Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188991716_188991731delinsGGCTGCAGTGAGTATA | CA1315396837 | COL3A1 | c.945_951+9delinsGGCTGCAGTGAGTATA c.43_49+9delinsGGCTGCAGTGAGTATA | |
2 | g.188991722_188991736del | CA285849 | COL3A1 | c.951_951+14del c.49_49+14del | ClinVar dbSNP |
2 | g.188991726_188991727del | CA913189391 | COL3A1 | c.951+4_951+5del (n.951+4_951+5del) c.49+4_49+5del | ClinVar dbSNP |
2 | g.188991727G>A | CA007651 | COL3A1 | c.951+5G>A (n.951+5G>A) c.49+5G>A | ClinVar dbSNP |
2 | g.188991727G>C | CA2586965497 | COL3A1 | c.951+5G>C (n.951+5G>C) c.49+5G>C | |
2 | g.188991727G= | CA1315396875 | COL3A1 | c.951+5G= (n.951+5G=) c.49+5G= | |
2 | g.188991727_188991728insGTTAATAA | CA1315396891 | COL3A1 | c.951+5_951+6insGTTAATAA (n.951+5_951+6insGTTAATAA) c.49+5_49+6insGTTAATAA | dbSNP |
2 | g.188991728T>A | CA007659 | COL3A1 | c.951+6T>A (n.951+6T>A) c.49+6T>A | ClinVar dbSNP |
2 | g.188991728T>C | CA007669 | COL3A1 | c.951+6T>C (n.951+6T>C) c.49+6T>C | ClinVar dbSNP |
2 | g.188991728T>G | CA1315396897 | COL3A1 | c.951+6T>G (n.951+6T>G) c.49+6T>G | dbSNP |
2 | g.188991728T= | CA1315396892 | COL3A1 | c.951+6T= (n.951+6T=) c.49+6T= | |
2 | g.188991729A= | CA1315396900 | COL3A1 | c.951+7A= (n.951+7A=) c.49+7A= | |
2 | g.188991729A>G | CA1040405522 | COL3A1 | c.951+7A>G (n.951+7A>G) c.49+7A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991730T>A | CA1315396903 | COL3A1 | c.951+8T>A (n.951+8T>A) c.49+8T>A | dbSNP |
2 | g.188991730T>C | CA077112 | COL3A1 | c.951+8T>C (n.951+8T>C) c.49+8T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991730T= | CA1315396902 | COL3A1 | c.951+8T= (n.951+8T=) c.49+8T= | |
2 | g.188991730_188991731insTCTT | CA2508953320 | COL3A1 | c.951+8_951+9insTCTT (n.951+8_951+9insTCTT) c.49+8_49+9insTCTT | |
2 | g.188991731A>T | CA2701316794 | COL3A1 | c.951+9A>T (n.951+9A>T) c.49+9A>T | dbSNP |
2 | g.188991732del | CA2559470187 | COL3A1 | c.951+10del (n.951+10del) c.49+10del | |
2 | g.188991732G>A | CA1315396908 | COL3A1 | c.951+10G>A (n.951+10G>A) c.49+10G>A | dbSNP gnomAD v4 |
2 | g.188991732G>C | CA077096 | COL3A1 | c.951+10G>C (n.951+10G>C) c.49+10G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991732G= | CA1315396907 | COL3A1 | c.951+10G= (n.951+10G=) c.49+10G= | |
2 | g.188991732G>T | CA538441149 | COL3A1 | c.951+10G>T (n.951+10G>T) c.49+10G>T | dbSNP gnomAD v2 |
2 | g.188991735G>A | CA762193186 | COL3A1 | c.951+13G>A (n.951+13G>A) c.49+13G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991735G= | CA1315396912 | COL3A1 | c.951+13G= (n.951+13G=) c.49+13G= | |
2 | g.188991735G>T | CA647380766 | COL3A1 | c.951+13G>T (n.951+13G>T) c.49+13G>T | COSMIC |
