| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94409371_94409388dup | CA2580077971 | COL1A2 | c.842_859dup (p.Gly286_Leu287insProArgGlyGluValGly) c.836_853dup (p.Gly284_Leu285insProArgGlyGluValGly) | ClinVar |
| 7 | g.94409373_94409376delinsCGTG | CA1726750773 | COL1A2 | c.844_847delinsCGTG (p.Arg282=) c.838_841delinsCGTG (p.Arg280=) | |
| 7 | g.94409374G>A | CA4346845 | COL1A2 | c.845G>A (p.Arg282His) c.839G>A (p.Arg280His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.94409374G>C | CA368220637 | COL1A2 | c.845G>C (p.Arg282Pro) c.839G>C (p.Arg280Pro) | |
| 7 | g.94409374G= | CA1726750779 | COL1A2 | c.845G= (p.Arg282=) c.839G= (p.Arg280=) | |
| 7 | g.94409374G>T | CA368220636 | COL1A2 | c.845G>T (p.Arg282Leu) c.839G>T (p.Arg280Leu) | dbSNP COSMIC |
| 7 | g.94409377_94409379del | CA260389 | COL1A2 | c.848_850del (p.Gly283del) c.842_844del (p.Gly281del) | ClinVar dbSNP |
| 7 | g.94409375T>A | CA456488282 | COL1A2 | c.846T>A (p.Arg282=) c.840T>A (p.Arg280=) | |
| 7 | g.94409375T>C | CA456488283 | COL1A2 | c.846T>C (p.Arg282=) c.840T>C (p.Arg280=) | |
| 7 | g.94409375T>G | CA456488284 | COL1A2 | c.846T>G (p.Arg282=) c.840T>G (p.Arg280=) | |
| 7 | g.94409376G>A | CA368220638 | COL1A2 | c.847G>A (p.Gly283Ser) c.841G>A (p.Gly281Ser) | COSMIC |
| 7 | g.94409376G>C | CA368220640 | COL1A2 | c.847G>C (p.Gly283Arg) c.841G>C (p.Gly281Arg) | |
| 7 | g.94409376G>T | CA368220639 | COL1A2 | c.847G>T (p.Gly283Cys) c.841G>T (p.Gly281Cys) | |
| 7 | g.94409377G>A | CA368220641 | COL1A2 | c.848G>A (p.Gly283Asp) c.842G>A (p.Gly281Asp) | |
| 7 | g.94409377G>C | CA368220642 | COL1A2 | c.848G>C (p.Gly283Ala) c.842G>C (p.Gly281Ala) | |
| 7 | g.94409377G>T | CA368220643 | COL1A2 | c.848G>T (p.Gly283Val) c.842G>T (p.Gly281Val) | |
| 7 | g.94409378T>A | CA456488286 | COL1A2 | c.849T>A (p.Gly283=) c.843T>A (p.Gly281=) | |
| 7 | g.94409378T>C | CA456488285 | COL1A2 | c.849T>C (p.Gly283=) c.843T>C (p.Gly281=) | |
| 7 | g.94409378T>G | CA456488287 | COL1A2 | c.849T>G (p.Gly283=) c.843T>G (p.Gly281=) | |
| 7 | g.94409379G>A | CA162919684 | COL1A2 | c.850G>A (p.Glu284Lys) c.844G>A (p.Glu282Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94409379G>C | CA368220644 | COL1A2 | c.850G>C (p.Glu284Gln) c.844G>C (p.Glu282Gln) | |
| 7 | g.94409379G= | CA1726750785 | COL1A2 | c.850G= (p.Glu284=) c.844G= (p.Glu282=) | |
| 7 | g.94409379G>T | CA368220645 | COL1A2 | c.850G>T (p.Glu284Ter) c.844G>T (p.Glu282Ter) | |
| 7 | g.94409380A>C | CA368220646 | COL1A2 | c.851A>C (p.Glu284Ala) c.845A>C (p.Glu282Ala) | |
| 7 | g.94409380A>G | CA368220647 | COL1A2 | c.851A>G (p.Glu284Gly) c.845A>G (p.Glu282Gly) | |
| 7 | g.94409380A>T | CA368220648 | COL1A2 | c.851A>T (p.Glu284Val) c.845A>T (p.Glu282Val) | |
