9 | g.134842221T>G | CA375461908 | COL5A1 | c.5435T>G (p.Ile1812Ser) n.71-22012A>C | |
| 9 | g.134842222C>A | CA467668251 | COL5A1 | c.5436C>A (p.Ile1812=) n.71-22013G>T | dbSNP |
| 9 | g.134842222C= | CA1883396620 | COL5A1 | c.5436C= (p.Ile1812=) n.71-22013G= | |
| 9 | g.134842222C>G | CA375461910 | COL5A1 | c.5436C>G (p.Ile1812Met) n.71-22013G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134842222C>T | CA5320748 | COL5A1 | c.5436C>T (p.Ile1812=) n.71-22013G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842223G>A | CA5320749 | COL5A1 | c.5437G>A (p.Val1813Met) n.71-22014C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842223G>C | CA375461912 | COL5A1 | c.5437G>C (p.Val1813Leu) n.71-22014C>G | |
| 9 | g.134842223G= | CA1883396621 | COL5A1 | c.5437G= (p.Val1813=) n.71-22014C= | |
| 9 | g.134842223G>T | CA375461914 | COL5A1 | c.5437G>T (p.Val1813Leu) n.71-22014C>A | |
| 9 | g.134842224T>A | CA375461915 | COL5A1 | c.5438T>A (p.Val1813Glu) n.71-22015A>T | |
| 9 | g.134842224T>C | CA375461917 | COL5A1 | c.5438T>C (p.Val1813Ala) n.71-22015A>G | gnomAD v4 |
| 9 | g.134842224T>G | CA375461919 | COL5A1 | c.5438T>G (p.Val1813Gly) n.71-22015A>C | |
| 9 | g.134842225G>A | CA467668253 | COL5A1 | c.5439G>A (p.Val1813=) n.71-22016C>T | |
| 9 | g.134842225G>C | CA467668254 | COL5A1 | c.5439G>C (p.Val1813=) n.71-22016C>G | |
| 9 | g.134842225G= | CA1883396622 | COL5A1 | c.5439G= (p.Val1813=) n.71-22016C= | |
| 9 | g.134842225G>T | CA10629504 | COL5A1 | c.5439G>T (p.Val1813=) n.71-22016C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134842226G>A | CA375461922 | COL5A1 | c.5440G>A (p.Asp1814Asn) n.71-22017C>T | |
| 9 | g.134842226G>C | CA375461924 | COL5A1 | c.5440G>C (p.Asp1814His) n.71-22017C>G | |
| 9 | g.134842226G>T | CA375461921 | COL5A1 | c.5440G>T (p.Asp1814Tyr) n.71-22017C>A | |
| 9 | g.134842227A>C | CA375461926 | COL5A1 | c.5441A>C (p.Asp1814Ala) n.71-22018T>G | |
| 9 | g.134842227A>G | CA375461927 | COL5A1 | c.5441A>G (p.Asp1814Gly) n.71-22018T>C | |
| 9 | g.134842227A>T | CA375461929 | COL5A1 | c.5441A>T (p.Asp1814Val) n.71-22018T>A | COSMIC |
| 9 | g.134842228C>A | CA375461930 | COL5A1 | c.5442C>A (p.Asp1814Glu) n.71-22019G>T | |
| 9 | g.134842228C>G | CA375461932 | COL5A1 | c.5442C>G (p.Asp1814Glu) n.71-22019G>C | |
| 9 | g.134842228C>T | CA467668255 | COL5A1 | c.5442C>T (p.Asp1814=) n.71-22019G>A | |
| 9 | g.134842229A>C | CA375461934 | COL5A1 | c.5443A>C (p.Ile1815Leu) n.71-22020T>G | |
| 9 | g.134842229A>G | CA375461935 | COL5A1 | c.5443A>G (p.Ile1815Val) n.71-22020T>C | |