2 | g.188991737_188991739del | CA2550148692 | COL3A1 | c.951+15_951+17del (n.951+15_951+17del) c.49+15_49+17del | |
2 | g.188991739A>G | CA2662287886 | COL3A1 | c.951+17A>G (n.951+17A>G) c.49+17A>G | gnomAD v4 |
2 | g.188991740C= | CA1315396915 | COL3A1 | c.951+18C= (n.951+18C=) c.49+18C= | |
2 | g.188991740C>T | CA1315396916 | COL3A1 | c.951+18C>T (n.951+18C>T) c.49+18C>T | ClinVar dbSNP gnomAD v4 |
2 | g.188991741A= | CA1315396918 | COL3A1 | c.951+19A= (n.951+19A=) c.49+19A= | |
2 | g.188991741A>G | CA1315396919 | COL3A1 | c.951+19A>G (n.951+19A>G) c.49+19A>G | dbSNP gnomAD v4 |
2 | g.188991741A>T | CA2580065312 | COL3A1 | c.951+19A>T (n.951+19A>T) c.49+19A>T | ClinVar |
2 | g.188991742_188991743insTG | CA2532045175 | COL3A1 | c.951+20_951+21insTG (n.951+20_951+21insTG) c.49+20_49+21insTG | |
2 | g.188991743C= | CA1315396920 | COL3A1 | c.951+21C= (n.951+21C=) c.49+21C= | |
2 | g.188991743C>G | CA538441150 | COL3A1 | c.951+21C>G (n.951+21C>G) c.49+21C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991745C>A | CA2581798776 | COL3A1 | c.951+23C>A (n.951+23C>A) c.49+23C>A | |
2 | g.188991745C= | CA1315396923 | COL3A1 | c.951+23C= (n.951+23C=) c.49+23C= | |
2 | g.188991745C>G | CA2581798777 | COL3A1 | c.951+23C>G (n.951+23C>G) c.49+23C>G | |
2 | g.188991745C>T | CA077098 | COL3A1 | c.951+23C>T (n.951+23C>T) c.49+23C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991747C>A | CA1315396926 | COL3A1 | c.951+25C>A (n.951+25C>A) c.49+25C>A | dbSNP gnomAD v4 |
2 | g.188991747C= | CA1315396925 | COL3A1 | c.951+25C= (n.951+25C=) c.49+25C= | |
2 | g.188991747C>T | CA2662287887 | COL3A1 | c.951+25C>T (n.951+25C>T) c.49+25C>T | gnomAD v4 |
2 | g.188991748A>T | CA2662287888 | COL3A1 | c.951+26A>T (n.951+26A>T) c.49+26A>T | gnomAD v4 |
2 | g.188991748_188991749del | CA2523807777 | COL3A1 | c.951+26_951+27del (n.951+26_951+27del) c.49+26_49+27del | |
2 | g.188991750T>C | CA762193191 | COL3A1 | c.951+28T>C (n.951+28T>C) c.49+28T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991750T= | CA1315396928 | COL3A1 | c.951+28T= (n.951+28T=) c.49+28T= | |
2 | g.188991752A= | CA1315396931 | COL3A1 | c.951+30A= (n.951+30A=) c.49+30A= | |
2 | g.188991752A>G | CA077100 | COL3A1 | c.951+30A>G (n.951+30A>G) c.49+30A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991753del | CA2662287889 | COL3A1 | c.951+31del (n.951+31del) c.49+31del | gnomAD v4 |
2 | g.188991753C>A | CA077102 | COL3A1 | c.951+31C>A (n.951+31C>A) c.49+31C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991753C= | CA1315396934 | COL3A1 | c.951+31C= (n.951+31C=) c.49+31C= | |
2 | g.188991754A>G | CA2662287890 | COL3A1 | c.951+32A>G (n.951+32A>G) c.49+32A>G | gnomAD v4 |
2 | g.188991755A>T | CA2662287891 | COL3A1 | c.951+33A>T (n.951+33A>T) c.49+33A>T | gnomAD v4 |
