Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189050602_189050603del | CA538451959 | COL5A2 | c.3012_3013del (p.Gly1005HisfsTer23) c.1851_1852del (p.Gly618HisfsTer23) c.2874_2875del (p.Gly959HisfsTer23) | gnomAD v2 COSMIC |
2 | g.189050600_189050603del | CA2662317776 | COL5A2 | c.3010_3013del (p.Arg1004AlafsTer15) c.1849_1852del (p.Arg617AlafsTer15) c.2872_2875del (p.Arg958AlafsTer15) | gnomAD v4 |
2 | g.189050599C>A | CA349866932 | COL5A2 | c.3009G>T (p.Glu1003Asp) c.1848G>T (p.Glu616Asp) c.2871G>T (p.Glu957Asp) | gnomAD v4 |
2 | g.189050599C>G | CA349866930 | COL5A2 | c.3009G>C (p.Glu1003Asp) c.1848G>C (p.Glu616Asp) c.2871G>C (p.Glu957Asp) | |
2 | g.189050599C>T | CA430322050 | COL5A2 | c.3009G>A (p.Glu1003=) c.1848G>A (p.Glu616=) c.2871G>A (p.Glu957=) | |
2 | g.189050600T>A | CA349866934 | COL5A2 | c.3008A>T (p.Glu1003Val) c.1847A>T (p.Glu616Val) c.2870A>T (p.Glu957Val) | |
2 | g.189050600T>C | CA349866936 | COL5A2 | c.3008A>G (p.Glu1003Gly) c.1847A>G (p.Glu616Gly) c.2870A>G (p.Glu957Gly) | |
2 | g.189050600T>G | CA349866938 | COL5A2 | c.3008A>C (p.Glu1003Ala) c.1847A>C (p.Glu616Ala) c.2870A>C (p.Glu957Ala) | |
2 | g.189050601C>A | CA349866942 | COL5A2 | c.3007G>T (p.Glu1003Ter) c.1846G>T (p.Glu616Ter) c.2869G>T (p.Glu957Ter) | gnomAD v4 |
2 | g.189050601C>G | CA349866944 | COL5A2 | c.3007G>C (p.Glu1003Gln) c.1846G>C (p.Glu616Gln) c.2869G>C (p.Glu957Gln) | |
2 | g.189050601C>T | CA349866946 | COL5A2 | c.3007G>A (p.Glu1003Lys) c.1846G>A (p.Glu616Lys) c.2869G>A (p.Glu957Lys) | |
2 | g.189050602T>A | CA2022139 | COL5A2 | c.3006A>T (p.Gly1002=) c.1845A>T (p.Gly615=) c.2868A>T (p.Gly956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050602T>C | CA62595040 | COL5A2 | c.3006A>G (p.Gly1002=) c.1845A>G (p.Gly615=) c.2868A>G (p.Gly956=) | dbSNP |
2 | g.189050602T>G | CA430322061 | COL5A2 | c.3006A>C (p.Gly1002=) c.1845A>C (p.Gly615=) c.2868A>C (p.Gly956=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189050602T= | CA1315425024 | COL5A2 | c.3006A= (p.Gly1002=) c.1845A= (p.Gly615=) c.2868A= (p.Gly956=) | |
2 | g.189050603C>A | CA349866957 | COL5A2 | c.3005G>T (p.Gly1002Val) c.1844G>T (p.Gly615Val) c.2867G>T (p.Gly956Val) | gnomAD v4 |
2 | g.189050603C>G | CA349866959 | COL5A2 | c.3005G>C (p.Gly1002Ala) c.1844G>C (p.Gly615Ala) c.2867G>C (p.Gly956Ala) | |
2 | g.189050603C>T | CA349866961 | COL5A2 | c.3005G>A (p.Gly1002Glu) c.1844G>A (p.Gly615Glu) c.2867G>A (p.Gly956Glu) | gnomAD v4 |
2 | g.189050604C>A | CA349866964 | COL5A2 | c.3004G>T (p.Gly1002Ter) c.1843G>T (p.Gly615Ter) c.2866G>T (p.Gly956Ter) | gnomAD v4 |
2 | g.189050604C>G | CA349866966 | COL5A2 | c.3004G>C (p.Gly1002Arg) c.1843G>C (p.Gly615Arg) c.2866G>C (p.Gly956Arg) | |
2 | g.189050604C>T | CA349866968 | COL5A2 | c.3004G>A (p.Gly1002Arg) c.1843G>A (p.Gly615Arg) c.2866G>A (p.Gly956Arg) | gnomAD v4 |
2 | g.189050605A= | CA1315425025 | COL5A2 | c.3003T= (p.Arg1001=) c.1842T= (p.Arg614=) c.2865T= (p.Arg955=) | |
2 | g.189050605A>C | CA430322070 | COL5A2 | c.3003T>G (p.Arg1001=) c.1842T>G (p.Arg614=) c.2865T>G (p.Arg955=) | |
2 | g.189050605A>G | CA430322071 | COL5A2 | c.3003T>C (p.Arg1001=) c.1842T>C (p.Arg614=) c.2865T>C (p.Arg955=) | |
2 | g.189050605A>T | CA430322072 | COL5A2 | c.3003T>A (p.Arg1001=) c.1842T>A (p.Arg614=) c.2865T>A (p.Arg955=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050606C>A | CA349866973 | COL5A2 | c.3002G>T (p.Arg1001Leu) c.1841G>T (p.Arg614Leu) c.2864G>T (p.Arg955Leu) | gnomAD v4 |
2 | g.189050606C= | CA1315425026 | COL5A2 | c.3002G= (p.Arg1001=) c.1841G= (p.Arg614=) c.2864G= (p.Arg955=) | |
2 | g.189050606C>G | CA349866975 | COL5A2 | c.3002G>C (p.Arg1001Pro) c.1841G>C (p.Arg614Pro) c.2864G>C (p.Arg955Pro) | ClinVar |
2 | g.189050606C>T | CA349866971 | COL5A2 | c.3002G>A (p.Arg1001His) c.1841G>A (p.Arg614His) c.2864G>A (p.Arg955His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050607G>A | CA320292 | COL5A2 | c.3001C>T (p.Arg1001Cys) c.1840C>T (p.Arg614Cys) c.2863C>T (p.Arg955Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.189050607G>C | CA349866976 | COL5A2 | c.3001C>G (p.Arg1001Gly) c.1840C>G (p.Arg614Gly) c.2863C>G (p.Arg955Gly) | ClinVar |
2 | g.189050607G= | CA1315425027 | COL5A2 | c.3001C= (p.Arg1001=) c.1840C= (p.Arg614=) c.2863C= (p.Arg955=) | |
2 | g.189050607G>T | CA349866979 | COL5A2 | c.3001C>A (p.Arg1001Ser) c.1840C>A (p.Arg614Ser) c.2863C>A (p.Arg955Ser) | |
2 | g.189050608T>A | CA349866981 | COL5A2 | c.3000A>T (p.Gln1000His) c.1839A>T (p.Gln613His) c.2862A>T (p.Gln954His) | |
2 | g.189050608T>C | CA430322081 | COL5A2 | c.3000A>G (p.Gln1000=) c.1839A>G (p.Gln613=) c.2862A>G (p.Gln954=) | gnomAD v4 |
2 | g.189050608T>G | CA349866984 | COL5A2 | c.3000A>C (p.Gln1000His) c.1839A>C (p.Gln613His) c.2862A>C (p.Gln954His) | gnomAD v4 |
2 | g.189050609T>A | CA349866985 | COL5A2 | c.2999A>T (p.Gln1000Leu) c.1838A>T (p.Gln613Leu) c.2861A>T (p.Gln954Leu) | |
2 | g.189050609T>C | CA349866986 | COL5A2 | c.2999A>G (p.Gln1000Arg) c.1838A>G (p.Gln613Arg) c.2861A>G (p.Gln954Arg) | gnomAD v4 |
2 | g.189050609T>G | CA349866988 | COL5A2 | c.2999A>C (p.Gln1000Pro) c.1838A>C (p.Gln613Pro) c.2861A>C (p.Gln954Pro) | |
