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 |
2 | g.189004086A= | CA1315403056 | COL3A1 | c.2667A= (p.Pro889=) c.2766A= (p.Pro922=) c.2527+1050A= (n.2527+1050A=) | |
2 | g.189004086A>C | CA62557417 | COL3A1 | c.2667A>C (p.Pro889=) c.2766A>C (p.Pro922=) c.2527+1050A>C (n.2527+1050A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004086A>G | CA430312042 | COL3A1 | c.2667A>G (p.Pro889=) c.2766A>G (p.Pro922=) c.2527+1050A>G (n.2527+1050A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004086A>T | CA430312044 | COL3A1 | c.2667A>T (p.Pro889=) c.2766A>T (p.Pro922=) c.2527+1050A>T (n.2527+1050A>T) | |
2 | g.189004087A>C | CA349844113 | COL3A1 | c.2668A>C (p.Lys890Gln) c.2767A>C (p.Lys923Gln) c.2527+1051A>C (n.2527+1051A>C) | |
2 | g.189004087A>G | CA349844118 | COL3A1 | c.2668A>G (p.Lys890Glu) c.2767A>G (p.Lys923Glu) c.2527+1051A>G (n.2527+1051A>G) | |
2 | g.189004087A>T | CA349844115 | COL3A1 | c.2668A>T (p.Lys890Ter) c.2767A>T (p.Lys923Ter) c.2527+1051A>T (n.2527+1051A>T) | |
2 | g.189004088A>C | CA349844120 | COL3A1 | c.2669A>C (p.Lys890Thr) c.2768A>C (p.Lys923Thr) c.2527+1052A>C (n.2527+1052A>C) | gnomAD v4 |
2 | g.189004088A>G | CA349844123 | COL3A1 | c.2669A>G (p.Lys890Arg) c.2768A>G (p.Lys923Arg) c.2527+1052A>G (n.2527+1052A>G) | |
2 | g.189004088A>T | CA349844122 | COL3A1 | c.2669A>T (p.Lys890Ile) c.2768A>T (p.Lys923Ile) c.2527+1052A>T (n.2527+1052A>T) | |
2 | g.189004089A= | CA1315403057 | COL3A1 | c.2670A= (p.Lys890=) c.2769A= (p.Lys923=) c.2527+1053A= (n.2527+1053A=) | |
2 | g.189004089A>C | CA349844124 | COL3A1 | c.2670A>C (p.Lys890Asn) c.2769A>C (p.Lys923Asn) c.2527+1053A>C (n.2527+1053A>C) | |
2 | g.189004089A>G | CA430312048 | COL3A1 | c.2670A>G (p.Lys890=) c.2769A>G (p.Lys923=) c.2527+1053A>G (n.2527+1053A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004089A>T | CA349844125 | COL3A1 | c.2670A>T (p.Lys890Asn) c.2769A>T (p.Lys923Asn) c.2527+1053A>T (n.2527+1053A>T) | |
2 | g.189004090G>A | CA005653 | COL3A1 | c.2671G>A (p.Gly891Ser) c.2770G>A (p.Gly924Ser) c.2527+1054G>A (n.2527+1054G>A) | ClinVar dbSNP |
2 | g.189004090G>C | CA349844126 | COL3A1 | c.2671G>C (p.Gly891Arg) c.2770G>C (p.Gly924Arg) c.2527+1054G>C (n.2527+1054G>C) | |
2 | g.189004090G= | CA1315403058 | COL3A1 | c.2671G= (p.Gly891=) c.2770G= (p.Gly924=) c.2527+1054G= (n.2527+1054G=) | |
2 | g.189004090G>T | CA005659 | COL3A1 | c.2671G>T (p.Gly891Cys) c.2770G>T (p.Gly924Cys) c.2527+1054G>T (n.2527+1054G>T) | ClinVar dbSNP COSMIC |
2 | g.189004091G>A | CA005666 | COL3A1 | c.2672G>A (p.Gly891Asp) c.2771G>A (p.Gly924Asp) c.2527+1055G>A (n.2527+1055G>A) | ClinVar dbSNP |
2 | g.189004091G>C | CA349844127 | COL3A1 | c.2672G>C (p.Gly891Ala) c.2771G>C (p.Gly924Ala) c.2527+1055G>C (n.2527+1055G>C) | |
2 | g.189004091G= | CA1315403059 | COL3A1 | c.2672G= (p.Gly891=) c.2771G= (p.Gly924=) c.2527+1055G= (n.2527+1055G=) | |
2 | g.189004091G>T | CA005673 | COL3A1 | c.2672G>T (p.Gly891Val) c.2771G>T (p.Gly924Val) c.2527+1055G>T (n.2527+1055G>T) | ClinVar dbSNP |
2 | g.189004092T>A | CA430312052 | COL3A1 | c.2673T>A (p.Gly891=) c.2772T>A (p.Gly924=) c.2527+1056T>A (n.2527+1056T>A) | |
2 | g.189004092T>C | CA430312053 | COL3A1 | c.2673T>C (p.Gly891=) c.2772T>C (p.Gly924=) c.2527+1056T>C (n.2527+1056T>C) | |
2 | g.189004092T>G | CA430312054 | COL3A1 | c.2673T>G (p.Gly891=) c.2772T>G (p.Gly924=) c.2527+1056T>G (n.2527+1056T>G) | |
2 | g.189004093G>A | CA62557441 | COL3A1 | c.2674G>A (p.Asp892Asn) c.2773G>A (p.Asp925Asn) c.2527+1057G>A (n.2527+1057G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004093G>C | CA349844128 | COL3A1 | c.2674G>C (p.Asp892His) c.2773G>C (p.Asp925His) c.2527+1057G>C (n.2527+1057G>C) | |
2 | g.189004093G= | CA1315403060 | COL3A1 | c.2674G= (p.Asp892=) c.2773G= (p.Asp925=) c.2527+1057G= (n.2527+1057G=) | |
2 | g.189004093G>T | CA349844129 | COL3A1 | c.2674G>T (p.Asp892Tyr) c.2773G>T (p.Asp925Tyr) c.2527+1057G>T (n.2527+1057G>T) | |
2 | g.189004094A>C | CA349844130 | COL3A1 | c.2675A>C (p.Asp892Ala) c.2774A>C (p.Asp925Ala) c.2527+1058A>C (n.2527+1058A>C) | |
2 | g.189004094A>G | CA349844131 | COL3A1 | c.2675A>G (p.Asp892Gly) c.2774A>G (p.Asp925Gly) c.2527+1058A>G (n.2527+1058A>G) | |
