| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70758081_70758084del | CA2609526117 | ADAMTS14 | c.3057_3060del (p.Ala1020ValfsTer10) c.3066_3069del (p.Ala1023ValfsTer10) c.2556_2559del (p.Ala853ValfsTer10) c.2130_2133del (p.Ala711ValfsTer10) c.1626_1629del (p.Ala543ValfsTer10) | gnomAD v4 |
| 10 | g.70758081C>A | CA470056271 | ADAMTS14 | c.3057C>A (p.Pro1019=) c.3066C>A (p.Pro1022=) c.2556C>A (p.Pro852=) c.2130C>A (p.Pro710=) c.1626C>A (p.Pro542=) | |
| 10 | g.70758081C= | CA1918399666 | ADAMTS14 | c.3057C= (p.Pro1019=) c.3066C= (p.Pro1022=) c.2556C= (p.Pro852=) c.2130C= (p.Pro710=) c.1626C= (p.Pro542=) | |
| 10 | g.70758081C>G | CA470056270 | ADAMTS14 | c.3057C>G (p.Pro1019=) c.3066C>G (p.Pro1022=) c.2556C>G (p.Pro852=) c.2130C>G (p.Pro710=) c.1626C>G (p.Pro542=) | |
| 10 | g.70758081C>T | CA5540319 | ADAMTS14 | c.3057C>T (p.Pro1019=) c.3066C>T (p.Pro1022=) c.2556C>T (p.Pro852=) c.2130C>T (p.Pro710=) c.1626C>T (p.Pro542=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758081_70758082insCT | CA5540320 | ADAMTS14 | c.3057_3058insCT (p.Ala1020LeufsTer12) c.3066_3067insCT (p.Ala1023LeufsTer12) c.2556_2557insCT (p.Ala853LeufsTer12) c.2130_2131insCT (p.Ala711LeufsTer12) c.1626_1627insCT (p.Ala543LeufsTer12) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758082G>A | CA377109019 | ADAMTS14 | c.3058G>A (p.Ala1020Thr) c.3067G>A (p.Ala1023Thr) c.2557G>A (p.Ala853Thr) c.2131G>A (p.Ala711Thr) c.1627G>A (p.Ala543Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758082G>C | CA377109020 | ADAMTS14 | c.3058G>C (p.Ala1020Pro) c.3067G>C (p.Ala1023Pro) c.2557G>C (p.Ala853Pro) c.2131G>C (p.Ala711Pro) c.1627G>C (p.Ala543Pro) | |
| 10 | g.70758082G= | CA1918399667 | ADAMTS14 | c.3058G= (p.Ala1020=) c.3067G= (p.Ala1023=) c.2557G= (p.Ala853=) c.2131G= (p.Ala711=) c.1627G= (p.Ala543=) | |
| 10 | g.70758082G>T | CA377109021 | ADAMTS14 | c.3058G>T (p.Ala1020Ser) c.3067G>T (p.Ala1023Ser) c.2557G>T (p.Ala853Ser) c.2131G>T (p.Ala711Ser) c.1627G>T (p.Ala543Ser) | |
| 10 | g.70758083C>A | CA377109022 | ADAMTS14 | c.3059C>A (p.Ala1020Asp) c.3068C>A (p.Ala1023Asp) c.2558C>A (p.Ala853Asp) c.2132C>A (p.Ala711Asp) c.1628C>A (p.Ala543Asp) | gnomAD v4 |
| 10 | g.70758083C= | CA1918399668 | ADAMTS14 | c.3059C= (p.Ala1020=) c.3068C= (p.Ala1023=) c.2558C= (p.Ala853=) c.2132C= (p.Ala711=) c.1628C= (p.Ala543=) | |
| 10 | g.70758083C>G | CA5540321 | ADAMTS14 | c.3059C>G (p.Ala1020Gly) c.3068C>G (p.Ala1023Gly) c.2558C>G (p.Ala853Gly) c.2132C>G (p.Ala711Gly) c.1628C>G (p.Ala543Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758083C>T | CA209416027 | ADAMTS14 | c.3059C>T (p.Ala1020Val) c.3068C>T (p.Ala1023Val) c.2558C>T (p.Ala853Val) c.2132C>T (p.Ala711Val) c.1628C>T (p.Ala543Val) | dbSNP gnomAD v4 |
| 10 | g.70758084C>A | CA470056273 | ADAMTS14 | c.3060C>A (p.Ala1020=) c.3069C>A (p.Ala1023=) c.2559C>A (p.Ala853=) c.2133C>A (p.Ala711=) c.1629C>A (p.Ala543=) | gnomAD v4 |
| 10 | g.70758084C>G | CA470056275 | ADAMTS14 | c.3060C>G (p.Ala1020=) c.3069C>G (p.Ala1023=) c.2559C>G (p.Ala853=) c.2133C>G (p.Ala711=) c.1629C>G (p.Ala543=) | |
| 10 | g.70758084C>T | CA470056274 | ADAMTS14 | c.3060C>T (p.Ala1020=) c.3069C>T (p.Ala1023=) c.2559C>T (p.Ala853=) c.2133C>T (p.Ala711=) c.1629C>T (p.Ala543=) | |
| 10 | g.70758085T>A | CA377109023 | ADAMTS14 | c.3061T>A (p.Cys1021Ser) c.3070T>A (p.Cys1024Ser) c.2560T>A (p.Cys854Ser) c.2134T>A (p.Cys712Ser) c.1630T>A (p.Cys544Ser) | |
| 10 | g.70758085T>C | CA377109024 | ADAMTS14 | c.3061T>C (p.Cys1021Arg) c.3070T>C (p.Cys1024Arg) c.2560T>C (p.Cys854Arg) c.2134T>C (p.Cys712Arg) c.1630T>C (p.Cys544Arg) | |
| 10 | g.70758085T>G | CA377109025 | ADAMTS14 | c.3061T>G (p.Cys1021Gly) c.3070T>G (p.Cys1024Gly) c.2560T>G (p.Cys854Gly) c.2134T>G (p.Cys712Gly) c.1630T>G (p.Cys544Gly) | |
| 10 | g.70758086G>A | CA377109026 | ADAMTS14 | c.3062G>A (p.Cys1021Tyr) c.3071G>A (p.Cys1024Tyr) c.2561G>A (p.Cys854Tyr) c.2135G>A (p.Cys712Tyr) c.1631G>A (p.Cys544Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70758086G>C | CA377109028 | ADAMTS14 | c.3062G>C (p.Cys1021Ser) c.3071G>C (p.Cys1024Ser) c.2561G>C (p.Cys854Ser) c.2135G>C (p.Cys712Ser) c.1631G>C (p.Cys544Ser) | |
| 10 | g.70758086G= | CA1918399669 | ADAMTS14 | c.3062G= (p.Cys1021=) c.3071G= (p.Cys1024=) c.2561G= (p.Cys854=) c.2135G= (p.Cys712=) c.1631G= (p.Cys544=) | |
| 10 | g.70758086G>T | CA377109027 | ADAMTS14 | c.3062G>T (p.Cys1021Phe) c.3071G>T (p.Cys1024Phe) c.2561G>T (p.Cys854Phe) c.2135G>T (p.Cys712Phe) c.1631G>T (p.Cys544Phe) | |
| 10 | g.70758087T>A | CA377109029 | ADAMTS14 | c.3063T>A (p.Cys1021Ter) c.3072T>A (p.Cys1024Ter) c.2562T>A (p.Cys854Ter) c.2136T>A (p.Cys712Ter) c.1632T>A (p.Cys544Ter) | |
| 10 | g.70758087T>C | CA470056276 | ADAMTS14 | c.3063T>C (p.Cys1021=) c.3072T>C (p.Cys1024=) c.2562T>C (p.Cys854=) c.2136T>C (p.Cys712=) c.1632T>C (p.Cys544=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70758087T>G | CA377109030 | ADAMTS14 | c.3063T>G (p.Cys1021Trp) c.3072T>G (p.Cys1024Trp) c.2562T>G (p.Cys854Trp) c.2136T>G (p.Cys712Trp) c.1632T>G (p.Cys544Trp) | |
| 10 | g.70758087T= | CA1918399670 | ADAMTS14 | c.3063T= (p.Cys1021=) c.3072T= (p.Cys1024=) c.2562T= (p.Cys854=) c.2136T= (p.Cys712=) c.1632T= (p.Cys544=) | |
| 10 | g.70758088G>A | CA377109031 | ADAMTS14 | c.3064G>A (p.Gly1022Arg) c.3073G>A (p.Gly1025Arg) c.2563G>A (p.Gly855Arg) c.2137G>A (p.Gly713Arg) c.1633G>A (p.Gly545Arg) | |
| 10 | g.70758088G>C | CA377109032 | ADAMTS14 | c.3064G>C (p.Gly1022Arg) c.3073G>C (p.Gly1025Arg) c.2563G>C (p.Gly855Arg) c.2137G>C (p.Gly713Arg) c.1633G>C (p.Gly545Arg) | |
| 10 | g.70758088G>T | CA377109033 | ADAMTS14 | c.3064G>T (p.Gly1022Ter) c.3073G>T (p.Gly1025Ter) c.2563G>T (p.Gly855Ter) c.2137G>T (p.Gly713Ter) c.1633G>T (p.Gly545Ter) | |
| 10 | g.70758089G>A | CA377109034 | ADAMTS14 | c.3065G>A (p.Gly1022Glu) c.3074G>A (p.Gly1025Glu) c.2564G>A (p.Gly855Glu) c.2138G>A (p.Gly713Glu) c.1634G>A (p.Gly545Glu) | |
| 10 | g.70758089G>C | CA377109035 | ADAMTS14 | c.3065G>C (p.Gly1022Ala) c.3074G>C (p.Gly1025Ala) c.2564G>C (p.Gly855Ala) c.2138G>C (p.Gly713Ala) c.1634G>C (p.Gly545Ala) | |
| 10 | g.70758089G>T | CA377109036 | ADAMTS14 | c.3065G>T (p.Gly1022Val) c.3074G>T (p.Gly1025Val) c.2564G>T (p.Gly855Val) c.2138G>T (p.Gly713Val) c.1634G>T (p.Gly545Val) | |
| 10 | g.70758090A= | CA1918399671 | ADAMTS14 | c.3066A= (p.Gly1022=) c.3075A= (p.Gly1025=) c.2565A= (p.Gly855=) c.2139A= (p.Gly713=) c.1635A= (p.Gly545=) | |
| 10 | g.70758090A>C | CA470056277 | ADAMTS14 | c.3066A>C (p.Gly1022=) c.3075A>C (p.Gly1025=) c.2565A>C (p.Gly855=) c.2139A>C (p.Gly713=) c.1635A>C (p.Gly545=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70758090A>G | CA470056278 | ADAMTS14 | c.3066A>G (p.Gly1022=) c.3075A>G (p.Gly1025=) c.2565A>G (p.Gly855=) c.2139A>G (p.Gly713=) c.1635A>G (p.Gly545=) | gnomAD v4 |
| 10 | g.70758090A>T | CA470056279 | ADAMTS14 | c.3066A>T (p.Gly1022=) c.3075A>T (p.Gly1025=) c.2565A>T (p.Gly855=) c.2139A>T (p.Gly713=) c.1635A>T (p.Gly545=) | |
| 10 | g.70758091G>A | CA377109037 | ADAMTS14 | c.3067G>A (p.Gly1023Arg) c.3076G>A (p.Gly1026Arg) c.2566G>A (p.Gly856Arg) c.2140G>A (p.Gly714Arg) c.1636G>A (p.Gly546Arg) | |
| 10 | g.70758091G>C | CA377109038 | ADAMTS14 | c.3067G>C (p.Gly1023Arg) c.3076G>C (p.Gly1026Arg) c.2566G>C (p.Gly856Arg) c.2140G>C (p.Gly714Arg) c.1636G>C (p.Gly546Arg) | |
| 10 | g.70758091G>T | CA377109039 | ADAMTS14 | c.3067G>T (p.Gly1023Ter) c.3076G>T (p.Gly1026Ter) c.2566G>T (p.Gly856Ter) c.2140G>T (p.Gly714Ter) c.1636G>T (p.Gly546Ter) | |
| 10 | g.70758092G>A | CA377109042 | ADAMTS14 | c.3067+1G>A (n.3067+1G>A) c.3076+1G>A (n.3076+1G>A) c.2566+1G>A (n.2566+1G>A) c.2140+1G>A (n.2140+1G>A) c.1636+1G>A (n.1636+1G>A) | COSMIC |
| 10 | g.70758092G>C | CA377109041 | ADAMTS14 | c.3067+1G>C (n.3067+1G>C) c.3076+1G>C (n.3076+1G>C) c.2566+1G>C (n.2566+1G>C) c.2140+1G>C (n.2140+1G>C) c.1636+1G>C (n.1636+1G>C) | |
| 10 | g.70758092G>T | CA377109040 | ADAMTS14 | c.3067+1G>T (n.3067+1G>T) c.3076+1G>T (n.3076+1G>T) c.2566+1G>T (n.2566+1G>T) c.2140+1G>T (n.2140+1G>T) c.1636+1G>T (n.1636+1G>T) | |
| 10 | g.70758093T>A | CA377109043 | ADAMTS14 | c.3067+2T>A (n.3067+2T>A) c.3076+2T>A (n.3076+2T>A) c.2566+2T>A (n.2566+2T>A) c.2140+2T>A (n.2140+2T>A) c.1636+2T>A (n.1636+2T>A) | |
| 10 | g.70758093T>C | CA5540322 | ADAMTS14 | c.3067+2T>C (n.3067+2T>C) c.3076+2T>C (n.3076+2T>C) c.2566+2T>C (n.2566+2T>C) c.2140+2T>C (n.2140+2T>C) c.1636+2T>C (n.1636+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758093T>G | CA377109044 | ADAMTS14 | c.3067+2T>G (n.3067+2T>G) c.3076+2T>G (n.3076+2T>G) c.2566+2T>G (n.2566+2T>G) c.2140+2T>G (n.2140+2T>G) c.1636+2T>G (n.1636+2T>G) | dbSNP |
| 10 | g.70758093T= | CA1918399672 | ADAMTS14 | c.3067+2T= (n.3067+2T=) c.3076+2T= (n.3076+2T=) c.2566+2T= (n.2566+2T=) c.2140+2T= (n.2140+2T=) c.1636+2T= (n.1636+2T=) | |
| 10 | g.70758094G>A | CA5540323 | ADAMTS14 | c.3067+3G>A (n.3067+3G>A) c.3076+3G>A (n.3076+3G>A) c.2566+3G>A (n.2566+3G>A) c.2140+3G>A (n.2140+3G>A) c.1636+3G>A (n.1636+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758094G>C | CA1918399674 | ADAMTS14 | c.3067+3G>C (n.3067+3G>C) c.3076+3G>C (n.3076+3G>C) c.2566+3G>C (n.2566+3G>C) c.2140+3G>C (n.2140+3G>C) c.1636+3G>C (n.1636+3G>C) | dbSNP |