2 | g.188988112C>A | CA349848261 | COL3A1 | c.560C>A (p.Thr187Lys)
| |
2 | g.188988112C= | CA1315395578 | COL3A1 | c.560C= (p.Thr187=)
| |
2 | g.188988112C>G | CA349848262 | COL3A1 | c.560C>G (p.Thr187Arg)
| |
2 | g.188988112C>T | CA006991 | COL3A1 | c.560C>T (p.Thr187Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988113A= | CA1315395579 | COL3A1 | c.561A= (p.Thr187=)
| |
2 | g.188988113A>C | CA430308922 | COL3A1 | c.561A>C (p.Thr187=)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988113A>G | CA076704 | COL3A1 | c.561A>G (p.Thr187=)
| dbSNP ExAC gnomAD v2 |
2 | g.188988113A>T | CA430308921 | COL3A1 | c.561A>T (p.Thr187=)
| |
2 | g.188988114T>A | CA349848263 | COL3A1 | c.562T>A (p.Ser188Thr)
| gnomAD v4 |
2 | g.188988114T>C | CA349848264 | COL3A1 | c.562T>C (p.Ser188Pro)
| |
2 | g.188988114T>G | CA349848265 | COL3A1 | c.562T>G (p.Ser188Ala)
| |
2 | g.188988115C>A | CA349848267 | COL3A1 | c.563C>A (p.Ser188Tyr)
| gnomAD v4 |
2 | g.188988115C>G | CA349848268 | COL3A1 | c.563C>G (p.Ser188Cys)
| |
2 | g.188988115C>T | CA349848266 | COL3A1 | c.563C>T (p.Ser188Phe)
| |
2 | g.188988116T>A | CA430308923 | COL3A1 | c.564T>A (p.Ser188=)
| |
2 | g.188988116T>C | CA430308924 | COL3A1 | c.564T>C (p.Ser188=)
| |
2 | g.188988116T>G | CA430308925 | COL3A1 | c.564T>G (p.Ser188=)
| |
2 | g.188988117G>A | CA007000 | COL3A1 | c.565G>A (p.Gly189Ser)
| ClinVar dbSNP |
2 | g.188988117G>C | CA007010 | COL3A1 | c.565G>C (p.Gly189Arg)
| ClinVar dbSNP |
2 | g.188988117G= | CA1315395580 | COL3A1 | c.565G= (p.Gly189=)
| |
2 | g.188988117G>T | CA349848269 | COL3A1 | c.565G>T (p.Gly189Cys)
| |
2 | g.188988118G>A | CA349848270 | COL3A1 | c.566G>A (p.Gly189Asp)
| |
2 | g.188988118G>C | CA349848271 | COL3A1 | c.566G>C (p.Gly189Ala)
| |
2 | g.188988118G>T | CA349848272 | COL3A1 | c.566G>T (p.Gly189Val)
| |
2 | g.188988119T>A | CA430308926 | COL3A1 | c.567T>A (p.Gly189=)
| gnomAD v4 |
2 | g.188988119T>C | CA62588250 | COL3A1 | c.567T>C (p.Gly189=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988119T>G | CA430308927 | COL3A1 | c.567T>G (p.Gly189=)
| |
2 | g.188988119T= | CA1315395581 | COL3A1 | c.567T= (p.Gly189=)
| |
2 | g.188988120C>A | CA349848273 | COL3A1 | c.568C>A (p.His190Asn)
| gnomAD v4 |
2 | g.188988120C>G | CA349848274 | COL3A1 | c.568C>G (p.His190Asp)
| |
2 | g.188988120C>T | CA349848275 | COL3A1 | c.568C>T (p.His190Tyr)
| ClinVar COSMIC |
2 | g.188988121A= | CA1315395582 | COL3A1 | c.569A= (p.His190=)
| |
2 | g.188988121A>C | CA349848276 | COL3A1 | c.569A>C (p.His190Pro)
| ClinVar |
2 | g.188988121A>G | CA076707 | COL3A1 | c.569A>G (p.His190Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988121A>T | CA349848277 | COL3A1 | c.569A>T (p.His190Leu)
| |
2 | g.188988122del | CA913187963 | COL3A1 | c.570del (p.Pro191LeufsTer?)