| 9 | g.134842229A>T | CA375461937 | COL5A1 | c.5443A>T (p.Ile1815Phe) n.71-22020T>A | |
| 9 | g.134842230T>A | CA375461939 | COL5A1 | c.5444T>A (p.Ile1815Asn) n.71-22021A>T | |
| 9 | g.134842230T>C | CA375461940 | COL5A1 | c.5444T>C (p.Ile1815Thr) n.71-22021A>G | |
| 9 | g.134842230T>G | CA375461942 | COL5A1 | c.5444T>G (p.Ile1815Ser) n.71-22021A>C | |
| 9 | g.134842231C>A | CA467668256 | COL5A1 | c.5445C>A (p.Ile1815=) n.71-22022G>T | |
| 9 | g.134842231C>G | CA375461943 | COL5A1 | c.5445C>G (p.Ile1815Met) n.71-22022G>C | |
| 9 | g.134842231C>T | CA467668257 | COL5A1 | c.5445C>T (p.Ile1815=) n.71-22022G>A | |
| 9 | g.134842232A= | CA1883396623 | COL5A1 | c.5446A= (p.Met1816=) n.71-22023T= | |
| 9 | g.134842232A>C | CA375461946 | COL5A1 | c.5446A>C (p.Met1816Leu) n.71-22023T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134842232A>G | CA375461948 | COL5A1 | c.5446A>G (p.Met1816Val) n.71-22023T>C | gnomAD v4 |
| 9 | g.134842232A>T | CA201119823 | COL5A1 | c.5446A>T (p.Met1816Leu) n.71-22023T>A | dbSNP |
| 9 | g.134842233T>A | CA375461949 | COL5A1 | c.5447T>A (p.Met1816Lys) n.71-22024A>T | |
| 9 | g.134842233T>C | CA5320750 | COL5A1 | c.5447T>C (p.Met1816Thr) n.71-22024A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842233T>G | CA375461952 | COL5A1 | c.5447T>G (p.Met1816Arg) n.71-22024A>C | dbSNP gnomAD v4 |
| 9 | g.134842233T= | CA1883396624 | COL5A1 | c.5447T= (p.Met1816=) n.71-22024A= | |
| 9 | g.134842234G>A | CA375461953 | COL5A1 | c.5448G>A (p.Met1816Ile) n.71-22025C>T | |
| 9 | g.134842234G>C | CA375461955 | COL5A1 | c.5448G>C (p.Met1816Ile) n.71-22025C>G | |
| 9 | g.134842234G>T | CA375461956 | COL5A1 | c.5448G>T (p.Met1816Ile) n.71-22025C>A | |
| 9 | g.134842235T>A | CA375461959 | COL5A1 | c.5449T>A (p.Phe1817Ile) n.71-22026A>T | |
| 9 | g.134842235T>C | CA201119839 | COL5A1 | c.5449T>C (p.Phe1817Leu) n.71-22026A>G | dbSNP |
| 9 | g.134842235T>G | CA375461958 | COL5A1 | c.5449T>G (p.Phe1817Val) n.71-22026A>C | |
| 9 | g.134842235T= | CA1883396625 | COL5A1 | c.5449T= (p.Phe1817=) n.71-22026A= | |
| 9 | g.134842236T>A | CA375461960 | COL5A1 | c.5450T>A (p.Phe1817Tyr) n.71-22027A>T | |
| 9 | g.134842236T>C | CA375461961 | COL5A1 | c.5450T>C (p.Phe1817Ser) n.71-22027A>G | |
| 9 | g.134842236T>G | CA375461962 | COL5A1 | c.5450T>G (p.Phe1817Cys) n.71-22027A>C | |
| 9 | g.134842237C>A | CA375461964 | COL5A1 | c.5451C>A (p.Phe1817Leu) n.71-22028G>T | |
| 9 | g.134842237C= | CA1883396626 | COL5A1 | c.5451C= (p.Phe1817=) n.71-22028G= | |
| 9 | g.134842237C>G | CA375461966 | COL5A1 | c.5451C>G (p.Phe1817Leu) n.71-22028G>C | |