2 | g.189004094A>T | CA349844132 | COL3A1 | c.2675A>T (p.Asp892Val) c.2774A>T (p.Asp925Val) c.2527+1058A>T (n.2527+1058A>T) | |
2 | g.189004095T>A | CA349844133 | COL3A1 | c.2676T>A (p.Asp892Glu) c.2775T>A (p.Asp925Glu) c.2527+1059T>A (n.2527+1059T>A) | |
2 | g.189004095T>C | CA430312056 | COL3A1 | c.2676T>C (p.Asp892=) c.2775T>C (p.Asp925=) c.2527+1059T>C (n.2527+1059T>C) | |
2 | g.189004095T>G | CA349844134 | COL3A1 | c.2676T>G (p.Asp892Glu) c.2775T>G (p.Asp925Glu) c.2527+1059T>G (n.2527+1059T>G) | |
2 | g.189004096G>A | CA349844135 | COL3A1 | c.2677G>A (p.Ala893Thr) c.2776G>A (p.Ala926Thr) c.2527+1060G>A (n.2527+1060G>A) | |
2 | g.189004096G>C | CA349844136 | COL3A1 | c.2677G>C (p.Ala893Pro) c.2776G>C (p.Ala926Pro) c.2527+1060G>C (n.2527+1060G>C) | gnomAD v4 |
2 | g.189004096G>T | CA349844137 | COL3A1 | c.2677G>T (p.Ala893Ser) c.2776G>T (p.Ala926Ser) c.2527+1060G>T (n.2527+1060G>T) | |
2 | g.189004097C>A | CA349844138 | COL3A1 | c.2678C>A (p.Ala893Asp) c.2777C>A (p.Ala926Asp) c.2527+1061C>A (n.2527+1061C>A) | |
2 | g.189004097C>G | CA349844139 | COL3A1 | c.2678C>G (p.Ala893Gly) c.2777C>G (p.Ala926Gly) c.2527+1061C>G (n.2527+1061C>G) | |
2 | g.189004097C>T | CA349844140 | COL3A1 | c.2678C>T (p.Ala893Val) c.2777C>T (p.Ala926Val) c.2527+1061C>T (n.2527+1061C>T) | |
2 | g.189004098T>A | CA430312057 | COL3A1 | c.2679T>A (p.Ala893=) c.2778T>A (p.Ala926=) c.2527+1062T>A (n.2527+1062T>A) | |
2 | g.189004098T>C | CA430312058 | COL3A1 | c.2679T>C (p.Ala893=) c.2778T>C (p.Ala926=) c.2527+1062T>C (n.2527+1062T>C) | |
2 | g.189004098T>G | CA430312059 | COL3A1 | c.2679T>G (p.Ala893=) c.2778T>G (p.Ala926=) c.2527+1062T>G (n.2527+1062T>G) | |
2 | g.189004099G>A | CA349844141 | COL3A1 | c.2680G>A (p.Gly894Ser) c.2779G>A (p.Gly927Ser) c.2527+1063G>A (n.2527+1063G>A) | |
2 | g.189004099G>C | CA349844142 | COL3A1 | c.2680G>C (p.Gly894Arg) c.2779G>C (p.Gly927Arg) c.2527+1063G>C (n.2527+1063G>C) | |
2 | g.189004099G>T | CA349844143 | COL3A1 | c.2680G>T (p.Gly894Cys) c.2779G>T (p.Gly927Cys) c.2527+1063G>T (n.2527+1063G>T) | |
2 | g.189004100G>A | CA005680 | COL3A1 | c.2681G>A (p.Gly894Asp) c.2780G>A (p.Gly927Asp) c.2527+1064G>A (n.2527+1064G>A) | ClinVar dbSNP |
2 | g.189004100G>C | CA349844144 | COL3A1 | c.2681G>C (p.Gly894Ala) c.2780G>C (p.Gly927Ala) c.2527+1064G>C (n.2527+1064G>C) | |
2 | g.189004100G= | CA1315403061 | COL3A1 | c.2681G= (p.Gly894=) c.2780G= (p.Gly927=) c.2527+1064G= (n.2527+1064G=) | |
2 | g.189004100G>T | CA349844145 | COL3A1 | c.2681G>T (p.Gly894Val) c.2780G>T (p.Gly927Val) c.2527+1064G>T (n.2527+1064G>T) | |
2 | g.189004101C>A | CA430312061 | COL3A1 | c.2682C>A (p.Gly894=) c.2781C>A (p.Gly927=) c.2527+1065C>A (n.2527+1065C>A) | |
2 | g.189004101C>G | CA430312065 | COL3A1 | c.2682C>G (p.Gly894=) c.2781C>G (p.Gly927=) c.2527+1065C>G (n.2527+1065C>G) | |
2 | g.189004101C>T | CA430312064 | COL3A1 | c.2682C>T (p.Gly894=) c.2781C>T (p.Gly927=) c.2527+1065C>T (n.2527+1065C>T) | |
2 | g.189004102C>A | CA349844147 | COL3A1 | c.2683C>A (p.Gln895Lys) c.2782C>A (p.Gln928Lys) c.2527+1066C>A (n.2527+1066C>A) | |
2 | g.189004102C>G | CA349844151 | COL3A1 | c.2683C>G (p.Gln895Glu) c.2782C>G (p.Gln928Glu) c.2527+1066C>G (n.2527+1066C>G) | |
2 | g.189004102C>T | CA349844149 | COL3A1 | c.2683C>T (p.Gln895Ter) c.2782C>T (p.Gln928Ter) c.2527+1066C>T (n.2527+1066C>T) | |
2 | g.189004103A>C | CA349844152 | COL3A1 | c.2684A>C (p.Gln895Pro) c.2783A>C (p.Gln928Pro) c.2527+1067A>C (n.2527+1067A>C) | |
2 | g.189004103A>G | CA349844154 | COL3A1 | c.2684A>G (p.Gln895Arg) c.2783A>G (p.Gln928Arg) c.2527+1067A>G (n.2527+1067A>G) | |
2 | g.189004103A>T | CA349844156 | COL3A1 | c.2684A>T (p.Gln895Leu) c.2783A>T (p.Gln928Leu) c.2527+1067A>T (n.2527+1067A>T) | |
2 | g.189004104A>C | CA349844160 | COL3A1 | c.2685A>C (p.Gln895His) c.2784A>C (p.Gln928His) c.2527+1068A>C (n.2527+1068A>C) | ClinVar dbSNP gnomAD v4 |
2 | g.189004104A>G | CA430312069 | COL3A1 | c.2685A>G (p.Gln895=) c.2784A>G (p.Gln928=) c.2527+1068A>G (n.2527+1068A>G) | |
2 | g.189004104A>T | CA349844161 | COL3A1 | c.2685A>T (p.Gln895His) c.2784A>T (p.Gln928His) c.2527+1068A>T (n.2527+1068A>T) | |