| ClinVar |
2 | g.188988122T>A | CA349848279 | COL3A1 | c.570T>A (p.His190Gln)
| |
2 | g.188988122T>C | CA430308928 | COL3A1 | c.570T>C (p.His190=)
| ClinVar dbSNP |
2 | g.188988122T>G | CA349848278 | COL3A1 | c.570T>G (p.His190Gln)
| |
2 | g.188988123C>A | CA349848280 | COL3A1 | c.571C>A (p.Pro191Thr)
| |
2 | g.188988123C>G | CA349848281 | COL3A1 | c.571C>G (p.Pro191Ala)
| |
2 | g.188988123C>T | CA349848282 | COL3A1 | c.571C>T (p.Pro191Ser)
| gnomAD v4 |
2 | g.188988124C>A | CA349848283 | COL3A1 | c.572C>A (p.Pro191His)
| |
2 | g.188988124C>G | CA349848284 | COL3A1 | c.572C>G (p.Pro191Arg)
| |
2 | g.188988124C>T | CA349848285 | COL3A1 | c.572C>T (p.Pro191Leu)
| |
2 | g.188988125T>A | CA430308929 | COL3A1 | c.573T>A (p.Pro191=)
| |
2 | g.188988125T>C | CA430308930 | COL3A1 | c.573T>C (p.Pro191=)
| gnomAD v4 |
2 | g.188988125T>G | CA430308931 | COL3A1 | c.573T>G (p.Pro191=)
| |
2 | g.188988126G>A | CA349848286 | COL3A1 | c.574G>A (p.Gly192Ser)
| |
2 | g.188988126G>C | CA349848287 | COL3A1 | c.574G>C (p.Gly192Arg)
| |
2 | g.188988126G= | CA1315395583 | COL3A1 | c.574G= (p.Gly192=)
| |
2 | g.188988126G>T | CA349848288 | COL3A1 | c.574G>T (p.Gly192Cys)
| dbSNP |
2 | g.188988127G>A | CA349848289 | COL3A1 | c.575G>A (p.Gly192Asp)
| |
2 | g.188988127G>C | CA349848290 | COL3A1 | c.575G>C (p.Gly192Ala)
| |
2 | g.188988127G= | CA1315395584 | COL3A1 | c.575G= (p.Gly192=)
| |
2 | g.188988127G>T | CA007020 | COL3A1 | c.575G>T (p.Gly192Val)
| ClinVar dbSNP |
2 | g.188988128T>A | CA430308932 | COL3A1 | c.576T>A (p.Gly192=)
| |
2 | g.188988128T>C | CA430308933 | COL3A1 | c.576T>C (p.Gly192=)
| ClinVar gnomAD v4 |
2 | g.188988128T>G | CA430308934 | COL3A1 | c.576T>G (p.Gly192=)
| |
2 | g.188988129T>A | CA349848293 | COL3A1 | c.577T>A (p.Ser193Thr)
| |
2 | g.188988129T>C | CA349848292 | COL3A1 | c.577T>C (p.Ser193Pro)
| |
2 | g.188988129T>G | CA349848291 | COL3A1 | c.577T>G (p.Ser193Ala)
| gnomAD v4 |
2 | g.188988130C>A | CA62588255 | COL3A1 | c.578C>A (p.Ser193Tyr)
| dbSNP |
2 | g.188988130C= | CA1315395585 | COL3A1 | c.578C= (p.Ser193=)
| |
2 | g.188988130C>G | CA349848294 | COL3A1 | c.578C>G (p.Ser193Cys)
| |
2 | g.188988130C>T | CA076708 | COL3A1 | c.578C>T (p.Ser193Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188988131C>A | CA430308935 | COL3A1 | c.579C>A (p.Ser193=)
| |
2 | g.188988131C>G | CA430308936 | COL3A1 | c.579C>G (p.Ser193=)
| |
2 | g.188988131C>T | CA430308937 | COL3A1 | c.579C>T (p.Ser193=)
| gnomAD v4 |
2 | g.188988132C>A | CA349848295 | COL3A1 | c.580C>A (p.Pro194Thr)
| |
2 | g.188988132C>G | CA349848297 | COL3A1 | c.580C>G (p.Pro194Ala)
| |
2 | g.188988132C>T | CA349848296 | COL3A1 | c.580C>T (p.Pro194Ser)
| |