| 9 | g.134842237C>T | CA5320751 | COL5A1 | c.5451C>T (p.Phe1817=) n.71-22028G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134842238A= | CA1883396627 | COL5A1 | c.5452A= (p.Asn1818=) n.71-22029T= | |
| 9 | g.134842238A>C | CA375461968 | COL5A1 | c.5452A>C (p.Asn1818His) n.71-22029T>G | |
| 9 | g.134842238A>G | CA375461969 | COL5A1 | c.5452A>G (p.Asn1818Asp) n.71-22029T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842238A>T | CA375461967 | COL5A1 | c.5452A>T (p.Asn1818Tyr) n.71-22029T>A | |
| 9 | g.134842239A= | CA1883396628 | COL5A1 | c.5453A= (p.Asn1818=) n.71-22030T= | |
| 9 | g.134842239A>C | CA375461970 | COL5A1 | c.5453A>C (p.Asn1818Thr) n.71-22030T>G | |
| 9 | g.134842239A>G | CA323728 | COL5A1 | c.5453A>G (p.Asn1818Ser) n.71-22030T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842239A>T | CA375461971 | COL5A1 | c.5453A>T (p.Asn1818Ile) n.71-22030T>A | |
| 9 | g.134842240T>A | CA375461972 | COL5A1 | c.5454T>A (p.Asn1818Lys) n.71-22031A>T | |
| 9 | g.134842240T>C | CA467668261 | COL5A1 | c.5454T>C (p.Asn1818=) n.71-22031A>G | dbSNP gnomAD v4 |
| 9 | g.134842240T>G | CA375461974 | COL5A1 | c.5454T>G (p.Asn1818Lys) n.71-22031A>C | |
| 9 | g.134842240T= | CA1883396629 | COL5A1 | c.5454T= (p.Asn1818=) n.71-22031A= | |
| 9 | g.134842241G>A | CA375461976 | COL5A1 | c.5455G>A (p.Asp1819Asn) n.71-22032C>T | |
| 9 | g.134842241G>C | CA375461977 | COL5A1 | c.5455G>C (p.Asp1819His) n.71-22032C>G | |
| 9 | g.134842241G>T | CA375461979 | COL5A1 | c.5455G>T (p.Asp1819Tyr) n.71-22032C>A | gnomAD v4 |
| 9 | g.134842242A= | CA1883396630 | COL5A1 | c.5456A= (p.Asp1819=) n.71-22033T= | |
| 9 | g.134842242A>C | CA375461980 | COL5A1 | c.5456A>C (p.Asp1819Ala) n.71-22033T>G | |
| 9 | g.134842242A>G | CA375461982 | COL5A1 | c.5456A>G (p.Asp1819Gly) n.71-22033T>C | dbSNP gnomAD v4 |
| 9 | g.134842242A>T | CA375461983 | COL5A1 | c.5456A>T (p.Asp1819Val) n.71-22033T>A | |
| 9 | g.134842243C>A | CA375461985 | COL5A1 | c.5457C>A (p.Asp1819Glu) n.71-22034G>T | |
| 9 | g.134842243C>G | CA375461987 | COL5A1 | c.5457C>G (p.Asp1819Glu) n.71-22034G>C | |
| 9 | g.134842243C>T | CA467668264 | COL5A1 | c.5457C>T (p.Asp1819=) n.71-22034G>A | ClinVar gnomAD v4 |
| 9 | g.134842243_134842245delinsCTT | CA1883396632 | COL5A1 | c.5457_5459delinsCTT (p.Asp1819=) n.71-22036_71-22034delinsAAG | |
| 9 | g.134842244T>A | CA375461988 | COL5A1 | c.5458T>A (p.Phe1820Ile) n.71-22035A>T | |
| 9 | g.134842244T>C | CA375461989 | COL5A1 | c.5458T>C (p.Phe1820Leu) n.71-22035A>G | |
| 9 | g.134842244T>G | CA375461990 | COL5A1 | c.5458T>G (p.Phe1820Val) n.71-22035A>C | |