2 | g.189050610G>A | CA349866991 | COL5A2 | c.2998C>T (p.Gln1000Ter) c.1837C>T (p.Gln613Ter) c.2860C>T (p.Gln954Ter) | gnomAD v4 |
2 | g.189050610G>C | CA349866992 | COL5A2 | c.2998C>G (p.Gln1000Glu) c.1837C>G (p.Gln613Glu) c.2860C>G (p.Gln954Glu) | gnomAD v4 |
2 | g.189050610G>T | CA349866995 | COL5A2 | c.2998C>A (p.Gln1000Lys) c.1837C>A (p.Gln613Lys) c.2860C>A (p.Gln954Lys) | gnomAD v4 |
2 | g.189050611C>A | CA430322089 | COL5A2 | c.2997G>T (p.Gly999=) c.1836G>T (p.Gly612=) c.2859G>T (p.Gly953=) | gnomAD v4 |
2 | g.189050611C= | CA1315425028 | COL5A2 | c.2997G= (p.Gly999=) c.1836G= (p.Gly612=) c.2859G= (p.Gly953=) | |
2 | g.189050611C>G | CA430322090 | COL5A2 | c.2997G>C (p.Gly999=) c.1836G>C (p.Gly612=) c.2859G>C (p.Gly953=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189050611C>T | CA2022140 | COL5A2 | c.2997G>A (p.Gly999=) c.1836G>A (p.Gly612=) c.2859G>A (p.Gly953=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189050613del | CA2662317777 | COL5A2 | c.2997del (p.Gln1000AsnfsTer20) c.1836del (p.Gln613AsnfsTer20) c.2859del (p.Gln954AsnfsTer20) | gnomAD v4 |
2 | g.189050612C>A | CA349866999 | COL5A2 | c.2996G>T (p.Gly999Val) c.1835G>T (p.Gly612Val) c.2858G>T (p.Gly953Val) | gnomAD v4 |
2 | g.189050612C>G | CA349867000 | COL5A2 | c.2996G>C (p.Gly999Ala) c.1835G>C (p.Gly612Ala) c.2858G>C (p.Gly953Ala) | |
2 | g.189050612C>T | CA349867003 | COL5A2 | c.2996G>A (p.Gly999Glu) c.1835G>A (p.Gly612Glu) c.2858G>A (p.Gly953Glu) | gnomAD v4 |
2 | g.189050613C>A | CA349867008 | COL5A2 | c.2995G>T (p.Gly999Trp) c.1834G>T (p.Gly612Trp) c.2857G>T (p.Gly953Trp) | gnomAD v4 |
2 | g.189050613C>G | CA349867007 | COL5A2 | c.2995G>C (p.Gly999Arg) c.1834G>C (p.Gly612Arg) c.2857G>C (p.Gly953Arg) | |
2 | g.189050613C>T | CA349867005 | COL5A2 | c.2995G>A (p.Gly999Arg) c.1834G>A (p.Gly612Arg) c.2857G>A (p.Gly953Arg) | gnomAD v4 |
2 | g.189050614A= | CA1315425029 | COL5A2 | c.2994T= (p.Pro998=) c.1833T= (p.Pro611=) c.2856T= (p.Pro952=) | |
2 | g.189050614A>C | CA430322097 | COL5A2 | c.2994T>G (p.Pro998=) c.1833T>G (p.Pro611=) c.2856T>G (p.Pro952=) | dbSNP gnomAD v4 |
2 | g.189050614A>G | CA430322099 | COL5A2 | c.2994T>C (p.Pro998=) c.1833T>C (p.Pro611=) c.2856T>C (p.Pro952=) | |
2 | g.189050614A>T | CA430322107 | COL5A2 | c.2994T>A (p.Pro998=) c.1833T>A (p.Pro611=) c.2856T>A (p.Pro952=) | gnomAD v4 |
2 | g.189050615G>A | CA321093 | COL5A2 | c.2993C>T (p.Pro998Leu) c.1832C>T (p.Pro611Leu) c.2855C>T (p.Pro952Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.189050615G>C | CA349867011 | COL5A2 | c.2993C>G (p.Pro998Arg) c.1832C>G (p.Pro611Arg) c.2855C>G (p.Pro952Arg) | |
2 | g.189050615G= | CA1315425030 | COL5A2 | c.2993C= (p.Pro998=) c.1832C= (p.Pro611=) c.2855C= (p.Pro952=) | |
2 | g.189050615G>T | CA349867013 | COL5A2 | c.2993C>A (p.Pro998His) c.1832C>A (p.Pro611His) c.2855C>A (p.Pro952His) | gnomAD v4 |
2 | g.189050616G>A | CA62595049 | COL5A2 | c.2992C>T (p.Pro998Ser) c.1831C>T (p.Pro611Ser) c.2854C>T (p.Pro952Ser) | dbSNP gnomAD v4 |
2 | g.189050616G>C | CA349867016 | COL5A2 | c.2992C>G (p.Pro998Ala) c.1831C>G (p.Pro611Ala) c.2854C>G (p.Pro952Ala) | gnomAD v4 |
2 | g.189050616G= | CA1315425031 | COL5A2 | c.2992C= (p.Pro998=) c.1831C= (p.Pro611=) c.2854C= (p.Pro952=) | |
2 | g.189050616G>T | CA349867018 | COL5A2 | c.2992C>A (p.Pro998Thr) c.1831C>A (p.Pro611Thr) c.2854C>A (p.Pro952Thr) | gnomAD v4 |
2 | g.189050617C>A | CA349867020 | COL5A2 | c.2991G>T (p.Met997Ile) c.1830G>T (p.Met610Ile) c.2853G>T (p.Met951Ile) | gnomAD v4 |
2 | g.189050617C= | CA1315425032 | COL5A2 | c.2991G= (p.Met997=) c.1830G= (p.Met610=) c.2853G= (p.Met951=) | |
2 | g.189050617C>G | CA349867023 | COL5A2 | c.2991G>C (p.Met997Ile) c.1830G>C (p.Met610Ile) c.2853G>C (p.Met951Ile) | |
2 | g.189050617C>T | CA349867025 | COL5A2 | c.2991G>A (p.Met997Ile) c.1830G>A (p.Met610Ile) c.2853G>A (p.Met951Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050618A>C | CA349867028 | COL5A2 | c.2990T>G (p.Met997Arg) c.1829T>G (p.Met610Arg) c.2852T>G (p.Met951Arg) | |
2 | g.189050618A>G | CA349867029 | COL5A2 | c.2990T>C (p.Met997Thr) c.1829T>C (p.Met610Thr) c.2852T>C (p.Met951Thr) | gnomAD v4 |
2 | g.189050618A>T | CA349867030 | COL5A2 | c.2990T>A (p.Met997Lys) c.1829T>A (p.Met610Lys) c.2852T>A (p.Met951Lys) | |
2 | g.189050619T>A | CA349867037 | COL5A2 | c.2989A>T (p.Met997Leu) c.1828A>T (p.Met610Leu) c.2851A>T (p.Met951Leu) | dbSNP gnomAD v4 |
2 | g.189050619T>C | CA349867036 | COL5A2 | c.2989A>G (p.Met997Val) c.1828A>G (p.Met610Val) c.2851A>G (p.Met951Val) | |
2 | g.189050619T>G | CA349867033 | COL5A2 | c.2989A>C (p.Met997Leu) c.1828A>C (p.Met610Leu) c.2851A>C (p.Met951Leu) | dbSNP |
2 | g.189050619T= | CA1315425033 | COL5A2 | c.2989A= (p.Met997=) c.1828A= (p.Met610=) c.2851A= (p.Met951=) | |
2 | g.189050620G>A | CA2022141 | COL5A2 | c.2988C>T (p.Gly996=) c.1827C>T (p.Gly609=) c.2850C>T (p.Gly950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050620G>C | CA430322114 | COL5A2 | c.2988C>G (p.Gly996=) c.1827C>G (p.Gly609=) c.2850C>G (p.Gly950=) | gnomAD v4 |
