| 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.189004145_189004257del | CA2753571887 | COL3A1 | c.2724+2_2725del c.2823+2_2824del c.2527+1109_2527+1221del (n.2527+1109_2527+1221del) | |
| 2 | g.189004247T>A | CA2573051819 | COL3A1 | c.2725-10T>A (n.2725-10T>A) c.2824-10T>A (n.2824-10T>A) c.2527+1211T>A (n.2527+1211T>A) | ClinVar dbSNP |
| 2 | g.189004247T>G | CA2753571893 | COL3A1 | c.2725-10T>G (n.2725-10T>G) c.2824-10T>G (n.2824-10T>G) c.2527+1211T>G (n.2527+1211T>G) | |
| 2 | g.189004248C= | CA1315403139 | COL3A1 | c.2725-9C= (n.2725-9C=) c.2824-9C= (n.2824-9C=) c.2527+1212C= (n.2527+1212C=) | |
| 2 | g.189004248C>T | CA658821162 | COL3A1 | c.2725-9C>T (n.2725-9C>T) c.2824-9C>T (n.2824-9C>T) c.2527+1212C>T (n.2527+1212C>T) | ClinVar dbSNP |
| 2 | g.189004249T>C | CA762204491 | COL3A1 | c.2725-8T>C (n.2725-8T>C) c.2824-8T>C (n.2824-8T>C) c.2527+1213T>C (n.2527+1213T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004249T= | CA1315403140 | COL3A1 | c.2725-8T= (n.2725-8T=) c.2824-8T= (n.2824-8T=) c.2527+1213T= (n.2527+1213T=) | |
| 2 | g.189004250G>A | CA913187998 | COL3A1 | c.2725-7G>A (n.2725-7G>A) c.2824-7G>A (n.2824-7G>A) c.2527+1214G>A (n.2527+1214G>A) | ClinVar dbSNP |
| 2 | g.189004250G= | CA1315403141 | COL3A1 | c.2725-7G= (n.2725-7G=) c.2824-7G= (n.2824-7G=) c.2527+1214G= (n.2527+1214G=) | |
| 2 | g.189004251T>C | CA62557522 | COL3A1 | c.2725-6T>C (n.2725-6T>C) c.2824-6T>C (n.2824-6T>C) c.2527+1215T>C (n.2527+1215T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004251T= | CA1315403142 | COL3A1 | c.2725-6T= (n.2725-6T=) c.2824-6T= (n.2824-6T=) c.2527+1215T= (n.2527+1215T=) | |
| 2 | g.189004251_189004252insC | CA538448895 | COL3A1 | c.2725-6_2725-5insC (n.2725-6_2725-5insC) c.2824-6_2824-5insC (n.2824-6_2824-5insC) c.2527+1215_2527+1216insC (n.2527+1215_2527+1216insC) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004252A= | CA1315403143 | COL3A1 | c.2725-5A= (n.2725-5A=) c.2824-5A= (n.2824-5A=) c.2527+1216A= (n.2527+1216A=) | |
| 2 | g.189004252A>G | CA658796122 | COL3A1 | c.2725-5A>G (n.2725-5A>G) c.2824-5A>G (n.2824-5A>G) c.2527+1216A>G (n.2527+1216A>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004252A>T | CA62557523 | COL3A1 | c.2725-5A>T (n.2725-5A>T) c.2824-5A>T (n.2824-5A>T) c.2527+1216A>T (n.2527+1216A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004253T>C | CA1315403145 | COL3A1 | c.2725-4T>C (n.2725-4T>C) c.2824-4T>C (n.2824-4T>C) c.2527+1217T>C (n.2527+1217T>C) | dbSNP gnomAD v4 |
| 2 | g.189004253T= | CA1315403144 | COL3A1 | c.2725-4T= (n.2725-4T=) c.2824-4T= (n.2824-4T=) c.2527+1217T= (n.2527+1217T=) | |
| 2 | g.189004254T>C | CA1315403147 | COL3A1 | c.2725-3T>C (n.2725-3T>C) c.2824-3T>C (n.2824-3T>C) c.2527+1218T>C (n.2527+1218T>C) | ClinVar dbSNP |
| 2 | g.189004254T= | CA1315403146 | COL3A1 | c.2725-3T= (n.2725-3T=) c.2824-3T= (n.2824-3T=) c.2527+1218T= (n.2527+1218T=) | |
| 2 | g.189004255A>C | CA349844376 | COL3A1 | c.2725-2A>C (n.2725-2A>C) c.2824-2A>C (n.2824-2A>C) c.2527+1219A>C (n.2527+1219A>C) | COSMIC |
| 2 | g.189004255A>G | CA349844377 | COL3A1 | c.2725-2A>G (n.2725-2A>G) c.2824-2A>G (n.2824-2A>G) c.2527+1219A>G (n.2527+1219A>G) | gnomAD v4 |
| 2 | g.189004255A>T | CA349844379 | COL3A1 | c.2725-2A>T (n.2725-2A>T) c.2824-2A>T (n.2824-2A>T) c.2527+1219A>T (n.2527+1219A>T) | |
| 2 | g.189004256G>A | CA005719 | COL3A1 | c.2725-1G>A (n.2725-1G>A) c.2824-1G>A (n.2824-1G>A) c.2527+1220G>A (n.2527+1220G>A) | ClinVar dbSNP |
| 2 | g.189004256G>C | CA349844383 | COL3A1 | c.2725-1G>C (n.2725-1G>C) c.2824-1G>C (n.2824-1G>C) c.2527+1220G>C (n.2527+1220G>C) | |
| 2 | g.189004256G= | CA1315403148 | COL3A1 | c.2725-1G= (n.2725-1G=) c.2824-1G= (n.2824-1G=) c.2527+1220G= (n.2527+1220G=) | |
| 2 | g.189004256G>T | CA349844385 | COL3A1 | c.2725-1G>T (n.2725-1G>T) c.2824-1G>T (n.2824-1G>T) c.2527+1220G>T (n.2527+1220G>T) | gnomAD v4 |
| 2 | g.189004257G>A | CA005726 | COL3A1 | c.2725G>A (p.Gly909Arg) c.2824G>A (p.Gly942Arg) c.2527+1221G>A (n.2527+1221G>A) | ClinVar dbSNP |
| 2 | g.189004257G>C | CA349844389 | COL3A1 | c.2725G>C (p.Gly909Arg) c.2824G>C (p.Gly942Arg) c.2527+1221G>C (n.2527+1221G>C) | |
| 2 | g.189004257G= | CA1315403149 | COL3A1 | c.2725G= (p.Gly909=) c.2824G= (p.Gly942=) c.2527+1221G= (n.2527+1221G=) | |
| 2 | g.189004257G>T | CA349844391 | COL3A1 | c.2725G>T (p.Gly909Ter) c.2824G>T (p.Gly942Ter) c.2527+1221G>T (n.2527+1221G>T) | |
| 2 | g.189004258G>A | CA005734 | COL3A1 | c.2726G>A (p.Gly909Glu) c.2825G>A (p.Gly942Glu) c.2527+1222G>A (n.2527+1222G>A) | ClinVar dbSNP COSMIC |
| 2 | g.189004258G>C | CA349844396 | COL3A1 | c.2726G>C (p.Gly909Ala) c.2825G>C (p.Gly942Ala) c.2527+1222G>C (n.2527+1222G>C) | |
| 2 | g.189004258G= | CA1315403150 | COL3A1 | c.2726G= (p.Gly909=) c.2825G= (p.Gly942=) c.2527+1222G= (n.2527+1222G=) | |
| 2 | g.189004258G>T | CA349844395 | COL3A1 | c.2726G>T (p.Gly909Val) c.2825G>T (p.Gly942Val) c.2527+1222G>T (n.2527+1222G>T) | |
| 2 | g.189004259A>C | CA430312181 | COL3A1 | c.2727A>C (p.Gly909=) c.2826A>C (p.Gly942=) c.2527+1223A>C (n.2527+1223A>C) | |
| 2 | g.189004259A>G | CA430312182 | COL3A1 | c.2727A>G (p.Gly909=) c.2826A>G (p.Gly942=) c.2527+1223A>G (n.2527+1223A>G) | |
| 2 | g.189004259A>T | CA430312183 | COL3A1 | c.2727A>T (p.Gly909=) c.2826A>T (p.Gly942=) c.2527+1223A>T (n.2527+1223A>T) | |
| 2 | g.189004260G>A | CA349844398 | COL3A1 | c.2728G>A (p.Ala910Thr) c.2827G>A (p.Ala943Thr) c.2527+1224G>A (n.2527+1224G>A) | |
| 2 | g.189004260G>C | CA349844399 | COL3A1 | c.2728G>C (p.Ala910Pro) c.2827G>C (p.Ala943Pro) c.2527+1224G>C (n.2527+1224G>C) | gnomAD v4 |
| 2 | g.189004260G>T | CA349844402 | COL3A1 | c.2728G>T (p.Ala910Ser) c.2827G>T (p.Ala943Ser) c.2527+1224G>T (n.2527+1224G>T) | gnomAD v4 |
| 2 | g.189004260_189004261delinsGC | CA1315403151 | COL3A1 | c.2728_2729delinsGC (p.Ala910=) c.2827_2828delinsGC (p.Ala943=) c.2527+1224_2527+1225delinsGC (n.2527+1224_2527+1225delinsGC) | |
| 2 | g.189004261del | CA658796123 | COL3A1 | c.2729del (p.Ala910ValfsTer?) c.2828del (p.Ala943ValfsTer?) c.2527+1225del (n.2527+1225del) | ClinVar dbSNP |