| 9 | g.134842244_134842245del | CA913189654 | COL5A1 | c.5458_5459del (p.Phe1820ArgfsTer2) n.71-22036_71-22035del | ClinVar dbSNP |
| 9 | g.134842245T>A | CA375461995 | COL5A1 | c.5459T>A (p.Phe1820Tyr) n.71-22036A>T | |
| 9 | g.134842245T>C | CA375461993 | COL5A1 | c.5459T>C (p.Phe1820Ser) n.71-22036A>G | |
| 9 | g.134842245T>G | CA375461992 | COL5A1 | c.5459T>G (p.Phe1820Cys) n.71-22036A>C | |
| 9 | g.134842246C>A | CA375461996 | COL5A1 | c.5460C>A (p.Phe1820Leu) n.71-22037G>T | |
| 9 | g.134842246C= | CA1883396633 | COL5A1 | c.5460C= (p.Phe1820=) n.71-22037G= | |
| 9 | g.134842246C>G | CA375461998 | COL5A1 | c.5460C>G (p.Phe1820Leu) n.71-22037G>C | |
| 9 | g.134842246C>T | CA5320752 | COL5A1 | c.5460C>T (p.Phe1820=) n.71-22037G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134842247G>A | CA5320753 | COL5A1 | c.5461G>A (p.Gly1821Ser) n.71-22038C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842247G>C | CA375462001 | COL5A1 | c.5461G>C (p.Gly1821Arg) n.71-22038C>G | |
| 9 | g.134842247G= | CA1883396635 | COL5A1 | c.5461G= (p.Gly1821=) n.71-22038C= | |
| 9 | g.134842247G>T | CA375462002 | COL5A1 | c.5461G>T (p.Gly1821Cys) n.71-22038C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134842248G>A | CA375462004 | COL5A1 | c.5462G>A (p.Gly1821Asp) n.71-22039C>T | |
| 9 | g.134842248G>C | CA375462005 | COL5A1 | c.5462G>C (p.Gly1821Ala) n.71-22039C>G | |
| 9 | g.134842248G>T | CA375462006 | COL5A1 | c.5462G>T (p.Gly1821Val) n.71-22039C>A | |
| 9 | g.134842249T>A | CA467668269 | COL5A1 | c.5463T>A (p.Gly1821=) n.71-22040A>T | |
| 9 | g.134842249T>C | CA467668270 | COL5A1 | c.5463T>C (p.Gly1821=) n.71-22040A>G | |
| 9 | g.134842249T>G | CA467668271 | COL5A1 | c.5463T>G (p.Gly1821=) n.71-22040A>C | |
| 9 | g.134842250G>A | CA375462008 | COL5A1 | c.5464G>A (p.Glu1822Lys) n.71-22041C>T | ClinVar gnomAD v4 |
| 9 | g.134842250G>C | CA375462009 | COL5A1 | c.5464G>C (p.Glu1822Gln) n.71-22041C>G | dbSNP |
| 9 | g.134842250G>T | CA375462010 | COL5A1 | c.5464G>T (p.Glu1822Ter) n.71-22041C>A | |
| 9 | g.134842251A>C | CA375462015 | COL5A1 | c.5465A>C (p.Glu1822Ala) n.71-22042T>G | |
| 9 | g.134842251A>G | CA375462013 | COL5A1 | c.5465A>G (p.Glu1822Gly) n.71-22042T>C | |
| 9 | g.134842251A>T | CA375462012 | COL5A1 | c.5465A>T (p.Glu1822Val) n.71-22042T>A | |
| 9 | g.134842252A>C | CA375462017 | COL5A1 | c.5466A>C (p.Glu1822Asp) n.71-22043T>G | |
| 9 | g.134842252A>G | CA467668274 | COL5A1 | c.5466A>G (p.Glu1822=) n.71-22043T>C | |
| 9 | g.134842252A>T | CA375462018 | COL5A1 | c.5466A>T (p.Glu1822Asp) n.71-22043T>A | |