2 | g.189004105C>A | CA349844164 | COL3A1 | c.2686C>A (p.Pro896Thr) c.2785C>A (p.Pro929Thr) c.2527+1069C>A (n.2527+1069C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004105C= | CA1315403062 | COL3A1 | c.2686C= (p.Pro896=) c.2785C= (p.Pro929=) c.2527+1069C= (n.2527+1069C=) | |
2 | g.189004105C>G | CA349844166 | COL3A1 | c.2686C>G (p.Pro896Ala) c.2785C>G (p.Pro929Ala) c.2527+1069C>G (n.2527+1069C>G) | |
2 | g.189004105C>T | CA349844169 | COL3A1 | c.2686C>T (p.Pro896Ser) c.2785C>T (p.Pro929Ser) c.2527+1069C>T (n.2527+1069C>T) | |
2 | g.189004106C>A | CA349844172 | COL3A1 | c.2687C>A (p.Pro896Gln) c.2786C>A (p.Pro929Gln) c.2527+1070C>A (n.2527+1070C>A) | |
2 | g.189004106C>G | CA349844174 | COL3A1 | c.2687C>G (p.Pro896Arg) c.2786C>G (p.Pro929Arg) c.2527+1070C>G (n.2527+1070C>G) | |
2 | g.189004106C>T | CA349844175 | COL3A1 | c.2687C>T (p.Pro896Leu) c.2786C>T (p.Pro929Leu) c.2527+1070C>T (n.2527+1070C>T) | |
2 | g.189004107A>C | CA430312071 | COL3A1 | c.2688A>C (p.Pro896=) c.2787A>C (p.Pro929=) c.2527+1071A>C (n.2527+1071A>C) | |
2 | g.189004107A>G | CA430312073 | COL3A1 | c.2688A>G (p.Pro896=) c.2787A>G (p.Pro929=) c.2527+1071A>G (n.2527+1071A>G) | |
2 | g.189004107A>T | CA430312072 | COL3A1 | c.2688A>T (p.Pro896=) c.2787A>T (p.Pro929=) c.2527+1071A>T (n.2527+1071A>T) | |
2 | g.189004108G>A | CA349844181 | COL3A1 | c.2689G>A (p.Gly897Arg) c.2788G>A (p.Gly930Arg) c.2527+1072G>A (n.2527+1072G>A) | COSMIC |
2 | g.189004108G>C | CA349844177 | COL3A1 | c.2689G>C (p.Gly897Arg) c.2788G>C (p.Gly930Arg) c.2527+1072G>C (n.2527+1072G>C) | |
2 | g.189004108G>T | CA349844179 | COL3A1 | c.2689G>T (p.Gly897Ter) c.2788G>T (p.Gly930Ter) c.2527+1072G>T (n.2527+1072G>T) | |
2 | g.189004109G>A | CA349844182 | COL3A1 | c.2690G>A (p.Gly897Glu) c.2789G>A (p.Gly930Glu) c.2527+1073G>A (n.2527+1073G>A) | COSMIC |
2 | g.189004109G>C | CA349844183 | COL3A1 | c.2690G>C (p.Gly897Ala) c.2789G>C (p.Gly930Ala) c.2527+1073G>C (n.2527+1073G>C) | |
2 | g.189004109G>T | CA349844185 | COL3A1 | c.2690G>T (p.Gly897Val) c.2789G>T (p.Gly930Val) c.2527+1073G>T (n.2527+1073G>T) | |
2 | g.189004110A>C | CA430312080 | COL3A1 | c.2691A>C (p.Gly897=) c.2790A>C (p.Gly930=) c.2527+1074A>C (n.2527+1074A>C) | |
2 | g.189004110A>G | CA430312081 | COL3A1 | c.2691A>G (p.Gly897=) c.2790A>G (p.Gly930=) c.2527+1074A>G (n.2527+1074A>G) | gnomAD v4 |
2 | g.189004110A>T | CA430312082 | COL3A1 | c.2691A>T (p.Gly897=) c.2790A>T (p.Gly930=) c.2527+1074A>T (n.2527+1074A>T) | |
2 | g.189004111G>A | CA349844188 | COL3A1 | c.2692G>A (p.Glu898Lys) c.2791G>A (p.Glu931Lys) c.2527+1075G>A (n.2527+1075G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189004111G>C | CA349844191 | COL3A1 | c.2692G>C (p.Glu898Gln) c.2791G>C (p.Glu931Gln) c.2527+1075G>C (n.2527+1075G>C) | ClinVar gnomAD v4 |
2 | g.189004111G= | CA1315403063 | COL3A1 | c.2692G= (p.Glu898=) c.2791G= (p.Glu931=) c.2527+1075G= (n.2527+1075G=) | |
2 | g.189004111G>T | CA349844192 | COL3A1 | c.2692G>T (p.Glu898Ter) c.2791G>T (p.Glu931Ter) c.2527+1075G>T (n.2527+1075G>T) | |
2 | g.189004112A>C | CA349844195 | COL3A1 | c.2693A>C (p.Glu898Ala) c.2792A>C (p.Glu931Ala) c.2527+1076A>C (n.2527+1076A>C) | |
2 | g.189004112A>G | CA349844197 | COL3A1 | c.2693A>G (p.Glu898Gly) c.2792A>G (p.Glu931Gly) c.2527+1076A>G (n.2527+1076A>G) | |
2 | g.189004112A>T | CA349844199 | COL3A1 | c.2693A>T (p.Glu898Val) c.2792A>T (p.Glu931Val) c.2527+1076A>T (n.2527+1076A>T) | |
2 | g.189004113G>A | CA430312085 | COL3A1 | c.2694G>A (p.Glu898=) c.2793G>A (p.Glu931=) c.2527+1077G>A (n.2527+1077G>A) | |
2 | g.189004113G>C | CA349844202 | COL3A1 | c.2694G>C (p.Glu898Asp) c.2793G>C (p.Glu931Asp) c.2527+1077G>C (n.2527+1077G>C) | |
2 | g.189004113G= | CA1315403064 | COL3A1 | c.2694G= (p.Glu898=) c.2793G= (p.Glu931=) c.2527+1077G= (n.2527+1077G=) | |
2 | g.189004113G>T | CA62557445 | COL3A1 | c.2694G>T (p.Glu898Asp) c.2793G>T (p.Glu931Asp) c.2527+1077G>T (n.2527+1077G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004114A>C | CA349844208 | COL3A1 | c.2695A>C (p.Lys899Gln) c.2794A>C (p.Lys932Gln) c.2527+1078A>C (n.2527+1078A>C) | |
2 | g.189004114A>G | CA349844210 | COL3A1 | c.2695A>G (p.Lys899Glu) c.2794A>G (p.Lys932Glu) c.2527+1078A>G (n.2527+1078A>G) | |
