Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188994006A>G | CA2577185351 | COL3A1 | c.1051-32A>G (n.1051-32A>G) c.1150-32A>G (n.1150-32A>G) c.149-32A>G | gnomAD v4 |
2 | g.188994006A>T | CA647380834 | COL3A1 | c.1051-32A>T (n.1051-32A>T) c.1150-32A>T (n.1150-32A>T) c.149-32A>T | COSMIC COSMIC |
2 | g.188994007_188994010delinsTTAA | CA1315398317 | COL3A1 | c.1051-31_1051-28delinsTTAA (n.1051-31_1051-28delinsTTAA) c.1150-31_1150-28delinsTTAA (n.1150-31_1150-28delinsTTAA) c.149-31_149-28delinsTTAA | |
2 | g.188994008T>A | CA538441232 | COL3A1 | c.1051-30T>A (n.1051-30T>A) c.1150-30T>A (n.1150-30T>A) c.149-30T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994008T>G | CA073842 | COL3A1 | c.1051-30T>G (n.1051-30T>G) c.1150-30T>G (n.1150-30T>G) c.149-30T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994008T= | CA1315398318 | COL3A1 | c.1051-30T= (n.1051-30T=) c.1150-30T= (n.1150-30T=) c.149-30T= | |
2 | g.188994010_188994012del | CA762194618 | COL3A1 | c.1051-28_1051-26del (n.1051-28_1051-26del) c.1150-28_1150-26del (n.1150-28_1150-26del) c.149-28_149-26del | dbSNP |
2 | g.188994009A= | CA1315398319 | COL3A1 | c.1051-29A= (n.1051-29A=) c.1150-29A= (n.1150-29A=) c.149-29A= | |
2 | g.188994009A>C | CA1040406289 | COL3A1 | c.1051-29A>C (n.1051-29A>C) c.1150-29A>C (n.1150-29A>C) c.149-29A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994011T>C | CA538441233 | COL3A1 | c.1051-27T>C (n.1051-27T>C) c.1150-27T>C (n.1150-27T>C) c.149-27T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994011T= | CA1315398320 | COL3A1 | c.1051-27T= (n.1051-27T=) c.1150-27T= (n.1150-27T=) c.149-27T= | |
2 | g.188994012A>G | CA2662288824 | COL3A1 | c.1051-26A>G (n.1051-26A>G) c.1150-26A>G (n.1150-26A>G) c.149-26A>G | gnomAD v4 |
2 | g.188994013C>A | CA2662288825 | COL3A1 | c.1051-25C>A (n.1051-25C>A) c.1150-25C>A (n.1150-25C>A) c.149-25C>A | gnomAD v4 |
2 | g.188994013C>T | CA2530447378 | COL3A1 | c.1051-25C>T (n.1051-25C>T) c.1150-25C>T (n.1150-25C>T) c.149-25C>T | gnomAD v4 |
2 | g.188994014A= | CA1315398321 | COL3A1 | c.1051-24A= (n.1051-24A=) c.1150-24A= (n.1150-24A=) c.149-24A= | |
2 | g.188994014A>C | CA538441234 | COL3A1 | c.1051-24A>C (n.1051-24A>C) c.1150-24A>C (n.1150-24A>C) c.149-24A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994014A>G | CA073839 | COL3A1 | c.1051-24A>G (n.1051-24A>G) c.1150-24A>G (n.1150-24A>G) c.149-24A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994016T>C | CA073837 | COL3A1 | c.1051-22T>C (n.1051-22T>C) c.1150-22T>C (n.1150-22T>C) c.149-22T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994016T= | CA1315398322 | COL3A1 | c.1051-22T= (n.1051-22T=) c.1150-22T= (n.1150-22T=) c.149-22T= | |
2 | g.188994017A= | CA1315398323 | COL3A1 | c.1051-21A= (n.1051-21A=) c.1150-21A= (n.1150-21A=) c.149-21A= | |
2 | g.188994017A>G | CA1315398324 | COL3A1 | c.1051-21A>G (n.1051-21A>G) c.1150-21A>G (n.1150-21A>G) c.149-21A>G | dbSNP |
2 | g.188994018T>C | CA073832 | COL3A1 | c.1051-20T>C (n.1051-20T>C) c.1150-20T>C (n.1150-20T>C) c.149-20T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994018T= | CA1315398325 | COL3A1 | c.1051-20T= (n.1051-20T=) c.1150-20T= (n.1150-20T=) c.149-20T= | |
2 | g.188994019C>A | CA2662288826 | COL3A1 | c.1051-19C>A (n.1051-19C>A) c.1150-19C>A (n.1150-19C>A) c.149-19C>A | gnomAD v4 |
2 | g.188994019C= | CA1315398326 | COL3A1 | c.1051-19C= (n.1051-19C=) c.1150-19C= (n.1150-19C=) c.149-19C= | |
2 | g.188994019C>T | CA538441235 | COL3A1 | c.1051-19C>T (n.1051-19C>T) c.1150-19C>T (n.1150-19C>T) c.149-19C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994020T>C | CA430309402 | COL3A1 | c.1051-18T>C (n.1051-18T>C) c.1150-18T>C (n.1150-18T>C) c.149-18T>C | |