2 | g.189050620G= | CA1315425034 | COL5A2 | c.2988C= (p.Gly996=) c.1827C= (p.Gly609=) c.2850C= (p.Gly950=) | |
2 | g.189050620G>T | CA430322115 | COL5A2 | c.2988C>A (p.Gly996=) c.1827C>A (p.Gly609=) c.2850C>A (p.Gly950=) | gnomAD v4 |
2 | g.189050621C>A | CA349867041 | COL5A2 | c.2987G>T (p.Gly996Val) c.1826G>T (p.Gly609Val) c.2849G>T (p.Gly950Val) | gnomAD v4 |
2 | g.189050621C= | CA1315425035 | COL5A2 | c.2987G= (p.Gly996=) c.1826G= (p.Gly609=) c.2849G= (p.Gly950=) | |
2 | g.189050621C>G | CA349867043 | COL5A2 | c.2987G>C (p.Gly996Ala) c.1826G>C (p.Gly609Ala) c.2849G>C (p.Gly950Ala) | |
2 | g.189050621C>T | CA349867046 | COL5A2 | c.2987G>A (p.Gly996Asp) c.1826G>A (p.Gly609Asp) c.2849G>A (p.Gly950Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189050622C>A | CA349867049 | COL5A2 | c.2986G>T (p.Gly996Cys) c.1825G>T (p.Gly609Cys) c.2848G>T (p.Gly950Cys) | gnomAD v4 |
2 | g.189050622C= | CA1315425036 | COL5A2 | c.2986G= (p.Gly996=) c.1825G= (p.Gly609=) c.2848G= (p.Gly950=) | |
2 | g.189050622C>G | CA349867051 | COL5A2 | c.2986G>C (p.Gly996Arg) c.1825G>C (p.Gly609Arg) c.2848G>C (p.Gly950Arg) | |
2 | g.189050622C>T | CA349867054 | COL5A2 | c.2986G>A (p.Gly996Ser) c.1825G>A (p.Gly609Ser) c.2848G>A (p.Gly950Ser) | dbSNP gnomAD v4 |
2 | g.189050625_189050627del | CA2662317778 | COL5A2 | c.2984_2986del (p.Val995del) c.1823_1825del (p.Val608del) c.2846_2848del (p.Val949del) | gnomAD v4 |
2 | g.189050623A>C | CA430322121 | COL5A2 | c.2985T>G (p.Val995=) c.1824T>G (p.Val608=) c.2847T>G (p.Val949=) | |
2 | g.189050623A>G | CA430322123 | COL5A2 | c.2985T>C (p.Val995=) c.1824T>C (p.Val608=) c.2847T>C (p.Val949=) | gnomAD v4 |
2 | g.189050623A>T | CA430322124 | COL5A2 | c.2985T>A (p.Val995=) c.1824T>A (p.Val608=) c.2847T>A (p.Val949=) | gnomAD v4 |
2 | g.189050624A>C | CA349867055 | COL5A2 | c.2984T>G (p.Val995Gly) c.1823T>G (p.Val608Gly) c.2846T>G (p.Val949Gly) | |
2 | g.189050624A>G | CA349867059 | COL5A2 | c.2984T>C (p.Val995Ala) c.1823T>C (p.Val608Ala) c.2846T>C (p.Val949Ala) | |
2 | g.189050624A>T | CA349867058 | COL5A2 | c.2984T>A (p.Val995Asp) c.1823T>A (p.Val608Asp) c.2846T>A (p.Val949Asp) | |
2 | g.189050625C>A | CA62595061 | COL5A2 | c.2983G>T (p.Val995Phe) c.1822G>T (p.Val608Phe) c.2845G>T (p.Val949Phe) | dbSNP gnomAD v4 |
2 | g.189050625C= | CA1315425037 | COL5A2 | c.2983G= (p.Val995=) c.1822G= (p.Val608=) c.2845G= (p.Val949=) | |
2 | g.189050625C>G | CA349867063 | COL5A2 | c.2983G>C (p.Val995Leu) c.1822G>C (p.Val608Leu) c.2845G>C (p.Val949Leu) | ClinVar |
2 | g.189050625C>T | CA349867064 | COL5A2 | c.2983G>A (p.Val995Ile) c.1822G>A (p.Val608Ile) c.2845G>A (p.Val949Ile) | gnomAD v4 |
2 | g.189050626A>C | CA349867065 | COL5A2 | c.2982T>G (p.Ile994Met) c.1821T>G (p.Ile607Met) c.2844T>G (p.Ile948Met) | |
2 | g.189050626A>G | CA430322133 | COL5A2 | c.2982T>C (p.Ile994=) c.1821T>C (p.Ile607=) c.2844T>C (p.Ile948=) | |
2 | g.189050626A>T | CA430322135 | COL5A2 | c.2982T>A (p.Ile994=) c.1821T>A (p.Ile607=) c.2844T>A (p.Ile948=) | gnomAD v4 |
2 | g.189050627A= | CA1315425038 | COL5A2 | c.2981T= (p.Ile994=) c.1820T= (p.Ile607=) c.2843T= (p.Ile948=) | |
2 | g.189050627A>C | CA349867067 | COL5A2 | c.2981T>G (p.Ile994Ser) c.1820T>G (p.Ile607Ser) c.2843T>G (p.Ile948Ser) | |
2 | g.189050627A>G | CA349867071 | COL5A2 | c.2981T>C (p.Ile994Thr) c.1820T>C (p.Ile607Thr) c.2843T>C (p.Ile948Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189050627A>T | CA349867070 | COL5A2 | c.2981T>A (p.Ile994Asn) c.1820T>A (p.Ile607Asn) c.2843T>A (p.Ile948Asn) | dbSNP gnomAD v4 |
2 | g.189050628T>A | CA349867074 | COL5A2 | c.2980A>T (p.Ile994Phe) c.1819A>T (p.Ile607Phe) c.2842A>T (p.Ile948Phe) | ClinVar gnomAD v4 |
2 | g.189050628T>C | CA349867076 | COL5A2 | c.2980A>G (p.Ile994Val) c.1819A>G (p.Ile607Val) c.2842A>G (p.Ile948Val) | gnomAD v4 |
2 | g.189050628T>G | CA62595066 | COL5A2 | c.2980A>C (p.Ile994Leu) c.1819A>C (p.Ile607Leu) c.2842A>C (p.Ile948Leu) | dbSNP |
2 | g.189050628T= | CA1315425039 | COL5A2 | c.2980A= (p.Ile994=) c.1819A= (p.Ile607=) c.2842A= (p.Ile948=) | |
2 | g.189050629T>A | CA430322140 | COL5A2 | c.2979A>T (p.Gly993=) c.1818A>T (p.Gly606=) c.2841A>T (p.Gly947=) | |
2 | g.189050629T>C | CA430322144 | COL5A2 | c.2979A>G (p.Gly993=) c.1818A>G (p.Gly606=) c.2841A>G (p.Gly947=) | gnomAD v4 |
2 | g.189050629T>G | CA430322142 | COL5A2 | c.2979A>C (p.Gly993=) c.1818A>C (p.Gly606=) c.2841A>C (p.Gly947=) | |
2 | g.189050630C>A | CA349867079 | COL5A2 | c.2978G>T (p.Gly993Val) c.1817G>T (p.Gly606Val) c.2840G>T (p.Gly947Val) | gnomAD v4 |
2 | g.189050630C>G | CA349867080 | COL5A2 | c.2978G>C (p.Gly993Ala) c.1817G>C (p.Gly606Ala) c.2840G>C (p.Gly947Ala) | |
2 | g.189050630C>T | CA349867082 | COL5A2 | c.2978G>A (p.Gly993Glu) c.1817G>A (p.Gly606Glu) c.2840G>A (p.Gly947Glu) | gnomAD v4 |
2 | g.189050631C>A | CA349867084 | COL5A2 | c.2977G>T (p.Gly993Ter) c.1816G>T (p.Gly606Ter) c.2839G>T (p.Gly947Ter) | gnomAD v4 |
2 | g.189050631C>G | CA349867085 | COL5A2 | c.2977G>C (p.Gly993Arg) c.1816G>C (p.Gly606Arg) c.2839G>C (p.Gly947Arg) | |
2 | g.189050631C>T | CA349867086 | COL5A2 | c.2977G>A (p.Gly993Arg) c.1816G>A (p.Gly606Arg) c.2839G>A (p.Gly947Arg) | |