2 | g.189004114A>T | CA349844206 | COL3A1 | c.2695A>T (p.Lys899Ter) c.2794A>T (p.Lys932Ter) c.2527+1078A>T (n.2527+1078A>T) | |
2 | g.189004115A>C | CA349844216 | COL3A1 | c.2696A>C (p.Lys899Thr) c.2795A>C (p.Lys932Thr) c.2527+1079A>C (n.2527+1079A>C) | |
2 | g.189004115A>G | CA349844213 | COL3A1 | c.2696A>G (p.Lys899Arg) c.2795A>G (p.Lys932Arg) c.2527+1079A>G (n.2527+1079A>G) | |
2 | g.189004115A>T | CA349844215 | COL3A1 | c.2696A>T (p.Lys899Met) c.2795A>T (p.Lys932Met) c.2527+1079A>T (n.2527+1079A>T) | |
2 | g.189004116G>A | CA430312089 | COL3A1 | c.2697G>A (p.Lys899=) c.2796G>A (p.Lys932=) c.2527+1080G>A (n.2527+1080G>A) | |
2 | g.189004116G>C | CA349844220 | COL3A1 | c.2697G>C (p.Lys899Asn) c.2796G>C (p.Lys932Asn) c.2527+1080G>C (n.2527+1080G>C) | dbSNP |
2 | g.189004116G= | CA1315403065 | COL3A1 | c.2697G= (p.Lys899=) c.2796G= (p.Lys932=) c.2527+1080G= (n.2527+1080G=) | |
2 | g.189004116G>T | CA349844221 | COL3A1 | c.2697G>T (p.Lys899Asn) c.2796G>T (p.Lys932Asn) c.2527+1080G>T (n.2527+1080G>T) | |
2 | g.189004118dup | CA1139771222 | COL3A1 | c.2699dup (p.Ser901IlefsTer?) c.2798dup (p.Ser934IlefsTer?) c.2527+1082dup (n.2527+1082dup) | |
2 | g.189004117G>A | CA349844225 | COL3A1 | c.2698G>A (p.Gly900Arg) c.2797G>A (p.Gly933Arg) c.2527+1081G>A (n.2527+1081G>A) | ClinVar dbSNP COSMIC |
2 | g.189004117G>C | CA349844226 | COL3A1 | c.2698G>C (p.Gly900Arg) c.2797G>C (p.Gly933Arg) c.2527+1081G>C (n.2527+1081G>C) | |
2 | g.189004117G= | CA1315403066 | COL3A1 | c.2698G= (p.Gly900=) c.2797G= (p.Gly933=) c.2527+1081G= (n.2527+1081G=) | |
2 | g.189004117G>T | CA349844227 | COL3A1 | c.2698G>T (p.Gly900Ter) c.2797G>T (p.Gly933Ter) c.2527+1081G>T (n.2527+1081G>T) | ClinVar |
2 | g.189004118G>A | CA349844228 | COL3A1 | c.2699G>A (p.Gly900Glu) c.2798G>A (p.Gly933Glu) c.2527+1082G>A (n.2527+1082G>A) | COSMIC |
2 | g.189004118G>C | CA349844230 | COL3A1 | c.2699G>C (p.Gly900Ala) c.2798G>C (p.Gly933Ala) c.2527+1082G>C (n.2527+1082G>C) | |
2 | g.189004118G>T | CA349844231 | COL3A1 | c.2699G>T (p.Gly900Val) c.2798G>T (p.Gly933Val) c.2527+1082G>T (n.2527+1082G>T) | COSMIC |
2 | g.189004119A= | CA1315403067 | COL3A1 | c.2700A= (p.Gly900=) c.2799A= (p.Gly933=) c.2527+1083A= (n.2527+1083A=) | |
2 | g.189004119A>C | CA430312093 | COL3A1 | c.2700A>C (p.Gly900=) c.2799A>C (p.Gly933=) c.2527+1083A>C (n.2527+1083A>C) | |
2 | g.189004119A>G | CA430312094 | COL3A1 | c.2700A>G (p.Gly900=) c.2799A>G (p.Gly933=) c.2527+1083A>G (n.2527+1083A>G) | |
2 | g.189004119A>T | CA430312095 | COL3A1 | c.2700A>T (p.Gly900=) c.2799A>T (p.Gly933=) c.2527+1083A>T (n.2527+1083A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004120T>A | CA349844234 | COL3A1 | c.2701T>A (p.Ser901Thr) c.2800T>A (p.Ser934Thr) c.2527+1084T>A (n.2527+1084T>A) | |
2 | g.189004120T>C | CA349844236 | COL3A1 | c.2701T>C (p.Ser901Pro) c.2800T>C (p.Ser934Pro) c.2527+1084T>C (n.2527+1084T>C) | |
2 | g.189004120T>G | CA349844238 | COL3A1 | c.2701T>G (p.Ser901Ala) c.2800T>G (p.Ser934Ala) c.2527+1084T>G (n.2527+1084T>G) | |
2 | g.189004121del | CA2580065357 | COL3A1 | c.2702del (p.Ser901CysfsTer?) c.2801del (p.Ser934CysfsTer?) c.2527+1085del (n.2527+1085del) | ClinVar |
2 | g.189004121C>A | CA349844241 | COL3A1 | c.2702C>A (p.Ser901Ter) c.2801C>A (p.Ser934Ter) c.2527+1085C>A (n.2527+1085C>A) | |
2 | g.189004121C= | CA1315403068 | COL3A1 | c.2702C= (p.Ser901=) c.2801C= (p.Ser934=) c.2527+1085C= (n.2527+1085C=) | |
2 | g.189004121C>G | CA349844243 | COL3A1 | c.2702C>G (p.Ser901Trp) c.2801C>G (p.Ser934Trp) c.2527+1085C>G (n.2527+1085C>G) | |
2 | g.189004121C>T | CA10587533 | COL3A1 | c.2702C>T (p.Ser901Leu) c.2801C>T (p.Ser934Leu) c.2527+1085C>T (n.2527+1085C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.189004122G>A | CA075594 | COL3A1 | c.2703G>A (p.Ser901=) c.2802G>A (p.Ser934=) c.2527+1086G>A (n.2527+1086G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189004122G>C | CA430312096 | COL3A1 | c.2703G>C (p.Ser901=) c.2802G>C (p.Ser934=) c.2527+1086G>C (n.2527+1086G>C) | |
2 | g.189004122G= | CA1315403069 | COL3A1 | c.2703G= (p.Ser901=) c.2802G= (p.Ser934=) c.2527+1086G= (n.2527+1086G=) | |