| 2 | g.189004261C>A | CA349844404 | COL3A1 | c.2729C>A (p.Ala910Asp) c.2828C>A (p.Ala943Asp) c.2527+1225C>A (n.2527+1225C>A) | gnomAD v4 |
| 2 | g.189004261C>G | CA349844406 | COL3A1 | c.2729C>G (p.Ala910Gly) c.2828C>G (p.Ala943Gly) c.2527+1225C>G (n.2527+1225C>G) | |
| 2 | g.189004261C>T | CA349844408 | COL3A1 | c.2729C>T (p.Ala910Val) c.2828C>T (p.Ala943Val) c.2527+1225C>T (n.2527+1225C>T) | |
| 2 | g.189004262T>A | CA430312186 | COL3A1 | c.2730T>A (p.Ala910=) c.2829T>A (p.Ala943=) c.2527+1226T>A (n.2527+1226T>A) | |
| 2 | g.189004262T>C | CA430312184 | COL3A1 | c.2730T>C (p.Ala910=) c.2829T>C (p.Ala943=) c.2527+1226T>C (n.2527+1226T>C) | |
| 2 | g.189004262T>G | CA430312185 | COL3A1 | c.2730T>G (p.Ala910=) c.2829T>G (p.Ala943=) c.2527+1226T>G (n.2527+1226T>G) | |
| 2 | g.189004263C>A | CA349844411 | COL3A1 | c.2731C>A (p.Pro911Thr) c.2830C>A (p.Pro944Thr) c.2527+1227C>A (n.2527+1227C>A) | gnomAD v4 |
| 2 | g.189004263C>G | CA349844412 | COL3A1 | c.2731C>G (p.Pro911Ala) c.2830C>G (p.Pro944Ala) c.2527+1227C>G (n.2527+1227C>G) | |
| 2 | g.189004263C>T | CA349844415 | COL3A1 | c.2731C>T (p.Pro911Ser) c.2830C>T (p.Pro944Ser) c.2527+1227C>T (n.2527+1227C>T) | |
| 2 | g.189004263_189004264delinsTT | CA645514671 | COL3A1 | c.2731_2732delinsTT (p.Pro911Leu) c.2830_2831delinsTT (p.Pro944Leu) c.2527+1227_2527+1228delinsTT (n.2527+1227_2527+1228delinsTT) | COSMIC |
| 2 | g.189004264C>A | CA349844417 | COL3A1 | c.2732C>A (p.Pro911Gln) c.2831C>A (p.Pro944Gln) c.2527+1228C>A (n.2527+1228C>A) | |
| 2 | g.189004264C>G | CA349844420 | COL3A1 | c.2732C>G (p.Pro911Arg) c.2831C>G (p.Pro944Arg) c.2527+1228C>G (n.2527+1228C>G) | |
| 2 | g.189004264C>T | CA349844422 | COL3A1 | c.2732C>T (p.Pro911Leu) c.2831C>T (p.Pro944Leu) c.2527+1228C>T (n.2527+1228C>T) | |
| 2 | g.189004265A>C | CA430312188 | COL3A1 | c.2733A>C (p.Pro911=) c.2832A>C (p.Pro944=) c.2527+1229A>C (n.2527+1229A>C) | |
| 2 | g.189004265A>G | CA430312189 | COL3A1 | c.2733A>G (p.Pro911=) c.2832A>G (p.Pro944=) c.2527+1229A>G (n.2527+1229A>G) | ClinVar gnomAD v4 |
| 2 | g.189004265A>T | CA430312190 | COL3A1 | c.2733A>T (p.Pro911=) c.2832A>T (p.Pro944=) c.2527+1229A>T (n.2527+1229A>T) | |
| 2 | g.189004266G>A | CA005741 | COL3A1 | c.2734G>A (p.Gly912Ser) c.2833G>A (p.Gly945Ser) c.2527+1230G>A (n.2527+1230G>A) | ClinVar dbSNP |
| 2 | g.189004266G>C | CA349844426 | COL3A1 | c.2734G>C (p.Gly912Arg) c.2833G>C (p.Gly945Arg) c.2527+1230G>C (n.2527+1230G>C) | |
| 2 | g.189004266G= | CA1315403152 | COL3A1 | c.2734G= (p.Gly912=) c.2833G= (p.Gly945=) c.2527+1230G= (n.2527+1230G=) | |
| 2 | g.189004266G>T | CA349844424 | COL3A1 | c.2734G>T (p.Gly912Cys) c.2833G>T (p.Gly945Cys) c.2527+1230G>T (n.2527+1230G>T) | gnomAD v4 |
| 2 | g.189004267G>A | CA349844429 | COL3A1 | c.2735G>A (p.Gly912Asp) c.2834G>A (p.Gly945Asp) c.2527+1231G>A (n.2527+1231G>A) | |
| 2 | g.189004267G>C | CA349844431 | COL3A1 | c.2735G>C (p.Gly912Ala) c.2834G>C (p.Gly945Ala) c.2527+1231G>C (n.2527+1231G>C) | |
| 2 | g.189004267G>T | CA349844433 | COL3A1 | c.2735G>T (p.Gly912Val) c.2834G>T (p.Gly945Val) c.2527+1231G>T (n.2527+1231G>T) | |
| 2 | g.189004268C>A | CA430312191 | COL3A1 | c.2736C>A (p.Gly912=) c.2835C>A (p.Gly945=) c.2527+1232C>A (n.2527+1232C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004268C= | CA1315403153 | COL3A1 | c.2736C= (p.Gly912=) c.2835C= (p.Gly945=) c.2527+1232C= (n.2527+1232C=) | |
| 2 | g.189004268C>G | CA430312192 | COL3A1 | c.2736C>G (p.Gly912=) c.2835C>G (p.Gly945=) c.2527+1232C>G (n.2527+1232C>G) | |
| 2 | g.189004268C>T | CA430312193 | COL3A1 | c.2736C>T (p.Gly912=) c.2835C>T (p.Gly945=) c.2527+1232C>T (n.2527+1232C>T) | ClinVar |
| 2 | g.189004269C>A | CA349844436 | COL3A1 | c.2737C>A (p.Pro913Thr) c.2836C>A (p.Pro946Thr) c.2527+1233C>A (n.2527+1233C>A) | gnomAD v4 |
| 2 | g.189004269C= | CA1315403154 | COL3A1 | c.2737C= (p.Pro913=) c.2836C= (p.Pro946=) c.2527+1233C= (n.2527+1233C=) | |
| 2 | g.189004269C>G | CA349844439 | COL3A1 | c.2737C>G (p.Pro913Ala) c.2836C>G (p.Pro946Ala) c.2527+1233C>G (n.2527+1233C>G) | |
| 2 | g.189004269C>T | CA349844441 | COL3A1 | c.2737C>T (p.Pro913Ser) c.2836C>T (p.Pro946Ser) c.2527+1233C>T (n.2527+1233C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004270C>A | CA349844444 | COL3A1 | c.2738C>A (p.Pro913Gln) c.2837C>A (p.Pro946Gln) c.2527+1234C>A (n.2527+1234C>A) | gnomAD v4 |
| 2 | g.189004270C= | CA1315403155 | COL3A1 | c.2738C= (p.Pro913=) c.2837C= (p.Pro946=) c.2527+1234C= (n.2527+1234C=) | |
| 2 | g.189004270C>G | CA349844446 | COL3A1 | c.2738C>G (p.Pro913Arg) c.2837C>G (p.Pro946Arg) c.2527+1234C>G (n.2527+1234C>G) | gnomAD v4 |
| 2 | g.189004270C>T | CA349844447 | COL3A1 | c.2738C>T (p.Pro913Leu) c.2837C>T (p.Pro946Leu) c.2527+1234C>T (n.2527+1234C>T) | dbSNP |
| 2 | g.189004271_189004272del | CA2662310095 | COL3A1 | c.2739_2740del (p.Leu914TrpfsTer21) c.2838_2839del (p.Leu947TrpfsTer21) c.2527+1235_2527+1236del (n.2527+1235_2527+1236del) | gnomAD v4 |
| 2 | g.189004271A= | CA1315403156 | COL3A1 | c.2739A= (p.Pro913=) c.2838A= (p.Pro946=) c.2527+1235A= (n.2527+1235A=) | |
| 2 | g.189004271A>C | CA430312194 | COL3A1 | c.2739A>C (p.Pro913=) c.2838A>C (p.Pro946=) c.2527+1235A>C (n.2527+1235A>C) | |
| 2 | g.189004271A>G | CA430312195 | COL3A1 | c.2739A>G (p.Pro913=) c.2838A>G (p.Pro946=) c.2527+1235A>G (n.2527+1235A>G) | |
| 2 | g.189004271A>T | CA430312196 | COL3A1 | c.2739A>T (p.Pro913=) c.2838A>T (p.Pro946=) c.2527+1235A>T (n.2527+1235A>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004272C>A | CA349844449 | COL3A1 | c.2740C>A (p.Leu914Ile) c.2839C>A (p.Leu947Ile) c.2527+1236C>A (n.2527+1236C>A) | |
| 2 | g.189004272C= | CA1315403157 | COL3A1 | c.2740C= (p.Leu914=) c.2839C= (p.Leu947=) c.2527+1236C= (n.2527+1236C=) | |
| 2 | g.189004272C>G | CA349844451 | COL3A1 | c.2740C>G (p.Leu914Val) c.2839C>G (p.Leu947Val) c.2527+1236C>G (n.2527+1236C>G) | |
| 2 | g.189004272C>T | CA16610554 | COL3A1 | c.2740C>T (p.Leu914Phe) c.2839C>T (p.Leu947Phe) c.2527+1236C>T (n.2527+1236C>T) | ClinVar dbSNP |
| 2 | g.189004273T>A | CA349844454 | COL3A1 | c.2741T>A (p.Leu914His) c.2840T>A (p.Leu947His) c.2527+1237T>A (n.2527+1237T>A) | gnomAD v4 |