2 | g.188994022T>G | CA2740351962 | COL3A1 | c.1051-16T>G (n.1051-16T>G) c.1150-16T>G (n.1150-16T>G) c.149-16T>G | |
2 | g.188994027dup | CA2662288827 | COL3A1 | c.1051-11dup (n.1051-11dup) c.1150-11dup (n.1150-11dup) c.149-11dup | gnomAD v4 |
2 | g.188994027del | CA2662288828 | COL3A1 | c.1051-11del (n.1051-11del) c.1150-11del (n.1150-11del) c.149-11del | ClinVar gnomAD v4 |
2 | g.188994023T>C | CA1315398328 | COL3A1 | c.1051-15T>C (n.1051-15T>C) c.1150-15T>C (n.1150-15T>C) c.149-15T>C | dbSNP |
2 | g.188994023T= | CA1315398327 | COL3A1 | c.1051-15T= (n.1051-15T=) c.1150-15T= (n.1150-15T=) c.149-15T= | |
2 | g.188994025T>C | CA004097 | COL3A1 | c.1051-13T>C (n.1051-13T>C) c.1150-13T>C (n.1150-13T>C) c.149-13T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994025T= | CA1315398329 | COL3A1 | c.1051-13T= (n.1051-13T=) c.1150-13T= (n.1150-13T=) c.149-13T= | |
2 | g.188994028G>A | CA538441236 | COL3A1 | c.1051-10G>A (n.1051-10G>A) c.1150-10G>A (n.1150-10G>A) c.149-10G>A | dbSNP gnomAD v2 |
2 | g.188994028G= | CA1315398330 | COL3A1 | c.1051-10G= (n.1051-10G=) c.1150-10G= (n.1150-10G=) c.149-10G= | |
2 | g.188994028G>T | CA2825001061 | COL3A1 | c.1051-10G>T (n.1051-10G>T) c.1150-10G>T (n.1150-10G>T) c.149-10G>T | ClinVar |
2 | g.188994031_188994032dup | CA2739278528 | COL3A1 | c.1051-7_1051-6dup (n.1051-7_1051-6dup) c.1150-7_1150-6dup (n.1150-7_1150-6dup) c.149-7_149-6dup | ClinVar |
2 | g.188994030A= | CA1315398331 | COL3A1 | c.1051-8A= (n.1051-8A=) c.1150-8A= (n.1150-8A=) c.149-8A= | |
2 | g.188994030A>G | CA073882 | COL3A1 | c.1051-8A>G (n.1051-8A>G) c.1150-8A>G (n.1150-8A>G) c.149-8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994030A>T | CA2662288829 | COL3A1 | c.1051-8A>T (n.1051-8A>T) c.1150-8A>T (n.1150-8A>T) c.149-8A>T | gnomAD v4 |
2 | g.188994031T>C | CA1139657557 | COL3A1 | c.1051-7T>C (n.1051-7T>C) c.1150-7T>C (n.1150-7T>C) c.149-7T>C | ClinVar dbSNP |
2 | g.188994031T= | CA1315398332 | COL3A1 | c.1051-7T= (n.1051-7T=) c.1150-7T= (n.1150-7T=) c.149-7T= | |
2 | g.188994032A= | CA1315398333 | COL3A1 | c.1051-6A= (n.1051-6A=) c.1150-6A= (n.1150-6A=) c.149-6A= | |
2 | g.188994032A>G | CA073877 | COL3A1 | c.1051-6A>G (n.1051-6A>G) c.1150-6A>G (n.1150-6A>G) c.149-6A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994032_188994036delinsTG | CA2586965508 | COL3A1 | c.1051-6_1051-2delinsTG (n.1051-6_1051-2delinsTG) c.1150-6_1150-2delinsTG (n.1150-6_1150-2delinsTG) c.149-6_149-2delinsTG | |
2 | g.188994033C= | CA1315398334 | COL3A1 | c.1051-5C= (n.1051-5C=) c.1150-5C= (n.1150-5C=) c.149-5C= | |
2 | g.188994033C>G | CA2662288830 | COL3A1 | c.1051-5C>G (n.1051-5C>G) c.1150-5C>G (n.1150-5C>G) c.149-5C>G | gnomAD v4 |
2 | g.188994033C>T | CA073873 | COL3A1 | c.1051-5C>T (n.1051-5C>T) c.1150-5C>T (n.1150-5C>T) c.149-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994034T>A | CA073867 | COL3A1 | c.1051-4T>A (n.1051-4T>A) c.1150-4T>A (n.1150-4T>A) c.149-4T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994034T>C | CA1315398336 | COL3A1 | c.1051-4T>C (n.1051-4T>C) c.1150-4T>C (n.1150-4T>C) c.149-4T>C | ClinVar dbSNP |
2 | g.188994034T>G | CA073871 | COL3A1 | c.1051-4T>G (n.1051-4T>G) c.1150-4T>G (n.1150-4T>G) c.149-4T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994034T= | CA1315398335 | COL3A1 | c.1051-4T= (n.1051-4T=) c.1150-4T= (n.1150-4T=) c.149-4T= | |
2 | g.188994035T>G | CA2580065333 | COL3A1 | c.1051-3T>G (n.1051-3T>G) c.1150-3T>G (n.1150-3T>G) c.149-3T>G | ClinVar |
2 | g.188994036A>C | CA349851100 | COL3A1 | c.1051-2A>C (n.1051-2A>C) c.1150-2A>C (n.1150-2A>C) c.149-2A>C | |
2 | g.188994036A>G | CA349851101 | COL3A1 | c.1051-2A>G (n.1051-2A>G) c.1150-2A>G (n.1150-2A>G) c.149-2A>G | |