2 | g.189004122G>T | CA430312097 | COL3A1 | c.2703G>T (p.Ser901=) c.2802G>T (p.Ser934=) c.2527+1086G>T (n.2527+1086G>T) | gnomAD v4 |
2 | g.189004123C>A | CA075597 | COL3A1 | c.2704C>A (p.Pro902Thr) c.2803C>A (p.Pro935Thr) c.2527+1087C>A (n.2527+1087C>A) | dbSNP ExAC gnomAD v2 |
2 | g.189004123C= | CA1315403070 | COL3A1 | c.2704C= (p.Pro902=) c.2803C= (p.Pro935=) c.2527+1087C= (n.2527+1087C=) | |
2 | g.189004123C>G | CA349844246 | COL3A1 | c.2704C>G (p.Pro902Ala) c.2803C>G (p.Pro935Ala) c.2527+1087C>G (n.2527+1087C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004123C>T | CA349844247 | COL3A1 | c.2704C>T (p.Pro902Ser) c.2803C>T (p.Pro935Ser) c.2527+1087C>T (n.2527+1087C>T) | |
2 | g.189004124C>A | CA349844248 | COL3A1 | c.2705C>A (p.Pro902His) c.2804C>A (p.Pro935His) c.2527+1088C>A (n.2527+1088C>A) | |
2 | g.189004124C= | CA1315403071 | COL3A1 | c.2705C= (p.Pro902=) c.2804C= (p.Pro935=) c.2527+1088C= (n.2527+1088C=) | |
2 | g.189004124C>G | CA349844251 | COL3A1 | c.2705C>G (p.Pro902Arg) c.2804C>G (p.Pro935Arg) c.2527+1088C>G (n.2527+1088C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004124C>T | CA349844252 | COL3A1 | c.2705C>T (p.Pro902Leu) c.2804C>T (p.Pro935Leu) c.2527+1088C>T (n.2527+1088C>T) | |
2 | g.189004125T>A | CA430312100 | COL3A1 | c.2706T>A (p.Pro902=) c.2805T>A (p.Pro935=) c.2527+1089T>A (n.2527+1089T>A) | |
2 | g.189004125T>C | CA005687 | COL3A1 | c.2706T>C (p.Pro902=) c.2805T>C (p.Pro935=) c.2527+1089T>C (n.2527+1089T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004125T>G | CA430312101 | COL3A1 | c.2706T>G (p.Pro902=) c.2805T>G (p.Pro935=) c.2527+1089T>G (n.2527+1089T>G) | |
2 | g.189004125T= | CA1315403072 | COL3A1 | c.2706T= (p.Pro902=) c.2805T= (p.Pro935=) c.2527+1089T= (n.2527+1089T=) | |
2 | g.189004126G>A | CA349844256 | COL3A1 | c.2707G>A (p.Gly903Ser) c.2806G>A (p.Gly936Ser) c.2527+1090G>A (n.2527+1090G>A) | |
2 | g.189004126G>C | CA005694 | COL3A1 | c.2707G>C (p.Gly903Arg) c.2806G>C (p.Gly936Arg) c.2527+1090G>C (n.2527+1090G>C) | ClinVar dbSNP |
2 | g.189004126G= | CA1315403073 | COL3A1 | c.2707G= (p.Gly903=) c.2806G= (p.Gly936=) c.2527+1090G= (n.2527+1090G=) | |
2 | g.189004126G>T | CA349844259 | COL3A1 | c.2707G>T (p.Gly903Cys) c.2806G>T (p.Gly936Cys) c.2527+1090G>T (n.2527+1090G>T) | |
2 | g.189004127G>A | CA349844264 | COL3A1 | c.2708G>A (p.Gly903Asp) c.2807G>A (p.Gly936Asp) c.2527+1091G>A (n.2527+1091G>A) | |
2 | g.189004127G>C | CA349844267 | COL3A1 | c.2708G>C (p.Gly903Ala) c.2807G>C (p.Gly936Ala) c.2527+1091G>C (n.2527+1091G>C) | |
2 | g.189004127G>T | CA349844262 | COL3A1 | c.2708G>T (p.Gly903Val) c.2807G>T (p.Gly936Val) c.2527+1091G>T (n.2527+1091G>T) | |
2 | g.189004128T>A | CA430312107 | COL3A1 | c.2709T>A (p.Gly903=) c.2808T>A (p.Gly936=) c.2527+1092T>A (n.2527+1092T>A) | |
2 | g.189004128T>C | CA430312108 | COL3A1 | c.2709T>C (p.Gly903=) c.2808T>C (p.Gly936=) c.2527+1092T>C (n.2527+1092T>C) | COSMIC |
2 | g.189004128T>G | CA430312109 | COL3A1 | c.2709T>G (p.Gly903=) c.2808T>G (p.Gly936=) c.2527+1092T>G (n.2527+1092T>G) | |
2 | g.189004129G>A | CA349844269 | COL3A1 | c.2710G>A (p.Ala904Thr) c.2809G>A (p.Ala937Thr) c.2527+1093G>A (n.2527+1093G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189004129G>C | CA349844271 | COL3A1 | c.2710G>C (p.Ala904Pro) c.2809G>C (p.Ala937Pro) c.2527+1093G>C (n.2527+1093G>C) | |
2 | g.189004129G= | CA1315403074 | COL3A1 | c.2710G= (p.Ala904=) c.2809G= (p.Ala937=) c.2527+1093G= (n.2527+1093G=) | |
2 | g.189004129G>T | CA349844272 | COL3A1 | c.2710G>T (p.Ala904Ser) c.2809G>T (p.Ala937Ser) c.2527+1093G>T (n.2527+1093G>T) | dbSNP COSMIC |
2 | g.189004130C>A | CA349844275 | COL3A1 | c.2711C>A (p.Ala904Asp) c.2810C>A (p.Ala937Asp) c.2527+1094C>A (n.2527+1094C>A) | COSMIC |
2 | g.189004130C= | CA1315403075 | COL3A1 | c.2711C= (p.Ala904=) c.2810C= (p.Ala937=) c.2527+1094C= (n.2527+1094C=) | |
2 | g.189004130C>G | CA349844277 | COL3A1 | c.2711C>G (p.Ala904Gly) c.2810C>G (p.Ala937Gly) c.2527+1094C>G (n.2527+1094C>G) | dbSNP gnomAD v2 |
2 | g.189004130C>T | CA349844278 | COL3A1 | c.2711C>T (p.Ala904Val) c.2810C>T (p.Ala937Val) c.2527+1094C>T (n.2527+1094C>T) | |