2 | g.188991756C>A | CA1315396937 | COL3A1 | c.951+34C>A (n.951+34C>A) c.49+34C>A | dbSNP |
2 | g.188991756C= | CA1315396938 | COL3A1 | c.951+34C= (n.951+34C=) c.49+34C= | |
2 | g.188991756C>G | CA62593101 | COL3A1 | c.951+34C>G (n.951+34C>G) c.49+34C>G | dbSNP |
2 | g.188991757C>A | CA1315396941 | COL3A1 | c.951+35C>A (n.951+35C>A) c.49+35C>A | dbSNP |
2 | g.188991757C= | CA1315396940 | COL3A1 | c.951+35C= (n.951+35C=) c.49+35C= | |
2 | g.188991757C>T | CA2662287892 | COL3A1 | c.951+35C>T (n.951+35C>T) c.49+35C>T | gnomAD v4 |
2 | g.188991758C>A | CA2577185244 | COL3A1 | c.951+36C>A (n.951+36C>A) c.49+36C>A | gnomAD v4 |
2 | g.188991758C= | CA1315396943 | COL3A1 | c.951+36C= (n.951+36C=) c.49+36C= | |
2 | g.188991758C>T | CA077103 | COL3A1 | c.951+36C>T (n.951+36C>T) c.49+36C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991759A>C | CA2577185245 | COL3A1 | c.951+37A>C (n.951+37A>C) c.49+37A>C | |
2 | g.188991759A>G | CA2662287894 | COL3A1 | c.951+37A>G (n.951+37A>G) c.49+37A>G | gnomAD v4 |
2 | g.188991760A= | CA1315396945 | COL3A1 | c.951+38A= (n.951+38A=) c.49+38A= | |
2 | g.188991760A>G | CA077105 | COL3A1 | c.951+38A>G (n.951+38A>G) c.49+38A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991762G>A | CA077107 | COL3A1 | c.951+40G>A (n.951+40G>A) c.49+40G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991762G= | CA1315396947 | COL3A1 | c.951+40G= (n.951+40G=) c.49+40G= | |
2 | g.188991762G>T | CA1315396949 | COL3A1 | c.951+40G>T (n.951+40G>T) c.49+40G>T | dbSNP |
2 | g.188991763T>C | CA2662287896 | COL3A1 | c.951+41T>C (n.951+41T>C) c.49+41T>C | gnomAD v4 |
2 | g.188991763dup | CA2662287895 | COL3A1 | c.951+41dup (n.951+41dup) c.49+41dup | gnomAD v4 |
2 | g.188991764G>A | CA2577185246 | COL3A1 | c.951+42G>A (n.951+42G>A) c.49+42G>A | |
2 | g.188991764G>T | CA2662287897 | COL3A1 | c.951+42G>T (n.951+42G>T) c.49+42G>T | gnomAD v4 |
2 | g.188991764_188991765insT | CA2662287898 | COL3A1 | c.951+42_951+43insT (n.951+42_951+43insT) c.49+42_49+43insT | gnomAD v4 |
2 | g.188991766C= | CA1315396951 | COL3A1 | c.951+44C= (n.951+44C=) c.49+44C= | |
2 | g.188991766C>T | CA62593116 | COL3A1 | c.951+44C>T (n.951+44C>T) c.49+44C>T | dbSNP |
2 | g.188991767A>G | CA2606991754 | COL3A1 | c.951+45A>G (n.951+45A>G) c.49+45A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991768G>A | CA2577185247 | COL3A1 | c.951+46G>A (n.951+46G>A) c.49+46G>A | |
2 | g.188991768G= | CA1315396953 | COL3A1 | c.951+46G= (n.951+46G=) c.49+46G= | |
2 | g.188991768G>T | CA077109 | COL3A1 | c.951+46G>T (n.951+46G>T) c.49+46G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991769A= | CA1315396955 | COL3A1 | c.951+47A= (n.951+47A=) c.49+47A= | |
