| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50195599_50196327dup | CA2580094130 | COL1A1 | c.957+2_1138dup c.957+2_957+730dup c.957+2_958-106dup | ClinVar dbSNP |
| 17 | g.50195936_50195937dup | CA1139665708 | COL1A1 | c.1042_1043dup (p.Val349LeufsTer?) c.957+377_957+378dup (n.957+377_957+378dup) | ClinVar dbSNP |
| 17 | g.50195937C>A | CA400220997 | COL1A1 | c.1042G>T (p.Ala348Ser) c.957+377G>T (n.957+377G>T) | gnomAD v4 |
| 17 | g.50195937C= | CA2263918991 | COL1A1 | c.1042G= (p.Ala348=) c.957+377G= (n.957+377G=) | |
| 17 | g.50195937C>G | CA400220998 | COL1A1 | c.1042G>C (p.Ala348Pro) c.957+377G>C (n.957+377G>C) | |
| 17 | g.50195937C>T | CA260267 | COL1A1 | c.1042G>A (p.Ala348Thr) c.957+377G>A (n.957+377G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50195938A>C | CA500851141 | COL1A1 | c.1041T>G (p.Gly347=) c.957+376T>G (n.957+376T>G) | |
| 17 | g.50195938A>G | CA500851142 | COL1A1 | c.1041T>C (p.Gly347=) c.957+376T>C (n.957+376T>C) | |
| 17 | g.50195938A>T | CA500851143 | COL1A1 | c.1041T>A (p.Gly347=) c.957+376T>A (n.957+376T>A) | |
| 17 | g.50195939C>A | CA400220999 | COL1A1 | c.1040G>T (p.Gly347Val) c.957+375G>T (n.957+375G>T) | gnomAD v4 |
| 17 | g.50195939C>G | CA400221000 | COL1A1 | c.1040G>C (p.Gly347Ala) c.957+375G>C (n.957+375G>C) | |
| 17 | g.50195939C>T | CA400221001 | COL1A1 | c.1040G>A (p.Gly347Asp) c.957+375G>A (n.957+375G>A) | |
| 17 | g.50195940del | CA2638676188 | COL1A1 | c.1040del (p.Gly347ValfsTer?) c.957+375del (n.957+375del) | gnomAD v4 |
| 17 | g.50195940C>A | CA400221002 | COL1A1 | c.1039G>T (p.Gly347Cys) c.957+374G>T (n.957+374G>T) | gnomAD v4 |
| 17 | g.50195940C>G | CA400221003 | COL1A1 | c.1039G>C (p.Gly347Arg) c.957+374G>C (n.957+374G>C) | gnomAD v4 |
| 17 | g.50195940C>T | CA400221004 | COL1A1 | c.1039G>A (p.Gly347Ser) c.957+374G>A (n.957+374G>A) | |
| 17 | g.50195941A>C | CA500851144 | COL1A1 | c.1038T>G (p.Pro346=) c.957+373T>G (n.957+373T>G) | |
| 17 | g.50195941A>G | CA500851146 | COL1A1 | c.1038T>C (p.Pro346=) c.957+373T>C (n.957+373T>C) | gnomAD v4 |
| 17 | g.50195941A>T | CA500851145 | COL1A1 | c.1038T>A (p.Pro346=) c.957+373T>A (n.957+373T>A) | gnomAD v4 |
| 17 | g.50195941_50195942delinsAG | CA2263918992 | COL1A1 | c.1037_1038delinsCT (p.Pro346=) c.957+372_957+373delinsCT (n.957+372_957+373delinsCT) | |
| 17 | g.50195942G>A | CA8645424 | COL1A1 | c.1037C>T (p.Pro346Leu) c.957+372C>T (n.957+372C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50195942G>C | CA400221006 | COL1A1 | c.1037C>G (p.Pro346Arg) c.957+372C>G (n.957+372C>G) | |
| 17 | g.50195942G= | CA2263918993 | COL1A1 | c.1037C= (p.Pro346=) c.957+372C= (n.957+372C=) | |
| 17 | g.50195942G>T | CA400221005 | COL1A1 | c.1037C>A (p.Pro346His) c.957+372C>A (n.957+372C>A) | gnomAD v4 |