| 2 | g.189004273T>C | CA349844458 | COL3A1 | c.2741T>C (p.Leu914Pro) c.2840T>C (p.Leu947Pro) c.2527+1237T>C (n.2527+1237T>C) | |
| 2 | g.189004273T>G | CA349844457 | COL3A1 | c.2741T>G (p.Leu914Arg) c.2840T>G (p.Leu947Arg) c.2527+1237T>G (n.2527+1237T>G) | |
| 2 | g.189004274del | CA2662310096 | COL3A1 | c.2742del (p.Ile916LeufsTer?) c.2841del (p.Ile949LeufsTer?) c.2527+1238del (n.2527+1238del) | gnomAD v4 |
| 2 | g.189004274T>A | CA430312197 | COL3A1 | c.2742T>A (p.Leu914=) c.2841T>A (p.Leu947=) c.2527+1238T>A (n.2527+1238T>A) | |
| 2 | g.189004274T>C | CA430312198 | COL3A1 | c.2742T>C (p.Leu914=) c.2841T>C (p.Leu947=) c.2527+1238T>C (n.2527+1238T>C) | ClinVar dbSNP |
| 2 | g.189004274T>G | CA430312199 | COL3A1 | c.2742T>G (p.Leu914=) c.2841T>G (p.Leu947=) c.2527+1238T>G (n.2527+1238T>G) | |
| 2 | g.189004274T= | CA1315403158 | COL3A1 | c.2742T= (p.Leu914=) c.2841T= (p.Leu947=) c.2527+1238T= (n.2527+1238T=) | |
| 2 | g.189004275G>A | CA005748 | COL3A1 | c.2743G>A (p.Gly915Arg) c.2842G>A (p.Gly948Arg) c.2527+1239G>A (n.2527+1239G>A) | ClinVar dbSNP |
| 2 | g.189004275G>C | CA349844464 | COL3A1 | c.2743G>C (p.Gly915Arg) c.2842G>C (p.Gly948Arg) c.2527+1239G>C (n.2527+1239G>C) | |
| 2 | g.189004275G= | CA1315403159 | COL3A1 | c.2743G= (p.Gly915=) c.2842G= (p.Gly948=) c.2527+1239G= (n.2527+1239G=) | |
| 2 | g.189004275G>T | CA349844462 | COL3A1 | c.2743G>T (p.Gly915Trp) c.2842G>T (p.Gly948Trp) c.2527+1239G>T (n.2527+1239G>T) | gnomAD v4 |
| 2 | g.189004276G>A | CA10581907 | COL3A1 | c.2744G>A (p.Gly915Glu) c.2843G>A (p.Gly948Glu) c.2527+1240G>A (n.2527+1240G>A) | ClinVar dbSNP |
| 2 | g.189004276G>C | CA349844468 | COL3A1 | c.2744G>C (p.Gly915Ala) c.2843G>C (p.Gly948Ala) c.2527+1240G>C (n.2527+1240G>C) | |
| 2 | g.189004276G= | CA1315403160 | COL3A1 | c.2744G= (p.Gly915=) c.2843G= (p.Gly948=) c.2527+1240G= (n.2527+1240G=) | |
| 2 | g.189004276G>T | CA349844470 | COL3A1 | c.2744G>T (p.Gly915Val) c.2843G>T (p.Gly948Val) c.2527+1240G>T (n.2527+1240G>T) | gnomAD v4 COSMIC |
| 2 | g.189004277G>A | CA430312200 | COL3A1 | c.2745G>A (p.Gly915=) c.2844G>A (p.Gly948=) c.2527+1241G>A (n.2527+1241G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.189004277G>C | CA430312201 | COL3A1 | c.2745G>C (p.Gly915=) c.2844G>C (p.Gly948=) c.2527+1241G>C (n.2527+1241G>C) | |
| 2 | g.189004277G= | CA1315403161 | COL3A1 | c.2745G= (p.Gly915=) c.2844G= (p.Gly948=) c.2527+1241G= (n.2527+1241G=) | |
| 2 | g.189004277G>T | CA430312202 | COL3A1 | c.2745G>T (p.Gly915=) c.2844G>T (p.Gly948=) c.2527+1241G>T (n.2527+1241G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004278A>C | CA349844473 | COL3A1 | c.2746A>C (p.Ile916Leu) c.2845A>C (p.Ile949Leu) c.2527+1242A>C (n.2527+1242A>C) | |
| 2 | g.189004278A>G | CA349844475 | COL3A1 | c.2746A>G (p.Ile916Val) c.2845A>G (p.Ile949Val) c.2527+1242A>G (n.2527+1242A>G) | |
| 2 | g.189004278A>T | CA349844476 | COL3A1 | c.2746A>T (p.Ile916Phe) c.2845A>T (p.Ile949Phe) c.2527+1242A>T (n.2527+1242A>T) | |
| 2 | g.189004279T>A | CA349844480 | COL3A1 | c.2747T>A (p.Ile916Asn) c.2846T>A (p.Ile949Asn) c.2527+1243T>A (n.2527+1243T>A) | gnomAD v4 |
| 2 | g.189004279T>C | CA349844482 | COL3A1 | c.2747T>C (p.Ile916Thr) c.2846T>C (p.Ile949Thr) c.2527+1243T>C (n.2527+1243T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004279T>G | CA349844484 | COL3A1 | c.2747T>G (p.Ile916Ser) c.2846T>G (p.Ile949Ser) c.2527+1243T>G (n.2527+1243T>G) | |
| 2 | g.189004279T= | CA1315403162 | COL3A1 | c.2747T= (p.Ile916=) c.2846T= (p.Ile949=) c.2527+1243T= (n.2527+1243T=) | |
| 2 | g.189004280T>A | CA430312203 | COL3A1 | c.2748T>A (p.Ile916=) c.2847T>A (p.Ile949=) c.2527+1244T>A (n.2527+1244T>A) | |
| 2 | g.189004280T>C | CA430312204 | COL3A1 | c.2748T>C (p.Ile916=) c.2847T>C (p.Ile949=) c.2527+1244T>C (n.2527+1244T>C) | |
| 2 | g.189004280T>G | CA349844487 | COL3A1 | c.2748T>G (p.Ile916Met) c.2847T>G (p.Ile949Met) c.2527+1244T>G (n.2527+1244T>G) | |
| 2 | g.189004281G>A | CA349844490 | COL3A1 | c.2749G>A (p.Ala917Thr) c.2848G>A (p.Ala950Thr) c.2527+1245G>A (n.2527+1245G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004281G>C | CA349844491 | COL3A1 | c.2749G>C (p.Ala917Pro) c.2848G>C (p.Ala950Pro) c.2527+1245G>C (n.2527+1245G>C) | gnomAD v4 |
| 2 | g.189004281G= | CA1315403163 | COL3A1 | c.2749G= (p.Ala917=) c.2848G= (p.Ala950=) c.2527+1245G= (n.2527+1245G=) | |
| 2 | g.189004281G>T | CA349844494 | COL3A1 | c.2749G>T (p.Ala917Ser) c.2848G>T (p.Ala950Ser) c.2527+1245G>T (n.2527+1245G>T) | |
| 2 | g.189004282C>A | CA349844496 | COL3A1 | c.2750C>A (p.Ala917Asp) c.2849C>A (p.Ala950Asp) c.2527+1246C>A (n.2527+1246C>A) | gnomAD v4 |
| 2 | g.189004282C>G | CA349844500 | COL3A1 | c.2750C>G (p.Ala917Gly) c.2849C>G (p.Ala950Gly) c.2527+1246C>G (n.2527+1246C>G) | |
| 2 | g.189004282C>T | CA349844498 | COL3A1 | c.2750C>T (p.Ala917Val) c.2849C>T (p.Ala950Val) c.2527+1246C>T (n.2527+1246C>T) | COSMIC |
| 2 | g.189004283T>A | CA430312207 | COL3A1 | c.2751T>A (p.Ala917=) c.2850T>A (p.Ala950=) c.2527+1247T>A (n.2527+1247T>A) | |
| 2 | g.189004283T>C | CA430312205 | COL3A1 | c.2751T>C (p.Ala917=) c.2850T>C (p.Ala950=) c.2527+1247T>C (n.2527+1247T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004283T>G | CA430312206 | COL3A1 | c.2751T>G (p.Ala917=) c.2850T>G (p.Ala950=) c.2527+1247T>G (n.2527+1247T>G) | |
| 2 | g.189004283T= | CA1315403164 | COL3A1 | c.2751T= (p.Ala917=) c.2850T= (p.Ala950=) c.2527+1247T= (n.2527+1247T=) | |
| 2 | g.189004284G>A | CA349844504 | COL3A1 | c.2752G>A (p.Gly918Arg) c.2851G>A (p.Gly951Arg) c.2527+1248G>A (n.2527+1248G>A) | gnomAD v4 |
| 2 | g.189004284G>C | CA349844505 | COL3A1 | c.2752G>C (p.Gly918Arg) c.2851G>C (p.Gly951Arg) c.2527+1248G>C (n.2527+1248G>C) | |
| 2 | g.189004284G>T | CA349844506 | COL3A1 | c.2752G>T (p.Gly918Trp) c.2851G>T (p.Gly951Trp) c.2527+1248G>T (n.2527+1248G>T) | gnomAD v4 |
| 2 | g.189004285G>A | CA349844508 | COL3A1 | c.2753G>A (p.Gly918Glu) c.2852G>A (p.Gly951Glu) c.2527+1249G>A (n.2527+1249G>A) | gnomAD v4 |
| 2 | g.189004285G>C | CA349844510 | COL3A1 | c.2753G>C (p.Gly918Ala) c.2852G>C (p.Gly951Ala) c.2527+1249G>C (n.2527+1249G>C) | |