| 9 | g.134842253G>A | CA375462019 | COL5A1 | c.5467G>A (p.Ala1823Thr) n.71-22044C>T | |
| 9 | g.134842253G>C | CA375462021 | COL5A1 | c.5467G>C (p.Ala1823Pro) n.71-22044C>G | |
| 9 | g.134842253G>T | CA375462023 | COL5A1 | c.5467G>T (p.Ala1823Ser) n.71-22044C>A | |
| 9 | g.134842254C>A | CA375462024 | COL5A1 | c.5468C>A (p.Ala1823Glu) n.71-22045G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842254C= | CA1883396640 | COL5A1 | c.5468C= (p.Ala1823=) n.71-22045G= | |
| 9 | g.134842254C>G | CA375462026 | COL5A1 | c.5468C>G (p.Ala1823Gly) n.71-22045G>C | |
| 9 | g.134842254C>T | CA321908 | COL5A1 | c.5468C>T (p.Ala1823Val) n.71-22045G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842255G>A | CA5320755 | COL5A1 | c.5469G>A (p.Ala1823=) n.71-22046C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134842255G>C | CA5320754 | COL5A1 | c.5469G>C (p.Ala1823=) n.71-22046C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842255G= | CA1883396646 | COL5A1 | c.5469G= (p.Ala1823=) n.71-22046C= | |
| 9 | g.134842255G>T | CA467668276 | COL5A1 | c.5469G>T (p.Ala1823=) n.71-22046C>A | COSMIC |
| 9 | g.134842256T>A | CA375462030 | COL5A1 | c.5470T>A (p.Ser1824Thr) n.71-22047A>T | |
| 9 | g.134842256T>C | CA5320756 | COL5A1 | c.5470T>C (p.Ser1824Pro) n.71-22047A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842256T>G | CA375462031 | COL5A1 | c.5470T>G (p.Ser1824Ala) n.71-22047A>C | |
| 9 | g.134842256T= | CA1883396652 | COL5A1 | c.5470T= (p.Ser1824=) n.71-22047A= | |
| 9 | g.134842257C>A | CA375462036 | COL5A1 | c.5471C>A (p.Ser1824Ter) n.71-22048G>T | |
| 9 | g.134842257C>G | CA375462033 | COL5A1 | c.5471C>G (p.Ser1824Ter) n.71-22048G>C | |
| 9 | g.134842257C>T | CA375462035 | COL5A1 | c.5471C>T (p.Ser1824Leu) n.71-22048G>A | gnomAD v4 |
| 9 | g.134842258A>C | CA467668277 | COL5A1 | c.5472A>C (p.Ser1824=) n.71-22049T>G | |
| 9 | g.134842258A>G | CA467668278 | COL5A1 | c.5472A>G (p.Ser1824=) n.71-22049T>C | |
| 9 | g.134842258A>T | CA467668280 | COL5A1 | c.5472A>T (p.Ser1824=) n.71-22049T>A | |
| 9 | g.134842259C>A | CA375462038 | COL5A1 | c.5473C>A (p.Gln1825Lys) n.71-22050G>T | |
| 9 | g.134842259C= | CA1883396655 | COL5A1 | c.5473C= (p.Gln1825=) n.71-22050G= | |
| 9 | g.134842259C>G | CA375462039 | COL5A1 | c.5473C>G (p.Gln1825Glu) n.71-22050G>C | |
| 9 | g.134842259C>T | CA16042686 | COL5A1 | c.5473C>T (p.Gln1825Ter) n.71-22050G>A | ClinVar dbSNP |
| 9 | g.134842260A>C | CA375462041 | COL5A1 | c.5474A>C (p.Gln1825Pro) n.71-22051T>G | |
| 9 | g.134842260A>G | CA375462043 | COL5A1 | c.5474A>G (p.Gln1825Arg) n.71-22051T>C | |
| 9 | g.134842260A>T | CA375462044 | COL5A1 | c.5474A>T (p.Gln1825Leu) n.71-22051T>A | |