2 | g.189004131C>A | CA430312116 | COL3A1 | c.2712C>A (p.Ala904=) c.2811C>A (p.Ala937=) c.2527+1095C>A (n.2527+1095C>A) | |
2 | g.189004131C>G | CA430312117 | COL3A1 | c.2712C>G (p.Ala904=) c.2811C>G (p.Ala937=) c.2527+1095C>G (n.2527+1095C>G) | |
2 | g.189004131C>T | CA430312118 | COL3A1 | c.2712C>T (p.Ala904=) c.2811C>T (p.Ala937=) c.2527+1095C>T (n.2527+1095C>T) | |
2 | g.189004132C>A | CA349844285 | COL3A1 | c.2713C>A (p.Gln905Lys) c.2812C>A (p.Gln938Lys) c.2527+1096C>A (n.2527+1096C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004132C= | CA1315403076 | COL3A1 | c.2713C= (p.Gln905=) c.2812C= (p.Gln938=) c.2527+1096C= (n.2527+1096C=) | |
2 | g.189004132C>G | CA349844281 | COL3A1 | c.2713C>G (p.Gln905Glu) c.2812C>G (p.Gln938Glu) c.2527+1096C>G (n.2527+1096C>G) | |
2 | g.189004132C>T | CA349844283 | COL3A1 | c.2713C>T (p.Gln905Ter) c.2812C>T (p.Gln938Ter) c.2527+1096C>T (n.2527+1096C>T) | |
2 | g.189004133A>C | CA349844288 | COL3A1 | c.2714A>C (p.Gln905Pro) c.2813A>C (p.Gln938Pro) c.2527+1097A>C (n.2527+1097A>C) | |
2 | g.189004133A>G | CA349844290 | COL3A1 | c.2714A>G (p.Gln905Arg) c.2813A>G (p.Gln938Arg) c.2527+1097A>G (n.2527+1097A>G) | |
2 | g.189004133A>T | CA349844292 | COL3A1 | c.2714A>T (p.Gln905Leu) c.2813A>T (p.Gln938Leu) c.2527+1097A>T (n.2527+1097A>T) | |
2 | g.189004134G>A | CA430312121 | COL3A1 | c.2715G>A (p.Gln905=) c.2814G>A (p.Gln938=) c.2527+1098G>A (n.2527+1098G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004134G>C | CA349844295 | COL3A1 | c.2715G>C (p.Gln905His) c.2814G>C (p.Gln938His) c.2527+1098G>C (n.2527+1098G>C) | |
2 | g.189004134G= | CA1315403077 | COL3A1 | c.2715G= (p.Gln905=) c.2814G= (p.Gln938=) c.2527+1098G= (n.2527+1098G=) | |
2 | g.189004134G>T | CA349844296 | COL3A1 | c.2715G>T (p.Gln905His) c.2814G>T (p.Gln938His) c.2527+1098G>T (n.2527+1098G>T) | |
2 | g.189004135G>A | CA005700 | COL3A1 | c.2716G>A (p.Gly906Ser) c.2815G>A (p.Gly939Ser) c.2527+1099G>A (n.2527+1099G>A) | ClinVar dbSNP COSMIC |
2 | g.189004135G>C | CA349844302 | COL3A1 | c.2716G>C (p.Gly906Arg) c.2815G>C (p.Gly939Arg) c.2527+1099G>C (n.2527+1099G>C) | ClinVar dbSNP |
2 | g.189004135G= | CA1315403078 | COL3A1 | c.2716G= (p.Gly906=) c.2815G= (p.Gly939=) c.2527+1099G= (n.2527+1099G=) | |
2 | g.189004135G>T | CA005707 | COL3A1 | c.2716G>T (p.Gly906Cys) c.2815G>T (p.Gly939Cys) c.2527+1099G>T (n.2527+1099G>T) | ClinVar dbSNP |
2 | g.189004136G>A | CA62557487 | COL3A1 | c.2717G>A (p.Gly906Asp) c.2816G>A (p.Gly939Asp) c.2527+1100G>A (n.2527+1100G>A) | dbSNP COSMIC |
2 | g.189004136G>C | CA349844306 | COL3A1 | c.2717G>C (p.Gly906Ala) c.2816G>C (p.Gly939Ala) c.2527+1100G>C (n.2527+1100G>C) | |
2 | g.189004136G= | CA1315403079 | COL3A1 | c.2717G= (p.Gly906=) c.2816G= (p.Gly939=) c.2527+1100G= (n.2527+1100G=) | |
2 | g.189004136G>T | CA349844308 | COL3A1 | c.2717G>T (p.Gly906Val) c.2816G>T (p.Gly939Val) c.2527+1100G>T (n.2527+1100G>T) | |
2 | g.189004137C>A | CA430312128 | COL3A1 | c.2718C>A (p.Gly906=) c.2817C>A (p.Gly939=) c.2527+1101C>A (n.2527+1101C>A) | dbSNP gnomAD v2 |
2 | g.189004137C= | CA1315403080 | COL3A1 | c.2718C= (p.Gly906=) c.2817C= (p.Gly939=) c.2527+1101C= (n.2527+1101C=) | |
2 | g.189004137C>G | CA430312126 | COL3A1 | c.2718C>G (p.Gly906=) c.2817C>G (p.Gly939=) c.2527+1101C>G (n.2527+1101C>G) | |
2 | g.189004137C>T | CA430312127 | COL3A1 | c.2718C>T (p.Gly906=) c.2817C>T (p.Gly939=) c.2527+1101C>T (n.2527+1101C>T) | gnomAD v4 |
2 | g.189004138C>A | CA349844311 | COL3A1 | c.2719C>A (p.Pro907Thr) c.2818C>A (p.Pro940Thr) c.2527+1102C>A (n.2527+1102C>A) | gnomAD v4 |
2 | g.189004138C>G | CA349844313 | COL3A1 | c.2719C>G (p.Pro907Ala) c.2818C>G (p.Pro940Ala) c.2527+1102C>G (n.2527+1102C>G) | |
2 | g.189004138C>T | CA349844316 | COL3A1 | c.2719C>T (p.Pro907Ser) c.2818C>T (p.Pro940Ser) c.2527+1102C>T (n.2527+1102C>T) | |
2 | g.189004139C>A | CA349844319 | COL3A1 | c.2720C>A (p.Pro907Gln) c.2819C>A (p.Pro940Gln) c.2527+1103C>A (n.2527+1103C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004139C= | CA1315403081 | COL3A1 | c.2720C= (p.Pro907=) c.2819C= (p.Pro940=) c.2527+1103C= (n.2527+1103C=) | |
2 | g.189004139C>G | CA349844320 | COL3A1 | c.2720C>G (p.Pro907Arg) c.2819C>G (p.Pro940Arg) c.2527+1103C>G (n.2527+1103C>G) | |
