Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189045805C>A | CA349862466 | COL5A2 | c.3304G>T (p.Asp1102Tyr) c.2143G>T (p.Asp715Tyr) c.3166G>T (p.Asp1056Tyr) | |
2 | g.189045805C>G | CA349862468 | COL5A2 | c.3304G>C (p.Asp1102His) c.2143G>C (p.Asp715His) c.3166G>C (p.Asp1056His) | |
2 | g.189045805C>T | CA349862467 | COL5A2 | c.3304G>A (p.Asp1102Asn) c.2143G>A (p.Asp715Asn) c.3166G>A (p.Asp1056Asn) | |
2 | g.189045806T>A | CA430321139 | COL5A2 | c.3303A>T (p.Gly1101=) c.2142A>T (p.Gly714=) c.3165A>T (p.Gly1055=) | |
2 | g.189045806T>C | CA430321140 | COL5A2 | c.3303A>G (p.Gly1101=) c.2142A>G (p.Gly714=) c.3165A>G (p.Gly1055=) | |
2 | g.189045806T>G | CA430321141 | COL5A2 | c.3303A>C (p.Gly1101=) c.2142A>C (p.Gly714=) c.3165A>C (p.Gly1055=) | |
2 | g.189045807C>A | CA349862469 | COL5A2 | c.3302G>T (p.Gly1101Val) c.2141G>T (p.Gly714Val) c.3164G>T (p.Gly1055Val) | |
2 | g.189045807C>G | CA349862470 | COL5A2 | c.3302G>C (p.Gly1101Ala) c.2141G>C (p.Gly714Ala) c.3164G>C (p.Gly1055Ala) | |
2 | g.189045807C>T | CA349862471 | COL5A2 | c.3302G>A (p.Gly1101Glu) c.2141G>A (p.Gly714Glu) c.3164G>A (p.Gly1055Glu) | |
2 | g.189045808C>A | CA349862472 | COL5A2 | c.3301G>T (p.Gly1101Ter) c.2140G>T (p.Gly714Ter) c.3163G>T (p.Gly1055Ter) | |
2 | g.189045808C>G | CA349862473 | COL5A2 | c.3301G>C (p.Gly1101Arg) c.2140G>C (p.Gly714Arg) c.3163G>C (p.Gly1055Arg) | |
2 | g.189045808C>T | CA349862474 | COL5A2 | c.3301G>A (p.Gly1101Arg) c.2140G>A (p.Gly714Arg) c.3163G>A (p.Gly1055Arg) | |
2 | g.189045809T>A | CA349862475 | COL5A2 | c.3300A>T (p.Arg1100Ser) c.2139A>T (p.Arg713Ser) c.3162A>T (p.Arg1054Ser) | |
2 | g.189045809T>C | CA2022058 | COL5A2 | c.3300A>G (p.Arg1100=) c.2139A>G (p.Arg713=) c.3162A>G (p.Arg1054=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045809T>G | CA349862476 | COL5A2 | c.3300A>C (p.Arg1100Ser) c.2139A>C (p.Arg713Ser) c.3162A>C (p.Arg1054Ser) | |
2 | g.189045809T= | CA1315418737 | COL5A2 | c.3300A= (p.Arg1100=) c.2139A= (p.Arg713=) c.3162A= (p.Arg1054=) | |
2 | g.189045810C>A | CA349862477 | COL5A2 | c.3299G>T (p.Arg1100Ile) c.2138G>T (p.Arg713Ile) c.3161G>T (p.Arg1054Ile) | |
2 | g.189045810C= | CA1315418740 | COL5A2 | c.3299G= (p.Arg1100=) c.2138G= (p.Arg713=) c.3161G= (p.Arg1054=) | |
2 | g.189045810C>G | CA62589988 | COL5A2 | c.3299G>C (p.Arg1100Thr) c.2138G>C (p.Arg713Thr) c.3161G>C (p.Arg1054Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045810C>T | CA349862478 | COL5A2 | c.3299G>A (p.Arg1100Lys) c.2138G>A (p.Arg713Lys) c.3161G>A (p.Arg1054Lys) | |
2 | g.189045811T>A | CA349862479 | COL5A2 | c.3298A>T (p.Arg1100Ter) c.2137A>T (p.Arg713Ter) c.3160A>T (p.Arg1054Ter) | |
2 | g.189045811T>C | CA349862480 | COL5A2 | c.3298A>G (p.Arg1100Gly) c.2137A>G (p.Arg713Gly) c.3160A>G (p.Arg1054Gly) | |
2 | g.189045811T>G | CA430321144 | COL5A2 | c.3298A>C (p.Arg1100=) c.2137A>C (p.Arg713=) c.3160A>C (p.Arg1054=) | |
2 | g.189045813del | CA2577186264 | COL5A2 | c.3298del (p.Arg1100GlufsTer10) c.2137del (p.Arg713GlufsTer10) c.3160del (p.Arg1054GlufsTer10) | |
2 | g.189045812T>A | CA349862481 | COL5A2 | c.3297A>T (p.Gln1099His) c.2136A>T (p.Gln712His) c.3159A>T (p.Gln1053His) | |
2 | g.189045812T>C | CA430321145 | COL5A2 | c.3297A>G (p.Gln1099=) c.2136A>G (p.Gln712=) c.3159A>G (p.Gln1053=) | |
2 | g.189045812T>G | CA349862482 | COL5A2 | c.3297A>C (p.Gln1099His) c.2136A>C (p.Gln712His) c.3159A>C (p.Gln1053His) | COSMIC |
2 | g.189045813T>A | CA349862483 | COL5A2 | c.3296A>T (p.Gln1099Leu) c.2135A>T (p.Gln712Leu) c.3158A>T (p.Gln1053Leu) | |
2 | g.189045813T>C | CA62589994 | COL5A2 | c.3296A>G (p.Gln1099Arg) c.2135A>G (p.Gln712Arg) c.3158A>G (p.Gln1053Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045813T>G | CA349862484 | COL5A2 | c.3296A>C (p.Gln1099Pro) c.2135A>C (p.Gln712Pro) c.3158A>C (p.Gln1053Pro) | |
2 | g.189045813T= | CA1315418743 | COL5A2 | c.3296A= (p.Gln1099=) c.2135A= (p.Gln712=) c.3158A= (p.Gln1053=) | |
2 | g.189045814G>A | CA349862485 | COL5A2 | c.3295C>T (p.Gln1099Ter) c.2134C>T (p.Gln712Ter) c.3157C>T (p.Gln1053Ter) | |
2 | g.189045814G>C | CA349862486 | COL5A2 | c.3295C>G (p.Gln1099Glu) c.2134C>G (p.Gln712Glu) c.3157C>G (p.Gln1053Glu) | ClinVar |
2 | g.189045814G>T | CA349862487 | COL5A2 | c.3295C>A (p.Gln1099Lys) c.2134C>A (p.Gln712Lys) c.3157C>A (p.Gln1053Lys) | COSMIC |
2 | g.189045815T>A | CA430321148 | COL5A2 | c.3294A>T (p.Gly1098=) c.2133A>T (p.Gly711=) c.3156A>T (p.Gly1052=) | |
2 | g.189045815T>C | CA430321149 | COL5A2 | c.3294A>G (p.Gly1098=) c.2133A>G (p.Gly711=) c.3156A>G (p.Gly1052=) | gnomAD v4 |
2 | g.189045815T>G | CA430321150 | COL5A2 | c.3294A>C (p.Gly1098=) c.2133A>C (p.Gly711=) c.3156A>C (p.Gly1052=) | |
2 | g.189045816C>A | CA349862488 | COL5A2 | c.3293G>T (p.Gly1098Val) c.2132G>T (p.Gly711Val) c.3155G>T (p.Gly1052Val) | |
2 | g.189045816C>G | CA349862489 | COL5A2 | c.3293G>C (p.Gly1098Ala) c.2132G>C (p.Gly711Ala) c.3155G>C (p.Gly1052Ala) | COSMIC |
2 | g.189045816C>T | CA349862490 | COL5A2 | c.3293G>A (p.Gly1098Glu) c.2132G>A (p.Gly711Glu) c.3155G>A (p.Gly1052Glu) | |
2 | g.189045817C>A | CA349862491 | COL5A2 | c.3292G>T (p.Gly1098Ter) c.2131G>T (p.Gly711Ter) c.3154G>T (p.Gly1052Ter) | |
2 | g.189045817C>G | CA349862492 | COL5A2 | c.3292G>C (p.Gly1098Arg) c.2131G>C (p.Gly711Arg) c.3154G>C (p.Gly1052Arg) | |
2 | g.189045817C>T | CA349862493 | COL5A2 | c.3292G>A (p.Gly1098Arg) c.2131G>A (p.Gly711Arg) c.3154G>A (p.Gly1052Arg) | |