| 2 | g.189004285G>T | CA349844511 | COL3A1 | c.2753G>T (p.Gly918Val) c.2852G>T (p.Gly951Val) c.2527+1249G>T (n.2527+1249G>T) | |
| 2 | g.189004286G>A | CA430312208 | COL3A1 | c.2754G>A (p.Gly918=) c.2853G>A (p.Gly951=) c.2527+1250G>A (n.2527+1250G>A) | ClinVar COSMIC |
| 2 | g.189004286G>C | CA430312209 | COL3A1 | c.2754G>C (p.Gly918=) c.2853G>C (p.Gly951=) c.2527+1250G>C (n.2527+1250G>C) | |
| 2 | g.189004286G= | CA1315403165 | COL3A1 | c.2754G= (p.Gly918=) c.2853G= (p.Gly951=) c.2527+1250G= (n.2527+1250G=) | |
| 2 | g.189004286G>T | CA430312210 | COL3A1 | c.2754G>T (p.Gly918=) c.2853G>T (p.Gly951=) c.2527+1250G>T (n.2527+1250G>T) | dbSNP gnomAD v4 |
| 2 | g.189004287A= | CA1315403166 | COL3A1 | c.2755A= (p.Ile919=) c.2854A= (p.Ile952=) c.2527+1251A= (n.2527+1251A=) | |
| 2 | g.189004287A>C | CA349844515 | COL3A1 | c.2755A>C (p.Ile919Leu) c.2854A>C (p.Ile952Leu) c.2527+1251A>C (n.2527+1251A>C) | |
| 2 | g.189004287A>G | CA349844517 | COL3A1 | c.2755A>G (p.Ile919Val) c.2854A>G (p.Ile952Val) c.2527+1251A>G (n.2527+1251A>G) | dbSNP gnomAD v4 |
| 2 | g.189004287A>T | CA349844518 | COL3A1 | c.2755A>T (p.Ile919Phe) c.2854A>T (p.Ile952Phe) c.2527+1251A>T (n.2527+1251A>T) | gnomAD v4 |
| 2 | g.189004288T>A | CA349844521 | COL3A1 | c.2756T>A (p.Ile919Asn) c.2855T>A (p.Ile952Asn) c.2527+1252T>A (n.2527+1252T>A) | |
| 2 | g.189004288T>C | CA349844520 | COL3A1 | c.2756T>C (p.Ile919Thr) c.2855T>C (p.Ile952Thr) c.2527+1252T>C (n.2527+1252T>C) | |
| 2 | g.189004288T>G | CA349844519 | COL3A1 | c.2756T>G (p.Ile919Ser) c.2855T>G (p.Ile952Ser) c.2527+1252T>G (n.2527+1252T>G) | |
| 2 | g.189004289C>A | CA430312211 | COL3A1 | c.2757C>A (p.Ile919=) c.2856C>A (p.Ile952=) c.2527+1253C>A (n.2527+1253C>A) | |
| 2 | g.189004289C= | CA1315403167 | COL3A1 | c.2757C= (p.Ile919=) c.2856C= (p.Ile952=) c.2527+1253C= (n.2527+1253C=) | |
| 2 | g.189004289C>G | CA349844522 | COL3A1 | c.2757C>G (p.Ile919Met) c.2856C>G (p.Ile952Met) c.2527+1253C>G (n.2527+1253C>G) | |
| 2 | g.189004289C>T | CA430312212 | COL3A1 | c.2757C>T (p.Ile919=) c.2856C>T (p.Ile952=) c.2527+1253C>T (n.2527+1253C>T) | dbSNP gnomAD v4 |
| 2 | g.189004290A>C | CA349844523 | COL3A1 | c.2758A>C (p.Thr920Pro) c.2857A>C (p.Thr953Pro) c.2527+1254A>C (n.2527+1254A>C) | gnomAD v4 |
| 2 | g.189004290A>G | CA349844524 | COL3A1 | c.2758A>G (p.Thr920Ala) c.2857A>G (p.Thr953Ala) c.2527+1254A>G (n.2527+1254A>G) | gnomAD v4 |
| 2 | g.189004290A>T | CA349844525 | COL3A1 | c.2758A>T (p.Thr920Ser) c.2857A>T (p.Thr953Ser) c.2527+1254A>T (n.2527+1254A>T) | |
| 2 | g.189004291C>A | CA349844526 | COL3A1 | c.2759C>A (p.Thr920Asn) c.2858C>A (p.Thr953Asn) c.2527+1255C>A (n.2527+1255C>A) | gnomAD v4 |
| 2 | g.189004291C>G | CA349844527 | COL3A1 | c.2759C>G (p.Thr920Ser) c.2858C>G (p.Thr953Ser) c.2527+1255C>G (n.2527+1255C>G) | gnomAD v4 |
| 2 | g.189004291C>T | CA349844528 | COL3A1 | c.2759C>T (p.Thr920Ile) c.2858C>T (p.Thr953Ile) c.2527+1255C>T (n.2527+1255C>T) | |
| 2 | g.189004292T>A | CA430312213 | COL3A1 | c.2760T>A (p.Thr920=) c.2859T>A (p.Thr953=) c.2527+1256T>A (n.2527+1256T>A) | dbSNP |
| 2 | g.189004292T>C | CA430312214 | COL3A1 | c.2760T>C (p.Thr920=) c.2859T>C (p.Thr953=) c.2527+1256T>C (n.2527+1256T>C) | |
| 2 | g.189004292T>G | CA430312215 | COL3A1 | c.2760T>G (p.Thr920=) c.2859T>G (p.Thr953=) c.2527+1256T>G (n.2527+1256T>G) | gnomAD v4 |
| 2 | g.189004292T= | CA1315403168 | COL3A1 | c.2760T= (p.Thr920=) c.2859T= (p.Thr953=) c.2527+1256T= (n.2527+1256T=) | |
| 2 | g.189004293G>A | CA005755 | COL3A1 | c.2761G>A (p.Gly921Arg) c.2860G>A (p.Gly954Arg) c.2527+1257G>A (n.2527+1257G>A) | ClinVar dbSNP |
| 2 | g.189004293G>C | CA349844529 | COL3A1 | c.2761G>C (p.Gly921Arg) c.2860G>C (p.Gly954Arg) c.2527+1257G>C (n.2527+1257G>C) | |
| 2 | g.189004293G= | CA1315403169 | COL3A1 | c.2761G= (p.Gly921=) c.2860G= (p.Gly954=) c.2527+1257G= (n.2527+1257G=) | |
| 2 | g.189004293G>T | CA349844530 | COL3A1 | c.2761G>T (p.Gly921Ter) c.2860G>T (p.Gly954Ter) c.2527+1257G>T (n.2527+1257G>T) | |
| 2 | g.189004294G>A | CA005762 | COL3A1 | c.2762G>A (p.Gly921Glu) c.2861G>A (p.Gly954Glu) c.2527+1258G>A (n.2527+1258G>A) | ClinVar dbSNP |
| 2 | g.189004294G>C | CA349844531 | COL3A1 | c.2762G>C (p.Gly921Ala) c.2861G>C (p.Gly954Ala) c.2527+1258G>C (n.2527+1258G>C) | |
| 2 | g.189004294G= | CA1315403170 | COL3A1 | c.2762G= (p.Gly921=) c.2861G= (p.Gly954=) c.2527+1258G= (n.2527+1258G=) | |
| 2 | g.189004294G>T | CA349844532 | COL3A1 | c.2762G>T (p.Gly921Val) c.2861G>T (p.Gly954Val) c.2527+1258G>T (n.2527+1258G>T) | gnomAD v4 |
| 2 | g.189004295A= | CA1315403171 | COL3A1 | c.2763A= (p.Gly921=) c.2862A= (p.Gly954=) c.2527+1259A= (n.2527+1259A=) | |
| 2 | g.189004295A>C | CA430312216 | COL3A1 | c.2763A>C (p.Gly921=) c.2862A>C (p.Gly954=) c.2527+1259A>C (n.2527+1259A>C) | |
| 2 | g.189004295A>G | CA430312217 | COL3A1 | c.2763A>G (p.Gly921=) c.2862A>G (p.Gly954=) c.2527+1259A>G (n.2527+1259A>G) | |
| 2 | g.189004295A>T | CA430312218 | COL3A1 | c.2763A>T (p.Gly921=) c.2862A>T (p.Gly954=) c.2527+1259A>T (n.2527+1259A>T) | ClinVar dbSNP gnomAD v2 |
| 2 | g.189004296G>A | CA349844533 | COL3A1 | c.2764G>A (p.Ala922Thr) c.2863G>A (p.Ala955Thr) c.2527+1260G>A (n.2527+1260G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004296G>C | CA349844535 | COL3A1 | c.2764G>C (p.Ala922Pro) c.2863G>C (p.Ala955Pro) c.2527+1260G>C (n.2527+1260G>C) | |
| 2 | g.189004296G= | CA1315403172 | COL3A1 | c.2764G= (p.Ala922=) c.2863G= (p.Ala955=) c.2527+1260G= (n.2527+1260G=) | |
| 2 | g.189004296G>T | CA349844534 | COL3A1 | c.2764G>T (p.Ala922Ser) c.2863G>T (p.Ala955Ser) c.2527+1260G>T (n.2527+1260G>T) | |
| 2 | g.189004297C>A | CA349844536 | COL3A1 | c.2765C>A (p.Ala922Glu) c.2864C>A (p.Ala955Glu) c.2527+1261C>A (n.2527+1261C>A) | |
| 2 | g.189004297C>G | CA349844537 | COL3A1 | c.2765C>G (p.Ala922Gly) c.2864C>G (p.Ala955Gly) c.2527+1261C>G (n.2527+1261C>G) | |
| 2 | g.189004297C>T | CA349844538 | COL3A1 | c.2765C>T (p.Ala922Val) c.2864C>T (p.Ala955Val) c.2527+1261C>T (n.2527+1261C>T) | gnomAD v3 gnomAD v4 |
| 2 | g.189004298A= | CA1315403173 | COL3A1 | c.2766A= (p.Ala922=) c.2865A= (p.Ala955=) c.2527+1262A= (n.2527+1262A=) | |
| 2 | g.189004298A>C | CA430312219 | COL3A1 | c.2766A>C (p.Ala922=) c.2865A>C (p.Ala955=) c.2527+1262A>C (n.2527+1262A>C) | |
| 2 | g.189004298A>G | CA430312220 | COL3A1 | c.2766A>G (p.Ala922=) c.2865A>G (p.Ala955=) c.2527+1262A>G (n.2527+1262A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004298A>T | CA430312221 | COL3A1 | c.2766A>T (p.Ala922=) c.2865A>T (p.Ala955=) c.2527+1262A>T (n.2527+1262A>T) | |
| 2 | g.189004299C>A | CA430312222 | COL3A1 | c.2767C>A (p.Arg923=) c.2866C>A (p.Arg956=) c.2527+1263C>A (n.2527+1263C>A) | |
| 2 | g.189004299C= | CA1315403174 | COL3A1 | c.2767C= (p.Arg923=) c.2866C= (p.Arg956=) c.2527+1263C= (n.2527+1263C=) | |
| 2 | g.189004299C>G | CA349844539 | COL3A1 | c.2767C>G (p.Arg923Gly) c.2866C>G (p.Arg956Gly) c.2527+1263C>G (n.2527+1263C>G) | |
| 2 | g.189004299C>T | CA62557533 | COL3A1 | c.2767C>T (p.Arg923Trp) c.2866C>T (p.Arg956Trp) c.2527+1263C>T (n.2527+1263C>T) | dbSNP gnomAD v4 |
| 2 | g.189004300G>A | CA349844540 | COL3A1 | c.2768G>A (p.Arg923Gln) c.2867G>A (p.Arg956Gln) c.2527+1264G>A (n.2527+1264G>A) | ClinVar gnomAD v4 COSMIC |
| 2 | g.189004300G>C | CA349844541 | COL3A1 | c.2768G>C (p.Arg923Pro) c.2867G>C (p.Arg956Pro) c.2527+1264G>C (n.2527+1264G>C) | ClinVar gnomAD v4 |
| 2 | g.189004300G>T | CA349844542 | COL3A1 | c.2768G>T (p.Arg923Leu) c.2867G>T (p.Arg956Leu) c.2527+1264G>T (n.2527+1264G>T) | ClinVar |
| 2 | g.189004301G>A | CA62557534 | COL3A1 | c.2769G>A (p.Arg923=) c.2868G>A (p.Arg956=) c.2527+1265G>A (n.2527+1265G>A) | dbSNP gnomAD v4 COSMIC |
| 2 | g.189004301G>C | CA430312223 | COL3A1 | c.2769G>C (p.Arg923=) c.2868G>C (p.Arg956=) c.2527+1265G>C (n.2527+1265G>C) | dbSNP |
| 2 | g.189004301G= | CA1315403175 | COL3A1 | c.2769G= (p.Arg923=) c.2868G= (p.Arg956=) c.2527+1265G= (n.2527+1265G=) | |
| 2 | g.189004301G>T | CA430312224 | COL3A1 | c.2769G>T (p.Arg923=) c.2868G>T (p.Arg956=) c.2527+1265G>T (n.2527+1265G>T) | |
| 2 | g.189004302G>A | CA62557535 | COL3A1 | c.2770G>A (p.Gly924Ser) c.2869G>A (p.Gly957Ser) c.2527+1266G>A (n.2527+1266G>A) | ClinVar dbSNP |
| 2 | g.189004302G>C | CA349844543 | COL3A1 | c.2770G>C (p.Gly924Arg) c.2869G>C (p.Gly957Arg) c.2527+1266G>C (n.2527+1266G>C) | |
| 2 | g.189004302G= | CA1315403176 | COL3A1 | c.2770G= (p.Gly924=) c.2869G= (p.Gly957=) c.2527+1266G= (n.2527+1266G=) | |
| 2 | g.189004302G>T | CA005768 | COL3A1 | c.2770G>T (p.Gly924Cys) c.2869G>T (p.Gly957Cys) c.2527+1266G>T (n.2527+1266G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004303G>A | CA005775 | COL3A1 | c.2771G>A (p.Gly924Asp) c.2870G>A (p.Gly957Asp) c.2527+1267G>A (n.2527+1267G>A) | ClinVar dbSNP |
| 2 | g.189004303G>C | CA349844544 | COL3A1 | c.2771G>C (p.Gly924Ala) c.2870G>C (p.Gly957Ala) c.2527+1267G>C (n.2527+1267G>C) | |
| 2 | g.189004303G= | CA1315403177 | COL3A1 | c.2771G= (p.Gly924=) c.2870G= (p.Gly957=) c.2527+1267G= (n.2527+1267G=) | |
| 2 | g.189004303G>T | CA005782 | COL3A1 | c.2771G>T (p.Gly924Val) c.2870G>T (p.Gly957Val) c.2527+1267G>T (n.2527+1267G>T) | ClinVar dbSNP |
| 2 | g.189004304T>A | CA430312225 | COL3A1 | c.2772T>A (p.Gly924=) c.2871T>A (p.Gly957=) c.2527+1268T>A (n.2527+1268T>A) | |
| 2 | g.189004304T>C | CA430312226 | COL3A1 | c.2772T>C (p.Gly924=) c.2871T>C (p.Gly957=) c.2527+1268T>C (n.2527+1268T>C) | |
| 2 | g.189004304T>G | CA430312227 | COL3A1 | c.2772T>G (p.Gly924=) c.2871T>G (p.Gly957=) c.2527+1268T>G (n.2527+1268T>G) | |
| 2 | g.189004305C>A | CA349844546 | COL3A1 | c.2773C>A (p.Leu925Ile) c.2872C>A (p.Leu958Ile) c.2527+1269C>A (n.2527+1269C>A) | |
| 2 | g.189004305C= | CA1315403178 | COL3A1 | c.2773C= (p.Leu925=) c.2872C= (p.Leu958=) c.2527+1269C= (n.2527+1269C=) | |
| 2 | g.189004305C>G | CA349844545 | COL3A1 | c.2773C>G (p.Leu925Val) c.2872C>G (p.Leu958Val) c.2527+1269C>G (n.2527+1269C>G) | |
| 2 | g.189004305C>T | CA075687 | COL3A1 | c.2773C>T (p.Leu925Phe) c.2872C>T (p.Leu958Phe) c.2527+1269C>T (n.2527+1269C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189004306T>A | CA349844547 | COL3A1 | c.2774T>A (p.Leu925His) c.2873T>A (p.Leu958His) c.2527+1270T>A (n.2527+1270T>A) | |
| 2 | g.189004306T>C | CA349844548 | COL3A1 | c.2774T>C (p.Leu925Pro) c.2873T>C (p.Leu958Pro) c.2527+1270T>C (n.2527+1270T>C) | |
| 2 | g.189004306T>G | CA349844549 | COL3A1 | c.2774T>G (p.Leu925Arg) c.2873T>G (p.Leu958Arg) c.2527+1270T>G (n.2527+1270T>G) | |
| 2 | g.189004307T>A | CA430312228 | COL3A1 | c.2775T>A (p.Leu925=) c.2874T>A (p.Leu958=) c.2527+1271T>A (n.2527+1271T>A) | |
| 2 | g.189004307T>C | CA430312229 | COL3A1 | c.2775T>C (p.Leu925=) c.2874T>C (p.Leu958=) c.2527+1271T>C (n.2527+1271T>C) | gnomAD v4 |
| 2 | g.189004307T>G | CA430312230 | COL3A1 | c.2775T>G (p.Leu925=) c.2874T>G (p.Leu958=) c.2527+1271T>G (n.2527+1271T>G) | |
| 2 | g.189004308G>A | CA349844550 | COL3A1 | c.2776G>A (p.Ala926Thr) c.2875G>A (p.Ala959Thr) c.2527+1272G>A (n.2527+1272G>A) | gnomAD v4 |
| 2 | g.189004308G>C | CA349844551 | COL3A1 | c.2776G>C (p.Ala926Pro) c.2875G>C (p.Ala959Pro) c.2527+1272G>C (n.2527+1272G>C) | |
| 2 | g.189004308G= | CA1315403179 | COL3A1 | c.2776G= (p.Ala926=) c.2875G= (p.Ala959=) c.2527+1272G= (n.2527+1272G=) | |
| 2 | g.189004308G>T | CA349844552 | COL3A1 | c.2776G>T (p.Ala926Ser) c.2875G>T (p.Ala959Ser) c.2527+1272G>T (n.2527+1272G>T) | dbSNP gnomAD v4 |
| 2 | g.189004309C>A | CA349844553 | COL3A1 | c.2777C>A (p.Ala926Glu) c.2876C>A (p.Ala959Glu) c.2527+1273C>A (n.2527+1273C>A) | |
| 2 | g.189004309C>G | CA349844555 | COL3A1 | c.2777C>G (p.Ala926Gly) c.2876C>G (p.Ala959Gly) c.2527+1273C>G (n.2527+1273C>G) | |
| 2 | g.189004309C>T | CA349844554 | COL3A1 | c.2777C>T (p.Ala926Val) c.2876C>T (p.Ala959Val) c.2527+1273C>T (n.2527+1273C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004310A= | CA1315403180 | COL3A1 | c.2778A= (p.Ala926=) c.2877A= (p.Ala959=) c.2527+1274A= (n.2527+1274A=) | |
| 2 | g.189004310A>C | CA430312232 | COL3A1 | c.2778A>C (p.Ala926=) c.2877A>C (p.Ala959=) c.2527+1274A>C (n.2527+1274A>C) | |
| 2 | g.189004310A>G | CA62557556 | COL3A1 | c.2778A>G (p.Ala926=) c.2877A>G (p.Ala959=) c.2527+1274A>G (n.2527+1274A>G) | dbSNP gnomAD v4 |