2 | g.189050632T>A | CA349867088 | COL5A2 | c.2976A>T (p.Arg992Ser) c.1815A>T (p.Arg605Ser) c.2838A>T (p.Arg946Ser) | |
2 | g.189050632T>C | CA430322152 | COL5A2 | c.2976A>G (p.Arg992=) c.1815A>G (p.Arg605=) c.2838A>G (p.Arg946=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189050632T>G | CA349867090 | COL5A2 | c.2976A>C (p.Arg992Ser) c.1815A>C (p.Arg605Ser) c.2838A>C (p.Arg946Ser) | |
2 | g.189050632T= | CA1315425040 | COL5A2 | c.2976A= (p.Arg992=) c.1815A= (p.Arg605=) c.2838A= (p.Arg946=) | |
2 | g.189050633C>A | CA349867093 | COL5A2 | c.2975G>T (p.Arg992Ile) c.1814G>T (p.Arg605Ile) c.2837G>T (p.Arg946Ile) | gnomAD v4 |
2 | g.189050633C>G | CA349867094 | COL5A2 | c.2975G>C (p.Arg992Thr) c.1814G>C (p.Arg605Thr) c.2837G>C (p.Arg946Thr) | |
2 | g.189050633C>T | CA349867091 | COL5A2 | c.2975G>A (p.Arg992Lys) c.1814G>A (p.Arg605Lys) c.2837G>A (p.Arg946Lys) | gnomAD v4 |
2 | g.189050634T>A | CA349867098 | COL5A2 | c.2974A>T (p.Arg992Ter) c.1813A>T (p.Arg605Ter) c.2836A>T (p.Arg946Ter) | gnomAD v4 |
2 | g.189050634T>C | CA349867096 | COL5A2 | c.2974A>G (p.Arg992Gly) c.1813A>G (p.Arg605Gly) c.2836A>G (p.Arg946Gly) | gnomAD v4 |
2 | g.189050634T>G | CA430322158 | COL5A2 | c.2974A>C (p.Arg992=) c.1813A>C (p.Arg605=) c.2836A>C (p.Arg946=) | |
2 | g.189050635C>A | CA349867099 | COL5A2 | c.2973G>T (p.Gln991His) c.1812G>T (p.Gln604His) c.2835G>T (p.Gln945His) | gnomAD v4 |
2 | g.189050635C>G | CA349867100 | COL5A2 | c.2973G>C (p.Gln991His) c.1812G>C (p.Gln604His) c.2835G>C (p.Gln945His) | |
2 | g.189050635C>T | CA430322163 | COL5A2 | c.2973G>A (p.Gln991=) c.1812G>A (p.Gln604=) c.2835G>A (p.Gln945=) | gnomAD v4 |
2 | g.189050636T>A | CA349867103 | COL5A2 | c.2972A>T (p.Gln991Leu) c.1811A>T (p.Gln604Leu) c.2834A>T (p.Gln945Leu) | |
2 | g.189050636T>C | CA349867104 | COL5A2 | c.2972A>G (p.Gln991Arg) c.1811A>G (p.Gln604Arg) c.2834A>G (p.Gln945Arg) | gnomAD v4 |
2 | g.189050636T>G | CA349867105 | COL5A2 | c.2972A>C (p.Gln991Pro) c.1811A>C (p.Gln604Pro) c.2834A>C (p.Gln945Pro) | |
2 | g.189050637G>A | CA349867107 | COL5A2 | c.2971C>T (p.Gln991Ter) c.1810C>T (p.Gln604Ter) c.2833C>T (p.Gln945Ter) | gnomAD v4 |
2 | g.189050637G>C | CA349867109 | COL5A2 | c.2971C>G (p.Gln991Glu) c.1810C>G (p.Gln604Glu) c.2833C>G (p.Gln945Glu) | gnomAD v4 |
2 | g.189050637G>T | CA349867111 | COL5A2 | c.2971C>A (p.Gln991Lys) c.1810C>A (p.Gln604Lys) c.2833C>A (p.Gln945Lys) | gnomAD v4 |
2 | g.189050638C>A | CA430322166 | COL5A2 | c.2970G>T (p.Gly990=) c.1809G>T (p.Gly603=) c.2832G>T (p.Gly944=) | ClinVar dbSNP gnomAD v4 |
2 | g.189050638C= | CA1315425041 | COL5A2 | c.2970G= (p.Gly990=) c.1809G= (p.Gly603=) c.2832G= (p.Gly944=) | |
2 | g.189050638C>G | CA62595075 | COL5A2 | c.2970G>C (p.Gly990=) c.1809G>C (p.Gly603=) c.2832G>C (p.Gly944=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050638C>T | CA430322168 | COL5A2 | c.2970G>A (p.Gly990=) c.1809G>A (p.Gly603=) c.2832G>A (p.Gly944=) | ClinVar dbSNP gnomAD v4 |
2 | g.189050639C>A | CA349867112 | COL5A2 | c.2969G>T (p.Gly990Val) c.1808G>T (p.Gly603Val) c.2831G>T (p.Gly944Val) | gnomAD v4 |
2 | g.189050639C= | CA1315425042 | COL5A2 | c.2969G= (p.Gly990=) c.1808G= (p.Gly603=) c.2831G= (p.Gly944=) | |
2 | g.189050639C>G | CA349867114 | COL5A2 | c.2969G>C (p.Gly990Ala) c.1808G>C (p.Gly603Ala) c.2831G>C (p.Gly944Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189050639C>T | CA349867115 | COL5A2 | c.2969G>A (p.Gly990Glu) c.1808G>A (p.Gly603Glu) c.2831G>A (p.Gly944Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189050640C>A | CA349867120 | COL5A2 | c.2968G>T (p.Gly990Trp) c.1807G>T (p.Gly603Trp) c.2830G>T (p.Gly944Trp) | gnomAD v4 |
2 | g.189050640C= | CA1315425043 | COL5A2 | c.2968G= (p.Gly990=) c.1807G= (p.Gly603=) c.2830G= (p.Gly944=) | |
2 | g.189050640C>G | CA349867118 | COL5A2 | c.2968G>C (p.Gly990Arg) c.1807G>C (p.Gly603Arg) c.2830G>C (p.Gly944Arg) | |
2 | g.189050640C>T | CA16617397 | COL5A2 | c.2968G>A (p.Gly990Arg) c.1807G>A (p.Gly603Arg) c.2830G>A (p.Gly944Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189050641G>A | CA2022142 | COL5A2 | c.2967C>T (p.Thr989=) c.1806C>T (p.Thr602=) c.2829C>T (p.Thr943=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050641G>C | CA430322177 | COL5A2 | c.2967C>G (p.Thr989=) c.1806C>G (p.Thr602=) c.2829C>G (p.Thr943=) | |
2 | g.189050641G= | CA1315425044 | COL5A2 | c.2967C= (p.Thr989=) c.1806C= (p.Thr602=) c.2829C= (p.Thr943=) | |
2 | g.189050641G>T | CA430322178 | COL5A2 | c.2967C>A (p.Thr989=) c.1806C>A (p.Thr602=) c.2829C>A (p.Thr943=) | gnomAD v4 |
2 | g.189050642G>A | CA349867122 | COL5A2 | c.2966C>T (p.Thr989Ile) c.1805C>T (p.Thr602Ile) c.2828C>T (p.Thr943Ile) | gnomAD v4 |
2 | g.189050642G>C | CA349867124 | COL5A2 | c.2966C>G (p.Thr989Ser) c.1805C>G (p.Thr602Ser) c.2828C>G (p.Thr943Ser) | |
2 | g.189050642G>T | CA349867126 | COL5A2 | c.2966C>A (p.Thr989Asn) c.1805C>A (p.Thr602Asn) c.2828C>A (p.Thr943Asn) | gnomAD v4 |
2 | g.189050643T>A | CA349867128 | COL5A2 | c.2965A>T (p.Thr989Ser) c.1804A>T (p.Thr602Ser) c.2827A>T (p.Thr943Ser) | gnomAD v4 |
2 | g.189050643T>C | CA349867130 | COL5A2 | c.2965A>G (p.Thr989Ala) c.1804A>G (p.Thr602Ala) c.2827A>G (p.Thr943Ala) | |