2 | g.188988133C>A | CA349848298 | COL3A1 | c.581C>A (p.Pro194His)
| |
2 | g.188988133C>G | CA349848299 | COL3A1 | c.581C>G (p.Pro194Arg)
| gnomAD v4 |
2 | g.188988133C>T | CA349848300 | COL3A1 | c.581C>T (p.Pro194Leu)
| gnomAD v4 |
2 | g.188988134T>A | CA430308938 | COL3A1 | c.582T>A (p.Pro194=)
| |
2 | g.188988134T>C | CA430308940 | COL3A1 | c.582T>C (p.Pro194=)
| |
2 | g.188988134T>G | CA430308939 | COL3A1 | c.582T>G (p.Pro194=)
| |
2 | g.188988134T= | CA1315395586 | COL3A1 | c.582T= (p.Pro194=)
| |
2 | g.188988136_188988150del | CA2582342050 | COL3A1 | c.582+2_582+16del
| ClinVar |
2 | g.188988135G>A | CA349848301 | COL3A1 | c.582+1G>A (n.582+1G>A)
| |
2 | g.188988135G>C | CA007027 | COL3A1 | c.582+1G>C (n.582+1G>C)
| ClinVar dbSNP |
2 | g.188988135G= | CA1315395587 | COL3A1 | c.582+1G= (n.582+1G=)
| |
2 | g.188988135G>T | CA349848302 | COL3A1 | c.582+1G>T (n.582+1G>T)
| |
2 | g.188988138_188988141dup | CA1040403874 | COL3A1 | c.582+4_582+7dup (n.582+4_582+7dup)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988136T>A | CA349848303 | COL3A1 | c.582+2T>A (n.582+2T>A)
| |
2 | g.188988136T>C | CA349848304 | COL3A1 | c.582+2T>C (n.582+2T>C)
| ClinVar |
2 | g.188988136T>G | CA349848305 | COL3A1 | c.582+2T>G (n.582+2T>G)
| |
2 | g.188988136dup | CA007035 | COL3A1 | c.582+2dup (n.582+2dup)
| ClinVar dbSNP |
2 | g.188988136_188988137del | CA2577185096 | COL3A1 | c.582+2_582+3del (n.582+2_582+3del)
| |
2 | g.188988138_188988145delinsAGTATAGC | CA1315395588 | COL3A1 | c.582+4_582+11delinsAGTATAGC (n.582+4_582+11delinsAGTATAGC)
| |
2 | g.188988139G>A | CA007049 | COL3A1 | c.582+5G>A (n.582+5G>A)
| ClinVar dbSNP |
2 | g.188988139G= | CA1315395589 | COL3A1 | c.582+5G= (n.582+5G=)
| |
2 | g.188988139G>T | CA007056 | COL3A1 | c.582+5G>T (n.582+5G>T)
| ClinVar dbSNP |
2 | g.188988139_188988145delinsACA | CA913189389 | COL3A1 | c.582+5_582+11delinsACA (n.582+5_582+11delinsACA)
| ClinVar dbSNP |
2 | g.188988140T>A | CA007064 | COL3A1 | c.582+6T>A (n.582+6T>A)
| ClinVar dbSNP |
2 | g.188988140T>C | CA007073 | COL3A1 | c.582+6T>C (n.582+6T>C)
| ClinVar dbSNP |
2 | g.188988140T= | CA1315395590 | COL3A1 | c.582+6T= (n.582+6T=)
| |
2 | g.188988140dup | CA2662286353 | COL3A1 | c.582+6dup (n.582+6dup)
| ClinVar gnomAD v4 |
2 | g.188988141A>G | CA2662286355 | COL3A1 | c.582+7A>G (n.582+7A>G)
| dbSNP gnomAD v4 |
2 | g.188988142T>C | CA2577185097 | COL3A1 | c.582+8T>C (n.582+8T>C)
| gnomAD v4 |
2 | g.188988144G>A | CA658796113 | COL3A1 | c.582+10G>A (n.582+10G>A)
| ClinVar dbSNP |
2 | g.188988144G= | CA1315395591 | COL3A1 | c.582+10G= (n.582+10G=)
| |
2 | g.188988145C>A | CA2662286356 | COL3A1 | c.582+11C>A (n.582+11C>A)
| gnomAD v4 |
