| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99583402_99583412del | CA2671532895 | MTTP | c.278_288del (p.Asn93ArgfsTer13) c.29_39del (p.Asn10ArgfsTer?) c.29_39del (p.Asn10ArgfsTer13) c.*368_*378del (n.*368_*378del) c.308_318del (p.Asn103ArgfsTer13) c.359_369del (p.Asn120ArgfsTer13) c.*341_*351del (n.*341_*351del) | gnomAD v4 |
| 4 | g.99583412_99583413del | CA2671532896 | MTTP | c.288_289del (p.Gly97ArgfsTer12) c.39_40del (p.Gly14ArgfsTer?) c.39_40del (p.Gly14ArgfsTer12) c.*378_*379del (n.*378_*379del) c.318_319del (p.Gly107ArgfsTer12) c.369_370del (p.Gly124ArgfsTer12) c.*351_*352del (n.*351_*352del) | gnomAD v4 |
| 4 | g.99583410A>C | CA440328599 | MTTP | c.286A>C (p.Arg96=) c.37A>C (p.Arg13=) c.*376A>C (n.*376A>C) c.316A>C (p.Arg106=) c.367A>C (p.Arg123=) c.*349A>C (n.*349A>C) | |
| 4 | g.99583410A>G | CA357502080 | MTTP | c.286A>G (p.Arg96Gly) c.37A>G (p.Arg13Gly) c.*376A>G (n.*376A>G) c.316A>G (p.Arg106Gly) c.367A>G (p.Arg123Gly) c.*349A>G (n.*349A>G) | |
| 4 | g.99583410A>T | CA357502082 | MTTP | c.286A>T (p.Arg96Ter) c.37A>T (p.Arg13Ter) c.*376A>T (n.*376A>T) c.316A>T (p.Arg106Ter) c.367A>T (p.Arg123Ter) c.*349A>T (n.*349A>T) | |
| 4 | g.99583411G>A | CA357502084 | MTTP | c.287G>A (p.Arg96Lys) c.38G>A (p.Arg13Lys) c.*377G>A (n.*377G>A) c.317G>A (p.Arg106Lys) c.368G>A (p.Arg123Lys) c.*350G>A (n.*350G>A) | dbSNP |
| 4 | g.99583411G>C | CA357502086 | MTTP | c.287G>C (p.Arg96Thr) c.38G>C (p.Arg13Thr) c.*377G>C (n.*377G>C) c.317G>C (p.Arg106Thr) c.368G>C (p.Arg123Thr) c.*350G>C (n.*350G>C) | |
| 4 | g.99583411G= | CA1480066682 | MTTP | c.287G= (p.Arg96=) c.38G= (p.Arg13=) c.*377G= (n.*377G=) c.317G= (p.Arg106=) c.368G= (p.Arg123=) c.*350G= (n.*350G=) | |
| 4 | g.99583411G>T | CA357502087 | MTTP | c.287G>T (p.Arg96Ile) c.38G>T (p.Arg13Ile) c.*377G>T (n.*377G>T) c.317G>T (p.Arg106Ile) c.368G>T (p.Arg123Ile) c.*350G>T (n.*350G>T) | |
| 4 | g.99583412A>C | CA357502088 | MTTP | c.288A>C (p.Arg96Ser) c.39A>C (p.Arg13Ser) c.*378A>C (n.*378A>C) c.318A>C (p.Arg106Ser) c.369A>C (p.Arg123Ser) c.*351A>C (n.*351A>C) | |
| 4 | g.99583412A>G | CA440328600 | MTTP | c.288A>G (p.Arg96=) c.39A>G (p.Arg13=) c.*378A>G (n.*378A>G) c.318A>G (p.Arg106=) c.369A>G (p.Arg123=) c.*351A>G (n.*351A>G) | ClinVar |
| 4 | g.99583412A>T | CA357502091 | MTTP | c.288A>T (p.Arg96Ser) c.39A>T (p.Arg13Ser) c.*378A>T (n.*378A>T) c.318A>T (p.Arg106Ser) c.369A>T (p.Arg123Ser) c.*351A>T (n.*351A>T) | |