2 | g.189004139C>T | CA349844322 | COL3A1 | c.2720C>T (p.Pro907Leu) c.2819C>T (p.Pro940Leu) c.2527+1103C>T (n.2527+1103C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004140A>C | CA430312130 | COL3A1 | c.2721A>C (p.Pro907=) c.2820A>C (p.Pro940=) c.2527+1104A>C (n.2527+1104A>C) | |
2 | g.189004140A>G | CA430312133 | COL3A1 | c.2721A>G (p.Pro907=) c.2820A>G (p.Pro940=) c.2527+1104A>G (n.2527+1104A>G) | |
2 | g.189004140A>T | CA430312135 | COL3A1 | c.2721A>T (p.Pro907=) c.2820A>T (p.Pro940=) c.2527+1104A>T (n.2527+1104A>T) | |
2 | g.189004141C>A | CA349844325 | COL3A1 | c.2722C>A (p.Pro908Thr) c.2821C>A (p.Pro941Thr) c.2527+1105C>A (n.2527+1105C>A) | COSMIC |
2 | g.189004141C>G | CA349844326 | COL3A1 | c.2722C>G (p.Pro908Ala) c.2821C>G (p.Pro941Ala) c.2527+1105C>G (n.2527+1105C>G) | |
2 | g.189004141C>T | CA349844329 | COL3A1 | c.2722C>T (p.Pro908Ser) c.2821C>T (p.Pro941Ser) c.2527+1105C>T (n.2527+1105C>T) | |
2 | g.189004142C>A | CA349844335 | COL3A1 | c.2723C>A (p.Pro908Gln) c.2822C>A (p.Pro941Gln) c.2527+1106C>A (n.2527+1106C>A) | |
2 | g.189004142C= | CA1315403082 | COL3A1 | c.2723C= (p.Pro908=) c.2822C= (p.Pro941=) c.2527+1106C= (n.2527+1106C=) | |
2 | g.189004142C>G | CA349844333 | COL3A1 | c.2723C>G (p.Pro908Arg) c.2822C>G (p.Pro941Arg) c.2527+1106C>G (n.2527+1106C>G) | |
2 | g.189004142C>T | CA075607 | COL3A1 | c.2723C>T (p.Pro908Leu) c.2822C>T (p.Pro941Leu) c.2527+1106C>T (n.2527+1106C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189004143A>C | CA430312143 | COL3A1 | c.2724A>C (p.Pro908=) c.2823A>C (p.Pro941=) c.2527+1107A>C (n.2527+1107A>C) | |
2 | g.189004143A>G | CA430312142 | COL3A1 | c.2724A>G (p.Pro908=) c.2823A>G (p.Pro941=) c.2527+1107A>G (n.2527+1107A>G) | |
2 | g.189004143A>T | CA430312144 | COL3A1 | c.2724A>T (p.Pro908=) c.2823A>T (p.Pro941=) c.2527+1107A>T (n.2527+1107A>T) | |
2 | g.189004148_189004151del | CA2662310065 | COL3A1 | c.2724+5_2724+8del c.2823+5_2823+8del c.2527+1112_2527+1115del (n.2527+1112_2527+1115del) | ClinVar gnomAD v4 |
2 | g.189004144G>A | CA005713 | COL3A1 | c.2724+1G>A (n.2724+1G>A) c.2823+1G>A (n.2823+1G>A) c.2527+1108G>A (n.2527+1108G>A) | ClinVar dbSNP |
2 | g.189004144G>C | CA349844342 | COL3A1 | c.2724+1G>C (n.2724+1G>C) c.2823+1G>C (n.2823+1G>C) c.2527+1108G>C (n.2527+1108G>C) | |
2 | g.189004144G= | CA1315403083 | COL3A1 | c.2724+1G= (n.2724+1G=) c.2823+1G= (n.2823+1G=) c.2527+1108G= (n.2527+1108G=) | |
2 | g.189004144G>T | CA349844340 | COL3A1 | c.2724+1G>T (n.2724+1G>T) c.2823+1G>T (n.2823+1G>T) c.2527+1108G>T (n.2527+1108G>T) | ClinVar dbSNP |
2 | g.189004145_189004257del | CA2753571887 | COL3A1 | c.2724+2_2725del c.2823+2_2824del c.2527+1109_2527+1221del (n.2527+1109_2527+1221del) | |
2 | g.189004145T>A | CA349844344 | COL3A1 | c.2724+2T>A (n.2724+2T>A) c.2823+2T>A (n.2823+2T>A) c.2527+1109T>A (n.2527+1109T>A) | |
2 | g.189004145T>C | CA349844349 | COL3A1 | c.2724+2T>C (n.2724+2T>C) c.2823+2T>C (n.2823+2T>C) c.2527+1109T>C (n.2527+1109T>C) | |
2 | g.189004145T>G | CA349844347 | COL3A1 | c.2724+2T>G (n.2724+2T>G) c.2823+2T>G (n.2823+2T>G) c.2527+1109T>G (n.2527+1109T>G) | |
2 | g.189004146A>T | CA2662310066 | COL3A1 | c.2724+3A>T (n.2724+3A>T) c.2823+3A>T (n.2823+3A>T) c.2527+1110A>T (n.2527+1110A>T) | gnomAD v4 |
2 | g.189004148G>A | CA1139657567 | COL3A1 | c.2724+5G>A (n.2724+5G>A) c.2823+5G>A (n.2823+5G>A) c.2527+1112G>A (n.2527+1112G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189004148G>C | CA913187997 | COL3A1 | c.2724+5G>C (n.2724+5G>C) c.2823+5G>C (n.2823+5G>C) c.2527+1112G>C (n.2527+1112G>C) | ClinVar dbSNP |
2 | g.189004148G= | CA1315403084 | COL3A1 | c.2724+5G= (n.2724+5G=) c.2823+5G= (n.2823+5G=) c.2527+1112G= (n.2527+1112G=) | |
2 | g.189004151A= | CA1315403085 | COL3A1 | c.2724+8A= (n.2724+8A=) c.2823+8A= (n.2823+8A=) c.2527+1115A= (n.2527+1115A=) | |
2 | g.189004151A>G | CA1315403086 | COL3A1 | c.2724+8A>G (n.2724+8A>G) c.2823+8A>G (n.2823+8A>G) c.2527+1115A>G (n.2527+1115A>G) | dbSNP |
2 | g.189004152C= | CA1315403087 | COL3A1 | c.2724+9C= (n.2724+9C=) c.2823+9C= (n.2823+9C=) c.2527+1116C= (n.2527+1116C=) | |