| 2 | g.189004310A>T | CA430312231 | COL3A1 | c.2778A>T (p.Ala926=) c.2877A>T (p.Ala959=) c.2527+1274A>T (n.2527+1274A>T) | dbSNP |
| 2 | g.189004311G>A | CA349844556 | COL3A1 | c.2779G>A (p.Gly927Arg) c.2878G>A (p.Gly960Arg) c.2527+1275G>A (n.2527+1275G>A) | |
| 2 | g.189004311G>C | CA349844557 | COL3A1 | c.2779G>C (p.Gly927Arg) c.2878G>C (p.Gly960Arg) c.2527+1275G>C (n.2527+1275G>C) | |
| 2 | g.189004311G>T | CA349844558 | COL3A1 | c.2779G>T (p.Gly927Ter) c.2878G>T (p.Gly960Ter) c.2527+1275G>T (n.2527+1275G>T) | gnomAD v4 |
| 2 | g.189004312G>A | CA349844559 | COL3A1 | c.2780G>A (p.Gly927Glu) c.2879G>A (p.Gly960Glu) c.2527+1276G>A (n.2527+1276G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004312G>C | CA349844560 | COL3A1 | c.2780G>C (p.Gly927Ala) c.2879G>C (p.Gly960Ala) c.2527+1276G>C (n.2527+1276G>C) | |
| 2 | g.189004312G= | CA1315403181 | COL3A1 | c.2780G= (p.Gly927=) c.2879G= (p.Gly960=) c.2527+1276G= (n.2527+1276G=) | |
| 2 | g.189004312G>T | CA005790 | COL3A1 | c.2780G>T (p.Gly927Val) c.2879G>T (p.Gly960Val) c.2527+1276G>T (n.2527+1276G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004313A>C | CA430312235 | COL3A1 | c.2781A>C (p.Gly927=) c.2880A>C (p.Gly960=) c.2527+1277A>C (n.2527+1277A>C) | |
| 2 | g.189004313A>G | CA430312234 | COL3A1 | c.2781A>G (p.Gly927=) c.2880A>G (p.Gly960=) c.2527+1277A>G (n.2527+1277A>G) | gnomAD v4 |
| 2 | g.189004313A>T | CA430312233 | COL3A1 | c.2781A>T (p.Gly927=) c.2880A>T (p.Gly960=) c.2527+1277A>T (n.2527+1277A>T) | |
| 2 | g.189004314C>A | CA349844561 | COL3A1 | c.2782C>A (p.Pro928Thr) c.2881C>A (p.Pro961Thr) c.2527+1278C>A (n.2527+1278C>A) | |
| 2 | g.189004314C>G | CA349844562 | COL3A1 | c.2782C>G (p.Pro928Ala) c.2881C>G (p.Pro961Ala) c.2527+1278C>G (n.2527+1278C>G) | |
| 2 | g.189004314C>T | CA349844563 | COL3A1 | c.2782C>T (p.Pro928Ser) c.2881C>T (p.Pro961Ser) c.2527+1278C>T (n.2527+1278C>T) | |
| 2 | g.189004315C>A | CA349844564 | COL3A1 | c.2783C>A (p.Pro928Gln) c.2882C>A (p.Pro961Gln) c.2527+1279C>A (n.2527+1279C>A) | |
| 2 | g.189004315C>G | CA349844565 | COL3A1 | c.2783C>G (p.Pro928Arg) c.2882C>G (p.Pro961Arg) c.2527+1279C>G (n.2527+1279C>G) | |
| 2 | g.189004315C>T | CA349844566 | COL3A1 | c.2783C>T (p.Pro928Leu) c.2882C>T (p.Pro961Leu) c.2527+1279C>T (n.2527+1279C>T) | gnomAD v4 |
| 2 | g.189004316A>C | CA430312236 | COL3A1 | c.2784A>C (p.Pro928=) c.2883A>C (p.Pro961=) c.2527+1280A>C (n.2527+1280A>C) | |
| 2 | g.189004316A>G | CA430312238 | COL3A1 | c.2784A>G (p.Pro928=) c.2883A>G (p.Pro961=) c.2527+1280A>G (n.2527+1280A>G) | |
| 2 | g.189004316A>T | CA430312237 | COL3A1 | c.2784A>T (p.Pro928=) c.2883A>T (p.Pro961=) c.2527+1280A>T (n.2527+1280A>T) | |
| 2 | g.189004317C>A | CA349844567 | COL3A1 | c.2785C>A (p.Pro929Thr) c.2884C>A (p.Pro962Thr) c.2527+1281C>A (n.2527+1281C>A) | |
| 2 | g.189004317C>G | CA349844568 | COL3A1 | c.2785C>G (p.Pro929Ala) c.2884C>G (p.Pro962Ala) c.2527+1281C>G (n.2527+1281C>G) | |
| 2 | g.189004317C>T | CA349844569 | COL3A1 | c.2785C>T (p.Pro929Ser) c.2884C>T (p.Pro962Ser) c.2527+1281C>T (n.2527+1281C>T) | gnomAD v4 |
| 2 | g.189004318del | CA2662310097 | COL3A1 | c.2786del (p.Pro929GlnfsTer?) c.2885del (p.Pro962GlnfsTer?) c.2527+1282del (n.2527+1282del) | gnomAD v4 |
| 2 | g.189004318C>A | CA075690 | COL3A1 | c.2786C>A (p.Pro929Gln) c.2885C>A (p.Pro962Gln) c.2527+1282C>A (n.2527+1282C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004318C= | CA1315403182 | COL3A1 | c.2786C= (p.Pro929=) c.2885C= (p.Pro962=) c.2527+1282C= (n.2527+1282C=) | |
| 2 | g.189004318C>G | CA349844570 | COL3A1 | c.2786C>G (p.Pro929Arg) c.2885C>G (p.Pro962Arg) c.2527+1282C>G (n.2527+1282C>G) | gnomAD v4 |
| 2 | g.189004318C>T | CA349844571 | COL3A1 | c.2786C>T (p.Pro929Leu) c.2885C>T (p.Pro962Leu) c.2527+1282C>T (n.2527+1282C>T) | COSMIC |
| 2 | g.189004319A= | CA1315403183 | COL3A1 | c.2787A= (p.Pro929=) c.2886A= (p.Pro962=) c.2527+1283A= (n.2527+1283A=) | |
| 2 | g.189004319A>C | CA430312239 | COL3A1 | c.2787A>C (p.Pro929=) c.2886A>C (p.Pro962=) c.2527+1283A>C (n.2527+1283A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004319A>G | CA430312240 | COL3A1 | c.2787A>G (p.Pro929=) c.2886A>G (p.Pro962=) c.2527+1283A>G (n.2527+1283A>G) | ClinVar gnomAD v4 |
| 2 | g.189004319A>T | CA430312241 | COL3A1 | c.2787A>T (p.Pro929=) c.2886A>T (p.Pro962=) c.2527+1283A>T (n.2527+1283A>T) | gnomAD v4 |
| 2 | g.189004320G>A | CA349844572 | COL3A1 | c.2788G>A (p.Gly930Ser) c.2887G>A (p.Gly963Ser) c.2527+1284G>A (n.2527+1284G>A) | ClinVar |
| 2 | g.189004320G>C | CA005799 | COL3A1 | c.2788G>C (p.Gly930Arg) c.2887G>C (p.Gly963Arg) c.2527+1284G>C (n.2527+1284G>C) | ClinVar dbSNP |
| 2 | g.189004320G= | CA1315403184 | COL3A1 | c.2788G= (p.Gly930=) c.2887G= (p.Gly963=) c.2527+1284G= (n.2527+1284G=) | |
| 2 | g.189004320G>T | CA005806 | COL3A1 | c.2788G>T (p.Gly930Cys) c.2887G>T (p.Gly963Cys) c.2527+1284G>T (n.2527+1284G>T) | ClinVar dbSNP |
| 2 | g.189004321del | CA2580065368 | COL3A1 | c.2789del (p.Gly930AlafsTer?) c.2888del (p.Gly963AlafsTer?) c.2527+1285del (n.2527+1285del) | ClinVar |
| 2 | g.189004321G>A | CA005816 | COL3A1 | c.2789G>A (p.Gly930Asp) c.2888G>A (p.Gly963Asp) c.2527+1285G>A (n.2527+1285G>A) | ClinVar dbSNP |
| 2 | g.189004321G>C | CA349844573 | COL3A1 | c.2789G>C (p.Gly930Ala) c.2888G>C (p.Gly963Ala) c.2527+1285G>C (n.2527+1285G>C) | |
| 2 | g.189004321G= | CA1315403185 | COL3A1 | c.2789G= (p.Gly930=) c.2888G= (p.Gly963=) c.2527+1285G= (n.2527+1285G=) | |
| 2 | g.189004321G>T | CA349844574 | COL3A1 | c.2789G>T (p.Gly930Val) c.2888G>T (p.Gly963Val) c.2527+1285G>T (n.2527+1285G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004322C>A | CA430312242 | COL3A1 | c.2790C>A (p.Gly930=) c.2889C>A (p.Gly963=) c.2527+1286C>A (n.2527+1286C>A) | gnomAD v4 |
| 2 | g.189004322C>G | CA430312243 | COL3A1 | c.2790C>G (p.Gly930=) c.2889C>G (p.Gly963=) c.2527+1286C>G (n.2527+1286C>G) | |
| 2 | g.189004322C>T | CA430312244 | COL3A1 | c.2790C>T (p.Gly930=) c.2889C>T (p.Gly963=) c.2527+1286C>T (n.2527+1286C>T) | gnomAD v4 |
