Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188988189_188990680delinsTATGCAAAATCAAAC | CA913190219 | COL3A1 | c.582+55_798+320delinsTATGCAAAATCAAAC | ClinVar |
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188989491C>A | CA2662286849 | COL3A1 | c.690+42C>A (n.690+42C>A) | gnomAD v4 |
2 | g.188989491C= | CA1315396229 | COL3A1 | c.690+42C= (n.690+42C=) | |
2 | g.188989491C>G | CA538441069 | COL3A1 | c.690+42C>G (n.690+42C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989491C>T | CA2662286850 | COL3A1 | c.690+42C>T (n.690+42C>T) | gnomAD v4 |
2 | g.188989492T>C | CA2662286851 | COL3A1 | c.690+43T>C (n.690+43T>C) | gnomAD v4 |
2 | g.188989492T>G | CA538441070 | COL3A1 | c.690+43T>G (n.690+43T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989492T= | CA1315396230 | COL3A1 | c.690+43T= (n.690+43T=) | |
2 | g.188989494G>A | CA1040404533 | COL3A1 | c.690+45G>A (n.690+45G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989494G>C | CA2662286852 | COL3A1 | c.690+45G>C (n.690+45G>C) | gnomAD v4 |
2 | g.188989494G= | CA1315396231 | COL3A1 | c.690+45G= (n.690+45G=) | |
2 | g.188989494G>T | CA2662286853 | COL3A1 | c.690+45G>T (n.690+45G>T) | gnomAD v4 |
2 | g.188989495G>A | CA2662286854 | COL3A1 | c.690+46G>A (n.690+46G>A) | gnomAD v4 |
2 | g.188989495G= | CA1315396232 | COL3A1 | c.690+46G= (n.690+46G=) | |
2 | g.188989495G>T | CA1040404538 | COL3A1 | c.690+46G>T (n.690+46G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989496T>C | CA2539374236 | COL3A1 | c.690+47T>C (n.690+47T>C) | gnomAD v4 |
2 | g.188989497G>A | CA2662286855 | COL3A1 | c.690+48G>A (n.690+48G>A) | gnomAD v4 |
2 | g.188989498T>A | CA2662286856 | COL3A1 | c.690+49T>A (n.690+49T>A) | gnomAD v4 |
2 | g.188989498T>G | CA076788 | COL3A1 | c.690+49T>G (n.690+49T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989498T= | CA1315396233 | COL3A1 | c.690+49T= (n.690+49T=) | |
2 | g.188989499A= | CA1315396234 | COL3A1 | c.690+50A= (n.690+50A=) | |
2 | g.188989499A>G | CA762191876 | COL3A1 | c.690+50A>G (n.690+50A>G) | dbSNP |
2 | g.188989500T>C | CA2577185162 | COL3A1 | c.690+51T>C (n.690+51T>C) | |
2 | g.188989502C>A | CA2662286857 | COL3A1 | c.690+53C>A (n.690+53C>A) | gnomAD v4 |
2 | g.188989502C>G | CA2662286858 | COL3A1 | c.690+53C>G (n.690+53C>G) | gnomAD v4 |
2 | g.188989503T>A | CA2577185163 | COL3A1 | c.690+54T>A (n.690+54T>A) | |
2 | g.188989504A= | CA1315396235 | COL3A1 | c.690+55A= (n.690+55A=) | |
2 | g.188989504A>G | CA1315396236 | COL3A1 | c.690+55A>G (n.690+55A>G) | dbSNP gnomAD v4 |
2 | g.188989506A= | CA1315396237 | COL3A1 | c.690+57A= (n.690+57A=) | |
2 | g.188989506A>G | CA62589664 | COL3A1 | c.690+57A>G (n.690+57A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989507C>A | CA2662286860 | COL3A1 | c.690+58C>A (n.690+58C>A) | gnomAD v4 |
2 | g.188989507C= | CA1315396238 | COL3A1 | c.690+58C= (n.690+58C=) | |