2 | g.188994036A>T | CA349851103 | COL3A1 | c.1051-2A>T (n.1051-2A>T) c.1150-2A>T (n.1150-2A>T) c.149-2A>T | |
2 | g.188994036_188994054delinsAGGGCCCTCCTGGGATTAA | CA1315398337 | COL3A1 | c.1051-2_1067delinsAGGGCCCTCCTGGGATTAA c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA c.149-2_165delinsAGGGCCCTCCTGGGATTAA | |
2 | g.188994037G>A | CA349851106 | COL3A1 | c.1051-1G>A (n.1051-1G>A) c.1150-1G>A (n.1150-1G>A) c.149-1G>A | |
2 | g.188994037G>C | CA004101 | COL3A1 | c.1051-1G>C (n.1051-1G>C) c.1150-1G>C (n.1150-1G>C) c.149-1G>C | ClinVar dbSNP |
2 | g.188994037G= | CA1315398338 | COL3A1 | c.1051-1G= (n.1051-1G=) c.1150-1G= (n.1150-1G=) c.149-1G= | |
2 | g.188994037G>T | CA349851108 | COL3A1 | c.1051-1G>T (n.1051-1G>T) c.1150-1G>T (n.1150-1G>T) c.149-1G>T | |
2 | g.188994037_188994054delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | CA286231 | COL3A1 | c.1051-1_1067delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC c.149-1_165delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | ClinVar dbSNP |
2 | g.188994038G>A | CA349851111 | COL3A1 | c.1051G>A (p.Gly351Ser) c.1150G>A (p.Gly384Ser) c.149G>A | gnomAD v4 |
2 | g.188994038G>C | CA349851112 | COL3A1 | c.1051G>C (p.Gly351Arg) c.1150G>C (p.Gly384Arg) c.149G>C | ClinVar |
2 | g.188994038G= | CA1315398339 | COL3A1 | c.1051G= (p.Gly351=) c.1150G= (p.Gly384=) c.149G= | |
2 | g.188994038G>T | CA349851115 | COL3A1 | c.1051G>T (p.Gly351Cys) c.1150G>T (p.Gly384Cys) c.149G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994039G>A | CA349851117 | COL3A1 | c.1052G>A (p.Gly351Asp) c.1151G>A (p.Gly384Asp) c.150G>A | ClinVar |
2 | g.188994039G>C | CA349851119 | COL3A1 | c.1052G>C (p.Gly351Ala) c.1151G>C (p.Gly384Ala) c.150G>C | |
2 | g.188994039G= | CA1315398340 | COL3A1 | c.1052G= (p.Gly351=) c.1151G= (p.Gly384=) c.150G= | |
2 | g.188994039G>T | CA004106 | COL3A1 | c.1052G>T (p.Gly351Val) c.1151G>T (p.Gly384Val) c.150G>T | ClinVar dbSNP |
2 | g.188994040C>A | CA430309403 | COL3A1 | c.1053C>A (p.Gly351=) c.1152C>A (p.Gly384=) c.151C>A | |
2 | g.188994040C= | CA1315398341 | COL3A1 | c.1053C= (p.Gly351=) c.1152C= (p.Gly384=) c.151C= | |
2 | g.188994040C>G | CA430309404 | COL3A1 | c.1053C>G (p.Gly351=) c.1152C>G (p.Gly384=) c.151C>G | |
2 | g.188994040C>T | CA430309405 | COL3A1 | c.1053C>T (p.Gly351=) c.1152C>T (p.Gly384=) c.151C>T | ClinVar dbSNP gnomAD v4 |
2 | g.188994041C>A | CA349851126 | COL3A1 | c.1054C>A (p.Pro352Thr) c.1153C>A (p.Pro385Thr) c.152C>A | gnomAD v4 |
2 | g.188994041C= | CA1315398342 | COL3A1 | c.1054C= (p.Pro352=) c.1153C= (p.Pro385=) c.152C= | |
2 | g.188994041C>G | CA349851122 | COL3A1 | c.1054C>G (p.Pro352Ala) c.1153C>G (p.Pro385Ala) c.152C>G | |
2 | g.188994041C>T | CA349851124 | COL3A1 | c.1054C>T (p.Pro352Ser) c.1153C>T (p.Pro385Ser) c.152C>T | dbSNP gnomAD v4 |
2 | g.188994042C>A | CA349851128 | COL3A1 | c.1055C>A (p.Pro352His) c.1154C>A (p.Pro385His) c.153C>A | |
2 | g.188994042C= | CA1315398343 | COL3A1 | c.1055C= (p.Pro352=) c.1154C= (p.Pro385=) c.153C= | |
2 | g.188994042C>G | CA349851129 | COL3A1 | c.1055C>G (p.Pro352Arg) c.1154C>G (p.Pro385Arg) c.153C>G | gnomAD v4 |
2 | g.188994042C>T | CA349851131 | COL3A1 | c.1055C>T (p.Pro352Leu) c.1154C>T (p.Pro385Leu) c.153C>T | ClinVar dbSNP |
2 | g.188994043T>A | CA430309406 | COL3A1 | c.1056T>A (p.Pro352=) c.1155T>A (p.Pro385=) c.154T>A | |
2 | g.188994043T>C | CA430309407 | COL3A1 | c.1056T>C (p.Pro352=) c.1155T>C (p.Pro385=) c.154T>C | |
2 | g.188994043T>G | CA430309408 | COL3A1 | c.1056T>G (p.Pro352=) c.1155T>G (p.Pro385=) c.154T>G | gnomAD v3 gnomAD v4 |
2 | g.188994044C>A | CA349851134 | COL3A1 | c.1057C>A (p.Pro353Thr) c.1156C>A (p.Pro386Thr) c.155C>A | |