2 | g.188991769A>C | CA2662287899 | COL3A1 | c.951+47A>C (n.951+47A>C) c.49+47A>C | gnomAD v4 |
2 | g.188991769A>G | CA077110 | COL3A1 | c.951+47A>G (n.951+47A>G) c.49+47A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991770T>C | CA2577185248 | COL3A1 | c.951+48T>C (n.951+48T>C) c.49+48T>C | |
2 | g.188991774T>C | CA077111 | COL3A1 | c.951+52T>C (n.951+52T>C) c.49+52T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991774T= | CA1315396958 | COL3A1 | c.951+52T= (n.951+52T=) c.49+52T= | |
2 | g.188991776C>A | CA2577185249 | COL3A1 | c.951+54C>A (n.951+54C>A) c.49+54C>A | gnomAD v4 |
2 | g.188991777A= | CA1315396960 | COL3A1 | c.951+55A= (n.951+55A=) c.49+55A= | |
2 | g.188991777A>G | CA62593140 | COL3A1 | c.951+55A>G (n.951+55A>G) c.49+55A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991778G= | CA1315396966 | COL3A1 | c.951+56G= (n.951+56G=) c.49+56G= | |
2 | g.188991778G>T | CA762193202 | COL3A1 | c.951+56G>T (n.951+56G>T) c.49+56G>T | dbSNP gnomAD v4 |
2 | g.188991779C>A | CA2662287901 | COL3A1 | c.951+57C>A (n.951+57C>A) c.49+57C>A | gnomAD v4 |
2 | g.188991780C>A | CA2577185250 | COL3A1 | c.951+58C>A (n.951+58C>A) c.49+58C>A | |
2 | g.188991780C= | CA1315396967 | COL3A1 | c.951+58C= (n.951+58C=) c.49+58C= | |
2 | g.188991780C>T | CA1315396969 | COL3A1 | c.951+58C>T (n.951+58C>T) c.49+58C>T | dbSNP |
2 | g.188991782C= | CA1315396971 | COL3A1 | c.951+60C= (n.951+60C=) c.49+60C= | |
2 | g.188991782C>T | CA1315396970 | COL3A1 | c.951+60C>T (n.951+60C>T) c.49+60C>T | dbSNP |
2 | g.188991782_188991783del | CA2662287902 | COL3A1 | c.951+60_951+61del (n.951+60_951+61del) c.49+60_49+61del | gnomAD v4 |
2 | g.188991783A>C | CA2577185251 | COL3A1 | c.951+61A>C (n.951+61A>C) c.49+61A>C | gnomAD v4 |
2 | g.188991784G>A | CA2662287903 | COL3A1 | c.951+62G>A (n.951+62G>A) c.49+62G>A | gnomAD v4 |
2 | g.188991784G>C | CA2662287904 | COL3A1 | c.951+62G>C (n.951+62G>C) c.49+62G>C | gnomAD v4 |
2 | g.188991785del | CA2662287905 | COL3A1 | c.951+63del (n.951+63del) c.49+63del | gnomAD v4 |
2 | g.188991785T>A | CA2577185252 | COL3A1 | c.951+63T>A (n.951+63T>A) c.49+63T>A | gnomAD v4 |
2 | g.188991785T>C | CA62593146 | COL3A1 | c.951+63T>C (n.951+63T>C) c.49+63T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991785T>G | CA538441151 | COL3A1 | c.951+63T>G (n.951+63T>G) c.49+63T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991785T= | CA1315396973 | COL3A1 | c.951+63T= (n.951+63T=) c.49+63T= | |
2 | g.188991786A= | CA1315396978 | COL3A1 | c.951+64A= (n.951+64A=) c.49+64A= | |
2 | g.188991786A>T | CA1315396980 | COL3A1 | c.951+64A>T (n.951+64A>T) c.49+64A>T | dbSNP gnomAD v4 |
2 | g.188991787A= | CA1315396981 | COL3A1 | c.951+65A= (n.951+65A=) c.49+65A= | |