2 | g.188989507C>T | CA62589695 | COL3A1 | c.690+58C>T (n.690+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989507dup | CA2662286859 | COL3A1 | c.690+58dup (n.690+58dup) | gnomAD v4 |
2 | g.188989508A>T | CA2662286861 | COL3A1 | c.690+59A>T (n.690+59A>T) | gnomAD v4 |
2 | g.188989509G>A | CA62589702 | COL3A1 | c.690+60G>A (n.690+60G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989509G= | CA1315396239 | COL3A1 | c.690+60G= (n.690+60G=) | |
2 | g.188989509G>T | CA1315396240 | COL3A1 | c.690+60G>T (n.690+60G>T) | dbSNP gnomAD v4 |
2 | g.188989510T>A | CA2662286863 | COL3A1 | c.690+61T>A (n.690+61T>A) | gnomAD v4 |
2 | g.188989510T>C | CA2662286865 | COL3A1 | c.690+61T>C (n.690+61T>C) | gnomAD v4 |
2 | g.188989511A= | CA1315396241 | COL3A1 | c.690+62A= (n.690+62A=) | |
2 | g.188989511A>T | CA62589708 | COL3A1 | c.690+62A>T (n.690+62A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989512T>C | CA2662286866 | COL3A1 | c.690+63T>C (n.690+63T>C) | gnomAD v4 |
2 | g.188989513A>G | CA2662286867 | COL3A1 | c.690+64A>G (n.690+64A>G) | gnomAD v4 |
2 | g.188989516C>A | CA2662286869 | COL3A1 | c.690+67C>A (n.690+67C>A) | gnomAD v4 |
2 | g.188989516C>G | CA2662286870 | COL3A1 | c.690+67C>G (n.690+67C>G) | gnomAD v4 |
2 | g.188989517T>C | CA2560872561 | COL3A1 | c.690+68T>C (n.690+68T>C) | |
2 | g.188989517_188989519del | CA2662286872 | COL3A1 | c.690+68_690+70del (n.690+68_690+70del) | gnomAD v4 |
2 | g.188989519del | CA2577185164 | COL3A1 | c.690+70del (n.690+70del) | |
2 | g.188989518_188989519del | CA2662286871 | COL3A1 | c.690+69_690+70del (n.690+69_690+70del) | gnomAD v4 |
2 | g.188989518T>A | CA2662286873 | COL3A1 | c.690+69T>A (n.690+69T>A) | gnomAD v4 |
2 | g.188989518T>C | CA2662286874 | COL3A1 | c.690+69T>C (n.690+69T>C) | gnomAD v4 |
2 | g.188989519T>C | CA2662286875 | COL3A1 | c.690+70T>C (n.690+70T>C) | gnomAD v4 |
2 | g.188989520A>C | CA2662286877 | COL3A1 | c.690+71A>C (n.690+71A>C) | gnomAD v4 |
2 | g.188989521T>C | CA762191879 | COL3A1 | c.690+72T>C (n.690+72T>C) | dbSNP gnomAD v4 |
2 | g.188989521T= | CA1315396242 | COL3A1 | c.690+72T= (n.690+72T=) | |
2 | g.188989525_188989568del | CA2662286878 | COL3A1 | c.690+76_690+119del (n.690+76_690+119del) | gnomAD v4 |
2 | g.188989522G>A | CA2662286880 | COL3A1 | c.690+73G>A (n.690+73G>A) | gnomAD v4 |
2 | g.188989522G>C | CA62589711 | COL3A1 | c.690+73G>C (n.690+73G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989522G= | CA1315396243 | COL3A1 | c.690+73G= (n.690+73G=) | |
2 | g.188989523T>A | CA2577185165 | COL3A1 | c.690+74T>A (n.690+74T>A) | gnomAD v4 |
2 | g.188989524C>A | CA2662286881 | COL3A1 | c.690+75C>A (n.690+75C>A) | gnomAD v4 |
2 | g.188989525A>G | CA2662286883 | COL3A1 | c.690+76A>G (n.690+76A>G) | gnomAD v4 |
2 | g.188989526G>A | CA2662286886 | COL3A1 | c.690+77G>A (n.690+77G>A) | gnomAD v4 |