2 | g.188994044C= | CA1315398344 | COL3A1 | c.1057C= (p.Pro353=) c.1156C= (p.Pro386=) c.155C= | |
2 | g.188994044C>G | CA349851135 | COL3A1 | c.1057C>G (p.Pro353Ala) c.1156C>G (p.Pro386Ala) c.155C>G | gnomAD v4 |
2 | g.188994044C>T | CA073885 | COL3A1 | c.1057C>T (p.Pro353Ser) c.1156C>T (p.Pro386Ser) c.155C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994045C>A | CA349851137 | COL3A1 | c.1058C>A (p.Pro353His) c.1157C>A (p.Pro386His) c.156C>A | |
2 | g.188994045C>G | CA349851138 | COL3A1 | c.1058C>G (p.Pro353Arg) c.1157C>G (p.Pro386Arg) c.156C>G | |
2 | g.188994045C>T | CA349851139 | COL3A1 | c.1058C>T (p.Pro353Leu) c.1157C>T (p.Pro386Leu) c.156C>T | gnomAD v4 |
2 | g.188994046T>A | CA430309411 | COL3A1 | c.1059T>A (p.Pro353=) c.1158T>A (p.Pro386=) c.157T>A | |
2 | g.188994046T>C | CA430309409 | COL3A1 | c.1059T>C (p.Pro353=) c.1158T>C (p.Pro386=) c.157T>C | ClinVar |
2 | g.188994046T>G | CA430309410 | COL3A1 | c.1059T>G (p.Pro353=) c.1158T>G (p.Pro386=) c.157T>G | |
2 | g.188994047G>A | CA349851141 | COL3A1 | c.1060G>A (p.Gly354Arg) c.1159G>A (p.Gly387Arg) c.158G>A | |
2 | g.188994047G>C | CA349851143 | COL3A1 | c.1060G>C (p.Gly354Arg) c.1159G>C (p.Gly387Arg) c.158G>C | |
2 | g.188994047G>T | CA349851144 | COL3A1 | c.1060G>T (p.Gly354Trp) c.1159G>T (p.Gly387Trp) c.158G>T | |
2 | g.188994048G>A | CA62595048 | COL3A1 | c.1061G>A (p.Gly354Glu) c.1160G>A (p.Gly387Glu) c.159G>A | dbSNP COSMIC COSMIC |
2 | g.188994048G>C | CA349851148 | COL3A1 | c.1061G>C (p.Gly354Ala) c.1160G>C (p.Gly387Ala) c.159G>C | |
2 | g.188994048G= | CA1315398345 | COL3A1 | c.1061G= (p.Gly354=) c.1160G= (p.Gly387=) c.159G= | |
2 | g.188994048G>T | CA349851146 | COL3A1 | c.1061G>T (p.Gly354Val) c.1160G>T (p.Gly387Val) c.159G>T | |
2 | g.188994049G>A | CA430309412 | COL3A1 | c.1062G>A (p.Gly354=) c.1161G>A (p.Gly387=) c.160G>A | ClinVar dbSNP gnomAD v4 |
2 | g.188994049G>C | CA430309413 | COL3A1 | c.1062G>C (p.Gly354=) c.1161G>C (p.Gly387=) c.160G>C | |
2 | g.188994049G>T | CA430309414 | COL3A1 | c.1062G>T (p.Gly354=) c.1161G>T (p.Gly387=) c.160G>T | |
2 | g.188994050A>C | CA349851151 | COL3A1 | c.1063A>C (p.Ile355Leu) c.1162A>C (p.Ile388Leu) c.161A>C | |
2 | g.188994050A>G | CA349851155 | COL3A1 | c.1063A>G (p.Ile355Val) c.1162A>G (p.Ile388Val) c.161A>G | |
2 | g.188994050A>T | CA349851153 | COL3A1 | c.1063A>T (p.Ile355Phe) c.1162A>T (p.Ile388Phe) c.161A>T | |
2 | g.188994051T>A | CA349851157 | COL3A1 | c.1064T>A (p.Ile355Asn) c.1163T>A (p.Ile388Asn) c.162T>A | |
2 | g.188994051T>C | CA349851158 | COL3A1 | c.1064T>C (p.Ile355Thr) c.1163T>C (p.Ile388Thr) c.162T>C | |
2 | g.188994051T>G | CA349851159 | COL3A1 | c.1064T>G (p.Ile355Ser) c.1163T>G (p.Ile388Ser) c.162T>G | |
2 | g.188994052T>A | CA430309416 | COL3A1 | c.1065T>A (p.Ile355=) c.1164T>A (p.Ile388=) c.163T>A | |
2 | g.188994052T>C | CA430309415 | COL3A1 | c.1065T>C (p.Ile355=) c.1164T>C (p.Ile388=) c.163T>C | ClinVar dbSNP |
2 | g.188994052T>G | CA349851161 | COL3A1 | c.1065T>G (p.Ile355Met) c.1164T>G (p.Ile388Met) c.163T>G | |
2 | g.188994053A= | CA1315398346 | COL3A1 | c.1066A= (p.Asn356=) c.1165A= (p.Asn389=) c.164A= | |
2 | g.188994053A>C | CA349851163 | COL3A1 | c.1066A>C (p.Asn356His) c.1165A>C (p.Asn389His) c.164A>C | |
2 | g.188994053A>G | CA349851164 | COL3A1 | c.1066A>G (p.Asn356Asp) c.1165A>G (p.Asn389Asp) c.164A>G | |
2 | g.188994053A>T | CA004110 | COL3A1 | c.1066A>T (p.Asn356Tyr) c.1165A>T (p.Asn389Tyr) c.164A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994054A= | CA1315398347 | COL3A1 | c.1067A= (p.Asn356=) c.1166A= (p.Asn389=) c.165A= | |
2 | g.188994054A>C | CA349851167 | COL3A1 | c.1067A>C (p.Asn356Thr) c.1166A>C (p.Asn389Thr) c.165A>C | |