2 | g.188991787A>C | CA2662287907 | COL3A1 | c.951+65A>C (n.951+65A>C) c.49+65A>C | gnomAD v4 |
2 | g.188991787A>G | CA1315396982 | COL3A1 | c.951+65A>G (n.951+65A>G) c.49+65A>G | dbSNP gnomAD v4 |
2 | g.188991788A>G | CA2577185253 | COL3A1 | c.951+66A>G (n.951+66A>G) c.49+66A>G | gnomAD v4 |
2 | g.188991789G>C | CA762193219 | COL3A1 | c.951+67G>C (n.951+67G>C) c.49+67G>C | dbSNP gnomAD v4 |
2 | g.188991789G= | CA1315396984 | COL3A1 | c.951+67G= (n.951+67G=) c.49+67G= | |
2 | g.188991790T>A | CA2662287908 | COL3A1 | c.951+68T>A (n.951+68T>A) c.49+68T>A | gnomAD v4 |
2 | g.188991791T>C | CA62593149 | COL3A1 | c.951+69T>C (n.951+69T>C) c.49+69T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991791T= | CA1315396986 | COL3A1 | c.951+69T= (n.951+69T=) c.49+69T= | |
2 | g.188991792T>C | CA762193224 | COL3A1 | c.951+70T>C (n.951+70T>C) c.49+70T>C | dbSNP |
2 | g.188991792T>G | CA2662287909 | COL3A1 | c.951+70T>G (n.951+70T>G) c.49+70T>G | gnomAD v4 |
2 | g.188991792T= | CA1315396988 | COL3A1 | c.951+70T= (n.951+70T=) c.49+70T= | |
2 | g.188991792_188991793insA | CA2662287910 | COL3A1 | c.951+70_951+71insA (n.951+70_951+71insA) c.49+70_49+71insA | gnomAD v4 |
2 | g.188991793C>T | CA2662287911 | COL3A1 | c.951+71C>T (n.951+71C>T) c.49+71C>T | gnomAD v4 |
2 | g.188991793_188991794insTG | CA2662287912 | COL3A1 | c.951+71_951+72insTG (n.951+71_951+72insTG) c.49+71_49+72insTG | gnomAD v4 |
2 | g.188991794A>C | CA2662287913 | COL3A1 | c.951+72A>C (n.951+72A>C) c.49+72A>C | gnomAD v4 |
2 | g.188991794A>G | CA2577185254 | COL3A1 | c.951+72A>G (n.951+72A>G) c.49+72A>G | gnomAD v4 |
2 | g.188991795G>A | CA1315396991 | COL3A1 | c.951+73G>A (n.951+73G>A) c.49+73G>A | dbSNP gnomAD v4 |
2 | g.188991795G= | CA1315396989 | COL3A1 | c.951+73G= (n.951+73G=) c.49+73G= | |
2 | g.188991796G>T | CA2662287914 | COL3A1 | c.951+74G>T (n.951+74G>T) c.49+74G>T | gnomAD v4 |
2 | g.188991797del | CA2662287915 | COL3A1 | c.951+75del (n.951+75del) c.49+75del | gnomAD v4 |
2 | g.188991797C>A | CA2577185255 | COL3A1 | c.951+75C>A (n.951+75C>A) c.49+75C>A | gnomAD v4 |
2 | g.188991797C= | CA1315396992 | COL3A1 | c.951+75C= (n.951+75C=) c.49+75C= | |
2 | g.188991797C>T | CA1315396993 | COL3A1 | c.951+75C>T (n.951+75C>T) c.49+75C>T | dbSNP |
2 | g.188991798T>C | CA2577185256 | COL3A1 | c.951+76T>C (n.951+76T>C) c.49+76T>C | |
2 | g.188991799G>A | CA2662287916 | COL3A1 | c.951+77G>A (n.951+77G>A) c.49+77G>A | dbSNP gnomAD v4 |
2 | g.188991800T>C | CA2662287917 | COL3A1 | c.951+78T>C (n.951+78T>C) c.49+78T>C | gnomAD v4 |
2 | g.188991801A>T | CA2662287918 | COL3A1 | c.951+79A>T (n.951+79A>T) c.49+79A>T | gnomAD v4 |
2 | g.188991805dup | CA2662287919 | COL3A1 | c.951+83dup (n.951+83dup) c.49+83dup | gnomAD v4 |