2 | g.188989526G>T | CA2662286884 | COL3A1 | c.690+77G>T (n.690+77G>T) | gnomAD v4 |
2 | g.188989529T>A | CA2662286887 | COL3A1 | c.690+80T>A (n.690+80T>A) | gnomAD v4 |
2 | g.188989529T>C | CA2662286889 | COL3A1 | c.690+80T>C (n.690+80T>C) | gnomAD v4 |
2 | g.188989529_188989532del | CA2662286888 | COL3A1 | c.690+80_690+83del (n.690+80_690+83del) | gnomAD v4 |
2 | g.188989529_188989534del | CA2753571972 | COL3A1 | c.690+80_690+85del (n.690+80_690+85del) | |
2 | g.188989530C>A | CA2577185167 | COL3A1 | c.690+81C>A (n.690+81C>A) | gnomAD v4 |
2 | g.188989530C= | CA1315396244 | COL3A1 | c.690+81C= (n.690+81C=) | |
2 | g.188989530C>T | CA762191883 | COL3A1 | c.690+81C>T (n.690+81C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989532del | CA2577185166 | COL3A1 | c.690+83del (n.690+83del) | |
2 | g.188989531_188989532del | CA2662286890 | COL3A1 | c.690+82_690+83del (n.690+82_690+83del) | gnomAD v4 |
2 | g.188989531C>A | CA538441071 | COL3A1 | c.690+82C>A (n.690+82C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188989531C= | CA1315396245 | COL3A1 | c.690+82C= (n.690+82C=) | |
2 | g.188989531C>T | CA2662286892 | COL3A1 | c.690+82C>T (n.690+82C>T) | gnomAD v4 |
2 | g.188989532C>A | CA538441072 | COL3A1 | c.690+83C>A (n.690+83C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989532C= | CA1315396246 | COL3A1 | c.690+83C= (n.690+83C=) | |
2 | g.188989532_188989537del | CA2753571973 | COL3A1 | c.690+83_690+88del (n.690+83_690+88del) | |
2 | g.188989533A>G | CA2662286894 | COL3A1 | c.690+84A>G (n.690+84A>G) | gnomAD v4 |
2 | g.188989533dup | CA2662286893 | COL3A1 | c.690+84dup (n.690+84dup) | gnomAD v4 |
2 | g.188989534G>A | CA538441073 | COL3A1 | c.690+85G>A (n.690+85G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989534G= | CA1315396247 | COL3A1 | c.690+85G= (n.690+85G=) | |
2 | g.188989536A>G | CA2544734343 | COL3A1 | c.690+87A>G (n.690+87A>G) | |
2 | g.188989537G>A | CA1040404552 | COL3A1 | c.690+88G>A (n.690+88G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989537G= | CA1315396249 | COL3A1 | c.690+88G= (n.690+88G=) | |
2 | g.188989537_188989538delinsGA | CA1315396248 | COL3A1 | c.690+88_690+89delinsGA (n.690+88_690+89delinsGA) | |
2 | g.188989538A>G | CA2662286899 | COL3A1 | c.690+89A>G (n.690+89A>G) | gnomAD v4 |
2 | g.188989546_188989547insAAAAAAAAAAA | CA2753571976 | COL3A1 | c.690+97_690+98insAAAAAAAAAAA (n.690+97_690+98insAAAAAAAAAAA) | |
2 | g.188989546dup | CA62589713 | COL3A1 | c.690+97dup (n.690+97dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989545_188989546dup | CA2662286901 | COL3A1 | c.690+96_690+97dup (n.690+96_690+97dup) | gnomAD v4 |
2 | g.188989544_188989546dup | CA2662286900 | COL3A1 | c.690+95_690+97dup (n.690+95_690+97dup) | gnomAD v4 |
2 | g.188989546del | CA62589719 | COL3A1 | c.690+97del (n.690+97del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989545_188989546del | CA2662286898 | COL3A1 | c.690+96_690+97del (n.690+96_690+97del) | gnomAD v4 |