2 | g.189045818T>A | CA430321151 | COL5A2 | c.3291A>T (p.Ala1097=) c.2130A>T (p.Ala710=) c.3153A>T (p.Ala1051=) | |
2 | g.189045818T>C | CA430321152 | COL5A2 | c.3291A>G (p.Ala1097=) c.2130A>G (p.Ala710=) c.3153A>G (p.Ala1051=) | |
2 | g.189045818T>G | CA430321153 | COL5A2 | c.3291A>C (p.Ala1097=) c.2130A>C (p.Ala710=) c.3153A>C (p.Ala1051=) | |
2 | g.189045819G>A | CA349862496 | COL5A2 | c.3290C>T (p.Ala1097Val) c.2129C>T (p.Ala710Val) c.3152C>T (p.Ala1051Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045819G>C | CA349862495 | COL5A2 | c.3290C>G (p.Ala1097Gly) c.2129C>G (p.Ala710Gly) c.3152C>G (p.Ala1051Gly) | |
2 | g.189045819G= | CA1315418748 | COL5A2 | c.3290C= (p.Ala1097=) c.2129C= (p.Ala710=) c.3152C= (p.Ala1051=) | |
2 | g.189045819G>T | CA349862494 | COL5A2 | c.3290C>A (p.Ala1097Glu) c.2129C>A (p.Ala710Glu) c.3152C>A (p.Ala1051Glu) | |
2 | g.189045820C>A | CA349862497 | COL5A2 | c.3289G>T (p.Ala1097Ser) c.2128G>T (p.Ala710Ser) c.3151G>T (p.Ala1051Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045820C= | CA1315418750 | COL5A2 | c.3289G= (p.Ala1097=) c.2128G= (p.Ala710=) c.3151G= (p.Ala1051=) | |
2 | g.189045820C>G | CA349862498 | COL5A2 | c.3289G>C (p.Ala1097Pro) c.2128G>C (p.Ala710Pro) c.3151G>C (p.Ala1051Pro) | |
2 | g.189045820C>T | CA349862499 | COL5A2 | c.3289G>A (p.Ala1097Thr) c.2128G>A (p.Ala710Thr) c.3151G>A (p.Ala1051Thr) | |
2 | g.189045821A= | CA1315418753 | COL5A2 | c.3288T= (p.Asp1096=) c.2127T= (p.Asp709=) c.3150T= (p.Asp1050=) | |
2 | g.189045821A>C | CA349862500 | COL5A2 | c.3288T>G (p.Asp1096Glu) c.2127T>G (p.Asp709Glu) c.3150T>G (p.Asp1050Glu) | |
2 | g.189045821A>G | CA62589998 | COL5A2 | c.3288T>C (p.Asp1096=) c.2127T>C (p.Asp709=) c.3150T>C (p.Asp1050=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045821A>T | CA349862501 | COL5A2 | c.3288T>A (p.Asp1096Glu) c.2127T>A (p.Asp709Glu) c.3150T>A (p.Asp1050Glu) | |
2 | g.189045822T>A | CA349862502 | COL5A2 | c.3287A>T (p.Asp1096Val) c.2126A>T (p.Asp709Val) c.3149A>T (p.Asp1050Val) | |
2 | g.189045822T>C | CA349862503 | COL5A2 | c.3287A>G (p.Asp1096Gly) c.2126A>G (p.Asp709Gly) c.3149A>G (p.Asp1050Gly) | |
2 | g.189045822T>G | CA349862504 | COL5A2 | c.3287A>C (p.Asp1096Ala) c.2126A>C (p.Asp709Ala) c.3149A>C (p.Asp1050Ala) | |
2 | g.189045823C>A | CA349862505 | COL5A2 | c.3286G>T (p.Asp1096Tyr) c.2125G>T (p.Asp709Tyr) c.3148G>T (p.Asp1050Tyr) | |
2 | g.189045823C= | CA1315418757 | COL5A2 | c.3286G= (p.Asp1096=) c.2125G= (p.Asp709=) c.3148G= (p.Asp1050=) | |
2 | g.189045823C>G | CA349862506 | COL5A2 | c.3286G>C (p.Asp1096His) c.2125G>C (p.Asp709His) c.3148G>C (p.Asp1050His) | dbSNP gnomAD v4 |
2 | g.189045823C>T | CA349862507 | COL5A2 | c.3286G>A (p.Asp1096Asn) c.2125G>A (p.Asp709Asn) c.3148G>A (p.Asp1050Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045824T>A | CA430321157 | COL5A2 | c.3285A>T (p.Gly1095=) c.2124A>T (p.Gly708=) c.3147A>T (p.Gly1049=) | |
2 | g.189045824T>C | CA430321158 | COL5A2 | c.3285A>G (p.Gly1095=) c.2124A>G (p.Gly708=) c.3147A>G (p.Gly1049=) | |
2 | g.189045824T>G | CA430321160 | COL5A2 | c.3285A>C (p.Gly1095=) c.2124A>C (p.Gly708=) c.3147A>C (p.Gly1049=) | |
2 | g.189045825C>A | CA349862508 | COL5A2 | c.3284G>T (p.Gly1095Val) c.2123G>T (p.Gly708Val) c.3146G>T (p.Gly1049Val) | dbSNP gnomAD v4 COSMIC |
2 | g.189045825C= | CA1315418760 | COL5A2 | c.3284G= (p.Gly1095=) c.2123G= (p.Gly708=) c.3146G= (p.Gly1049=) | |
2 | g.189045825C>G | CA349862510 | COL5A2 | c.3284G>C (p.Gly1095Ala) c.2123G>C (p.Gly708Ala) c.3146G>C (p.Gly1049Ala) | |
2 | g.189045825C>T | CA349862509 | COL5A2 | c.3284G>A (p.Gly1095Glu) c.2123G>A (p.Gly708Glu) c.3146G>A (p.Gly1049Glu) | COSMIC |
2 | g.189045826C>A | CA349862511 | COL5A2 | c.3283G>T (p.Gly1095Ter) c.2122G>T (p.Gly708Ter) c.3145G>T (p.Gly1049Ter) | |
2 | g.189045826C= | CA1315418764 | COL5A2 | c.3283G= (p.Gly1095=) c.2122G= (p.Gly708=) c.3145G= (p.Gly1049=) | |
2 | g.189045826C>G | CA349862513 | COL5A2 | c.3283G>C (p.Gly1095Arg) c.2122G>C (p.Gly708Arg) c.3145G>C (p.Gly1049Arg) | |
2 | g.189045826C>T | CA349862512 | COL5A2 | c.3283G>A (p.Gly1095Arg) c.2122G>A (p.Gly708Arg) c.3145G>A (p.Gly1049Arg) | ClinVar dbSNP |
2 | g.189045827T>A | CA430321161 | COL5A2 | c.3282A>T (p.Pro1094=) c.2121A>T (p.Pro707=) c.3144A>T (p.Pro1048=) | |
2 | g.189045827T>C | CA430321162 | COL5A2 | c.3282A>G (p.Pro1094=) c.2121A>G (p.Pro707=) c.3144A>G (p.Pro1048=) | |
2 | g.189045827T>G | CA430321163 | COL5A2 | c.3282A>C (p.Pro1094=) c.2121A>C (p.Pro707=) c.3144A>C (p.Pro1048=) | |
2 | g.189045828G>A | CA349862514 | COL5A2 | c.3281C>T (p.Pro1094Leu) c.2120C>T (p.Pro707Leu) c.3143C>T (p.Pro1048Leu) | |
2 | g.189045828G>C | CA349862516 | COL5A2 | c.3281C>G (p.Pro1094Arg) c.2120C>G (p.Pro707Arg) c.3143C>G (p.Pro1048Arg) | |
2 | g.189045828G= | CA1315418768 | COL5A2 | c.3281C= (p.Pro1094=) c.2120C= (p.Pro707=) c.3143C= (p.Pro1048=) | |
2 | g.189045828G>T | CA349862515 | COL5A2 | c.3281C>A (p.Pro1094Gln) c.2120C>A (p.Pro707Gln) c.3143C>A (p.Pro1048Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045829G>A | CA349862517 | COL5A2 | c.3280C>T (p.Pro1094Ser) c.2119C>T (p.Pro707Ser) c.3142C>T (p.Pro1048Ser) | |
2 | g.189045829G>C | CA349862518 | COL5A2 | c.3280C>G (p.Pro1094Ala) c.2119C>G (p.Pro707Ala) c.3142C>G (p.Pro1048Ala) | |
2 | g.189045829G>T | CA349862519 | COL5A2 | c.3280C>A (p.Pro1094Thr) c.2119C>A (p.Pro707Thr) c.3142C>A (p.Pro1048Thr) | gnomAD v4 |