2 | g.189050643T>G | CA349867132 | COL5A2 | c.2965A>C (p.Thr989Pro) c.1804A>C (p.Thr602Pro) c.2827A>C (p.Thr943Pro) | |
2 | g.189050644C>A | CA430322185 | COL5A2 | c.2964G>T (p.Thr988=) c.1803G>T (p.Thr601=) c.2826G>T (p.Thr942=) | gnomAD v4 |
2 | g.189050644C= | CA1315425045 | COL5A2 | c.2964G= (p.Thr988=) c.1803G= (p.Thr601=) c.2826G= (p.Thr942=) | |
2 | g.189050644C>G | CA430322186 | COL5A2 | c.2964G>C (p.Thr988=) c.1803G>C (p.Thr601=) c.2826G>C (p.Thr942=) | |
2 | g.189050644C>T | CA16610653 | COL5A2 | c.2964G>A (p.Thr988=) c.1803G>A (p.Thr601=) c.2826G>A (p.Thr942=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050645G>A | CA324402 | COL5A2 | c.2963C>T (p.Thr988Met) c.1802C>T (p.Thr601Met) c.2825C>T (p.Thr942Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050645G>C | CA349867134 | COL5A2 | c.2963C>G (p.Thr988Arg) c.1802C>G (p.Thr601Arg) c.2825C>G (p.Thr942Arg) | |
2 | g.189050645G= | CA1315425046 | COL5A2 | c.2963C= (p.Thr988=) c.1802C= (p.Thr601=) c.2825C= (p.Thr942=) | |
2 | g.189050645G>T | CA349867136 | COL5A2 | c.2963C>A (p.Thr988Lys) c.1802C>A (p.Thr601Lys) c.2825C>A (p.Thr942Lys) | dbSNP COSMIC |
2 | g.189050646T>A | CA349867138 | COL5A2 | c.2962A>T (p.Thr988Ser) c.1801A>T (p.Thr601Ser) c.2824A>T (p.Thr942Ser) | |
2 | g.189050646T>C | CA349867140 | COL5A2 | c.2962A>G (p.Thr988Ala) c.1801A>G (p.Thr601Ala) c.2824A>G (p.Thr942Ala) | gnomAD v4 |
2 | g.189050646T>G | CA349867141 | COL5A2 | c.2962A>C (p.Thr988Pro) c.1801A>C (p.Thr601Pro) c.2824A>C (p.Thr942Pro) | |
2 | g.189050647T>A | CA430322195 | COL5A2 | c.2961A>T (p.Gly987=) c.1800A>T (p.Gly600=) c.2823A>T (p.Gly941=) | |
2 | g.189050647T>C | CA430322197 | COL5A2 | c.2961A>G (p.Gly987=) c.1800A>G (p.Gly600=) c.2823A>G (p.Gly941=) | gnomAD v4 |
2 | g.189050647T>G | CA430322199 | COL5A2 | c.2961A>C (p.Gly987=) c.1800A>C (p.Gly600=) c.2823A>C (p.Gly941=) | |
2 | g.189050648C>A | CA349867146 | COL5A2 | c.2960G>T (p.Gly987Val) c.1799G>T (p.Gly600Val) c.2822G>T (p.Gly941Val) | gnomAD v4 |
2 | g.189050648C= | CA1315425047 | COL5A2 | c.2960G= (p.Gly987=) c.1799G= (p.Gly600=) c.2822G= (p.Gly941=) | |
2 | g.189050648C>G | CA349867147 | COL5A2 | c.2960G>C (p.Gly987Ala) c.1799G>C (p.Gly600Ala) c.2822G>C (p.Gly941Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189050648C>T | CA349867144 | COL5A2 | c.2960G>A (p.Gly987Glu) c.1799G>A (p.Gly600Glu) c.2822G>A (p.Gly941Glu) | gnomAD v4 |
2 | g.189050649C>A | CA349867150 | COL5A2 | c.2959G>T (p.Gly987Ter) c.1798G>T (p.Gly600Ter) c.2821G>T (p.Gly941Ter) | gnomAD v4 |
2 | g.189050649C>G | CA349867151 | COL5A2 | c.2959G>C (p.Gly987Arg) c.1798G>C (p.Gly600Arg) c.2821G>C (p.Gly941Arg) | gnomAD v4 |
2 | g.189050649C>T | CA349867152 | COL5A2 | c.2959G>A (p.Gly987Arg) c.1798G>A (p.Gly600Arg) c.2821G>A (p.Gly941Arg) | gnomAD v4 |
2 | g.189050650A>C | CA430322209 | COL5A2 | c.2958T>G (p.Ala986=) c.1797T>G (p.Ala599=) c.2820T>G (p.Ala940=) | |
2 | g.189050650A>G | CA430322207 | COL5A2 | c.2958T>C (p.Ala986=) c.1797T>C (p.Ala599=) c.2820T>C (p.Ala940=) | gnomAD v4 |
2 | g.189050650A>T | CA430322206 | COL5A2 | c.2958T>A (p.Ala986=) c.1797T>A (p.Ala599=) c.2820T>A (p.Ala940=) | gnomAD v4 |
2 | g.189050651G>A | CA349867154 | COL5A2 | c.2957C>T (p.Ala986Val) c.1796C>T (p.Ala599Val) c.2819C>T (p.Ala940Val) | gnomAD v4 |
2 | g.189050651G>C | CA349867156 | COL5A2 | c.2957C>G (p.Ala986Gly) c.1796C>G (p.Ala599Gly) c.2819C>G (p.Ala940Gly) | |
2 | g.189050651G>T | CA349867157 | COL5A2 | c.2957C>A (p.Ala986Asp) c.1796C>A (p.Ala599Asp) c.2819C>A (p.Ala940Asp) | gnomAD v4 |
2 | g.189050652C>A | CA349867161 | COL5A2 | c.2956G>T (p.Ala986Ser) c.1795G>T (p.Ala599Ser) c.2818G>T (p.Ala940Ser) | gnomAD v4 |
2 | g.189050652C>G | CA349867158 | COL5A2 | c.2956G>C (p.Ala986Pro) c.1795G>C (p.Ala599Pro) c.2818G>C (p.Ala940Pro) | |
2 | g.189050652C>T | CA349867159 | COL5A2 | c.2956G>A (p.Ala986Thr) c.1795G>A (p.Ala599Thr) c.2818G>A (p.Ala940Thr) | gnomAD v4 |
2 | g.189050653T>A | CA430322220 | COL5A2 | c.2955A>T (p.Pro985=) c.1794A>T (p.Pro598=) c.2817A>T (p.Pro939=) | gnomAD v4 |
2 | g.189050653T>C | CA430322218 | COL5A2 | c.2955A>G (p.Pro985=) c.1794A>G (p.Pro598=) c.2817A>G (p.Pro939=) | ClinVar dbSNP gnomAD v4 |
2 | g.189050653T>G | CA430322216 | COL5A2 | c.2955A>C (p.Pro985=) c.1794A>C (p.Pro598=) c.2817A>C (p.Pro939=) | |
2 | g.189050653T= | CA1315425048 | COL5A2 | c.2955A= (p.Pro985=) c.1794A= (p.Pro598=) c.2817A= (p.Pro939=) | |
2 | g.189050654G>A | CA349867162 | COL5A2 | c.2954C>T (p.Pro985Leu) c.1793C>T (p.Pro598Leu) c.2816C>T (p.Pro939Leu) | gnomAD v4 |
2 | g.189050654G>C | CA349867165 | COL5A2 | c.2954C>G (p.Pro985Arg) c.1793C>G (p.Pro598Arg) c.2816C>G (p.Pro939Arg) | |
2 | g.189050654G>T | CA349867166 | COL5A2 | c.2954C>A (p.Pro985Gln) c.1793C>A (p.Pro598Gln) c.2816C>A (p.Pro939Gln) | gnomAD v4 COSMIC |
2 | g.189050655G>A | CA349867167 | COL5A2 | c.2953C>T (p.Pro985Ser) c.1792C>T (p.Pro598Ser) c.2815C>T (p.Pro939Ser) | gnomAD v4 |
2 | g.189050655G>C | CA349867168 | COL5A2 | c.2953C>G (p.Pro985Ala) c.1792C>G (p.Pro598Ala) c.2815C>G (p.Pro939Ala) | gnomAD v4 |