2 | g.188988145C= | CA1315395592 | COL3A1 | c.582+11C= (n.582+11C=)
| |
2 | g.188988145C>T | CA538440999 | COL3A1 | c.582+11C>T (n.582+11C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988146C= | CA1315395593 | COL3A1 | c.582+12C= (n.582+12C=)
| |
2 | g.188988146C>T | CA076711 | COL3A1 | c.582+12C>T (n.582+12C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988147A= | CA1315395594 | COL3A1 | c.582+13A= (n.582+13A=)
| |
2 | g.188988147A>G | CA62588290 | COL3A1 | c.582+13A>G (n.582+13A>G)
| dbSNP gnomAD v4 |
2 | g.188988148T>C | CA076713 | COL3A1 | c.582+14T>C (n.582+14T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988148T= | CA1315395595 | COL3A1 | c.582+14T= (n.582+14T=)
| |
2 | g.188988154_188988156del | CA2577185098 | COL3A1 | c.582+20_582+22del (n.582+20_582+22del)
| |
2 | g.188988150G>A | CA076715 | COL3A1 | c.582+16G>A (n.582+16G>A)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.188988150G= | CA1315395596 | COL3A1 | c.582+16G= (n.582+16G=)
| |
2 | g.188988152T>C | CA2577185099 | COL3A1 | c.582+18T>C (n.582+18T>C)
| |
2 | g.188988153G>A | CA2577185100 | COL3A1 | c.582+19G>A (n.582+19G>A)
| ClinVar gnomAD v4 |
2 | g.188988154G>A | CA538441000 | COL3A1 | c.582+20G>A (n.582+20G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988154G= | CA1315395597 | COL3A1 | c.582+20G= (n.582+20G=)
| |
2 | g.188988155T>C | CA2662286358 | COL3A1 | c.582+21T>C (n.582+21T>C)
| gnomAD v4 |
2 | g.188988157T>A | CA1315395598 | COL3A1 | c.582+23T>A (n.582+23T>A)
| dbSNP gnomAD v4 |
2 | g.188988157T>G | CA762251745 | COL3A1 | c.582+23T>G (n.582+23T>G)
| dbSNP |
2 | g.188988157T= | CA1315395599 | COL3A1 | c.582+23T= (n.582+23T=)
| |
2 | g.188988158T>C | CA2662286359 | COL3A1 | c.582+24T>C (n.582+24T>C)
| gnomAD v4 |
2 | g.188988159T>G | CA762251746 | COL3A1 | c.582+25T>G (n.582+25T>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988159T= | CA1315395600 | COL3A1 | c.582+25T= (n.582+25T=)
| |
2 | g.188988160T>A | CA1315395602 | COL3A1 | c.582+26T>A (n.582+26T>A)
| dbSNP gnomAD v4 |
2 | g.188988160T= | CA1315395601 | COL3A1 | c.582+26T= (n.582+26T=)
| |
2 | g.188988162T>G | CA647380657 | COL3A1 | c.582+28T>G (n.582+28T>G)
| COSMIC |
2 | g.188988163T>G | CA1315395604 | COL3A1 | c.582+29T>G (n.582+29T>G)
| dbSNP gnomAD v4 |
2 | g.188988163T= | CA1315395603 | COL3A1 | c.582+29T= (n.582+29T=)
| |
2 | g.188988164_188988165insACAA | CA2753571894 | COL3A1 | c.582+30_582+31insACAA (n.582+30_582+31insACAA)
| |
2 | g.188988165C>A | CA2662286361 | COL3A1 | c.582+31C>A (n.582+31C>A)
| gnomAD v4 |
2 | g.188988165C= | CA1315395605 | COL3A1 | c.582+31C= (n.582+31C=)
| |