2 | g.188989541A>T | CA2662286904 | COL3A1 | c.690+92A>T (n.690+92A>T) | gnomAD v4 |
2 | g.188989543A>G | CA2662286906 | COL3A1 | c.690+94A>G (n.690+94A>G) | gnomAD v4 |
2 | g.188989544A>G | CA2662286907 | COL3A1 | c.690+95A>G (n.690+95A>G) | gnomAD v4 |
2 | g.188989546_188989547insCCAAACACACCCAACACA | CA2753571977 | COL3A1 | c.690+97_690+98insCCAAACACACCCAACACA (n.690+97_690+98insCCAAACACACCCAACACA) | |
2 | g.188989546_188989547delinsAT | CA1315396250 | COL3A1 | c.690+97_690+98delinsAT (n.690+97_690+98delinsAT) | |
2 | g.188989547del | CA762191891 | COL3A1 | c.690+98del (n.690+98del) | dbSNP gnomAD v4 |
2 | g.188989547T>A | CA762191894 | COL3A1 | c.690+98T>A (n.690+98T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989547T>C | CA538441074 | COL3A1 | c.690+98T>C (n.690+98T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989547T= | CA1315396251 | COL3A1 | c.690+98T= (n.690+98T=) | |
2 | g.188989548G>A | CA62589723 | COL3A1 | c.690+99G>A (n.690+99G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989548G= | CA1315396252 | COL3A1 | c.690+99G= (n.690+99G=) | |
2 | g.188989549T>G | CA2662286910 | COL3A1 | c.690+100T>G (n.690+100T>G) | gnomAD v4 |
2 | g.188989550T>C | CA1315396254 | COL3A1 | c.690+101T>C (n.690+101T>C) | dbSNP gnomAD v4 |
2 | g.188989550T= | CA1315396253 | COL3A1 | c.690+101T= (n.690+101T=) | |
2 | g.188989551del | CA2662286913 | COL3A1 | c.690+102del (n.690+102del) | gnomAD v4 |
2 | g.188989551A>G | CA2662286914 | COL3A1 | c.690+102A>G (n.690+102A>G) | gnomAD v4 |
2 | g.188989552T>C | CA1315396256 | COL3A1 | c.690+103T>C (n.690+103T>C) | dbSNP gnomAD v4 |
2 | g.188989552T= | CA1315396255 | COL3A1 | c.690+103T= (n.690+103T=) | |
2 | g.188989554C>A | CA2662286916 | COL3A1 | c.690+105C>A (n.690+105C>A) | gnomAD v4 |
2 | g.188989554C= | CA1315396258 | COL3A1 | c.690+105C= (n.690+105C=) | |
2 | g.188989554C>T | CA1315396257 | COL3A1 | c.690+105C>T (n.690+105C>T) | dbSNP gnomAD v4 |
2 | g.188989556A>G | CA2662286918 | COL3A1 | c.690+107A>G (n.690+107A>G) | gnomAD v4 |
2 | g.188989560_188989563delinsATTG | CA1315396259 | COL3A1 | c.690+111_690+114delinsATTG (n.690+111_690+114delinsATTG) | |
2 | g.188989565_188989567del | CA538441075 | COL3A1 | c.690+116_690+118del (n.690+116_690+118del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989562T>A | CA2662286920 | COL3A1 | c.690+113T>A (n.690+113T>A) | gnomAD v4 |
2 | g.188989563G>A | CA762191900 | COL3A1 | c.690+114G>A (n.690+114G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989563G= | CA1315396260 | COL3A1 | c.690+114G= (n.690+114G=) | |
2 | g.188989563G>T | CA2662286921 | COL3A1 | c.690+114G>T (n.690+114G>T) | gnomAD v4 |
2 | g.188989564T>C | CA62589739 | COL3A1 | c.690+115T>C (n.690+115T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989564T= | CA1315396261 | COL3A1 | c.690+115T= (n.690+115T=) | |