2 | g.189050655G>T | CA349867170 | COL5A2 | c.2953C>A (p.Pro985Thr) c.1792C>A (p.Pro598Thr) c.2815C>A (p.Pro939Thr) | gnomAD v4 |
2 | g.189050656A>C | CA430322228 | COL5A2 | c.2952T>G (p.Gly984=) c.1791T>G (p.Gly597=) c.2814T>G (p.Gly938=) | |
2 | g.189050656A>G | CA430322230 | COL5A2 | c.2952T>C (p.Gly984=) c.1791T>C (p.Gly597=) c.2814T>C (p.Gly938=) | gnomAD v4 |
2 | g.189050656A>T | CA430322229 | COL5A2 | c.2952T>A (p.Gly984=) c.1791T>A (p.Gly597=) c.2814T>A (p.Gly938=) | |
2 | g.189050657C>A | CA349867172 | COL5A2 | c.2951G>T (p.Gly984Val) c.1790G>T (p.Gly597Val) c.2813G>T (p.Gly938Val) | gnomAD v4 |
2 | g.189050657C>G | CA349867175 | COL5A2 | c.2951G>C (p.Gly984Ala) c.1790G>C (p.Gly597Ala) c.2813G>C (p.Gly938Ala) | gnomAD v4 |
2 | g.189050657C>T | CA349867174 | COL5A2 | c.2951G>A (p.Gly984Asp) c.1790G>A (p.Gly597Asp) c.2813G>A (p.Gly938Asp) | gnomAD v4 |
2 | g.189050658C>A | CA349867177 | COL5A2 | c.2950G>T (p.Gly984Cys) c.1789G>T (p.Gly597Cys) c.2812G>T (p.Gly938Cys) | gnomAD v4 |
2 | g.189050658C= | CA1315425049 | COL5A2 | c.2950G= (p.Gly984=) c.1789G= (p.Gly597=) c.2812G= (p.Gly938=) | |
2 | g.189050658C>G | CA349867178 | COL5A2 | c.2950G>C (p.Gly984Arg) c.1789G>C (p.Gly597Arg) c.2812G>C (p.Gly938Arg) | ClinVar dbSNP |
2 | g.189050658C>T | CA349867180 | COL5A2 | c.2950G>A (p.Gly984Ser) c.1789G>A (p.Gly597Ser) c.2812G>A (p.Gly938Ser) | gnomAD v4 |
2 | g.189050659del | CA2662317779 | COL5A2 | c.2949del (p.Gly984ValfsTer?) c.1788del (p.Gly597ValfsTer?) c.2811del (p.Gly938ValfsTer?) | gnomAD v4 |
2 | g.189050659A>C | CA430322231 | COL5A2 | c.2949T>G (p.Pro983=) c.1788T>G (p.Pro596=) c.2811T>G (p.Pro937=) | |
2 | g.189050659A>G | CA430322232 | COL5A2 | c.2949T>C (p.Pro983=) c.1788T>C (p.Pro596=) c.2811T>C (p.Pro937=) | gnomAD v4 |
2 | g.189050659A>T | CA430322233 | COL5A2 | c.2949T>A (p.Pro983=) c.1788T>A (p.Pro596=) c.2811T>A (p.Pro937=) | gnomAD v4 |
2 | g.189050660G>A | CA349867182 | COL5A2 | c.2948C>T (p.Pro983Leu) c.1787C>T (p.Pro596Leu) c.2810C>T (p.Pro937Leu) | gnomAD v4 |
2 | g.189050660G>C | CA349867183 | COL5A2 | c.2948C>G (p.Pro983Arg) c.1787C>G (p.Pro596Arg) c.2810C>G (p.Pro937Arg) | |
2 | g.189050660G>T | CA349867184 | COL5A2 | c.2948C>A (p.Pro983His) c.1787C>A (p.Pro596His) c.2810C>A (p.Pro937His) | gnomAD v4 |
2 | g.189050665dup | CA538451968 | COL5A2 | c.2948dup (p.Gly984TrpfsTer?) c.1787dup (p.Gly597TrpfsTer?) c.2810dup (p.Gly938TrpfsTer?) | gnomAD v2 gnomAD v4 |
2 | g.189050665del | CA538451967 | COL5A2 | c.2948del (p.Pro983LeufsTer?) c.1787del (p.Pro596LeufsTer?) c.2810del (p.Pro937LeufsTer?) | gnomAD v2 gnomAD v4 COSMIC |
2 | g.189050661G>A | CA324357 | COL5A2 | c.2947C>T (p.Pro983Ser) c.1786C>T (p.Pro596Ser) c.2809C>T (p.Pro937Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050661G>C | CA349867186 | COL5A2 | c.2947C>G (p.Pro983Ala) c.1786C>G (p.Pro596Ala) c.2809C>G (p.Pro937Ala) | |
2 | g.189050661G= | CA1315425050 | COL5A2 | c.2947C= (p.Pro983=) c.1786C= (p.Pro596=) c.2809C= (p.Pro937=) | |
2 | g.189050661G>T | CA349867187 | COL5A2 | c.2947C>A (p.Pro983Thr) c.1786C>A (p.Pro596Thr) c.2809C>A (p.Pro937Thr) | gnomAD v4 |
2 | g.189050662G>A | CA430322239 | COL5A2 | c.2946C>T (p.Pro982=) c.1785C>T (p.Pro595=) c.2808C>T (p.Pro936=) | gnomAD v4 COSMIC |
2 | g.189050662G>C | CA430322240 | COL5A2 | c.2946C>G (p.Pro982=) c.1785C>G (p.Pro595=) c.2808C>G (p.Pro936=) | |
2 | g.189050662G>T | CA430322242 | COL5A2 | c.2946C>A (p.Pro982=) c.1785C>A (p.Pro595=) c.2808C>A (p.Pro936=) | |
2 | g.189050663G>A | CA349867189 | COL5A2 | c.2945C>T (p.Pro982Leu) c.1784C>T (p.Pro595Leu) c.2807C>T (p.Pro936Leu) | gnomAD v4 |
2 | g.189050663G>C | CA349867191 | COL5A2 | c.2945C>G (p.Pro982Arg) c.1784C>G (p.Pro595Arg) c.2807C>G (p.Pro936Arg) | gnomAD v4 |
2 | g.189050663G= | CA1315425051 | COL5A2 | c.2945C= (p.Pro982=) c.1784C= (p.Pro595=) c.2807C= (p.Pro936=) | |
2 | g.189050663G>T | CA349867192 | COL5A2 | c.2945C>A (p.Pro982His) c.1784C>A (p.Pro595His) c.2807C>A (p.Pro936His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189050664G>A | CA349867194 | COL5A2 | c.2944C>T (p.Pro982Ser) c.1783C>T (p.Pro595Ser) c.2806C>T (p.Pro936Ser) | gnomAD v4 |
2 | g.189050664G>C | CA349867197 | COL5A2 | c.2944C>G (p.Pro982Ala) c.1783C>G (p.Pro595Ala) c.2806C>G (p.Pro936Ala) | |
2 | g.189050664G>T | CA349867195 | COL5A2 | c.2944C>A (p.Pro982Thr) c.1783C>A (p.Pro595Thr) c.2806C>A (p.Pro936Thr) | gnomAD v4 |
2 | g.189050664_189050666dup | CA2662317780 | COL5A2 | c.2942_2944dup (p.Gly981_Pro982insArg) c.1781_1783dup (p.Gly594_Pro595insArg) c.2804_2806dup (p.Gly935_Pro936insArg) | gnomAD v4 |
2 | g.189050665G>A | CA2022143 | COL5A2 | c.2943C>T (p.Gly981=) c.1782C>T (p.Gly594=) c.2805C>T (p.Gly935=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189050665G>C | CA430322248 | COL5A2 | c.2943C>G (p.Gly981=) c.1782C>G (p.Gly594=) c.2805C>G (p.Gly935=) | |
2 | g.189050665G= | CA1315425052 | COL5A2 | c.2943C= (p.Gly981=) c.1782C= (p.Gly594=) c.2805C= (p.Gly935=) | |
2 | g.189050665G>T | CA430322250 | COL5A2 | c.2943C>A (p.Gly981=) c.1782C>A (p.Gly594=) c.2805C>A (p.Gly935=) | gnomAD v4 |