2 | g.188988165C>T | CA538441001 | COL3A1 | c.582+31C>T (n.582+31C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988166T>A | CA762251750 | COL3A1 | c.582+32T>A (n.582+32T>A)
| dbSNP gnomAD v4 |
2 | g.188988166T>C | CA2662286364 | COL3A1 | c.582+32T>C (n.582+32T>C)
| gnomAD v4 |
2 | g.188988166T= | CA1315395606 | COL3A1 | c.582+32T= (n.582+32T=)
| |
2 | g.188988167C>A | CA2662286366 | COL3A1 | c.582+33C>A (n.582+33C>A)
| gnomAD v4 |
2 | g.188988167C>T | CA2662286367 | COL3A1 | c.582+33C>T (n.582+33C>T)
| gnomAD v4 |
2 | g.188988168A>G | CA2577185101 | COL3A1 | c.582+34A>G (n.582+34A>G)
| |
2 | g.188988169T>A | CA076717 | COL3A1 | c.582+35T>A (n.582+35T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988169T>G | CA1315395608 | COL3A1 | c.582+35T>G (n.582+35T>G)
| dbSNP |
2 | g.188988169T= | CA1315395607 | COL3A1 | c.582+35T= (n.582+35T=)
| |
2 | g.188988173del | CA2577185102 | COL3A1 | c.582+39del (n.582+39del)
| gnomAD v4 |
2 | g.188988172T>C | CA076719 | COL3A1 | c.582+38T>C (n.582+38T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988172T= | CA1315395609 | COL3A1 | c.582+38T= (n.582+38T=)
| |
2 | g.188988172_188988173insACA | CA2753571895 | COL3A1 | c.582+38_582+39insACA (n.582+38_582+39insACA)
| |
2 | g.188988175G>A | CA2662286369 | COL3A1 | c.582+41G>A (n.582+41G>A)
| gnomAD v4 |
2 | g.188988176A>G | CA2577185103 | COL3A1 | c.582+42A>G (n.582+42A>G)
| gnomAD v4 |
2 | g.188988177A= | CA1315395610 | COL3A1 | c.582+43A= (n.582+43A=)
| |
2 | g.188988177A>T | CA538441002 | COL3A1 | c.582+43A>T (n.582+43A>T)
| dbSNP gnomAD v2 |
2 | g.188988178A>G | CA2662286370 | COL3A1 | c.582+44A>G (n.582+44A>G)
| gnomAD v4 |
2 | g.188988181T>C | CA2662286371 | COL3A1 | c.582+47T>C (n.582+47T>C)
| gnomAD v4 |
2 | g.188988182C>A | CA2662286372 | COL3A1 | c.582+48C>A (n.582+48C>A)
| gnomAD v4 |
2 | g.188988183A>G | CA2753571896 | COL3A1 | c.582+49A>G (n.582+49A>G)
| |
2 | g.188988186T>A | CA1315395612 | COL3A1 | c.582+52T>A (n.582+52T>A)
| dbSNP |
2 | g.188988186T= | CA1315395611 | COL3A1 | c.582+52T= (n.582+52T=)
| |
2 | g.188988187T>A | CA2577185104 | COL3A1 | c.582+53T>A (n.582+53T>A)
| gnomAD v4 |
2 | g.188988187T>C | CA1040403899 | COL3A1 | c.582+53T>C (n.582+53T>C)
| gnomAD v3 gnomAD v4 |
2 | g.188988189A= | CA1315395613 | COL3A1 | c.582+55A= (n.582+55A=)
| |
2 | g.188988189A>T | CA1315395614 | COL3A1 | c.582+55A>T (n.582+55A>T)
| dbSNP gnomAD v4 |
2 | g.188988189_188990680delinsTATGCAAAATCAAAC | CA913190219 | COL3A1 | c.582+55_798+320delinsTATGCAAAATCAAAC
| ClinVar |
2 | g.188988190T>A | CA2577185105 | COL3A1 | c.582+56T>A (n.582+56T>A)
| |
2 | g.188988191A= | CA1315395615 | COL3A1 | c.582+57A= (n.582+57A=)
| |