2 | g.188989565del | CA2662286922 | COL3A1 | c.690+116del (n.690+116del) | gnomAD v4 |
2 | g.188989565T>C | CA2662286923 | COL3A1 | c.690+116T>C (n.690+116T>C) | gnomAD v4 |
2 | g.188989566G>A | CA2662286924 | COL3A1 | c.690+117G>A (n.690+117G>A) | gnomAD v4 |
2 | g.188989566G>C | CA2662286926 | COL3A1 | c.690+117G>C (n.690+117G>C) | gnomAD v4 |
2 | g.188989566G= | CA1315396262 | COL3A1 | c.690+117G= (n.690+117G=) | |
2 | g.188989566G>T | CA1040404566 | COL3A1 | c.690+117G>T (n.690+117G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989567T>A | CA2753571978 | COL3A1 | c.690+118T>A (n.690+118T>A) | |
2 | g.188989567T>C | CA2606991696 | COL3A1 | c.690+118T>C (n.690+118T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989569T>C | CA2517424193 | COL3A1 | c.690+120T>C (n.690+120T>C) | |
2 | g.188989570T>A | CA2662286927 | COL3A1 | c.690+121T>A (n.690+121T>A) | gnomAD v4 |
2 | g.188989570_188989573delinsTAAC | CA1315396263 | COL3A1 | c.690+121_690+124delinsTAAC (n.690+121_690+124delinsTAAC) | |
2 | g.188989575_188989577del | CA62589743 | COL3A1 | c.690+126_690+128del (n.690+126_690+128del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989573C>A | CA2662286929 | COL3A1 | c.690+124C>A (n.690+124C>A) | gnomAD v4 |
2 | g.188989574A>G | CA2662286930 | COL3A1 | c.690+125A>G (n.690+125A>G) | gnomAD v4 |
2 | g.188989575A>G | CA2662286931 | COL3A1 | c.690+126A>G (n.690+126A>G) | gnomAD v4 |
2 | g.188989576C>A | CA2662286933 | COL3A1 | c.690+127C>A (n.690+127C>A) | gnomAD v4 |
2 | g.188989576C= | CA1315396265 | COL3A1 | c.690+127C= (n.690+127C=) | |
2 | g.188989576C>T | CA1315396264 | COL3A1 | c.690+127C>T (n.690+127C>T) | dbSNP |
2 | g.188989577A= | CA1315396266 | COL3A1 | c.690+128A= (n.690+128A=) | |
2 | g.188989577A>G | CA62589753 | COL3A1 | c.690+128A>G (n.690+128A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989578_188989581del | CA2662286934 | COL3A1 | c.690+129_690+132del (n.690+129_690+132del) | gnomAD v4 |
2 | g.188989581T>C | CA1040404574 | COL3A1 | c.690+132T>C (n.690+132T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989581T= | CA1315396267 | COL3A1 | c.690+132T= (n.690+132T=) | |
2 | g.188989583_188989584del | CA2662286935 | COL3A1 | c.690+134_690+135del (n.690+134_690+135del) | gnomAD v4 |
2 | g.188989584T>C | CA2662286936 | COL3A1 | c.690+135T>C (n.690+135T>C) | gnomAD v4 |
2 | g.188989585T>A | CA2662286937 | COL3A1 | c.690+136T>A (n.690+136T>A) | gnomAD v4 |
2 | g.188989588T>C | CA1040404584 | COL3A1 | c.690+139T>C (n.690+139T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989588T= | CA1315396268 | COL3A1 | c.690+139T= (n.690+139T=) | |
2 | g.188989590C>T | CA2557494943 | COL3A1 | c.690+141C>T (n.690+141C>T) | |
2 | g.188989591T>A | CA762191903 | COL3A1 | c.690+142T>A (n.690+142T>A) | dbSNP |
2 | g.188989591T= | CA1315396269 | COL3A1 | c.690+142T= (n.690+142T=) |