2 | g.189045830A>C | CA430321167 | COL5A2 | c.3279T>G (p.Ala1093=) c.2118T>G (p.Ala706=) c.3141T>G (p.Ala1047=) | |
2 | g.189045830A>G | CA430321168 | COL5A2 | c.3279T>C (p.Ala1093=) c.2118T>C (p.Ala706=) c.3141T>C (p.Ala1047=) | |
2 | g.189045830A>T | CA430321166 | COL5A2 | c.3279T>A (p.Ala1093=) c.2118T>A (p.Ala706=) c.3141T>A (p.Ala1047=) | |
2 | g.189045831G>A | CA349862520 | COL5A2 | c.3278C>T (p.Ala1093Val) c.2117C>T (p.Ala706Val) c.3140C>T (p.Ala1047Val) | |
2 | g.189045831G>C | CA349862521 | COL5A2 | c.3278C>G (p.Ala1093Gly) c.2117C>G (p.Ala706Gly) c.3140C>G (p.Ala1047Gly) | |
2 | g.189045831G>T | CA349862522 | COL5A2 | c.3278C>A (p.Ala1093Asp) c.2117C>A (p.Ala706Asp) c.3140C>A (p.Ala1047Asp) | ClinVar |
2 | g.189045832C>A | CA349862525 | COL5A2 | c.3277G>T (p.Ala1093Ser) c.2116G>T (p.Ala706Ser) c.3139G>T (p.Ala1047Ser) | |
2 | g.189045832C>G | CA349862524 | COL5A2 | c.3277G>C (p.Ala1093Pro) c.2116G>C (p.Ala706Pro) c.3139G>C (p.Ala1047Pro) | |
2 | g.189045832C>T | CA349862523 | COL5A2 | c.3277G>A (p.Ala1093Thr) c.2116G>A (p.Ala706Thr) c.3139G>A (p.Ala1047Thr) | gnomAD v4 |
2 | g.189045833A>C | CA430321171 | COL5A2 | c.3276T>G (p.Gly1092=) c.2115T>G (p.Gly705=) c.3138T>G (p.Gly1046=) | |
2 | g.189045833A>G | CA430321169 | COL5A2 | c.3276T>C (p.Gly1092=) c.2115T>C (p.Gly705=) c.3138T>C (p.Gly1046=) | |
2 | g.189045833A>T | CA430321170 | COL5A2 | c.3276T>A (p.Gly1092=) c.2115T>A (p.Gly705=) c.3138T>A (p.Gly1046=) | |
2 | g.189045834C>A | CA349862526 | COL5A2 | c.3275G>T (p.Gly1092Val) c.2114G>T (p.Gly705Val) c.3137G>T (p.Gly1046Val) | dbSNP |
2 | g.189045834C= | CA1315418772 | COL5A2 | c.3275G= (p.Gly1092=) c.2114G= (p.Gly705=) c.3137G= (p.Gly1046=) | |
2 | g.189045834C>G | CA349862527 | COL5A2 | c.3275G>C (p.Gly1092Ala) c.2114G>C (p.Gly705Ala) c.3137G>C (p.Gly1046Ala) | |
2 | g.189045834C>T | CA62590007 | COL5A2 | c.3275G>A (p.Gly1092Asp) c.2114G>A (p.Gly705Asp) c.3137G>A (p.Gly1046Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045835C>A | CA349862528 | COL5A2 | c.3274G>T (p.Gly1092Cys) c.2113G>T (p.Gly705Cys) c.3136G>T (p.Gly1046Cys) | |
2 | g.189045835C>G | CA349862529 | COL5A2 | c.3274G>C (p.Gly1092Arg) c.2113G>C (p.Gly705Arg) c.3136G>C (p.Gly1046Arg) | |
2 | g.189045835C>T | CA349862530 | COL5A2 | c.3274G>A (p.Gly1092Ser) c.2113G>A (p.Gly705Ser) c.3136G>A (p.Gly1046Ser) | |
2 | g.189045836C>A | CA430321173 | COL5A2 | c.3273G>T (p.Val1091=) c.2112G>T (p.Val704=) c.3135G>T (p.Val1045=) | |
2 | g.189045836C>G | CA430321175 | COL5A2 | c.3273G>C (p.Val1091=) c.2112G>C (p.Val704=) c.3135G>C (p.Val1045=) | |
2 | g.189045836C>T | CA430321174 | COL5A2 | c.3273G>A (p.Val1091=) c.2112G>A (p.Val704=) c.3135G>A (p.Val1045=) | gnomAD v4 |
2 | g.189045837A>C | CA349862531 | COL5A2 | c.3272T>G (p.Val1091Gly) c.2111T>G (p.Val704Gly) c.3134T>G (p.Val1045Gly) | |
2 | g.189045837A>G | CA349862533 | COL5A2 | c.3272T>C (p.Val1091Ala) c.2111T>C (p.Val704Ala) c.3134T>C (p.Val1045Ala) | |
2 | g.189045837A>T | CA349862532 | COL5A2 | c.3272T>A (p.Val1091Glu) c.2111T>A (p.Val704Glu) c.3134T>A (p.Val1045Glu) | |
2 | g.189045838C>A | CA349862534 | COL5A2 | c.3271G>T (p.Val1091Leu) c.2110G>T (p.Val704Leu) c.3133G>T (p.Val1045Leu) | |
2 | g.189045838C>G | CA349862535 | COL5A2 | c.3271G>C (p.Val1091Leu) c.2110G>C (p.Val704Leu) c.3133G>C (p.Val1045Leu) | |
2 | g.189045838C>T | CA349862536 | COL5A2 | c.3271G>A (p.Val1091Met) c.2110G>A (p.Val704Met) c.3133G>A (p.Val1045Met) | |
2 | g.189045839A= | CA1315418775 | COL5A2 | c.3270T= (p.Pro1090=) c.2109T= (p.Pro703=) c.3132T= (p.Pro1044=) | |
2 | g.189045839A>C | CA430321177 | COL5A2 | c.3270T>G (p.Pro1090=) c.2109T>G (p.Pro703=) c.3132T>G (p.Pro1044=) | |
2 | g.189045839A>G | CA430321178 | COL5A2 | c.3270T>C (p.Pro1090=) c.2109T>C (p.Pro703=) c.3132T>C (p.Pro1044=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045839A>T | CA430321179 | COL5A2 | c.3270T>A (p.Pro1090=) c.2109T>A (p.Pro703=) c.3132T>A (p.Pro1044=) | |
2 | g.189045840G>A | CA349862537 | COL5A2 | c.3269C>T (p.Pro1090Leu) c.2108C>T (p.Pro703Leu) c.3131C>T (p.Pro1044Leu) | gnomAD v4 |
2 | g.189045840G>C | CA349862538 | COL5A2 | c.3269C>G (p.Pro1090Arg) c.2108C>G (p.Pro703Arg) c.3131C>G (p.Pro1044Arg) | |
2 | g.189045840G= | CA1315418778 | COL5A2 | c.3269C= (p.Pro1090=) c.2108C= (p.Pro703=) c.3131C= (p.Pro1044=) | |
2 | g.189045840G>T | CA2022059 | COL5A2 | c.3269C>A (p.Pro1090His) c.2108C>A (p.Pro703His) c.3131C>A (p.Pro1044His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045841G>A | CA324267 | COL5A2 | c.3268C>T (p.Pro1090Ser) c.2107C>T (p.Pro703Ser) c.3130C>T (p.Pro1044Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045841G>C | CA349862541 | COL5A2 | c.3268C>G (p.Pro1090Ala) c.2107C>G (p.Pro703Ala) c.3130C>G (p.Pro1044Ala) | |
2 | g.189045841G= | CA1315418784 | COL5A2 | c.3268C= (p.Pro1090=) c.2107C= (p.Pro703=) c.3130C= (p.Pro1044=) | |
2 | g.189045841G>T | CA349862543 | COL5A2 | c.3268C>A (p.Pro1090Thr) c.2107C>A (p.Pro703Thr) c.3130C>A (p.Pro1044Thr) | ClinVar gnomAD v4 |
2 | g.189045842G>A | CA430321180 | COL5A2 | c.3267C>T (p.Gly1089=) c.2106C>T (p.Gly702=) c.3129C>T (p.Gly1043=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045842G>C | CA430321181 | COL5A2 | c.3267C>G (p.Gly1089=) c.2106C>G (p.Gly702=) c.3129C>G (p.Gly1043=) | |
2 | g.189045842G= | CA1315418786 | COL5A2 | c.3267C= (p.Gly1089=) c.2106C= (p.Gly702=) c.3129C= (p.Gly1043=) | |