| 9 | g.134842261G>A | CA467668281 | COL5A1 | c.5475G>A (p.Gln1825=) n.71-22052C>T | |
| 9 | g.134842261G>C | CA375462045 | COL5A1 | c.5475G>C (p.Gln1825His) n.71-22052C>G | |
| 9 | g.134842261G>T | CA375462047 | COL5A1 | c.5475G>T (p.Gln1825His) n.71-22052C>A | |
| 9 | g.134842262A>C | CA375462048 | COL5A1 | c.5476A>C (p.Lys1826Gln) n.71-22053T>G | ClinVar |
| 9 | g.134842262A>G | CA375462050 | COL5A1 | c.5476A>G (p.Lys1826Glu) n.71-22053T>C | |
| 9 | g.134842262A>T | CA375462052 | COL5A1 | c.5476A>T (p.Lys1826Ter) n.71-22053T>A | |
| 9 | g.134842263A>C | CA375462056 | COL5A1 | c.5477A>C (p.Lys1826Thr) n.71-22054T>G | gnomAD v4 |
| 9 | g.134842263A>G | CA375462054 | COL5A1 | c.5477A>G (p.Lys1826Arg) n.71-22054T>C | |
| 9 | g.134842263A>T | CA375462053 | COL5A1 | c.5477A>T (p.Lys1826Ile) n.71-22054T>A | |
| 9 | g.134842264A>C | CA375462058 | COL5A1 | c.5478A>C (p.Lys1826Asn) n.71-22055T>G | |
| 9 | g.134842264A>G | CA467668284 | COL5A1 | c.5478A>G (p.Lys1826=) n.71-22055T>C | |
| 9 | g.134842264A>T | CA375462060 | COL5A1 | c.5478A>T (p.Lys1826Asn) n.71-22055T>A | |
| 9 | g.134842265T>A | CA375462061 | COL5A1 | c.5479T>A (p.Phe1827Ile) n.71-22056A>T | |
| 9 | g.134842265T>C | CA375462063 | COL5A1 | c.5479T>C (p.Phe1827Leu) n.71-22056A>G | |
| 9 | g.134842265T>G | CA375462065 | COL5A1 | c.5479T>G (p.Phe1827Val) n.71-22056A>C | |
| 9 | g.134842266T>A | CA375462066 | COL5A1 | c.5480T>A (p.Phe1827Tyr) n.71-22057A>T | |
| 9 | g.134842266T>C | CA375462067 | COL5A1 | c.5480T>C (p.Phe1827Ser) n.71-22057A>G | |
| 9 | g.134842266T>G | CA375462069 | COL5A1 | c.5480T>G (p.Phe1827Cys) n.71-22057A>C | |
| 9 | g.134842267T>A | CA375462072 | COL5A1 | c.5481T>A (p.Phe1827Leu) n.71-22058A>T | |
| 9 | g.134842267T>C | CA467668286 | COL5A1 | c.5481T>C (p.Phe1827=) n.71-22058A>G | |
| 9 | g.134842267T>G | CA375462071 | COL5A1 | c.5481T>G (p.Phe1827Leu) n.71-22058A>C | gnomAD v4 |
| 9 | g.134842268G>A | CA375462073 | COL5A1 | c.5482G>A (p.Gly1828Arg) n.71-22059C>T | |
| 9 | g.134842268G>C | CA375462074 | COL5A1 | c.5482G>C (p.Gly1828Arg) n.71-22059C>G | |
| 9 | g.134842268G>T | CA375462075 | COL5A1 | c.5482G>T (p.Gly1828Ter) n.71-22059C>A | |
| 9 | g.134842269G>A | CA375462077 | COL5A1 | c.5483G>A (p.Gly1828Glu) n.71-22060C>T | |
| 9 | g.134842269G>C | CA375462078 | COL5A1 | c.5483G>C (p.Gly1828Ala) n.71-22060C>G | |
| 9 | g.134842269G= | CA1883396660 | COL5A1 | c.5483G= (p.Gly1828=) n.71-22060C= | |
| 9 | g.134842269G>T | CA375462080 | COL5A1 | c.5483G>T (p.Gly1828Val) n.71-22060C>A | dbSNP gnomAD v3 gnomAD v4 |