2 | g.188991804A>G | CA2843499632 | COL3A1 | c.951+82A>G (n.951+82A>G) c.49+82A>G | |
2 | g.188991805A>C | CA2662287920 | COL3A1 | c.951+83A>C (n.951+83A>C) c.49+83A>C | gnomAD v4 |
2 | g.188991805A>G | CA2662287921 | COL3A1 | c.951+83A>G (n.951+83A>G) c.49+83A>G | gnomAD v4 |
2 | g.188991807A>C | CA2830535351 | COL3A1 | c.951+85A>C (n.951+85A>C) c.49+85A>C | |
2 | g.188991809G>A | CA2577185257 | COL3A1 | c.951+87G>A (n.951+87G>A) c.49+87G>A | gnomAD v4 |
2 | g.188991811T>C | CA2830535352 | COL3A1 | c.951+89T>C (n.951+89T>C) c.49+89T>C | |
2 | g.188991812A>G | CA2662287922 | COL3A1 | c.951+90A>G (n.951+90A>G) c.49+90A>G | dbSNP gnomAD v4 |
2 | g.188991813G>C | CA2662287923 | COL3A1 | c.951+91G>C (n.951+91G>C) c.49+91G>C | gnomAD v4 |
2 | g.188991814G>T | CA2662287924 | COL3A1 | c.951+92G>T (n.951+92G>T) c.49+92G>T | gnomAD v4 |
2 | g.188991815A= | CA1315396995 | COL3A1 | c.951+93A= (n.951+93A=) c.49+93A= | |
2 | g.188991815A>C | CA2662287925 | COL3A1 | c.951+93A>C (n.951+93A>C) c.49+93A>C | gnomAD v4 |
2 | g.188991815A>G | CA62593160 | COL3A1 | c.951+93A>G (n.951+93A>G) c.49+93A>G | dbSNP gnomAD v4 |
2 | g.188991819del | CA2577185258 | COL3A1 | c.951+97del (n.951+97del) c.49+97del | gnomAD v4 |
2 | g.188991816A>G | CA2577185259 | COL3A1 | c.951+94A>G (n.951+94A>G) c.49+94A>G | |
2 | g.188991816_188991817insGGTCTTTTTCCT | CA2662287926 | COL3A1 | c.951+94_951+95insGGTCTTTTTCCT (n.951+94_951+95insGGTCTTTTTCCT) c.49+94_49+95insGGTCTTTTTCCT | gnomAD v4 |
2 | g.188991819A>G | CA2662287927 | COL3A1 | c.951+97A>G (n.951+97A>G) c.49+97A>G | gnomAD v4 |
2 | g.188991820G= | CA1315396997 | COL3A1 | c.951+98G= (n.951+98G=) c.49+98G= | |
2 | g.188991820G>T | CA1315396998 | COL3A1 | c.951+98G>T (n.951+98G>T) c.49+98G>T | dbSNP gnomAD v4 |
2 | g.188991821A= | CA1315397000 | COL3A1 | c.951+99A= (n.951+99A=) c.49+99A= | |
2 | g.188991821A>G | CA762193225 | COL3A1 | c.951+99A>G (n.951+99A>G) c.49+99A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991822C>A | CA2662287928 | COL3A1 | c.951+100C>A (n.951+100C>A) c.49+100C>A | gnomAD v4 |
2 | g.188991822C= | CA1315397002 | COL3A1 | c.951+100C= (n.951+100C=) c.49+100C= | |
2 | g.188991822C>G | CA1040405548 | COL3A1 | c.951+100C>G (n.951+100C>G) c.49+100C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991823C>A | CA2662287929 | COL3A1 | c.951+101C>A (n.951+101C>A) c.49+101C>A | gnomAD v4 |
2 | g.188991823C>G | CA2662287930 | COL3A1 | c.951+101C>G (n.951+101C>G) c.49+101C>G | gnomAD v4 |
2 | g.188991825T>G | CA538441152 | COL3A1 | c.951+103T>G (n.951+103T>G) c.49+103T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991825T= | CA1315397004 | COL3A1 | c.951+103T= (n.951+103T=) c.49+103T= |