2 | g.189045842G>T | CA430321182 | COL5A2 | c.3267C>A (p.Gly1089=) c.2106C>A (p.Gly702=) c.3129C>A (p.Gly1043=) | |
2 | g.189045843C>A | CA349862544 | COL5A2 | c.3266G>T (p.Gly1089Val) c.2105G>T (p.Gly702Val) c.3128G>T (p.Gly1043Val) | |
2 | g.189045843C>G | CA349862546 | COL5A2 | c.3266G>C (p.Gly1089Ala) c.2105G>C (p.Gly702Ala) c.3128G>C (p.Gly1043Ala) | |
2 | g.189045843C>T | CA349862547 | COL5A2 | c.3266G>A (p.Gly1089Asp) c.2105G>A (p.Gly702Asp) c.3128G>A (p.Gly1043Asp) | |
2 | g.189045844C>A | CA349862550 | COL5A2 | c.3265G>T (p.Gly1089Cys) c.2104G>T (p.Gly702Cys) c.3127G>T (p.Gly1043Cys) | |
2 | g.189045844C>G | CA349862553 | COL5A2 | c.3265G>C (p.Gly1089Arg) c.2104G>C (p.Gly702Arg) c.3127G>C (p.Gly1043Arg) | |
2 | g.189045844C>T | CA349862551 | COL5A2 | c.3265G>A (p.Gly1089Ser) c.2104G>A (p.Gly702Ser) c.3127G>A (p.Gly1043Ser) | |
2 | g.189045845A>C | CA430321184 | COL5A2 | c.3264T>G (p.Pro1088=) c.2103T>G (p.Pro701=) c.3126T>G (p.Pro1042=) | |
2 | g.189045845A>G | CA430321185 | COL5A2 | c.3264T>C (p.Pro1088=) c.2103T>C (p.Pro701=) c.3126T>C (p.Pro1042=) | |
2 | g.189045845A>T | CA430321187 | COL5A2 | c.3264T>A (p.Pro1088=) c.2103T>A (p.Pro701=) c.3126T>A (p.Pro1042=) | |
2 | g.189045846G>A | CA349862555 | COL5A2 | c.3263C>T (p.Pro1088Leu) c.2102C>T (p.Pro701Leu) c.3125C>T (p.Pro1042Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045846G>C | CA349862557 | COL5A2 | c.3263C>G (p.Pro1088Arg) c.2102C>G (p.Pro701Arg) c.3125C>G (p.Pro1042Arg) | |
2 | g.189045846G= | CA1315418792 | COL5A2 | c.3263C= (p.Pro1088=) c.2102C= (p.Pro701=) c.3125C= (p.Pro1042=) | |
2 | g.189045846G>T | CA349862558 | COL5A2 | c.3263C>A (p.Pro1088His) c.2102C>A (p.Pro701His) c.3125C>A (p.Pro1042His) | |
2 | g.189045847G>A | CA349862561 | COL5A2 | c.3262C>T (p.Pro1088Ser) c.2101C>T (p.Pro701Ser) c.3124C>T (p.Pro1042Ser) | gnomAD v4 |
2 | g.189045847G>C | CA349862562 | COL5A2 | c.3262C>G (p.Pro1088Ala) c.2101C>G (p.Pro701Ala) c.3124C>G (p.Pro1042Ala) | |
2 | g.189045847G>T | CA349862563 | COL5A2 | c.3262C>A (p.Pro1088Thr) c.2101C>A (p.Pro701Thr) c.3124C>A (p.Pro1042Thr) | |
2 | g.189045848A>C | CA430321190 | COL5A2 | c.3261T>G (p.Thr1087=) c.2100T>G (p.Thr700=) c.3123T>G (p.Thr1041=) | |
2 | g.189045848A>G | CA430321192 | COL5A2 | c.3261T>C (p.Thr1087=) c.2100T>C (p.Thr700=) c.3123T>C (p.Thr1041=) | |
2 | g.189045848A>T | CA430321193 | COL5A2 | c.3261T>A (p.Thr1087=) c.2100T>A (p.Thr700=) c.3123T>A (p.Thr1041=) | |
2 | g.189045849G>A | CA349862566 | COL5A2 | c.3260C>T (p.Thr1087Ile) c.2099C>T (p.Thr700Ile) c.3122C>T (p.Thr1041Ile) | |
2 | g.189045849G>C | CA349862567 | COL5A2 | c.3260C>G (p.Thr1087Ser) c.2099C>G (p.Thr700Ser) c.3122C>G (p.Thr1041Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045849G= | CA1315418796 | COL5A2 | c.3260C= (p.Thr1087=) c.2099C= (p.Thr700=) c.3122C= (p.Thr1041=) | |
2 | g.189045849G>T | CA349862569 | COL5A2 | c.3260C>A (p.Thr1087Asn) c.2099C>A (p.Thr700Asn) c.3122C>A (p.Thr1041Asn) | |
2 | g.189045850T>A | CA349862571 | COL5A2 | c.3259A>T (p.Thr1087Ser) c.2098A>T (p.Thr700Ser) c.3121A>T (p.Thr1041Ser) | |
2 | g.189045850T>C | CA349862573 | COL5A2 | c.3259A>G (p.Thr1087Ala) c.2098A>G (p.Thr700Ala) c.3121A>G (p.Thr1041Ala) | |
2 | g.189045850T>G | CA349862574 | COL5A2 | c.3259A>C (p.Thr1087Pro) c.2098A>C (p.Thr700Pro) c.3121A>C (p.Thr1041Pro) | dbSNP |
2 | g.189045850T= | CA1315418799 | COL5A2 | c.3259A= (p.Thr1087=) c.2098A= (p.Thr700=) c.3121A= (p.Thr1041=) | |
2 | g.189045851T>A | CA430321200 | COL5A2 | c.3258A>T (p.Gly1086=) c.2097A>T (p.Gly699=) c.3120A>T (p.Gly1040=) | |
2 | g.189045851T>C | CA430321199 | COL5A2 | c.3258A>G (p.Gly1086=) c.2097A>G (p.Gly699=) c.3120A>G (p.Gly1040=) | |
2 | g.189045851T>G | CA430321198 | COL5A2 | c.3258A>C (p.Gly1086=) c.2097A>C (p.Gly699=) c.3120A>C (p.Gly1040=) | |
2 | g.189045852C>A | CA349862580 | COL5A2 | c.3257G>T (p.Gly1086Val) c.2096G>T (p.Gly699Val) c.3119G>T (p.Gly1040Val) | |
2 | g.189045852C>G | CA349862577 | COL5A2 | c.3257G>C (p.Gly1086Ala) c.2096G>C (p.Gly699Ala) c.3119G>C (p.Gly1040Ala) | |
2 | g.189045852C>T | CA349862576 | COL5A2 | c.3257G>A (p.Gly1086Glu) c.2096G>A (p.Gly699Glu) c.3119G>A (p.Gly1040Glu) | COSMIC |
2 | g.189045853C>A | CA349862581 | COL5A2 | c.3256G>T (p.Gly1086Ter) c.2095G>T (p.Gly699Ter) c.3118G>T (p.Gly1040Ter) | |
2 | g.189045853C>G | CA349862583 | COL5A2 | c.3256G>C (p.Gly1086Arg) c.2095G>C (p.Gly699Arg) c.3118G>C (p.Gly1040Arg) | |
2 | g.189045853C>T | CA349862585 | COL5A2 | c.3256G>A (p.Gly1086Arg) c.2095G>A (p.Gly699Arg) c.3118G>A (p.Gly1040Arg) | |
2 | g.189045854A>C | CA430321202 | COL5A2 | c.3255T>G (p.Pro1085=) c.2094T>G (p.Pro698=) c.3117T>G (p.Pro1039=) | |
2 | g.189045854A>G | CA430321203 | COL5A2 | c.3255T>C (p.Pro1085=) c.2094T>C (p.Pro698=) c.3117T>C (p.Pro1039=) | |
2 | g.189045854A>T | CA430321204 | COL5A2 | c.3255T>A (p.Pro1085=) c.2094T>A (p.Pro698=) c.3117T>A (p.Pro1039=) | |
2 | g.189045855G>A | CA349862587 | COL5A2 | c.3254C>T (p.Pro1085Leu) c.2093C>T (p.Pro698Leu) c.3116C>T (p.Pro1039Leu) | |
2 | g.189045855G>C | CA349862588 | COL5A2 | c.3254C>G (p.Pro1085Arg) c.2093C>G (p.Pro698Arg) c.3116C>G (p.Pro1039Arg) | |
2 | g.189045855G>T | CA349862590 | COL5A2 | c.3254C>A (p.Pro1085His) c.2093C>A (p.Pro698His) c.3116C>A (p.Pro1039His) | |
2 | g.189045855_189045856insT | CA645527004 | COL5A2 | c.3253_3254insA (p.Pro1085HisfsTer?) c.2092_2093insA (p.Pro698HisfsTer?) c.3115_3116insA (p.Pro1039HisfsTer?) | COSMIC |
2 | g.189045856G>A | CA349862593 | COL5A2 | c.3253C>T (p.Pro1085Ser) c.2092C>T (p.Pro698Ser) c.3115C>T (p.Pro1039Ser) | gnomAD v4 |
2 | g.189045856G>C | CA349862594 | COL5A2 | c.3253C>G (p.Pro1085Ala) c.2092C>G (p.Pro698Ala) c.3115C>G (p.Pro1039Ala) | |
2 | g.189045856G>T | CA349862596 | COL5A2 | c.3253C>A (p.Pro1085Thr) c.2092C>A (p.Pro698Thr) c.3115C>A (p.Pro1039Thr) | |
2 | g.189045857G>A | CA430321209 | COL5A2 | c.3252C>T (p.Ala1084=) c.2091C>T (p.Ala697=) c.3114C>T (p.Ala1038=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045857G>C | CA430321206 | COL5A2 | c.3252C>G (p.Ala1084=) c.2091C>G (p.Ala697=) c.3114C>G (p.Ala1038=) | |
2 | g.189045857G= | CA1315418805 | COL5A2 | c.3252C= (p.Ala1084=) c.2091C= (p.Ala697=) c.3114C= (p.Ala1038=) | |
2 | g.189045857G>T | CA430321208 | COL5A2 | c.3252C>A (p.Ala1084=) c.2091C>A (p.Ala697=) c.3114C>A (p.Ala1038=) | |
2 | g.189045858G>A | CA349862598 | COL5A2 | c.3251C>T (p.Ala1084Val) c.2090C>T (p.Ala697Val) c.3113C>T (p.Ala1038Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045858G>C | CA349862600 | COL5A2 | c.3251C>G (p.Ala1084Gly) c.2090C>G (p.Ala697Gly) c.3113C>G (p.Ala1038Gly) | |
2 | g.189045858G= | CA1315418808 | COL5A2 | c.3251C= (p.Ala1084=) c.2090C= (p.Ala697=) c.3113C= (p.Ala1038=) | |
2 | g.189045858G>T | CA349862602 | COL5A2 | c.3251C>A (p.Ala1084Asp) c.2090C>A (p.Ala697Asp) c.3113C>A (p.Ala1038Asp) | |
2 | g.189045859C>A | CA349862605 | COL5A2 | c.3250G>T (p.Ala1084Ser) c.2089G>T (p.Ala697Ser) c.3112G>T (p.Ala1038Ser) | gnomAD v4 |
2 | g.189045859C= | CA1315418809 | COL5A2 | c.3250G= (p.Ala1084=) c.2089G= (p.Ala697=) c.3112G= (p.Ala1038=) | |
2 | g.189045859C>G | CA349862608 | COL5A2 | c.3250G>C (p.Ala1084Pro) c.2089G>C (p.Ala697Pro) c.3112G>C (p.Ala1038Pro) | |
2 | g.189045859C>T | CA349862606 | COL5A2 | c.3250G>A (p.Ala1084Thr) c.2089G>A (p.Ala697Thr) c.3112G>A (p.Ala1038Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045860A= | CA1315418811 | COL5A2 | c.3249T= (p.Gly1083=) c.2088T= (p.Gly696=) c.3111T= (p.Gly1037=) | |
2 | g.189045860A>C | CA62590026 | COL5A2 | c.3249T>G (p.Gly1083=) c.2088T>G (p.Gly696=) c.3111T>G (p.Gly1037=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045860A>G | CA430321213 | COL5A2 | c.3249T>C (p.Gly1083=) c.2088T>C (p.Gly696=) c.3111T>C (p.Gly1037=) | COSMIC |
2 | g.189045860A>T | CA430321214 | COL5A2 | c.3249T>A (p.Gly1083=) c.2088T>A (p.Gly696=) c.3111T>A (p.Gly1037=) | |
2 | g.189045861C>A | CA349862610 | COL5A2 | c.3248G>T (p.Gly1083Val) c.2087G>T (p.Gly696Val) c.3110G>T (p.Gly1037Val) | gnomAD v4 COSMIC |
2 | g.189045861C= | CA1315418815 | COL5A2 | c.3248G= (p.Gly1083=) c.2087G= (p.Gly696=) c.3110G= (p.Gly1037=) | |
2 | g.189045861C>G | CA349862612 | COL5A2 | c.3248G>C (p.Gly1083Ala) c.2087G>C (p.Gly696Ala) c.3110G>C (p.Gly1037Ala) | |
2 | g.189045861C>T | CA349862611 | COL5A2 | c.3248G>A (p.Gly1083Asp) c.2087G>A (p.Gly696Asp) c.3110G>A (p.Gly1037Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.189045862C>A | CA349862613 | COL5A2 | c.3247G>T (p.Gly1083Cys) c.2086G>T (p.Gly696Cys) c.3109G>T (p.Gly1037Cys) | |
2 | g.189045862C>G | CA349862615 | COL5A2 | c.3247G>C (p.Gly1083Arg) c.2086G>C (p.Gly696Arg) c.3109G>C (p.Gly1037Arg) | |
2 | g.189045862C>T | CA349862617 | COL5A2 | c.3247G>A (p.Gly1083Ser) c.2086G>A (p.Gly696Ser) c.3109G>A (p.Gly1037Ser) | |
2 | g.189045863C>A | CA349862619 | COL5A2 | c.3246G>T (p.Gln1082His) c.2085G>T (p.Gln695His) c.3108G>T (p.Gln1036His) | gnomAD v4 |
2 | g.189045863C= | CA1315418821 | COL5A2 | c.3246G= (p.Gln1082=) c.2085G= (p.Gln695=) c.3108G= (p.Gln1036=) | |
2 | g.189045863C>G | CA62590030 | COL5A2 | c.3246G>C (p.Gln1082His) c.2085G>C (p.Gln695His) c.3108G>C (p.Gln1036His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045863C>T | CA430321216 | COL5A2 | c.3246G>A (p.Gln1082=) c.2085G>A (p.Gln695=) c.3108G>A (p.Gln1036=) | |
2 | g.189045864T>A | CA349862623 | COL5A2 | c.3245A>T (p.Gln1082Leu) c.2084A>T (p.Gln695Leu) c.3107A>T (p.Gln1036Leu) | |
2 | g.189045864T>C | CA349862624 | COL5A2 | c.3245A>G (p.Gln1082Arg) c.2084A>G (p.Gln695Arg) c.3107A>G (p.Gln1036Arg) | |
2 | g.189045864T>G | CA349862626 | COL5A2 | c.3245A>C (p.Gln1082Pro) c.2084A>C (p.Gln695Pro) c.3107A>C (p.Gln1036Pro) | |
2 | g.189045865G>A | CA349862627 | COL5A2 | c.3244C>T (p.Gln1082Ter) c.2083C>T (p.Gln695Ter) c.3106C>T (p.Gln1036Ter) | |
2 | g.189045865G>C | CA349862629 | COL5A2 | c.3244C>G (p.Gln1082Glu) c.2083C>G (p.Gln695Glu) c.3106C>G (p.Gln1036Glu) | |
2 | g.189045865G>T | CA349862632 | COL5A2 | c.3244C>A (p.Gln1082Lys) c.2083C>A (p.Gln695Lys) c.3106C>A (p.Gln1036Lys) | |
2 | g.189045866A>C | CA430321222 | COL5A2 | c.3243T>G (p.Ser1081=) c.2082T>G (p.Ser694=) c.3105T>G (p.Ser1035=) | |
2 | g.189045866A>G | CA430321224 | COL5A2 | c.3243T>C (p.Ser1081=) c.2082T>C (p.Ser694=) c.3105T>C (p.Ser1035=) | |
2 | g.189045866A>T | CA430321225 | COL5A2 | c.3243T>A (p.Ser1081=) c.2082T>A (p.Ser694=) c.3105T>A (p.Ser1035=) | |
2 | g.189045867G>A | CA349862635 | COL5A2 | c.3242C>T (p.Ser1081Phe) c.2081C>T (p.Ser694Phe) c.3104C>T (p.Ser1035Phe) | gnomAD v4 |
2 | g.189045867G>C | CA349862640 | COL5A2 | c.3242C>G (p.Ser1081Cys) c.2081C>G (p.Ser694Cys) c.3104C>G (p.Ser1035Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045867G= | CA1315418826 | COL5A2 | c.3242C= (p.Ser1081=) c.2081C= (p.Ser694=) c.3104C= (p.Ser1035=) | |
2 | g.189045867G>T | CA349862637 | COL5A2 | c.3242C>A (p.Ser1081Tyr) c.2081C>A (p.Ser694Tyr) c.3104C>A (p.Ser1035Tyr) | |
2 | g.189045868A= | CA1315418830 | COL5A2 | c.3241T= (p.Ser1081=) c.2080T= (p.Ser694=) c.3103T= (p.Ser1035=) | |
2 | g.189045868A>C | CA349862642 | COL5A2 | c.3241T>G (p.Ser1081Ala) c.2080T>G (p.Ser694Ala) c.3103T>G (p.Ser1035Ala) | |
2 | g.189045868A>G | CA349862646 | COL5A2 | c.3241T>C (p.Ser1081Pro) c.2080T>C (p.Ser694Pro) c.3103T>C (p.Ser1035Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045868A>T | CA349862649 | COL5A2 | c.3241T>A (p.Ser1081Thr) c.2080T>A (p.Ser694Thr) c.3103T>A (p.Ser1035Thr) | |
2 | g.189045869G>A | CA430321226 | COL5A2 | c.3240C>T (p.Gly1080=) c.2079C>T (p.Gly693=) c.3102C>T (p.Gly1034=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045869G>C | CA430321227 | COL5A2 | c.3240C>G (p.Gly1080=) c.2079C>G (p.Gly693=) c.3102C>G (p.Gly1034=) | |
2 | g.189045869G= | CA1315418836 | COL5A2 | c.3240C= (p.Gly1080=) c.2079C= (p.Gly693=) c.3102C= (p.Gly1034=) | |
2 | g.189045869G>T | CA430321229 | COL5A2 | c.3240C>A (p.Gly1080=) c.2079C>A (p.Gly693=) c.3102C>A (p.Gly1034=) | |
2 | g.189045870C>A | CA349862653 | COL5A2 | c.3239G>T (p.Gly1080Val) c.2078G>T (p.Gly693Val) c.3101G>T (p.Gly1034Val) | |
2 | g.189045870C= | CA1315418841 | COL5A2 | c.3239G= (p.Gly1080=) c.2078G= (p.Gly693=) c.3101G= (p.Gly1034=) | |
2 | g.189045870C>G | CA349862656 | COL5A2 | c.3239G>C (p.Gly1080Ala) c.2078G>C (p.Gly693Ala) c.3101G>C (p.Gly1034Ala) | |
2 | g.189045870C>T | CA349862659 | COL5A2 | c.3239G>A (p.Gly1080Asp) c.2078G>A (p.Gly693Asp) c.3101G>A (p.Gly1034Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189045871C>A | CA349862663 | COL5A2 | c.3238G>T (p.Gly1080Cys) c.2077G>T (p.Gly693Cys) c.3100G>T (p.Gly1034Cys) | |
2 | g.189045871C>G | CA349862666 | COL5A2 | c.3238G>C (p.Gly1080Arg) c.2077G>C (p.Gly693Arg) c.3100G>C (p.Gly1034Arg) | |
2 | g.189045871C>T | CA349862669 | COL5A2 | c.3238G>A (p.Gly1080Ser) c.2077G>A (p.Gly693Ser) c.3100G>A (p.Gly1034Ser) | |
2 | g.189045872T>A | CA430321233 | COL5A2 | c.3237A>T (p.Pro1079=) c.2076A>T (p.Pro692=) c.3099A>T (p.Pro1033=) | |
2 | g.189045872T>C | CA430321234 | COL5A2 | c.3237A>G (p.Pro1079=) c.2076A>G (p.Pro692=) c.3099A>G (p.Pro1033=) | |
2 | g.189045872T>G | CA430321235 | COL5A2 | c.3237A>C (p.Pro1079=) c.2076A>C (p.Pro692=) c.3099A>C (p.Pro1033=) | gnomAD v4 |
2 | g.189045873G>A | CA349862676 | COL5A2 | c.3236C>T (p.Pro1079Leu) c.2075C>T (p.Pro692Leu) c.3098C>T (p.Pro1033Leu) | |
2 | g.189045873G>C | CA349862680 | COL5A2 | c.3236C>G (p.Pro1079Arg) c.2075C>G (p.Pro692Arg) c.3098C>G (p.Pro1033Arg) | |
2 | g.189045873G>T | CA349862673 | COL5A2 | c.3236C>A (p.Pro1079Gln) c.2075C>A (p.Pro692Gln) c.3098C>A (p.Pro1033Gln) | gnomAD v4 |
2 | g.189045874G>A | CA349862682 | COL5A2 | c.3235C>T (p.Pro1079Ser) c.2074C>T (p.Pro692Ser) c.3097C>T (p.Pro1033Ser) | |
2 | g.189045874G>C | CA349862684 | COL5A2 | c.3235C>G (p.Pro1079Ala) c.2074C>G (p.Pro692Ala) c.3097C>G (p.Pro1033Ala) | |
2 | g.189045874G>T | CA349862687 | COL5A2 | c.3235C>A (p.Pro1079Thr) c.2074C>A (p.Pro692Thr) c.3097C>A (p.Pro1033Thr) | |
2 | g.189045875C>A | CA430321240 | COL5A2 | c.3234G>T (p.Leu1078=) c.2073G>T (p.Leu691=) c.3096G>T (p.Leu1032=) | |
2 | g.189045875C>G | CA430321241 | COL5A2 | c.3234G>C (p.Leu1078=) c.2073G>C (p.Leu691=) c.3096G>C (p.Leu1032=) | |
2 | g.189045875C>T | CA430321242 | COL5A2 | c.3234G>A (p.Leu1078=) c.2073G>A (p.Leu691=) c.3096G>A (p.Leu1032=) | gnomAD v4 |
2 | g.189045876A>C | CA349862691 | COL5A2 | c.3233T>G (p.Leu1078Arg) c.2072T>G (p.Leu691Arg) c.3095T>G (p.Leu1032Arg) | |
2 | g.189045876A>G | CA349862693 | COL5A2 | c.3233T>C (p.Leu1078Pro) c.2072T>C (p.Leu691Pro) c.3095T>C (p.Leu1032Pro) | |
2 | g.189045876A>T | CA349862696 | COL5A2 | c.3233T>A (p.Leu1078Gln) c.2072T>A (p.Leu691Gln) c.3095T>A (p.Leu1032Gln) | |
2 | g.189045877G>A | CA430321243 | COL5A2 | c.3232C>T (p.Leu1078=) c.2071C>T (p.Leu691=) c.3094C>T (p.Leu1032=) | dbSNP |
2 | g.189045877G>C | CA349862699 | COL5A2 | c.3232C>G (p.Leu1078Val) c.2071C>G (p.Leu691Val) c.3094C>G (p.Leu1032Val) | ClinVar gnomAD v4 |
2 | g.189045877G= | CA1315418844 | COL5A2 | c.3232C= (p.Leu1078=) c.2071C= (p.Leu691=) c.3094C= (p.Leu1032=) | |
2 | g.189045877G>T | CA349862700 | COL5A2 | c.3232C>A (p.Leu1078Met) c.2071C>A (p.Leu691Met) c.3094C>A (p.Leu1032Met) | |
2 | g.189045878A>C | CA430321245 | COL5A2 | c.3231T>G (p.Gly1077=) c.2070T>G (p.Gly690=) c.3093T>G (p.Gly1031=) | |
2 | g.189045878A>G | CA430321246 | COL5A2 | c.3231T>C (p.Gly1077=) c.2070T>C (p.Gly690=) c.3093T>C (p.Gly1031=) | |
2 | g.189045878A>T | CA430321247 | COL5A2 | c.3231T>A (p.Gly1077=) c.2070T>A (p.Gly690=) c.3093T>A (p.Gly1031=) | |
2 | g.189045879C>A | CA349862701 | COL5A2 | c.3230G>T (p.Gly1077Val) c.2069G>T (p.Gly690Val) c.3092G>T (p.Gly1031Val) | |
2 | g.189045879C= | CA1315418846 | COL5A2 | c.3230G= (p.Gly1077=) c.2069G= (p.Gly690=) c.3092G= (p.Gly1031=) | |
2 | g.189045879C>G | CA349862702 | COL5A2 | c.3230G>C (p.Gly1077Ala) c.2069G>C (p.Gly690Ala) c.3092G>C (p.Gly1031Ala) | |
2 | g.189045879C>T | CA349862703 | COL5A2 | c.3230G>A (p.Gly1077Asp) c.2069G>A (p.Gly690Asp) c.3092G>A (p.Gly1031Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045880del | CA2586963963 | COL5A2 | c.3230del (p.Gly1077ValfsTer?) c.2069del (p.Gly690ValfsTer?) c.3092del (p.Gly1031ValfsTer?) | ClinVar |
2 | g.189045880C>A | CA349862705 | COL5A2 | c.3229G>T (p.Gly1077Cys) c.2068G>T (p.Gly690Cys) c.3091G>T (p.Gly1031Cys) | |
2 | g.189045880C= | CA1315418848 | COL5A2 | c.3229G= (p.Gly1077=) c.2068G= (p.Gly690=) c.3091G= (p.Gly1031=) | |
2 | g.189045880C>G | CA349862707 | COL5A2 | c.3229G>C (p.Gly1077Arg) c.2068G>C (p.Gly690Arg) c.3091G>C (p.Gly1031Arg) | dbSNP |
2 | g.189045880C>T | CA2022060 | COL5A2 | c.3229G>A (p.Gly1077Ser) c.2068G>A (p.Gly690Ser) c.3091G>A (p.Gly1031Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189045881T>A | CA430321249 | COL5A2 | c.3228A>T (p.Ala1076=) c.2067A>T (p.Ala689=) c.3090A>T (p.Ala1030=) | dbSNP gnomAD v4 |
2 | g.189045881T>C | CA430321250 | COL5A2 | c.3228A>G (p.Ala1076=) c.2067A>G (p.Ala689=) c.3090A>G (p.Ala1030=) | |
2 | g.189045881T>G | CA430321251 | COL5A2 | c.3228A>C (p.Ala1076=) c.2067A>C (p.Ala689=) c.3090A>C (p.Ala1030=) | |
2 | g.189045881T= | CA1315418852 | COL5A2 | c.3228A= (p.Ala1076=) c.2067A= (p.Ala689=) c.3090A= (p.Ala1030=) | |
2 | g.189045882G>A | CA2022061 | COL5A2 | c.3227C>T (p.Ala1076Val) c.2066C>T (p.Ala689Val) c.3089C>T (p.Ala1030Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189045882G>C | CA349862711 | COL5A2 | c.3227C>G (p.Ala1076Gly) c.2066C>G (p.Ala689Gly) c.3089C>G (p.Ala1030Gly) | |
2 | g.189045882G= | CA1315418856 | COL5A2 | c.3227C= (p.Ala1076=) c.2066C= (p.Ala689=) c.3089C= (p.Ala1030=) | |
2 | g.189045882G>T | CA349862714 | COL5A2 | c.3227C>A (p.Ala1076Glu) c.2066C>A (p.Ala689Glu) c.3089C>A (p.Ala1030Glu) | gnomAD v4 |
2 | g.189045883C>A | CA349862717 | COL5A2 | c.3226G>T (p.Ala1076Ser) c.2065G>T (p.Ala689Ser) c.3088G>T (p.Ala1030Ser) | |
2 | g.189045883C>G | CA349862721 | COL5A2 | c.3226G>C (p.Ala1076Pro) c.2065G>C (p.Ala689Pro) c.3088G>C (p.Ala1030Pro) | ClinVar dbSNP |
2 | g.189045883C>T | CA349862723 | COL5A2 | c.3226G>A (p.Ala1076Thr) c.2065G>A (p.Ala689Thr) c.3088G>A (p.Ala1030Thr) | |
2 | g.189045884A>C | CA430321255 | COL5A2 | c.3225T>G (p.Pro1075=) c.2064T>G (p.Pro688=) c.3087T>G (p.Pro1029=) | |
2 | g.189045884A>G | CA430321257 | COL5A2 | c.3225T>C (p.Pro1075=) c.2064T>C (p.Pro688=) c.3087T>C (p.Pro1029=) | |
2 | g.189045884A>T | CA430321256 | COL5A2 | c.3225T>A (p.Pro1075=) c.2064T>A (p.Pro688=) c.3087T>A (p.Pro1029=) | |
2 | g.189045885G>A | CA349862727 | COL5A2 | c.3224C>T (p.Pro1075Leu) c.2063C>T (p.Pro688Leu) c.3086C>T (p.Pro1029Leu) | |
2 | g.189045885G>C | CA349862732 | COL5A2 | c.3224C>G (p.Pro1075Arg) c.2063C>G (p.Pro688Arg) c.3086C>G (p.Pro1029Arg) | gnomAD v4 |
2 | g.189045885G>T | CA349862729 | COL5A2 | c.3224C>A (p.Pro1075His) c.2063C>A (p.Pro688His) c.3086C>A (p.Pro1029His) | |
2 | g.189045886G>A | CA62590031 | COL5A2 | c.3223C>T (p.Pro1075Ser) c.2062C>T (p.Pro688Ser) c.3085C>T (p.Pro1029Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189045886G>C | CA349862736 | COL5A2 | c.3223C>G (p.Pro1075Ala) c.2062C>G (p.Pro688Ala) c.3085C>G (p.Pro1029Ala) | |
2 | g.189045886G= | CA1315418863 | COL5A2 | c.3223C= (p.Pro1075=) c.2062C= (p.Pro688=) c.3085C= (p.Pro1029=) | |
2 | g.189045886G>T | CA349862738 | COL5A2 | c.3223C>A (p.Pro1075Thr) c.2062C>A (p.Pro688Thr) c.3085C>A (p.Pro1029Thr) | |
2 | g.189045887C>A | CA2022063 | COL5A2 | c.3222G>T (p.Gly1074=) c.2061G>T (p.Gly687=) c.3084G>T (p.Gly1028=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189045887C= | CA1315418874 | COL5A2 | c.3222G= (p.Gly1074=) c.2061G= (p.Gly687=) c.3084G= (p.Gly1028=) | |
2 | g.189045887C>G | CA430321258 | COL5A2 | c.3222G>C (p.Gly1074=) c.2061G>C (p.Gly687=) c.3084G>C (p.Gly1028=) | |
2 | g.189045887C>T | CA2022062 | COL5A2 | c.3222G>A (p.Gly1074=) c.2061G>A (p.Gly687=) c.3084G>A (p.Gly1028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045888C>A | CA349862750 | COL5A2 | c.3221G>T (p.Gly1074Val) c.2060G>T (p.Gly687Val) c.3083G>T (p.Gly1028Val) | |
2 | g.189045888C>G | CA349862754 | COL5A2 | c.3221G>C (p.Gly1074Ala) c.2060G>C (p.Gly687Ala) c.3083G>C (p.Gly1028Ala) | |
2 | g.189045888C>T | CA349862748 | COL5A2 | c.3221G>A (p.Gly1074Glu) c.2060G>A (p.Gly687Glu) c.3083G>A (p.Gly1028Glu) | |
2 | g.189045889C>A | CA349862765 | COL5A2 | c.3220G>T (p.Gly1074Trp) c.2059G>T (p.Gly687Trp) c.3082G>T (p.Gly1028Trp) | |
2 | g.189045889C>G | CA349862758 | COL5A2 | c.3220G>C (p.Gly1074Arg) c.2059G>C (p.Gly687Arg) c.3082G>C (p.Gly1028Arg) | |
2 | g.189045889C>T | CA349862761 | COL5A2 | c.3220G>A (p.Gly1074Arg) c.2059G>A (p.Gly687Arg) c.3082G>A (p.Gly1028Arg) | |
2 | g.189045890A>C | CA430321262 | COL5A2 | c.3219T>G (p.Pro1073=) c.2058T>G (p.Pro686=) c.3081T>G (p.Pro1027=) | |
2 | g.189045890A>G | CA430321263 | COL5A2 | c.3219T>C (p.Pro1073=) c.2058T>C (p.Pro686=) c.3081T>C (p.Pro1027=) | COSMIC |
2 | g.189045890A>T | CA430321264 | COL5A2 | c.3219T>A (p.Pro1073=) c.2058T>A (p.Pro686=) c.3081T>A (p.Pro1027=) | |
2 | g.189045891G>A | CA349862768 | COL5A2 | c.3218C>T (p.Pro1073Leu) c.2057C>T (p.Pro686Leu) c.3080C>T (p.Pro1027Leu) | |
2 | g.189045891G>C | CA62590057 | COL5A2 | c.3218C>G (p.Pro1073Arg) c.2057C>G (p.Pro686Arg) c.3080C>G (p.Pro1027Arg) | dbSNP |
2 | g.189045891G= | CA1315418879 | COL5A2 | c.3218C= (p.Pro1073=) c.2057C= (p.Pro686=) c.3080C= (p.Pro1027=) | |
2 | g.189045891G>T | CA349862771 | COL5A2 | c.3218C>A (p.Pro1073His) c.2057C>A (p.Pro686His) c.3080C>A (p.Pro1027His) | gnomAD v4 |