2 | g.188994054A>G | CA349851169 | COL3A1 | c.1067A>G (p.Asn356Ser) c.1166A>G (p.Asn389Ser) c.165A>G | dbSNP |
2 | g.188994054A>T | CA349851170 | COL3A1 | c.1067A>T (p.Asn356Ile) c.1166A>T (p.Asn389Ile) c.165A>T | |
2 | g.188994055T>A | CA349851171 | COL3A1 | c.1068T>A (p.Asn356Lys) c.1167T>A (p.Asn389Lys) c.166T>A | |
2 | g.188994055T>C | CA430309417 | COL3A1 | c.1068T>C (p.Asn356=) c.1167T>C (p.Asn389=) c.166T>C | gnomAD v4 |
2 | g.188994055T>G | CA349851173 | COL3A1 | c.1068T>G (p.Asn356Lys) c.1167T>G (p.Asn389Lys) c.166T>G | gnomAD v4 |
2 | g.188994056G>A | CA349851179 | COL3A1 | c.1069G>A (p.Gly357Ser) c.1168G>A (p.Gly390Ser) c.167G>A | |
2 | g.188994056G>C | CA349851175 | COL3A1 | c.1069G>C (p.Gly357Arg) c.1168G>C (p.Gly390Arg) c.167G>C | |
2 | g.188994056G>T | CA349851177 | COL3A1 | c.1069G>T (p.Gly357Cys) c.1168G>T (p.Gly390Cys) c.167G>T | |
2 | g.188994057G>A | CA349851181 | COL3A1 | c.1070G>A (p.Gly357Asp) c.1169G>A (p.Gly390Asp) c.168G>A | |
2 | g.188994057G>C | CA349851183 | COL3A1 | c.1070G>C (p.Gly357Ala) c.1169G>C (p.Gly390Ala) c.168G>C | |
2 | g.188994057G>T | CA349851185 | COL3A1 | c.1070G>T (p.Gly357Val) c.1169G>T (p.Gly390Val) c.168G>T | |
2 | g.188994058T>A | CA430309418 | COL3A1 | c.1071T>A (p.Gly357=) c.1170T>A (p.Gly390=) c.169T>A | |
2 | g.188994058T>C | CA430309419 | COL3A1 | c.1071T>C (p.Gly357=) c.1170T>C (p.Gly390=) c.169T>C | |
2 | g.188994058T>G | CA430309420 | COL3A1 | c.1071T>G (p.Gly357=) c.1170T>G (p.Gly390=) c.169T>G | |
2 | g.188994059A>C | CA349851188 | COL3A1 | c.1072A>C (p.Ser358Arg) c.1171A>C (p.Ser391Arg) c.170A>C | |
2 | g.188994059A>G | CA349851189 | COL3A1 | c.1072A>G (p.Ser358Gly) c.1171A>G (p.Ser391Gly) c.170A>G | |
2 | g.188994059A>T | CA349851190 | COL3A1 | c.1072A>T (p.Ser358Cys) c.1171A>T (p.Ser391Cys) c.170A>T | |
2 | g.188994060G>A | CA349851193 | COL3A1 | c.1073G>A (p.Ser358Asn) c.1172G>A (p.Ser391Asn) c.171G>A | gnomAD v4 |
2 | g.188994060G>C | CA349851194 | COL3A1 | c.1073G>C (p.Ser358Thr) c.1172G>C (p.Ser391Thr) c.171G>C | |
2 | g.188994060G>T | CA349851196 | COL3A1 | c.1073G>T (p.Ser358Ile) c.1172G>T (p.Ser391Ile) c.171G>T | |
2 | g.188994060_188994061delinsGT | CA1315398348 | COL3A1 | c.1073_1074delinsGT (p.Ser358=) c.1172_1173delinsGT (p.Ser391=) c.171_172delinsGT | |
2 | g.188994061del | CA658796116 | COL3A1 | c.1074del (p.Pro359LeufsTer18) c.1173del (p.Pro392LeufsTer18) c.172del | ClinVar dbSNP |
2 | g.188994061T>A | CA349851198 | COL3A1 | c.1074T>A (p.Ser358Arg) c.1173T>A (p.Ser391Arg) c.172T>A | |
2 | g.188994061T>C | CA430309421 | COL3A1 | c.1074T>C (p.Ser358=) c.1173T>C (p.Ser391=) c.172T>C | |
2 | g.188994061T>G | CA349851199 | COL3A1 | c.1074T>G (p.Ser358Arg) c.1173T>G (p.Ser391Arg) c.172T>G | |
2 | g.188994062C>A | CA349851204 | COL3A1 | c.1075C>A (p.Pro359Thr) c.1174C>A (p.Pro392Thr) c.173C>A | |
2 | g.188994062C>G | CA349851202 | COL3A1 | c.1075C>G (p.Pro359Ala) c.1174C>G (p.Pro392Ala) c.173C>G | |
2 | g.188994062C>T | CA349851200 | COL3A1 | c.1075C>T (p.Pro359Ser) c.1174C>T (p.Pro392Ser) c.173C>T | |
2 | g.188994063C>A | CA349851206 | COL3A1 | c.1076C>A (p.Pro359His) c.1175C>A (p.Pro392His) c.174C>A | |
2 | g.188994063C>G | CA349851207 | COL3A1 | c.1076C>G (p.Pro359Arg) c.1175C>G (p.Pro392Arg) c.174C>G | |
2 | g.188994063C>T | CA349851208 | COL3A1 | c.1076C>T (p.Pro359Leu) c.1175C>T (p.Pro392Leu) c.174C>T | gnomAD v4 |
2 | g.188994064T>A | CA430309422 | COL3A1 | c.1077T>A (p.Pro359=) c.1176T>A (p.Pro392=) c.175T>A | |
2 | g.188994064T>C | CA073893 | COL3A1 | c.1077T>C (p.Pro359=) c.1176T>C (p.Pro392=) c.175T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994064T>G | CA430309423 | COL3A1 | c.1077T>G (p.Pro359=) c.1176T>G (p.Pro392=) c.175T>G | |