2 | g.189050666C>A | CA349867202 | COL5A2 | c.2942G>T (p.Gly981Val) c.1781G>T (p.Gly594Val) c.2804G>T (p.Gly935Val) | |
2 | g.189050666C>G | CA349867200 | COL5A2 | c.2942G>C (p.Gly981Ala) c.1781G>C (p.Gly594Ala) c.2804G>C (p.Gly935Ala) | |
2 | g.189050666C>T | CA349867204 | COL5A2 | c.2942G>A (p.Gly981Asp) c.1781G>A (p.Gly594Asp) c.2804G>A (p.Gly935Asp) | gnomAD v4 |
2 | g.189050667C>A | CA349867205 | COL5A2 | c.2941G>T (p.Gly981Cys) c.1780G>T (p.Gly594Cys) c.2803G>T (p.Gly935Cys) | gnomAD v4 |
2 | g.189050667C>G | CA349867207 | COL5A2 | c.2941G>C (p.Gly981Arg) c.1780G>C (p.Gly594Arg) c.2803G>C (p.Gly935Arg) | |
2 | g.189050667C>T | CA349867206 | COL5A2 | c.2941G>A (p.Gly981Ser) c.1780G>A (p.Gly594Ser) c.2803G>A (p.Gly935Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.189050668A= | CA1315425053 | COL5A2 | c.2940T= (p.Asp980=) c.1779T= (p.Asp593=) c.2802T= (p.Asp934=) | |
2 | g.189050668A>C | CA349867208 | COL5A2 | c.2940T>G (p.Asp980Glu) c.1779T>G (p.Asp593Glu) c.2802T>G (p.Asp934Glu) | |
2 | g.189050668A>G | CA430322255 | COL5A2 | c.2940T>C (p.Asp980=) c.1779T>C (p.Asp593=) c.2802T>C (p.Asp934=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189050668A>T | CA349867209 | COL5A2 | c.2940T>A (p.Asp980Glu) c.1779T>A (p.Asp593Glu) c.2802T>A (p.Asp934Glu) | gnomAD v4 |
2 | g.189050669T>A | CA349867210 | COL5A2 | c.2939A>T (p.Asp980Val) c.1778A>T (p.Asp593Val) c.2801A>T (p.Asp934Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050669T>C | CA349867211 | COL5A2 | c.2939A>G (p.Asp980Gly) c.1778A>G (p.Asp593Gly) c.2801A>G (p.Asp934Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050669T>G | CA349867213 | COL5A2 | c.2939A>C (p.Asp980Ala) c.1778A>C (p.Asp593Ala) c.2801A>C (p.Asp934Ala) | |
2 | g.189050669T= | CA1315425054 | COL5A2 | c.2939A= (p.Asp980=) c.1778A= (p.Asp593=) c.2801A= (p.Asp934=) | |
2 | g.189050670C>A | CA349867214 | COL5A2 | c.2938G>T (p.Asp980Tyr) c.1777G>T (p.Asp593Tyr) c.2800G>T (p.Asp934Tyr) | gnomAD v4 |
2 | g.189050670C= | CA1315425055 | COL5A2 | c.2938G= (p.Asp980=) c.1777G= (p.Asp593=) c.2800G= (p.Asp934=) | |
2 | g.189050670C>G | CA349867215 | COL5A2 | c.2938G>C (p.Asp980His) c.1777G>C (p.Asp593His) c.2800G>C (p.Asp934His) | dbSNP |
2 | g.189050670C>T | CA349867222 | COL5A2 | c.2938G>A (p.Asp980Asn) c.1777G>A (p.Asp593Asn) c.2800G>A (p.Asp934Asn) | dbSNP gnomAD v4 |
2 | g.189050671T>A | CA430322264 | COL5A2 | c.2937A>T (p.Pro979=) c.1776A>T (p.Pro592=) c.2799A>T (p.Pro933=) | |
2 | g.189050671T>C | CA430322266 | COL5A2 | c.2937A>G (p.Pro979=) c.1776A>G (p.Pro592=) c.2799A>G (p.Pro933=) | gnomAD v4 |
2 | g.189050671T>G | CA430322268 | COL5A2 | c.2937A>C (p.Pro979=) c.1776A>C (p.Pro592=) c.2799A>C (p.Pro933=) | |
2 | g.189050672G>A | CA349867223 | COL5A2 | c.2936C>T (p.Pro979Leu) c.1775C>T (p.Pro592Leu) c.2798C>T (p.Pro933Leu) | gnomAD v4 |
2 | g.189050672G>C | CA349867225 | COL5A2 | c.2936C>G (p.Pro979Arg) c.1775C>G (p.Pro592Arg) c.2798C>G (p.Pro933Arg) | |
2 | g.189050672G>T | CA349867227 | COL5A2 | c.2936C>A (p.Pro979Gln) c.1775C>A (p.Pro592Gln) c.2798C>A (p.Pro933Gln) | gnomAD v4 |
2 | g.189050673G>A | CA349867230 | COL5A2 | c.2935C>T (p.Pro979Ser) c.1774C>T (p.Pro592Ser) c.2797C>T (p.Pro933Ser) | |
2 | g.189050673G>C | CA349867229 | COL5A2 | c.2935C>G (p.Pro979Ala) c.1774C>G (p.Pro592Ala) c.2797C>G (p.Pro933Ala) | dbSNP gnomAD v2 |
2 | g.189050673G= | CA1315425056 | COL5A2 | c.2935C= (p.Pro979=) c.1774C= (p.Pro592=) c.2797C= (p.Pro933=) | |
2 | g.189050673G>T | CA349867228 | COL5A2 | c.2935C>A (p.Pro979Thr) c.1774C>A (p.Pro592Thr) c.2797C>A (p.Pro933Thr) | gnomAD v4 |
2 | g.189050674A>C | CA430322271 | COL5A2 | c.2934T>G (p.Gly978=) c.1773T>G (p.Gly591=) c.2796T>G (p.Gly932=) | |
2 | g.189050674A>G | CA430322273 | COL5A2 | c.2934T>C (p.Gly978=) c.1773T>C (p.Gly591=) c.2796T>C (p.Gly932=) | |
2 | g.189050674A>T | CA430322274 | COL5A2 | c.2934T>A (p.Gly978=) c.1773T>A (p.Gly591=) c.2796T>A (p.Gly932=) | gnomAD v4 |
2 | g.189050675C>A | CA349867231 | COL5A2 | c.2933G>T (p.Gly978Val) c.1772G>T (p.Gly591Val) c.2795G>T (p.Gly932Val) | gnomAD v4 |
2 | g.189050675C>G | CA349867232 | COL5A2 | c.2933G>C (p.Gly978Ala) c.1772G>C (p.Gly591Ala) c.2795G>C (p.Gly932Ala) | |
2 | g.189050675C>T | CA349867233 | COL5A2 | c.2933G>A (p.Gly978Asp) c.1772G>A (p.Gly591Asp) c.2795G>A (p.Gly932Asp) | gnomAD v4 |
2 | g.189050676C>A | CA349867234 | COL5A2 | c.2932G>T (p.Gly978Cys) c.1771G>T (p.Gly591Cys) c.2794G>T (p.Gly932Cys) | |
2 | g.189050676C>G | CA349867236 | COL5A2 | c.2932G>C (p.Gly978Arg) c.1771G>C (p.Gly591Arg) c.2794G>C (p.Gly932Arg) | ClinVar dbSNP |
2 | g.189050676C>T | CA349867238 | COL5A2 | c.2932G>A (p.Gly978Ser) c.1771G>A (p.Gly591Ser) c.2794G>A (p.Gly932Ser) | gnomAD v4 |
2 | g.189050676_189050677insAGGTTGCCCATCTTCTCCTGGGTCCCCTTTGTCTCCTGGGCCACCAGGGGGGCCAGCTGGTCCTCGATCTCCCACACG | CA2753575561 | COL5A2 | c.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT (n.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT) c.1771-1_1771insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT (n.1771-1_1771insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT) c.2794-1_2794insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT (n.2794-1_2794insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT) | |