| 2 | g.189004323A>C | CA349844575 | COL3A1 | c.2791A>C (p.Met931Leu) c.2890A>C (p.Met964Leu) c.2527+1287A>C (n.2527+1287A>C) | |
| 2 | g.189004323A>G | CA349844576 | COL3A1 | c.2791A>G (p.Met931Val) c.2890A>G (p.Met964Val) c.2527+1287A>G (n.2527+1287A>G) | |
| 2 | g.189004323A>T | CA349844577 | COL3A1 | c.2791A>T (p.Met931Leu) c.2890A>T (p.Met964Leu) c.2527+1287A>T (n.2527+1287A>T) | |
| 2 | g.189004324T>A | CA349844578 | COL3A1 | c.2792T>A (p.Met931Lys) c.2891T>A (p.Met964Lys) c.2527+1288T>A (n.2527+1288T>A) | |
| 2 | g.189004324T>C | CA349844579 | COL3A1 | c.2792T>C (p.Met931Thr) c.2891T>C (p.Met964Thr) c.2527+1288T>C (n.2527+1288T>C) | |
| 2 | g.189004324T>G | CA349844580 | COL3A1 | c.2792T>G (p.Met931Arg) c.2891T>G (p.Met964Arg) c.2527+1288T>G (n.2527+1288T>G) | |
| 2 | g.189004325G>A | CA349844581 | COL3A1 | c.2793G>A (p.Met931Ile) c.2892G>A (p.Met964Ile) c.2527+1289G>A (n.2527+1289G>A) | |
| 2 | g.189004325G>C | CA349844582 | COL3A1 | c.2793G>C (p.Met931Ile) c.2892G>C (p.Met964Ile) c.2527+1289G>C (n.2527+1289G>C) | |
| 2 | g.189004325G>T | CA349844583 | COL3A1 | c.2793G>T (p.Met931Ile) c.2892G>T (p.Met964Ile) c.2527+1289G>T (n.2527+1289G>T) | gnomAD v4 |
| 2 | g.189004326C>A | CA349844586 | COL3A1 | c.2794C>A (p.Pro932Thr) c.2893C>A (p.Pro965Thr) c.2527+1290C>A (n.2527+1290C>A) | dbSNP gnomAD v4 |
| 2 | g.189004326C= | CA1315403186 | COL3A1 | c.2794C= (p.Pro932=) c.2893C= (p.Pro965=) c.2527+1290C= (n.2527+1290C=) | |
| 2 | g.189004326C>G | CA349844585 | COL3A1 | c.2794C>G (p.Pro932Ala) c.2893C>G (p.Pro965Ala) c.2527+1290C>G (n.2527+1290C>G) | |
| 2 | g.189004326C>T | CA349844584 | COL3A1 | c.2794C>T (p.Pro932Ser) c.2893C>T (p.Pro965Ser) c.2527+1290C>T (n.2527+1290C>T) | gnomAD v4 COSMIC |
| 2 | g.189004327C>A | CA349844587 | COL3A1 | c.2795C>A (p.Pro932Gln) c.2894C>A (p.Pro965Gln) c.2527+1291C>A (n.2527+1291C>A) | gnomAD v4 |
| 2 | g.189004327C>G | CA349844588 | COL3A1 | c.2795C>G (p.Pro932Arg) c.2894C>G (p.Pro965Arg) c.2527+1291C>G (n.2527+1291C>G) | |
| 2 | g.189004327C>T | CA349844589 | COL3A1 | c.2795C>T (p.Pro932Leu) c.2894C>T (p.Pro965Leu) c.2527+1291C>T (n.2527+1291C>T) | gnomAD v4 |
| 2 | g.189004328A= | CA1315403187 | COL3A1 | c.2796A= (p.Pro932=) c.2895A= (p.Pro965=) c.2527+1292A= (n.2527+1292A=) | |
| 2 | g.189004328A>C | CA430312245 | COL3A1 | c.2796A>C (p.Pro932=) c.2895A>C (p.Pro965=) c.2527+1292A>C (n.2527+1292A>C) | |
| 2 | g.189004328A>G | CA430312246 | COL3A1 | c.2796A>G (p.Pro932=) c.2895A>G (p.Pro965=) c.2527+1292A>G (n.2527+1292A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004328A>T | CA430312247 | COL3A1 | c.2796A>T (p.Pro932=) c.2895A>T (p.Pro965=) c.2527+1292A>T (n.2527+1292A>T) | gnomAD v4 |
| 2 | g.189004329G>A | CA349844590 | COL3A1 | c.2797G>A (p.Gly933Ser) c.2896G>A (p.Gly966Ser) c.2527+1293G>A (n.2527+1293G>A) | gnomAD v4 |
| 2 | g.189004329G>C | CA349844591 | COL3A1 | c.2797G>C (p.Gly933Arg) c.2896G>C (p.Gly966Arg) c.2527+1293G>C (n.2527+1293G>C) | |
| 2 | g.189004329G>T | CA349844592 | COL3A1 | c.2797G>T (p.Gly933Cys) c.2896G>T (p.Gly966Cys) c.2527+1293G>T (n.2527+1293G>T) | gnomAD v4 |
| 2 | g.189004330G>A | CA349844593 | COL3A1 | c.2798G>A (p.Gly933Asp) c.2897G>A (p.Gly966Asp) c.2527+1294G>A (n.2527+1294G>A) | gnomAD v4 |
| 2 | g.189004330G>C | CA349844594 | COL3A1 | c.2798G>C (p.Gly933Ala) c.2897G>C (p.Gly966Ala) c.2527+1294G>C (n.2527+1294G>C) | |
| 2 | g.189004330G= | CA1315403188 | COL3A1 | c.2798G= (p.Gly933=) c.2897G= (p.Gly966=) c.2527+1294G= (n.2527+1294G=) | |
| 2 | g.189004330G>T | CA005825 | COL3A1 | c.2798G>T (p.Gly933Val) c.2897G>T (p.Gly966Val) c.2527+1294G>T (n.2527+1294G>T) | ClinVar dbSNP |
| 2 | g.189004331T>A | CA430312250 | COL3A1 | c.2799T>A (p.Gly933=) c.2898T>A (p.Gly966=) c.2527+1295T>A (n.2527+1295T>A) | |
| 2 | g.189004331T>C | CA430312251 | COL3A1 | c.2799T>C (p.Gly933=) c.2898T>C (p.Gly966=) c.2527+1295T>C (n.2527+1295T>C) | |
| 2 | g.189004331T>G | CA430312249 | COL3A1 | c.2799T>G (p.Gly933=) c.2898T>G (p.Gly966=) c.2527+1295T>G (n.2527+1295T>G) | |
| 2 | g.189004332C>A | CA349844595 | COL3A1 | c.2800C>A (p.Pro934Thr) c.2899C>A (p.Pro967Thr) c.2527+1296C>A (n.2527+1296C>A) | ClinVar |
| 2 | g.189004332C>G | CA349844596 | COL3A1 | c.2800C>G (p.Pro934Ala) c.2899C>G (p.Pro967Ala) c.2527+1296C>G (n.2527+1296C>G) | gnomAD v4 |
| 2 | g.189004332C>T | CA349844597 | COL3A1 | c.2800C>T (p.Pro934Ser) c.2899C>T (p.Pro967Ser) c.2527+1296C>T (n.2527+1296C>T) | ClinVar |
| 2 | g.189004333del | CA2662310098 | COL3A1 | c.2801del (p.Pro934LeufsTer?) c.2900del (p.Pro967LeufsTer?) c.2527+1297del (n.2527+1297del) | gnomAD v4 |
| 2 | g.189004333C>A | CA349844600 | COL3A1 | c.2801C>A (p.Pro934His) c.2900C>A (p.Pro967His) c.2527+1297C>A (n.2527+1297C>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004333C= | CA1315403189 | COL3A1 | c.2801C= (p.Pro934=) c.2900C= (p.Pro967=) c.2527+1297C= (n.2527+1297C=) | |
| 2 | g.189004333C>G | CA349844599 | COL3A1 | c.2801C>G (p.Pro934Arg) c.2900C>G (p.Pro967Arg) c.2527+1297C>G (n.2527+1297C>G) | |
| 2 | g.189004333C>T | CA349844598 | COL3A1 | c.2801C>T (p.Pro934Leu) c.2900C>T (p.Pro967Leu) c.2527+1297C>T (n.2527+1297C>T) | gnomAD v4 |
| 2 | g.189004334T>A | CA430312256 | COL3A1 | c.2802T>A (p.Pro934=) c.2901T>A (p.Pro967=) c.2527+1298T>A (n.2527+1298T>A) | dbSNP gnomAD v2 |
| 2 | g.189004334T>C | CA430312258 | COL3A1 | c.2802T>C (p.Pro934=) c.2901T>C (p.Pro967=) c.2527+1298T>C (n.2527+1298T>C) | gnomAD v4 |
| 2 | g.189004334T>G | CA430312257 | COL3A1 | c.2802T>G (p.Pro934=) c.2901T>G (p.Pro967=) c.2527+1298T>G (n.2527+1298T>G) | |
| 2 | g.189004334T= | CA1315403190 | COL3A1 | c.2802T= (p.Pro934=) c.2901T= (p.Pro967=) c.2527+1298T= (n.2527+1298T=) | |
| 2 | g.189004335A= | CA1315403191 | COL3A1 | c.2803A= (p.Arg935=) c.2902A= (p.Arg968=) c.2527+1299A= (n.2527+1299A=) | |
| 2 | g.189004335A>C | CA430312260 | COL3A1 | c.2803A>C (p.Arg935=) c.2902A>C (p.Arg968=) c.2527+1299A>C (n.2527+1299A>C) | dbSNP |
| 2 | g.189004335A>G | CA349844601 | COL3A1 | c.2803A>G (p.Arg935Gly) c.2902A>G (p.Arg968Gly) c.2527+1299A>G (n.2527+1299A>G) | gnomAD v4 |