2 | g.188994064T= | CA1315398349 | COL3A1 | c.1077T= (p.Pro359=) c.1176T= (p.Pro392=) c.175T= | |
2 | g.188994065G>A | CA349851210 | COL3A1 | c.1078G>A (p.Gly360Ser) c.1177G>A (p.Gly393Ser) c.176G>A | gnomAD v4 |
2 | g.188994065G>C | CA349851211 | COL3A1 | c.1078G>C (p.Gly360Arg) c.1177G>C (p.Gly393Arg) c.176G>C | ClinVar dbSNP |
2 | g.188994065G>T | CA349851212 | COL3A1 | c.1078G>T (p.Gly360Cys) c.1177G>T (p.Gly393Cys) c.176G>T | gnomAD v4 |
2 | g.188994066G>A | CA349851215 | COL3A1 | c.1079G>A (p.Gly360Asp) c.1178G>A (p.Gly393Asp) c.177G>A | ClinVar dbSNP |
2 | g.188994066G>C | CA349851216 | COL3A1 | c.1079G>C (p.Gly360Ala) c.1178G>C (p.Gly393Ala) c.177G>C | gnomAD v4 |
2 | g.188994066G= | CA1315398350 | COL3A1 | c.1079G= (p.Gly360=) c.1178G= (p.Gly393=) c.177G= | |
2 | g.188994066G>T | CA349851218 | COL3A1 | c.1079G>T (p.Gly360Val) c.1178G>T (p.Gly393Val) c.177G>T | |
2 | g.188994067T>A | CA430309426 | COL3A1 | c.1080T>A (p.Gly360=) c.1179T>A (p.Gly393=) c.178T>A | |
2 | g.188994067T>C | CA430309425 | COL3A1 | c.1080T>C (p.Gly360=) c.1179T>C (p.Gly393=) c.178T>C | ClinVar |
2 | g.188994067T>G | CA430309424 | COL3A1 | c.1080T>G (p.Gly360=) c.1179T>G (p.Gly393=) c.178T>G | |
2 | g.188994068G>A | CA349851219 | COL3A1 | c.1081G>A (p.Gly361Ser) c.1180G>A (p.Gly394Ser) c.179G>A | COSMIC COSMIC |
2 | g.188994068G>C | CA349851221 | COL3A1 | c.1081G>C (p.Gly361Arg) c.1180G>C (p.Gly394Arg) c.179G>C | |
2 | g.188994068G>T | CA349851223 | COL3A1 | c.1081G>T (p.Gly361Cys) c.1180G>T (p.Gly394Cys) c.179G>T | |
2 | g.188994069G>A | CA349851228 | COL3A1 | c.1082G>A (p.Gly361Asp) c.1181G>A (p.Gly394Asp) c.180G>A | |
2 | g.188994069G>C | CA349851225 | COL3A1 | c.1082G>C (p.Gly361Ala) c.1181G>C (p.Gly394Ala) c.180G>C | COSMIC COSMIC |
2 | g.188994069G>T | CA349851227 | COL3A1 | c.1082G>T (p.Gly361Val) c.1181G>T (p.Gly394Val) c.180G>T | |
2 | g.188994070T>A | CA430309427 | COL3A1 | c.1083T>A (p.Gly361=) c.1182T>A (p.Gly394=) c.181T>A | |
2 | g.188994070T>C | CA430309428 | COL3A1 | c.1083T>C (p.Gly361=) c.1182T>C (p.Gly394=) c.181T>C | |
2 | g.188994070T>G | CA430309429 | COL3A1 | c.1083T>G (p.Gly361=) c.1182T>G (p.Gly394=) c.181T>G | |
2 | g.188994071A>C | CA349851231 | COL3A1 | c.1084A>C (p.Lys362Gln) c.1183A>C (p.Lys395Gln) c.182A>C | |
2 | g.188994071A>G | CA349851232 | COL3A1 | c.1084A>G (p.Lys362Glu) c.1183A>G (p.Lys395Glu) c.182A>G | |
2 | g.188994071A>T | CA349851233 | COL3A1 | c.1084A>T (p.Lys362Ter) c.1183A>T (p.Lys395Ter) c.182A>T | |
2 | g.188994072A>C | CA349851234 | COL3A1 | c.1085A>C (p.Lys362Thr) c.1184A>C (p.Lys395Thr) c.183A>C | |
2 | g.188994072A>G | CA349851236 | COL3A1 | c.1085A>G (p.Lys362Arg) c.1184A>G (p.Lys395Arg) c.183A>G | |
2 | g.188994072A>T | CA349851238 | COL3A1 | c.1085A>T (p.Lys362Ile) c.1184A>T (p.Lys395Ile) c.183A>T | |
2 | g.188994073A>C | CA349851240 | COL3A1 | c.1086A>C (p.Lys362Asn) c.1185A>C (p.Lys395Asn) c.184A>C | |
2 | g.188994073A>G | CA430309430 | COL3A1 | c.1086A>G (p.Lys362=) c.1185A>G (p.Lys395=) c.184A>G | |
2 | g.188994073A>T | CA349851241 | COL3A1 | c.1086A>T (p.Lys362Asn) c.1185A>T (p.Lys395Asn) c.184A>T | |
2 | g.188994074G>A | CA349851244 | COL3A1 | c.1087G>A (p.Gly363Ser) c.1186G>A (p.Gly396Ser) c.185G>A | ClinVar |
2 | g.188994074G>C | CA349851246 | COL3A1 | c.1087G>C (p.Gly363Arg) c.1186G>C (p.Gly396Arg) c.185G>C | |
2 | g.188994074G>T | CA349851247 | COL3A1 | c.1087G>T (p.Gly363Cys) c.1186G>T (p.Gly396Cys) c.185G>T | COSMIC COSMIC |
2 | g.188994074_188994103delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | CA1315398351 | COL3A1 | c.1087_1095+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA c.185_193+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | |
2 | g.188994075G>A | CA349851254 | COL3A1 | c.1088G>A (p.Gly363Asp) c.1187G>A (p.Gly396Asp) c.186G>A | ClinVar gnomAD v4 |
2 | g.188994075G>C | CA349851250 | COL3A1 | c.1088G>C (p.Gly363Ala) c.1187G>C (p.Gly396Ala) c.186G>C | |
2 | g.188994075G>T | CA349851251 | COL3A1 | c.1088G>T (p.Gly363Val) c.1187G>T (p.Gly396Val) c.186G>T | |
2 | g.188994077_188994105del | CA285858 | COL3A1 | c.1090_1095+23del c.1189_1194+23del c.188_193+23del | ClinVar dbSNP |
2 | g.188994076C>A | CA430309431 | COL3A1 | c.1089C>A (p.Gly363=) c.1188C>A (p.Gly396=) c.187C>A | dbSNP gnomAD v4 |
2 | g.188994076C= | CA1315398352 | COL3A1 | c.1089C= (p.Gly363=) c.1188C= (p.Gly396=) c.187C= | |
2 | g.188994076C>G | CA073897 | COL3A1 | c.1089C>G (p.Gly363=) c.1188C>G (p.Gly396=) c.187C>G | dbSNP ExAC gnomAD v4 |
2 | g.188994076C>T | CA073901 | COL3A1 | c.1089C>T (p.Gly363=) c.1188C>T (p.Gly396=) c.187C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994077G>A | CA073905 | COL3A1 | c.1090G>A (p.Glu364Lys) c.1189G>A (p.Glu397Lys) c.188G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994077G>C | CA349851259 | COL3A1 | c.1090G>C (p.Glu364Gln) c.1189G>C (p.Glu397Gln) c.188G>C | |
2 | g.188994077G= | CA1315398353 | COL3A1 | c.1090G= (p.Glu364=) c.1189G= (p.Glu397=) c.188G= | |
2 | g.188994077G>T | CA349851260 | COL3A1 | c.1090G>T (p.Glu364Ter) c.1189G>T (p.Glu397Ter) c.188G>T | ClinVar dbSNP COSMIC COSMIC |
2 | g.188994078A>C | CA349851263 | COL3A1 | c.1091A>C (p.Glu364Ala) c.1190A>C (p.Glu397Ala) c.189A>C | |
2 | g.188994078A>G | CA349851266 | COL3A1 | c.1091A>G (p.Glu364Gly) c.1190A>G (p.Glu397Gly) c.189A>G | |
2 | g.188994078A>T | CA349851264 | COL3A1 | c.1091A>T (p.Glu364Val) c.1190A>T (p.Glu397Val) c.189A>T | |
2 | g.188994079A>C | CA349851268 | COL3A1 | c.1092A>C (p.Glu364Asp) c.1191A>C (p.Glu397Asp) c.190A>C | |
2 | g.188994079A>G | CA430309432 | COL3A1 | c.1092A>G (p.Glu364=) c.1191A>G (p.Glu397=) c.190A>G | |
2 | g.188994079A>T | CA349851270 | COL3A1 | c.1092A>T (p.Glu364Asp) c.1191A>T (p.Glu397Asp) c.190A>T | |
2 | g.188994080A>C | CA349851272 | COL3A1 | c.1093A>C (p.Met365Leu) c.1192A>C (p.Met398Leu) c.191A>C | gnomAD v4 |
2 | g.188994080A>G | CA349851273 | COL3A1 | c.1093A>G (p.Met365Val) c.1192A>G (p.Met398Val) c.191A>G | |
2 | g.188994080A>T | CA349851275 | COL3A1 | c.1093A>T (p.Met365Leu) c.1192A>T (p.Met398Leu) c.191A>T | |
2 | g.188994081T>A | CA349851278 | COL3A1 | c.1094T>A (p.Met365Lys) c.1193T>A (p.Met398Lys) c.192T>A | |
2 | g.188994081T>C | CA349851280 | COL3A1 | c.1094T>C (p.Met365Thr) c.1193T>C (p.Met398Thr) c.192T>C | |
2 | g.188994081T>G | CA349851281 | COL3A1 | c.1094T>G (p.Met365Arg) c.1193T>G (p.Met398Arg) c.192T>G | |
2 | g.188994082G>A | CA349851282 | COL3A1 | c.1095G>A (p.Met365Ile) c.1194G>A (p.Met398Ile) c.193G>A | |
2 | g.188994082G>C | CA349851284 | COL3A1 | c.1095G>C (p.Met365Ile) c.1194G>C (p.Met398Ile) c.193G>C | |
2 | g.188994082G>T | CA349851285 | COL3A1 | c.1095G>T (p.Met365Ile) c.1194G>T (p.Met398Ile) c.193G>T | |
2 | g.188994083G>A | CA004113 | COL3A1 | c.1095+1G>A (n.1095+1G>A) c.1194+1G>A (n.1194+1G>A) c.193+1G>A | ClinVar dbSNP COSMIC |
2 | g.188994083G>C | CA004116 | COL3A1 | c.1095+1G>C (n.1095+1G>C) c.1194+1G>C (n.1194+1G>C) c.193+1G>C | ClinVar dbSNP |
2 | g.188994083G= | CA1315398354 | COL3A1 | c.1095+1G= (n.1095+1G=) c.1194+1G= (n.1194+1G=) c.193+1G= | |
2 | g.188994083G>T | CA349851287 | COL3A1 | c.1095+1G>T (n.1095+1G>T) c.1194+1G>T (n.1194+1G>T) c.193+1G>T | |
2 | g.188994084T>A | CA349851290 | COL3A1 | c.1095+2T>A (n.1095+2T>A) c.1194+2T>A (n.1194+2T>A) c.193+2T>A | |
2 | g.188994084T>C | CA349851291 | COL3A1 | c.1095+2T>C (n.1095+2T>C) c.1194+2T>C (n.1194+2T>C) c.193+2T>C | |