| 7 | g.94409381A= | CA1726750796 | COL1A2 | c.852A= (p.Glu284=) c.846A= (p.Glu282=) | |
| 7 | g.94409381A>C | CA368220649 | COL1A2 | c.852A>C (p.Glu284Asp) c.846A>C (p.Glu282Asp) | |
| 7 | g.94409381A>G | CA456488288 | COL1A2 | c.852A>G (p.Glu284=) c.846A>G (p.Glu282=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.94409381A>T | CA368220650 | COL1A2 | c.852A>T (p.Glu284Asp) c.846A>T (p.Glu282Asp) | |
| 7 | g.94409382G>A | CA4346846 | COL1A2 | c.853G>A (p.Val285Met) c.847G>A (p.Val283Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.94409382G>C | CA368220651 | COL1A2 | c.853G>C (p.Val285Leu) c.847G>C (p.Val283Leu) | |
| 7 | g.94409382G= | CA1726750800 | COL1A2 | c.853G= (p.Val285=) c.847G= (p.Val283=) | |
| 7 | g.94409382G>T | CA4346847 | COL1A2 | c.853G>T (p.Val285Leu) c.847G>T (p.Val283Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94409383T>A | CA368220652 | COL1A2 | c.854T>A (p.Val285Glu) c.848T>A (p.Val283Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.94409383T>C | CA368220653 | COL1A2 | c.854T>C (p.Val285Ala) c.848T>C (p.Val283Ala) | ClinVar |
| 7 | g.94409383T>G | CA368220654 | COL1A2 | c.854T>G (p.Val285Gly) c.848T>G (p.Val283Gly) | |
| 7 | g.94409383T= | CA1726750811 | COL1A2 | c.854T= (p.Val285=) c.848T= (p.Val283=) | |
| 7 | g.94409383_94409402delinsTGGGTCTTCCAGGCCTCTCC | CA1726750813 | COL1A2 | c.854_873delinsTGGGTCTTCCAGGCCTCTCC (p.Val285=) c.848_867delinsTGGGTCTTCCAGGCCTCTCC (p.Val283=) | |
| 7 | g.94409384G>A | CA456488289 | COL1A2 | c.855G>A (p.Val285=) c.849G>A (p.Val283=) | ClinVar |
| 7 | g.94409384G>C | CA4346848 | COL1A2 | c.855G>C (p.Val285=) c.849G>C (p.Val283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94409384G= | CA1726750829 | COL1A2 | c.855G= (p.Val285=) c.849G= (p.Val283=) | |
| 7 | g.94409384G>T | CA456488290 | COL1A2 | c.855G>T (p.Val285=) c.849G>T (p.Val283=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.94409386_94409404del | CA915945363 | COL1A2 | c.857_875del (p.Gly286AlafsTer?) c.851_869del (p.Gly284AlafsTer?) | ClinVar dbSNP |
| 7 | g.94409385G>A | CA368220655 | COL1A2 | c.856G>A (p.Gly286Ser) c.850G>A (p.Gly284Ser) | ClinVar dbSNP |
| 7 | g.94409385G>C | CA368220656 | COL1A2 | c.856G>C (p.Gly286Arg) c.850G>C (p.Gly284Arg) | |
| 7 | g.94409385G= | CA1726750848 | COL1A2 | c.856G= (p.Gly286=) c.850G= (p.Gly284=) | |
| 7 | g.94409385G>T | CA368220657 | COL1A2 | c.856G>T (p.Gly286Cys) c.850G>T (p.Gly284Cys) | ClinVar |
| 7 | g.94409386G>A | CA368220658 | COL1A2 | c.857G>A (p.Gly286Asp) c.851G>A (p.Gly284Asp) | |
| 7 | g.94409386G>C | CA162919692 | COL1A2 | c.857G>C (p.Gly286Ala) c.851G>C (p.Gly284Ala) | ClinVar dbSNP |