| 2 | g.189004335A>T | CA349844602 | COL3A1 | c.2803A>T (p.Arg935Trp) c.2902A>T (p.Arg968Trp) c.2527+1299A>T (n.2527+1299A>T) | |
| 2 | g.189004336G>A | CA349844603 | COL3A1 | c.2804G>A (p.Arg935Lys) c.2903G>A (p.Arg968Lys) c.2527+1300G>A (n.2527+1300G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189004336G>C | CA349844604 | COL3A1 | c.2804G>C (p.Arg935Thr) c.2903G>C (p.Arg968Thr) c.2527+1300G>C (n.2527+1300G>C) | |
| 2 | g.189004336G= | CA1315403192 | COL3A1 | c.2804G= (p.Arg935=) c.2903G= (p.Arg968=) c.2527+1300G= (n.2527+1300G=) | |
| 2 | g.189004336G>T | CA349844605 | COL3A1 | c.2804G>T (p.Arg935Met) c.2903G>T (p.Arg968Met) c.2527+1300G>T (n.2527+1300G>T) | gnomAD v4 |
| 2 | g.189004337G>A | CA075696 | COL3A1 | c.2805G>A (p.Arg935=) c.2904G>A (p.Arg968=) c.2527+1301G>A (n.2527+1301G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004337G>C | CA349844606 | COL3A1 | c.2805G>C (p.Arg935Ser) c.2904G>C (p.Arg968Ser) c.2527+1301G>C (n.2527+1301G>C) | gnomAD v4 |
| 2 | g.189004337G= | CA1315403193 | COL3A1 | c.2805G= (p.Arg935=) c.2904G= (p.Arg968=) c.2527+1301G= (n.2527+1301G=) | |
| 2 | g.189004337G>T | CA349844607 | COL3A1 | c.2805G>T (p.Arg935Ser) c.2904G>T (p.Arg968Ser) c.2527+1301G>T (n.2527+1301G>T) | |
| 2 | g.189004338G>A | CA005834 | COL3A1 | c.2806G>A (p.Gly936Arg) c.2905G>A (p.Gly969Arg) c.2527+1302G>A (n.2527+1302G>A) | ClinVar dbSNP |
| 2 | g.189004338G>C | CA349844608 | COL3A1 | c.2806G>C (p.Gly936Arg) c.2905G>C (p.Gly969Arg) c.2527+1302G>C (n.2527+1302G>C) | |
| 2 | g.189004338G= | CA1315403194 | COL3A1 | c.2806G= (p.Gly936=) c.2905G= (p.Gly969=) c.2527+1302G= (n.2527+1302G=) | |
| 2 | g.189004338G>T | CA349844609 | COL3A1 | c.2806G>T (p.Gly936Ter) c.2905G>T (p.Gly969Ter) c.2527+1302G>T (n.2527+1302G>T) | |
| 2 | g.189004339G>A | CA349844610 | COL3A1 | c.2807G>A (p.Gly936Glu) c.2906G>A (p.Gly969Glu) c.2527+1303G>A (n.2527+1303G>A) | ClinVar |
| 2 | g.189004339G>C | CA349844611 | COL3A1 | c.2807G>C (p.Gly936Ala) c.2906G>C (p.Gly969Ala) c.2527+1303G>C (n.2527+1303G>C) | |
| 2 | g.189004339G>T | CA349844612 | COL3A1 | c.2807G>T (p.Gly936Val) c.2906G>T (p.Gly969Val) c.2527+1303G>T (n.2527+1303G>T) | gnomAD v4 |
| 2 | g.189004340A= | CA1315403195 | COL3A1 | c.2808A= (p.Gly936=) c.2907A= (p.Gly969=) c.2527+1304A= (n.2527+1304A=) | |
| 2 | g.189004340A>C | CA430312266 | COL3A1 | c.2808A>C (p.Gly936=) c.2907A>C (p.Gly969=) c.2527+1304A>C (n.2527+1304A>C) | |
| 2 | g.189004340A>G | CA430312267 | COL3A1 | c.2808A>G (p.Gly936=) c.2907A>G (p.Gly969=) c.2527+1304A>G (n.2527+1304A>G) | |
| 2 | g.189004340A>T | CA430312269 | COL3A1 | c.2808A>T (p.Gly936=) c.2907A>T (p.Gly969=) c.2527+1304A>T (n.2527+1304A>T) | dbSNP |
| 2 | g.189004341A>C | CA349844615 | COL3A1 | c.2809A>C (p.Ser937Arg) c.2908A>C (p.Ser970Arg) c.2527+1305A>C (n.2527+1305A>C) | |
| 2 | g.189004341A>G | CA349844613 | COL3A1 | c.2809A>G (p.Ser937Gly) c.2908A>G (p.Ser970Gly) c.2527+1305A>G (n.2527+1305A>G) | |
| 2 | g.189004341A>T | CA349844614 | COL3A1 | c.2809A>T (p.Ser937Cys) c.2908A>T (p.Ser970Cys) c.2527+1305A>T (n.2527+1305A>T) | |
| 2 | g.189004342G>A | CA349844616 | COL3A1 | c.2810G>A (p.Ser937Asn) c.2909G>A (p.Ser970Asn) c.2527+1306G>A (n.2527+1306G>A) | gnomAD v4 |
| 2 | g.189004342G>C | CA349844617 | COL3A1 | c.2810G>C (p.Ser937Thr) c.2909G>C (p.Ser970Thr) c.2527+1306G>C (n.2527+1306G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004342G= | CA1315403196 | COL3A1 | c.2810G= (p.Ser937=) c.2909G= (p.Ser970=) c.2527+1306G= (n.2527+1306G=) | |
| 2 | g.189004342G>T | CA349844618 | COL3A1 | c.2810G>T (p.Ser937Ile) c.2909G>T (p.Ser970Ile) c.2527+1306G>T (n.2527+1306G>T) | gnomAD v4 |
| 2 | g.189004343C>A | CA349844619 | COL3A1 | c.2811C>A (p.Ser937Arg) c.2910C>A (p.Ser970Arg) c.2527+1307C>A (n.2527+1307C>A) | |
| 2 | g.189004343C= | CA1315403197 | COL3A1 | c.2811C= (p.Ser937=) c.2910C= (p.Ser970=) c.2527+1307C= (n.2527+1307C=) | |
| 2 | g.189004343C>G | CA349844620 | COL3A1 | c.2811C>G (p.Ser937Arg) c.2910C>G (p.Ser970Arg) c.2527+1307C>G (n.2527+1307C>G) | |
| 2 | g.189004343C>T | CA075700 | COL3A1 | c.2811C>T (p.Ser937=) c.2910C>T (p.Ser970=) c.2527+1307C>T (n.2527+1307C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189004344C>A | CA349844621 | COL3A1 | c.2812C>A (p.Pro938Thr) c.2911C>A (p.Pro971Thr) c.2527+1308C>A (n.2527+1308C>A) | gnomAD v4 |
| 2 | g.189004344C>G | CA349844622 | COL3A1 | c.2812C>G (p.Pro938Ala) c.2911C>G (p.Pro971Ala) c.2527+1308C>G (n.2527+1308C>G) | |
| 2 | g.189004344C>T | CA349844623 | COL3A1 | c.2812C>T (p.Pro938Ser) c.2911C>T (p.Pro971Ser) c.2527+1308C>T (n.2527+1308C>T) | |
| 2 | g.189004345C>A | CA349844624 | COL3A1 | c.2813C>A (p.Pro938His) c.2912C>A (p.Pro971His) c.2527+1309C>A (n.2527+1309C>A) | |
| 2 | g.189004345C>G | CA349844625 | COL3A1 | c.2813C>G (p.Pro938Arg) c.2912C>G (p.Pro971Arg) c.2527+1309C>G (n.2527+1309C>G) | |
| 2 | g.189004345C>T | CA349844626 | COL3A1 | c.2813C>T (p.Pro938Leu) c.2912C>T (p.Pro971Leu) c.2527+1309C>T (n.2527+1309C>T) | |
| 2 | g.189004346T>A | CA075704 | COL3A1 | c.2814T>A (p.Pro938=) c.2913T>A (p.Pro971=) c.2527+1310T>A (n.2527+1310T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004346T>C | CA075707 | COL3A1 | c.2814T>C (p.Pro938=) c.2913T>C (p.Pro971=) c.2527+1310T>C (n.2527+1310T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004346T>G | CA62557631 | COL3A1 | c.2814T>G (p.Pro938=) c.2913T>G (p.Pro971=) c.2527+1310T>G (n.2527+1310T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004346T= | CA1315403198 | COL3A1 | c.2814T= (p.Pro938=) c.2913T= (p.Pro971=) c.2527+1310T= (n.2527+1310T=) | |
| 2 | g.189004347G>A | CA005842 | COL3A1 | c.2815G>A (p.Gly939Ser) c.2914G>A (p.Gly972Ser) c.2527+1311G>A (n.2527+1311G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004347G>C | CA349844627 | COL3A1 | c.2815G>C (p.Gly939Arg) c.2914G>C (p.Gly972Arg) c.2527+1311G>C (n.2527+1311G>C) | |
| 2 | g.189004347G= | CA1315403199 | COL3A1 | c.2815G= (p.Gly939=) c.2914G= (p.Gly972=) c.2527+1311G= (n.2527+1311G=) | |
| 2 | g.189004347G>T | CA349844628 | COL3A1 | c.2815G>T (p.Gly939Cys) c.2914G>T (p.Gly972Cys) c.2527+1311G>T (n.2527+1311G>T) | gnomAD v4 |