| 4 | g.99583413G>A | CA357502093 | MTTP | c.289G>A (p.Gly97Arg) c.40G>A (p.Gly14Arg) c.*379G>A (n.*379G>A) c.319G>A (p.Gly107Arg) c.370G>A (p.Gly124Arg) c.*352G>A (n.*352G>A) | gnomAD v4 |
| 4 | g.99583413G>C | CA357502095 | MTTP | c.289G>C (p.Gly97Arg) c.40G>C (p.Gly14Arg) c.*379G>C (n.*379G>C) c.319G>C (p.Gly107Arg) c.370G>C (p.Gly124Arg) c.*352G>C (n.*352G>C) | |
| 4 | g.99583413G>T | CA357502097 | MTTP | c.289G>T (p.Gly97Ter) c.40G>T (p.Gly14Ter) c.*379G>T (n.*379G>T) c.319G>T (p.Gly107Ter) c.370G>T (p.Gly124Ter) c.*352G>T (n.*352G>T) | |
| 4 | g.99583414del | CA2499217351 | MTTP | c.290del (p.Gly97GlufsTer14) c.41del (p.Gly14GlufsTer?) c.41del (p.Gly14GlufsTer14) c.*380del (n.*380del) c.320del (p.Gly107GlufsTer14) c.371del (p.Gly124GlufsTer14) c.*353del (n.*353del) | ClinVar dbSNP |
| 4 | g.99583414G>A | CA3021797 | MTTP | c.290G>A (p.Gly97Glu) c.41G>A (p.Gly14Glu) c.*380G>A (n.*380G>A) c.320G>A (p.Gly107Glu) c.371G>A (p.Gly124Glu) c.*353G>A (n.*353G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583414G>C | CA357502099 | MTTP | c.290G>C (p.Gly97Ala) c.41G>C (p.Gly14Ala) c.*380G>C (n.*380G>C) c.320G>C (p.Gly107Ala) c.371G>C (p.Gly124Ala) c.*353G>C (n.*353G>C) | |
| 4 | g.99583414G= | CA1480066689 | MTTP | c.290G= (p.Gly97=) c.41G= (p.Gly14=) c.*380G= (n.*380G=) c.320G= (p.Gly107=) c.371G= (p.Gly124=) c.*353G= (n.*353G=) | |
| 4 | g.99583414G>T | CA357502100 | MTTP | c.290G>T (p.Gly97Val) c.41G>T (p.Gly14Val) c.*380G>T (n.*380G>T) c.320G>T (p.Gly107Val) c.371G>T (p.Gly124Val) c.*353G>T (n.*353G>T) | |
| 4 | g.99583415A>C | CA440328601 | MTTP | c.291A>C (p.Gly97=) c.42A>C (p.Gly14=) c.*381A>C (n.*381A>C) c.321A>C (p.Gly107=) c.372A>C (p.Gly124=) c.*354A>C (n.*354A>C) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99583415A>G | CA440328602 | MTTP | c.291A>G (p.Gly97=) c.42A>G (p.Gly14=) c.*381A>G (n.*381A>G) c.321A>G (p.Gly107=) c.372A>G (p.Gly124=) c.*354A>G (n.*354A>G) | |
| 4 | g.99583415A>T | CA440328603 | MTTP | c.291A>T (p.Gly97=) c.42A>T (p.Gly14=) c.*381A>T (n.*381A>T) c.321A>T (p.Gly107=) c.372A>T (p.Gly124=) c.*354A>T (n.*354A>T) | |