2 | g.189050677C>A | CA349867239 | COL5A2 | c.2932-1G>T (n.2932-1G>T) c.1771-1G>T (n.1771-1G>T) c.2794-1G>T (n.2794-1G>T) | gnomAD v4 |
2 | g.189050677C>G | CA349867241 | COL5A2 | c.2932-1G>C (n.2932-1G>C) c.1771-1G>C (n.1771-1G>C) c.2794-1G>C (n.2794-1G>C) | |
2 | g.189050677C>T | CA349867243 | COL5A2 | c.2932-1G>A (n.2932-1G>A) c.1771-1G>A (n.1771-1G>A) c.2794-1G>A (n.2794-1G>A) | gnomAD v4 |
2 | g.189050678T>A | CA349867244 | COL5A2 | c.2932-2A>T (n.2932-2A>T) c.1771-2A>T (n.1771-2A>T) c.2794-2A>T (n.2794-2A>T) | |
2 | g.189050678T>C | CA62595101 | COL5A2 | c.2932-2A>G (n.2932-2A>G) c.1771-2A>G (n.1771-2A>G) c.2794-2A>G (n.2794-2A>G) | dbSNP gnomAD v4 |
2 | g.189050678T>G | CA349867245 | COL5A2 | c.2932-2A>C (n.2932-2A>C) c.1771-2A>C (n.1771-2A>C) c.2794-2A>C (n.2794-2A>C) | |
2 | g.189050678T= | CA1315425057 | COL5A2 | c.2932-2A= (n.2932-2A=) c.1771-2A= (n.1771-2A=) c.2794-2A= (n.2794-2A=) | |
2 | g.189050679A>C | CA2662317781 | COL5A2 | c.2932-3T>G (n.2932-3T>G) c.1771-3T>G (n.1771-3T>G) c.2794-3T>G (n.2794-3T>G) | gnomAD v4 |
2 | g.189050679A>G | CA2662317782 | COL5A2 | c.2932-3T>C (n.2932-3T>C) c.1771-3T>C (n.1771-3T>C) c.2794-3T>C (n.2794-3T>C) | gnomAD v4 |
2 | g.189050680A>G | CA2662317783 | COL5A2 | c.2932-4T>C (n.2932-4T>C) c.1771-4T>C (n.1771-4T>C) c.2794-4T>C (n.2794-4T>C) | gnomAD v4 |
2 | g.189050681T>A | CA2662317784 | COL5A2 | c.2932-5A>T (n.2932-5A>T) c.1771-5A>T (n.1771-5A>T) c.2794-5A>T (n.2794-5A>T) | gnomAD v4 |
2 | g.189050681T>C | CA62595107 | COL5A2 | c.2932-5A>G (n.2932-5A>G) c.1771-5A>G (n.1771-5A>G) c.2794-5A>G (n.2794-5A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189050681T>G | CA2662317785 | COL5A2 | c.2932-5A>C (n.2932-5A>C) c.1771-5A>C (n.1771-5A>C) c.2794-5A>C (n.2794-5A>C) | gnomAD v4 |
2 | g.189050681T= | CA1315425058 | COL5A2 | c.2932-5A= (n.2932-5A=) c.1771-5A= (n.1771-5A=) c.2794-5A= (n.2794-5A=) | |
2 | g.189050682G>T | CA2662317786 | COL5A2 | c.2932-6C>A (n.2932-6C>A) c.1771-6C>A (n.1771-6C>A) c.2794-6C>A (n.2794-6C>A) | gnomAD v4 |
2 | g.189050683T>A | CA2662317787 | COL5A2 | c.2932-7A>T (n.2932-7A>T) c.1771-7A>T (n.1771-7A>T) c.2794-7A>T (n.2794-7A>T) | gnomAD v4 |
2 | g.189050684T>A | CA2662317788 | COL5A2 | c.2932-8A>T (n.2932-8A>T) c.1771-8A>T (n.1771-8A>T) c.2794-8A>T (n.2794-8A>T) | gnomAD v4 |
2 | g.189050685G>A | CA2662317791 | COL5A2 | c.2932-9C>T (n.2932-9C>T) c.1771-9C>T (n.1771-9C>T) c.2794-9C>T (n.2794-9C>T) | gnomAD v4 |
2 | g.189050685G>C | CA2662317789 | COL5A2 | c.2932-9C>G (n.2932-9C>G) c.1771-9C>G (n.1771-9C>G) c.2794-9C>G (n.2794-9C>G) | gnomAD v4 |
2 | g.189050685G>T | CA2662317790 | COL5A2 | c.2932-9C>A (n.2932-9C>A) c.1771-9C>A (n.1771-9C>A) c.2794-9C>A (n.2794-9C>A) | gnomAD v4 |
2 | g.189050686A>G | CA2662317792 | COL5A2 | c.2932-10T>C (n.2932-10T>C) c.1771-10T>C (n.1771-10T>C) c.2794-10T>C (n.2794-10T>C) | gnomAD v4 |
2 | g.189050687G>A | CA762256967 | COL5A2 | c.2932-11C>T (n.2932-11C>T) c.1771-11C>T (n.1771-11C>T) c.2794-11C>T (n.2794-11C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.189050687G= | CA1315425059 | COL5A2 | c.2932-11C= (n.2932-11C=) c.1771-11C= (n.1771-11C=) c.2794-11C= (n.2794-11C=) | |
2 | g.189050687G>T | CA2662317793 | COL5A2 | c.2932-11C>A (n.2932-11C>A) c.1771-11C>A (n.1771-11C>A) c.2794-11C>A (n.2794-11C>A) | gnomAD v4 |
2 | g.189050688G>T | CA2662317794 | COL5A2 | c.2932-12C>A (n.2932-12C>A) c.1771-12C>A (n.1771-12C>A) c.2794-12C>A (n.2794-12C>A) | gnomAD v4 |
2 | g.189050690C>A | CA2662317795 | COL5A2 | c.2932-14G>T (n.2932-14G>T) c.1771-14G>T (n.1771-14G>T) c.2794-14G>T (n.2794-14G>T) | gnomAD v4 |
2 | g.189050692A>G | CA2662317796 | COL5A2 | c.2932-16T>C (n.2932-16T>C) c.1771-16T>C (n.1771-16T>C) c.2794-16T>C (n.2794-16T>C) | gnomAD v4 |
2 | g.189050692A>T | CA2662317797 | COL5A2 | c.2932-16T>A (n.2932-16T>A) c.1771-16T>A (n.1771-16T>A) c.2794-16T>A (n.2794-16T>A) | gnomAD v4 |
2 | g.189050693A>G | CA2662317798 | COL5A2 | c.2932-17T>C (n.2932-17T>C) c.1771-17T>C (n.1771-17T>C) c.2794-17T>C (n.2794-17T>C) | gnomAD v4 |
2 | g.189050694C>A | CA1315425061 | COL5A2 | c.2932-18G>T (n.2932-18G>T) c.1771-18G>T (n.1771-18G>T) c.2794-18G>T (n.2794-18G>T) | dbSNP |
2 | g.189050694C= | CA1315425060 | COL5A2 | c.2932-18G= (n.2932-18G=) c.1771-18G= (n.1771-18G=) c.2794-18G= (n.2794-18G=) | |
2 | g.189050695T>C | CA2662317799 | COL5A2 | c.2932-19A>G (n.2932-19A>G) c.1771-19A>G (n.1771-19A>G) c.2794-19A>G (n.2794-19A>G) | gnomAD v4 |
2 | g.189050696A= | CA1315425062 | COL5A2 | c.2932-20T= (n.2932-20T=) c.1771-20T= (n.1771-20T=) c.2794-20T= (n.2794-20T=) | |
2 | g.189050696A>T | CA762256974 | COL5A2 | c.2932-20T>A (n.2932-20T>A) c.1771-20T>A (n.1771-20T>A) c.2794-20T>A (n.2794-20T>A) | dbSNP |
2 | g.189050699A= | CA1315425063 | COL5A2 | c.2932-23T= (n.2932-23T=) c.1771-23T= (n.1771-23T=) c.2794-23T= (n.2794-23T=) | |
2 | g.189050699A>C | CA538451974 | COL5A2 | c.2932-23T>G (n.2932-23T>G) c.1771-23T>G (n.1771-23T>G) c.2794-23T>G (n.2794-23T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |