Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
2 | g.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
2 | g.189004072G>A | CA349844050 | COL3A1 | c.2653G>A (p.Gly885Arg) c.2752G>A (p.Gly918Arg) c.2527+1036G>A (n.2527+1036G>A) | ClinVar dbSNP |
2 | g.189004072G>C | CA349844054 | COL3A1 | c.2653G>C (p.Gly885Arg) c.2752G>C (p.Gly918Arg) c.2527+1036G>C (n.2527+1036G>C) | |
2 | g.189004072G= | CA1315403051 | COL3A1 | c.2653G= (p.Gly885=) c.2752G= (p.Gly918=) c.2527+1036G= (n.2527+1036G=) | |
2 | g.189004072G>T | CA349844052 | COL3A1 | c.2653G>T (p.Gly885Ter) c.2752G>T (p.Gly918Ter) c.2527+1036G>T (n.2527+1036G>T) | |
2 | g.189004073G>A | CA005646 | COL3A1 | c.2654G>A (p.Gly885Glu) c.2753G>A (p.Gly918Glu) c.2527+1037G>A (n.2527+1037G>A) | ClinVar dbSNP |
2 | g.189004073G>C | CA349844058 | COL3A1 | c.2654G>C (p.Gly885Ala) c.2753G>C (p.Gly918Ala) c.2527+1037G>C (n.2527+1037G>C) | |
2 | g.189004073G= | CA1315403052 | COL3A1 | c.2654G= (p.Gly885=) c.2753G= (p.Gly918=) c.2527+1037G= (n.2527+1037G=) | |
2 | g.189004073G>T | CA349844060 | COL3A1 | c.2654G>T (p.Gly885Val) c.2753G>T (p.Gly918Val) c.2527+1037G>T (n.2527+1037G>T) | |
2 | g.189004074A>C | CA430312008 | COL3A1 | c.2655A>C (p.Gly885=) c.2754A>C (p.Gly918=) c.2527+1038A>C (n.2527+1038A>C) | |
2 | g.189004074A>G | CA430312010 | COL3A1 | c.2655A>G (p.Gly885=) c.2754A>G (p.Gly918=) c.2527+1038A>G (n.2527+1038A>G) | |
2 | g.189004074A>T | CA430312009 | COL3A1 | c.2655A>T (p.Gly885=) c.2754A>T (p.Gly918=) c.2527+1038A>T (n.2527+1038A>T) | |
2 | g.189004075G>A | CA075582 | COL3A1 | c.2656G>A (p.Val886Met) c.2755G>A (p.Val919Met) c.2527+1039G>A (n.2527+1039G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189004075G>C | CA349844063 | COL3A1 | c.2656G>C (p.Val886Leu) c.2755G>C (p.Val919Leu) c.2527+1039G>C (n.2527+1039G>C) | |
2 | g.189004075G= | CA1315403053 | COL3A1 | c.2656G= (p.Val886=) c.2755G= (p.Val919=) c.2527+1039G= (n.2527+1039G=) | |
2 | g.189004075G>T | CA349844066 | COL3A1 | c.2656G>T (p.Val886Leu) c.2755G>T (p.Val919Leu) c.2527+1039G>T (n.2527+1039G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004076T>A | CA349844068 | COL3A1 | c.2657T>A (p.Val886Glu) c.2756T>A (p.Val919Glu) c.2527+1040T>A (n.2527+1040T>A) | |
2 | g.189004076T>C | CA349844070 | COL3A1 | c.2657T>C (p.Val886Ala) c.2756T>C (p.Val919Ala) c.2527+1040T>C (n.2527+1040T>C) | dbSNP gnomAD v4 |
2 | g.189004076T>G | CA349844072 | COL3A1 | c.2657T>G (p.Val886Gly) c.2756T>G (p.Val919Gly) c.2527+1040T>G (n.2527+1040T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004076T= | CA1315403054 | COL3A1 | c.2657T= (p.Val886=) c.2756T= (p.Val919=) c.2527+1040T= (n.2527+1040T=) | |
2 | g.189004077G>A | CA430312013 | COL3A1 | c.2658G>A (p.Val886=) c.2757G>A (p.Val919=) c.2527+1041G>A (n.2527+1041G>A) | gnomAD v4 |
2 | g.189004077G>C | CA430312015 | COL3A1 | c.2658G>C (p.Val886=) c.2757G>C (p.Val919=) c.2527+1041G>C (n.2527+1041G>C) | |
2 | g.189004077G>T | CA430312016 | COL3A1 | c.2658G>T (p.Val886=) c.2757G>T (p.Val919=) c.2527+1041G>T (n.2527+1041G>T) | |
2 | g.189004078T>A | CA349844073 | COL3A1 | c.2659T>A (p.Ser887Thr) c.2758T>A (p.Ser920Thr) c.2527+1042T>A (n.2527+1042T>A) | gnomAD v4 |
2 | g.189004078T>C | CA349844075 | COL3A1 | c.2659T>C (p.Ser887Pro) c.2758T>C (p.Ser920Pro) c.2527+1042T>C (n.2527+1042T>C) | |
2 | g.189004078T>G | CA349844077 | COL3A1 | c.2659T>G (p.Ser887Ala) c.2758T>G (p.Ser920Ala) c.2527+1042T>G (n.2527+1042T>G) | |
2 | g.189004079C>A | CA349844085 | COL3A1 | c.2660C>A (p.Ser887Tyr) c.2759C>A (p.Ser920Tyr) c.2527+1043C>A (n.2527+1043C>A) | |
2 | g.189004079C>G | CA349844082 | COL3A1 | c.2660C>G (p.Ser887Cys) c.2759C>G (p.Ser920Cys) c.2527+1043C>G (n.2527+1043C>G) | |
2 | g.189004079C>T | CA349844079 | COL3A1 | c.2660C>T (p.Ser887Phe) c.2759C>T (p.Ser920Phe) c.2527+1043C>T (n.2527+1043C>T) | |
2 | g.189004080T>A | CA430312022 | COL3A1 | c.2661T>A (p.Ser887=) c.2760T>A (p.Ser920=) c.2527+1044T>A (n.2527+1044T>A) | |
2 | g.189004080T>C | CA430312023 | COL3A1 | c.2661T>C (p.Ser887=) c.2760T>C (p.Ser920=) c.2527+1044T>C (n.2527+1044T>C) | gnomAD v4 |
2 | g.189004080T>G | CA430312024 | COL3A1 | c.2661T>G (p.Ser887=) c.2760T>G (p.Ser920=) c.2527+1044T>G (n.2527+1044T>G) | |
2 | g.189004081G>A | CA349844087 | COL3A1 | c.2662G>A (p.Gly888Arg) c.2761G>A (p.Gly921Arg) c.2527+1045G>A (n.2527+1045G>A) | |
2 | g.189004081G>C | CA349844090 | COL3A1 | c.2662G>C (p.Gly888Arg) c.2761G>C (p.Gly921Arg) c.2527+1045G>C (n.2527+1045G>C) | |
2 | g.189004081G>T | CA349844092 | COL3A1 | c.2662G>T (p.Gly888Ter) c.2761G>T (p.Gly921Ter) c.2527+1045G>T (n.2527+1045G>T) | |
2 | g.189004082G>A | CA349844094 | COL3A1 | c.2663G>A (p.Gly888Glu) c.2762G>A (p.Gly921Glu) c.2527+1046G>A (n.2527+1046G>A) | ClinVar dbSNP |
2 | g.189004082G>C | CA349844096 | COL3A1 | c.2663G>C (p.Gly888Ala) c.2762G>C (p.Gly921Ala) c.2527+1046G>C (n.2527+1046G>C) | |
2 | g.189004082G= | CA1315403055 | COL3A1 | c.2663G= (p.Gly888=) c.2762G= (p.Gly921=) c.2527+1046G= (n.2527+1046G=) | |
2 | g.189004082G>T | CA349844098 | COL3A1 | c.2663G>T (p.Gly888Val) c.2762G>T (p.Gly921Val) c.2527+1046G>T (n.2527+1046G>T) | |
2 | g.189004083A>C | CA430312030 | COL3A1 | c.2664A>C (p.Gly888=) c.2763A>C (p.Gly921=) c.2527+1047A>C (n.2527+1047A>C) | |
2 | g.189004083A>G | CA430312031 | COL3A1 | c.2664A>G (p.Gly888=) c.2763A>G (p.Gly921=) c.2527+1047A>G (n.2527+1047A>G) | |
2 | g.189004083A>T | CA430312032 | COL3A1 | c.2664A>T (p.Gly888=) c.2763A>T (p.Gly921=) c.2527+1047A>T (n.2527+1047A>T) | |
2 | g.189004084C>A | CA349844101 | COL3A1 | c.2665C>A (p.Pro889Thr) c.2764C>A (p.Pro922Thr) c.2527+1048C>A (n.2527+1048C>A) | |
2 | g.189004084C>G | CA349844102 | COL3A1 | c.2665C>G (p.Pro889Ala) c.2764C>G (p.Pro922Ala) c.2527+1048C>G (n.2527+1048C>G) | |
2 | g.189004084C>T | CA349844105 | COL3A1 | c.2665C>T (p.Pro889Ser) c.2764C>T (p.Pro922Ser) c.2527+1048C>T (n.2527+1048C>T) | |
2 | g.189004085C>A | CA349844106 | COL3A1 | c.2666C>A (p.Pro889Gln) c.2765C>A (p.Pro922Gln) c.2527+1049C>A (n.2527+1049C>A) | |
2 | g.189004085C>G | CA349844108 | COL3A1 | c.2666C>G (p.Pro889Arg) c.2765C>G (p.Pro922Arg) c.2527+1049C>G (n.2527+1049C>G) | |
2 | g.189004085C>T | CA349844110 | COL3A1 | c.2666C>T (p.Pro889Leu) c.2765C>T (p.Pro922Leu) c.2527+1049C>T (n.2527+1049C>T) | gnomAD v4 |