2 | g.189045892G>A | CA349862774 | COL5A2 | c.3217C>T (p.Pro1073Ser) c.2056C>T (p.Pro686Ser) c.3079C>T (p.Pro1027Ser) | |
2 | g.189045892G>C | CA349862776 | COL5A2 | c.3217C>G (p.Pro1073Ala) c.2056C>G (p.Pro686Ala) c.3079C>G (p.Pro1027Ala) | |
2 | g.189045892G>T | CA349862779 | COL5A2 | c.3217C>A (p.Pro1073Thr) c.2056C>A (p.Pro686Thr) c.3079C>A (p.Pro1027Thr) | |
2 | g.189045893G>A | CA430321265 | COL5A2 | c.3216C>T (p.Asp1072=) c.2055C>T (p.Asp685=) c.3078C>T (p.Asp1026=) | |
2 | g.189045893G>C | CA349862782 | COL5A2 | c.3216C>G (p.Asp1072Glu) c.2055C>G (p.Asp685Glu) c.3078C>G (p.Asp1026Glu) | |
2 | g.189045893G>T | CA349862785 | COL5A2 | c.3216C>A (p.Asp1072Glu) c.2055C>A (p.Asp685Glu) c.3078C>A (p.Asp1026Glu) | |
2 | g.189045894T>A | CA349862791 | COL5A2 | c.3215A>T (p.Asp1072Val) c.2054A>T (p.Asp685Val) c.3077A>T (p.Asp1026Val) | |
2 | g.189045894T>C | CA349862792 | COL5A2 | c.3215A>G (p.Asp1072Gly) c.2054A>G (p.Asp685Gly) c.3077A>G (p.Asp1026Gly) | |
2 | g.189045894T>G | CA349862796 | COL5A2 | c.3215A>C (p.Asp1072Ala) c.2054A>C (p.Asp685Ala) c.3077A>C (p.Asp1026Ala) | |
2 | g.189045895C>A | CA349862808 | COL5A2 | c.3214G>T (p.Asp1072Tyr) c.2053G>T (p.Asp685Tyr) c.3076G>T (p.Asp1026Tyr) | gnomAD v4 |
2 | g.189045895C>G | CA349862805 | COL5A2 | c.3214G>C (p.Asp1072His) c.2053G>C (p.Asp685His) c.3076G>C (p.Asp1026His) | |
2 | g.189045895C>T | CA349862800 | COL5A2 | c.3214G>A (p.Asp1072Asn) c.2053G>A (p.Asp685Asn) c.3076G>A (p.Asp1026Asn) | ClinVar |
2 | g.189045896T>A | CA430321266 | COL5A2 | c.3213A>T (p.Gly1071=) c.2052A>T (p.Gly684=) c.3075A>T (p.Gly1025=) | |
2 | g.189045896T>C | CA430321268 | COL5A2 | c.3213A>G (p.Gly1071=) c.2052A>G (p.Gly684=) c.3075A>G (p.Gly1025=) | |
2 | g.189045896T>G | CA430321267 | COL5A2 | c.3213A>C (p.Gly1071=) c.2052A>C (p.Gly684=) c.3075A>C (p.Gly1025=) | |
2 | g.189045897C>A | CA349862815 | COL5A2 | c.3212G>T (p.Gly1071Val) c.2051G>T (p.Gly684Val) c.3074G>T (p.Gly1025Val) | |
2 | g.189045897C>G | CA349862818 | COL5A2 | c.3212G>C (p.Gly1071Ala) c.2051G>C (p.Gly684Ala) c.3074G>C (p.Gly1025Ala) | |
2 | g.189045897C>T | CA349862833 | COL5A2 | c.3212G>A (p.Gly1071Glu) c.2051G>A (p.Gly684Glu) c.3074G>A (p.Gly1025Glu) | |
2 | g.189045898C>A | CA349862837 | COL5A2 | c.3211G>T (p.Gly1071Ter) c.2050G>T (p.Gly684Ter) c.3073G>T (p.Gly1025Ter) | |
2 | g.189045898C>G | CA349862839 | COL5A2 | c.3211G>C (p.Gly1071Arg) c.2050G>C (p.Gly684Arg) c.3073G>C (p.Gly1025Arg) | |
2 | g.189045898C>T | CA349862840 | COL5A2 | c.3211G>A (p.Gly1071Arg) c.2050G>A (p.Gly684Arg) c.3073G>A (p.Gly1025Arg) | |
2 | g.189045899A>C | CA430321270 | COL5A2 | c.3210T>G (p.Arg1070=) c.2049T>G (p.Arg683=) c.3072T>G (p.Arg1024=) | |
2 | g.189045899A>G | CA430321271 | COL5A2 | c.3210T>C (p.Arg1070=) c.2049T>C (p.Arg683=) c.3072T>C (p.Arg1024=) | |
2 | g.189045899A>T | CA430321272 | COL5A2 | c.3210T>A (p.Arg1070=) c.2049T>A (p.Arg683=) c.3072T>A (p.Arg1024=) | |
2 | g.189045900C>A | CA349862844 | COL5A2 | c.3209G>T (p.Arg1070Leu) c.2048G>T (p.Arg683Leu) c.3071G>T (p.Arg1024Leu) | |
2 | g.189045900C= | CA1315418884 | COL5A2 | c.3209G= (p.Arg1070=) c.2048G= (p.Arg683=) c.3071G= (p.Arg1024=) | |
2 | g.189045900C>G | CA349862847 | COL5A2 | c.3209G>C (p.Arg1070Pro) c.2048G>C (p.Arg683Pro) c.3071G>C (p.Arg1024Pro) | |
2 | g.189045900C>T | CA245756 | COL5A2 | c.3209G>A (p.Arg1070His) c.2048G>A (p.Arg683His) c.3071G>A (p.Arg1024His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189045901G>A | CA324192 | COL5A2 | c.3208C>T (p.Arg1070Cys) c.2047C>T (p.Arg683Cys) c.3070C>T (p.Arg1024Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189045901G>C | CA349862858 | COL5A2 | c.3208C>G (p.Arg1070Gly) c.2047C>G (p.Arg683Gly) c.3070C>G (p.Arg1024Gly) | |
2 | g.189045901G= | CA1315418891 | COL5A2 | c.3208C= (p.Arg1070=) c.2047C= (p.Arg683=) c.3070C= (p.Arg1024=) | |
2 | g.189045901G>T | CA349862860 | COL5A2 | c.3208C>A (p.Arg1070Ser) c.2047C>A (p.Arg683Ser) c.3070C>A (p.Arg1024Ser) | |
2 | g.189045902A>C | CA349862864 | COL5A2 | c.3207T>G (p.Asp1069Glu) c.2046T>G (p.Asp682Glu) c.3069T>G (p.Asp1023Glu) | |
2 | g.189045902A>G | CA430321273 | COL5A2 | c.3207T>C (p.Asp1069=) c.2046T>C (p.Asp682=) c.3069T>C (p.Asp1023=) | ClinVar gnomAD v4 |
2 | g.189045902A>T | CA349862867 | COL5A2 | c.3207T>A (p.Asp1069Glu) c.2046T>A (p.Asp682Glu) c.3069T>A (p.Asp1023Glu) | |
2 | g.189045903T>A | CA349862895 | COL5A2 | c.3206A>T (p.Asp1069Val) c.2045A>T (p.Asp682Val) c.3068A>T (p.Asp1023Val) | |
2 | g.189045903T>C | CA349862899 | COL5A2 | c.3206A>G (p.Asp1069Gly) c.2045A>G (p.Asp682Gly) c.3068A>G (p.Asp1023Gly) | gnomAD v4 |
2 | g.189045903T>G | CA349862881 | COL5A2 | c.3206A>C (p.Asp1069Ala) c.2045A>C (p.Asp682Ala) c.3068A>C (p.Asp1023Ala) | |
2 | g.189045904C>A | CA349862903 | COL5A2 | c.3205G>T (p.Asp1069Tyr) c.2044G>T (p.Asp682Tyr) c.3067G>T (p.Asp1023Tyr) | |
2 | g.189045904C>G | CA349862905 | COL5A2 | c.3205G>C (p.Asp1069His) c.2044G>C (p.Asp682His) c.3067G>C (p.Asp1023His) | |
2 | g.189045904C>T | CA349862913 | COL5A2 | c.3205G>A (p.Asp1069Asn) c.2044G>A (p.Asp682Asn) c.3067G>A (p.Asp1023Asn) | |
2 | g.189045905A>C | CA430321278 | COL5A2 | c.3204T>G (p.Gly1068=) c.2043T>G (p.Gly681=) c.3066T>G (p.Gly1022=) | |
2 | g.189045905A>G | CA430321279 | COL5A2 | c.3204T>C (p.Gly1068=) c.2043T>C (p.Gly681=) c.3066T>C (p.Gly1022=) | |
2 | g.189045905A>T | CA430321277 | COL5A2 | c.3204T>A (p.Gly1068=) c.2043T>A (p.Gly681=) c.3066T>A (p.Gly1022=) |