| 17 | g.50195944del | CA915950616 | COL1A1 | c.1037del (p.Pro346LeufsTer?) c.957+372del (n.957+372del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50195943G>A | CA8645425 | COL1A1 | c.1036C>T (p.Pro346Ser) c.957+371C>T (n.957+371C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50195943G>C | CA400221007 | COL1A1 | c.1036C>G (p.Pro346Ala) c.957+371C>G (n.957+371C>G) | |
| 17 | g.50195943G= | CA2263918994 | COL1A1 | c.1036C= (p.Pro346=) c.957+371C= (n.957+371C=) | |
| 17 | g.50195943G>T | CA400221008 | COL1A1 | c.1036C>A (p.Pro346Thr) c.957+371C>A (n.957+371C>A) | |
| 17 | g.50195944G>A | CA500851147 | COL1A1 | c.1035C>T (p.Phe345=) c.957+370C>T (n.957+370C>T) | ClinVar gnomAD v4 |
| 17 | g.50195944G>C | CA400221009 | COL1A1 | c.1035C>G (p.Phe345Leu) c.957+370C>G (n.957+370C>G) | gnomAD v4 |
| 17 | g.50195944G>T | CA400221010 | COL1A1 | c.1035C>A (p.Phe345Leu) c.957+370C>A (n.957+370C>A) | gnomAD v4 |
| 17 | g.50195945A>C | CA400221011 | COL1A1 | c.1034T>G (p.Phe345Cys) c.957+369T>G (n.957+369T>G) | |
| 17 | g.50195945A>G | CA400221012 | COL1A1 | c.1034T>C (p.Phe345Ser) c.957+369T>C (n.957+369T>C) | |
| 17 | g.50195945A>T | CA400221013 | COL1A1 | c.1034T>A (p.Phe345Tyr) c.957+369T>A (n.957+369T>A) | gnomAD v4 |
| 17 | g.50195946A>C | CA400221014 | COL1A1 | c.1033T>G (p.Phe345Val) c.957+368T>G (n.957+368T>G) | |
| 17 | g.50195946A>G | CA400221015 | COL1A1 | c.1033T>C (p.Phe345Leu) c.957+368T>C (n.957+368T>C) | gnomAD v4 |
| 17 | g.50195946A>T | CA400221016 | COL1A1 | c.1033T>A (p.Phe345Ile) c.957+368T>A (n.957+368T>A) | |
| 17 | g.50195947G>A | CA500851149 | COL1A1 | c.1032C>T (p.Gly344=) c.957+367C>T (n.957+367C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50195947G>C | CA500851151 | COL1A1 | c.1032C>G (p.Gly344=) c.957+367C>G (n.957+367C>G) | |
| 17 | g.50195947G= | CA2263918995 | COL1A1 | c.1032C= (p.Gly344=) c.957+367C= (n.957+367C=) | |
| 17 | g.50195947G>T | CA500851152 | COL1A1 | c.1032C>A (p.Gly344=) c.957+367C>A (n.957+367C>A) | gnomAD v4 |
| 17 | g.50195948C>A | CA400221019 | COL1A1 | c.1031G>T (p.Gly344Val) c.957+366G>T (n.957+366G>T) | gnomAD v4 |
| 17 | g.50195948C>G | CA400221018 | COL1A1 | c.1031G>C (p.Gly344Ala) c.957+366G>C (n.957+366G>C) | |
| 17 | g.50195948C>T | CA400221017 | COL1A1 | c.1031G>A (p.Gly344Asp) c.957+366G>A (n.957+366G>A) | gnomAD v4 |
| 17 | g.50195948_50195949insTC | CA2523920597 | COL1A1 | c.1031_1032insAG (p.Phe345AlafsTer?) c.957+366_957+367insAG (n.957+366_957+367insAG) | |
| 17 | g.50195949C>A | CA400221020 | COL1A1 | c.1030G>T (p.Gly344Cys) c.957+365G>T (n.957+365G>T) | gnomAD v4 |
| 17 | g.50195949C= | CA2263918996 | COL1A1 | c.1030G= (p.Gly344=) c.957+365G= (n.957+365G=) | |
| 17 | g.50195949C>G | CA400221021 | COL1A1 | c.1030G>C (p.Gly344Arg) c.957+365G>C (n.957+365G>C) | |
| 17 | g.50195949C>T | CA400221022 | COL1A1 | c.1030G>A (p.Gly344Ser) c.957+365G>A (n.957+365G>A) | dbSNP gnomAD v4 |