2 | g.188988191A>C | CA538441003 | COL3A1 | c.582+57A>C (n.582+57A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988191A>G | CA762251758 | COL3A1 | c.582+57A>G (n.582+57A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988193A= | CA1315395616 | COL3A1 | c.582+59A= (n.582+59A=)
| |
2 | g.188988193A>G | CA762251781 | COL3A1 | c.582+59A>G (n.582+59A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988193A>T | CA2662286373 | COL3A1 | c.582+59A>T (n.582+59A>T)
| gnomAD v4 |
2 | g.188988194T>C | CA2550516181 | COL3A1 | c.582+60T>C (n.582+60T>C)
| |
2 | g.188988195A= | CA1315395617 | COL3A1 | c.582+61A= (n.582+61A=)
| |
2 | g.188988195A>C | CA1315395618 | COL3A1 | c.582+61A>C (n.582+61A>C)
| dbSNP gnomAD v4 |
2 | g.188988196T>C | CA2577185106 | COL3A1 | c.582+62T>C (n.582+62T>C)
| |
2 | g.188988197T>A | CA2662286374 | COL3A1 | c.582+63T>A (n.582+63T>A)
| gnomAD v4 |
2 | g.188988197T>C | CA2662286376 | COL3A1 | c.582+63T>C (n.582+63T>C)
| gnomAD v4 |
2 | g.188988197T>G | CA2662286375 | COL3A1 | c.582+63T>G (n.582+63T>G)
| gnomAD v4 |
2 | g.188988198C>A | CA2662286377 | COL3A1 | c.582+64C>A (n.582+64C>A)
| gnomAD v4 |
2 | g.188988198C= | CA1315395619 | COL3A1 | c.582+64C= (n.582+64C=)
| |
2 | g.188988198C>T | CA1040403902 | COL3A1 | c.582+64C>T (n.582+64C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988200G>A | CA2662286378 | COL3A1 | c.582+66G>A (n.582+66G>A)
| gnomAD v4 |
2 | g.188988201C>A | CA2577185107 | COL3A1 | c.582+67C>A (n.582+67C>A)
| gnomAD v4 |
2 | g.188988201C>T | CA2662286379 | COL3A1 | c.582+67C>T (n.582+67C>T)
| gnomAD v4 |
2 | g.188988202T>C | CA1315395621 | COL3A1 | c.582+68T>C (n.582+68T>C)
| dbSNP |
2 | g.188988202T= | CA1315395620 | COL3A1 | c.582+68T= (n.582+68T=)
| |
2 | g.188988203A>G | CA2662286380 | COL3A1 | c.582+69A>G (n.582+69A>G)
| gnomAD v4 |
2 | g.188988204T>A | CA2577185108 | COL3A1 | c.582+70T>A (n.582+70T>A)
| |
2 | g.188988204T>C | CA2753571897 | COL3A1 | c.582+70T>C (n.582+70T>C)
| |
2 | g.188988207T>C | CA62588321 | COL3A1 | c.582+73T>C (n.582+73T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988207T>G | CA2662286381 | COL3A1 | c.582+73T>G (n.582+73T>G)
| gnomAD v4 |
2 | g.188988207T= | CA1315395622 | COL3A1 | c.582+73T= (n.582+73T=)
| |
2 | g.188988208T>C | CA2577185109 | COL3A1 | c.582+74T>C (n.582+74T>C)
| |
2 | g.188988209C>A | CA2577185110 | COL3A1 | c.582+75C>A (n.582+75C>A)
| gnomAD v4 |
2 | g.188988211G>T | CA2662286382 | COL3A1 | c.582+77G>T (n.582+77G>T)
| gnomAD v4 |
2 | g.188988212C>A | CA2577185111 | COL3A1 | c.582+78C>A (n.582+78C>A)
| gnomAD v4 |
2 | g.188988212C= | CA1315395623 | COL3A1 | c.582+78C= (n.582+78C=)
| |
2 | g.188988212C>T | CA1040403903 | COL3A1 | c.582+78C>T (n.582+78C>T)
| dbSNP gnomAD v3 gnomAD v4 |