2 | g.188994084T>G | CA349851293 | COL3A1 | c.1095+2T>G (n.1095+2T>G) c.1194+2T>G (n.1194+2T>G) c.193+2T>G | |
2 | g.188994087G>A | CA1315398356 | COL3A1 | c.1095+5G>A (n.1095+5G>A) c.1194+5G>A (n.1194+5G>A) c.193+5G>A | dbSNP gnomAD v4 |
2 | g.188994087G>C | CA2580065335 | COL3A1 | c.1095+5G>C (n.1095+5G>C) c.1194+5G>C (n.1194+5G>C) c.193+5G>C | ClinVar dbSNP |
2 | g.188994087G= | CA1315398355 | COL3A1 | c.1095+5G= (n.1095+5G=) c.1194+5G= (n.1194+5G=) c.193+5G= | |
2 | g.188994088C>A | CA538441237 | COL3A1 | c.1095+6C>A (n.1095+6C>A) c.1194+6C>A (n.1194+6C>A) c.193+6C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994088C= | CA1315398357 | COL3A1 | c.1095+6C= (n.1095+6C=) c.1194+6C= (n.1194+6C=) c.193+6C= | |
2 | g.188994090G>C | CA538441238 | COL3A1 | c.1095+8G>C (n.1095+8G>C) c.1194+8G>C (n.1194+8G>C) c.193+8G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994090G= | CA1315398358 | COL3A1 | c.1095+8G= (n.1095+8G=) c.1194+8G= (n.1194+8G=) c.193+8G= | |
2 | g.188994091T>C | CA658657189 | COL3A1 | c.1095+9T>C (n.1095+9T>C) c.1194+9T>C (n.1194+9T>C) c.193+9T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994091T= | CA1315398359 | COL3A1 | c.1095+9T= (n.1095+9T=) c.1194+9T= (n.1194+9T=) c.193+9T= | |
2 | g.188994093C= | CA1315398360 | COL3A1 | c.1095+11C= (n.1095+11C=) c.1194+11C= (n.1194+11C=) c.193+11C= | |
2 | g.188994093C>G | CA2662288831 | COL3A1 | c.1095+11C>G (n.1095+11C>G) c.1194+11C>G (n.1194+11C>G) c.193+11C>G | gnomAD v4 |
2 | g.188994093C>T | CA073913 | COL3A1 | c.1095+11C>T (n.1095+11C>T) c.1194+11C>T (n.1194+11C>T) c.193+11C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994094C= | CA1315398361 | COL3A1 | c.1095+12C= (n.1095+12C=) c.1194+12C= (n.1194+12C=) c.193+12C= | |
2 | g.188994094C>T | CA538441239 | COL3A1 | c.1095+12C>T (n.1095+12C>T) c.1194+12C>T (n.1194+12C>T) c.193+12C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994095C>A | CA2577185352 | COL3A1 | c.1095+13C>A (n.1095+13C>A) c.1194+13C>A (n.1194+13C>A) c.193+13C>A | |
2 | g.188994096A>T | CA2662288832 | COL3A1 | c.1095+14A>T (n.1095+14A>T) c.1194+14A>T (n.1194+14A>T) c.193+14A>T | gnomAD v4 |
2 | g.188994097C= | CA1315398362 | COL3A1 | c.1095+15C= (n.1095+15C=) c.1194+15C= (n.1194+15C=) c.193+15C= | |
2 | g.188994097C>G | CA2580065337 | COL3A1 | c.1095+15C>G (n.1095+15C>G) c.1194+15C>G (n.1194+15C>G) c.193+15C>G | ClinVar |
2 | g.188994097C>T | CA538441240 | COL3A1 | c.1095+15C>T (n.1095+15C>T) c.1194+15C>T (n.1194+15C>T) c.193+15C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994098T>G | CA538441241 | COL3A1 | c.1095+16T>G (n.1095+16T>G) c.1194+16T>G (n.1194+16T>G) c.193+16T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994098T= | CA1315398363 | COL3A1 | c.1095+16T= (n.1095+16T=) c.1194+16T= (n.1194+16T=) c.193+16T= | |
2 | g.188994103A= | CA1315398364 | COL3A1 | c.1095+21A= (n.1095+21A=) c.1194+21A= (n.1194+21A=) c.193+21A= | |
2 | g.188994103A>G | CA1315398365 | COL3A1 | c.1095+21A>G (n.1095+21A>G) c.1194+21A>G (n.1194+21A>G) c.193+21A>G | dbSNP |
2 | g.188994104G>C | CA2701311888 | COL3A1 | c.1095+22G>C (n.1095+22G>C) c.1194+22G>C (n.1194+22G>C) c.193+22G>C | dbSNP |
2 | g.188994105C= | CA1315398366 | COL3A1 | c.1095+23C= (n.1095+23C=) c.1194+23C= (n.1194+23C=) c.193+23C= | |
2 | g.188994105C>T | CA538441242 | COL3A1 | c.1095+23C>T (n.1095+23C>T) c.1194+23C>T (n.1194+23C>T) c.193+23C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994106C= | CA1315398367 | COL3A1 | c.1095+24C= (n.1095+24C=) c.1194+24C= (n.1194+24C=) c.193+24C= | |
2 | g.188994106C>G | CA1315398368 | COL3A1 | c.1095+24C>G (n.1095+24C>G) c.1194+24C>G (n.1194+24C>G) c.193+24C>G | dbSNP gnomAD v4 |