2 | g.189004152C>T | CA762204398 | COL3A1 | c.2724+9C>T (n.2724+9C>T) c.2823+9C>T (n.2823+9C>T) c.2527+1116C>T (n.2527+1116C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004153T>A | CA075609 | COL3A1 | c.2724+10T>A (n.2724+10T>A) c.2823+10T>A (n.2823+10T>A) c.2527+1117T>A (n.2527+1117T>A) | dbSNP ExAC gnomAD v2 |
2 | g.189004153T>C | CA538476930 | COL3A1 | c.2724+10T>C (n.2724+10T>C) c.2823+10T>C (n.2823+10T>C) c.2527+1117T>C (n.2527+1117T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004153T= | CA1315403088 | COL3A1 | c.2724+10T= (n.2724+10T=) c.2823+10T= (n.2823+10T=) c.2527+1117T= (n.2527+1117T=) | |
2 | g.189004156A= | CA1315403089 | COL3A1 | c.2724+13A= (n.2724+13A=) c.2823+13A= (n.2823+13A=) c.2527+1120A= (n.2527+1120A=) | |
2 | g.189004156A>C | CA538476935 | COL3A1 | c.2724+13A>C (n.2724+13A>C) c.2823+13A>C (n.2823+13A>C) c.2527+1120A>C (n.2527+1120A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004156A>G | CA2662310067 | COL3A1 | c.2724+13A>G (n.2724+13A>G) c.2823+13A>G (n.2823+13A>G) c.2527+1120A>G (n.2527+1120A>G) | gnomAD v4 |
2 | g.189004156A>T | CA2662310068 | COL3A1 | c.2724+13A>T (n.2724+13A>T) c.2823+13A>T (n.2823+13A>T) c.2527+1120A>T (n.2527+1120A>T) | gnomAD v4 |
2 | g.189004157T>C | CA075612 | COL3A1 | c.2724+14T>C (n.2724+14T>C) c.2823+14T>C (n.2823+14T>C) c.2527+1121T>C (n.2527+1121T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004157T= | CA1315403091 | COL3A1 | c.2724+14T= (n.2724+14T=) c.2823+14T= (n.2823+14T=) c.2527+1121T= (n.2527+1121T=) | |
2 | g.189004163dup | CA658796121 | COL3A1 | c.2724+20dup (n.2724+20dup) c.2823+20dup (n.2823+20dup) c.2527+1127dup (n.2527+1127dup) | ClinVar dbSNP gnomAD v4 |
2 | g.189004162_189004163dup | CA1315403090 | COL3A1 | c.2724+19_2724+20dup (n.2724+19_2724+20dup) c.2823+19_2823+20dup (n.2823+19_2823+20dup) c.2527+1126_2527+1127dup (n.2527+1126_2527+1127dup) | dbSNP |
2 | g.189004163del | CA2577185818 | COL3A1 | c.2724+20del (n.2724+20del) c.2823+20del (n.2823+20del) c.2527+1127del (n.2527+1127del) | |
2 | g.189004160T>G | CA1315403093 | COL3A1 | c.2724+17T>G (n.2724+17T>G) c.2823+17T>G (n.2823+17T>G) c.2527+1124T>G (n.2527+1124T>G) | dbSNP |
2 | g.189004160T= | CA1315403092 | COL3A1 | c.2724+17T= (n.2724+17T=) c.2823+17T= (n.2823+17T=) c.2527+1124T= (n.2527+1124T=) | |
2 | g.189004161T>C | CA2662310069 | COL3A1 | c.2724+18T>C (n.2724+18T>C) c.2823+18T>C (n.2823+18T>C) c.2527+1125T>C (n.2527+1125T>C) | gnomAD v4 |
2 | g.189004162T>C | CA2662310070 | COL3A1 | c.2724+19T>C (n.2724+19T>C) c.2823+19T>C (n.2823+19T>C) c.2527+1126T>C (n.2527+1126T>C) | gnomAD v4 |
2 | g.189004163T>A | CA075616 | COL3A1 | c.2724+20T>A (n.2724+20T>A) c.2823+20T>A (n.2823+20T>A) c.2527+1127T>A (n.2527+1127T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004163T= | CA1315403094 | COL3A1 | c.2724+20T= (n.2724+20T=) c.2823+20T= (n.2823+20T=) c.2527+1127T= (n.2527+1127T=) | |
2 | g.189004164A= | CA1315403095 | COL3A1 | c.2724+21A= (n.2724+21A=) c.2823+21A= (n.2823+21A=) c.2527+1128A= (n.2527+1128A=) | |
2 | g.189004164A>T | CA538448886 | COL3A1 | c.2724+21A>T (n.2724+21A>T) c.2823+21A>T (n.2823+21A>T) c.2527+1128A>T (n.2527+1128A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004170A= | CA1315403096 | COL3A1 | c.2724+27A= (n.2724+27A=) c.2823+27A= (n.2823+27A=) c.2527+1134A= (n.2527+1134A=) | |
2 | g.189004170A>C | CA2662310071 | COL3A1 | c.2724+27A>C (n.2724+27A>C) c.2823+27A>C (n.2823+27A>C) c.2527+1134A>C (n.2527+1134A>C) | gnomAD v4 |
2 | g.189004170A>G | CA62557489 | COL3A1 | c.2724+27A>G (n.2724+27A>G) c.2823+27A>G (n.2823+27A>G) c.2527+1134A>G (n.2527+1134A>G) | dbSNP |
2 | g.189004171T>C | CA1315403098 | COL3A1 | c.2724+28T>C (n.2724+28T>C) c.2823+28T>C (n.2823+28T>C) c.2527+1135T>C (n.2527+1135T>C) | dbSNP |
2 | g.189004171T= | CA1315403097 | COL3A1 | c.2724+28T= (n.2724+28T=) c.2823+28T= (n.2823+28T=) c.2527+1135T= (n.2527+1135T=) | |
2 | g.189004172dup | CA2740351976 | COL3A1 | c.2724+29dup (n.2724+29dup) c.2823+29dup (n.2823+29dup) c.2527+1136dup (n.2527+1136dup) | |
2 | g.189004172T>C | CA2662310072 | COL3A1 | c.2724+29T>C (n.2724+29T>C) c.2823+29T>C (n.2823+29T>C) c.2527+1136T>C (n.2527+1136T>C) | gnomAD v4 |