| 4 | g.99583416G>A | CA357502104 | MTTP | c.292G>A (p.Glu98Lys) c.43G>A (p.Glu15Lys) c.*382G>A (n.*382G>A) c.322G>A (p.Glu108Lys) c.373G>A (p.Glu125Lys) c.*355G>A (n.*355G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583416G>C | CA3021798 | MTTP | c.292G>C (p.Glu98Gln) c.43G>C (p.Glu15Gln) c.*382G>C (n.*382G>C) c.322G>C (p.Glu108Gln) c.373G>C (p.Glu125Gln) c.*355G>C (n.*355G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583416G= | CA1480066693 | MTTP | c.292G= (p.Glu98=) c.43G= (p.Glu15=) c.*382G= (n.*382G=) c.322G= (p.Glu108=) c.373G= (p.Glu125=) c.*355G= (n.*355G=) | |
| 4 | g.99583416G>T | CA357502107 | MTTP | c.292G>T (p.Glu98Ter) c.43G>T (p.Glu15Ter) c.*382G>T (n.*382G>T) c.322G>T (p.Glu108Ter) c.373G>T (p.Glu125Ter) c.*355G>T (n.*355G>T) | |
| 4 | g.99583417A= | CA1480066696 | MTTP | c.293A= (p.Glu98=) c.44A= (p.Glu15=) c.*383A= (n.*383A=) c.323A= (p.Glu108=) c.374A= (p.Glu125=) c.*356A= (n.*356A=) | |
| 4 | g.99583417A>C | CA357502110 | MTTP | c.293A>C (p.Glu98Ala) c.44A>C (p.Glu15Ala) c.*383A>C (n.*383A>C) c.323A>C (p.Glu108Ala) c.374A>C (p.Glu125Ala) c.*356A>C (n.*356A>C) | dbSNP |
| 4 | g.99583417A>G | CA357502112 | MTTP | c.293A>G (p.Glu98Gly) c.44A>G (p.Glu15Gly) c.*383A>G (n.*383A>G) c.323A>G (p.Glu108Gly) c.374A>G (p.Glu125Gly) c.*356A>G (n.*356A>G) | dbSNP gnomAD v4 |
| 4 | g.99583417A>T | CA357502114 | MTTP | c.293A>T (p.Glu98Val) c.44A>T (p.Glu15Val) c.*383A>T (n.*383A>T) c.323A>T (p.Glu108Val) c.374A>T (p.Glu125Val) c.*356A>T (n.*356A>T) | |
| 4 | g.99583418G>A | CA440328604 | MTTP | c.294G>A (p.Glu98=) c.45G>A (p.Glu15=) c.*384G>A (n.*384G>A) c.324G>A (p.Glu108=) c.375G>A (p.Glu125=) c.*357G>A (n.*357G>A) | dbSNP |
| 4 | g.99583418G>C | CA3021799 | MTTP | c.294G>C (p.Glu98Asp) c.45G>C (p.Glu15Asp) c.*384G>C (n.*384G>C) c.324G>C (p.Glu108Asp) c.375G>C (p.Glu125Asp) c.*357G>C (n.*357G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583418G= | CA1480066702 | MTTP | c.294G= (p.Glu98=) c.45G= (p.Glu15=) c.*384G= (n.*384G=) c.324G= (p.Glu108=) c.375G= (p.Glu125=) c.*357G= (n.*357G=) | |
| 4 | g.99583418G>T | CA102617498 | MTTP | c.294G>T (p.Glu98Asp) c.45G>T (p.Glu15Asp) c.*384G>T (n.*384G>T) c.324G>T (p.Glu108Asp) c.375G>T (p.Glu125Asp) c.*357G>T (n.*357G>T) | dbSNP |
| 4 | g.99583419A>C | CA357502116 | MTTP | c.295A>C (p.Lys99Gln) c.46A>C (p.Lys16Gln) c.*385A>C (n.*385A>C) c.325A>C (p.Lys109Gln) c.376A>C (p.Lys126Gln) c.*358A>C (n.*358A>C) | |
| 4 | g.99583419A>G | CA357502118 | MTTP | c.295A>G (p.Lys99Glu) c.46A>G (p.Lys16Glu) c.*385A>G (n.*385A>G) c.325A>G (p.Lys109Glu) c.376A>G (p.Lys126Glu) c.*358A>G (n.*358A>G) | |
| 4 | g.99583419A>T | CA357502126 | MTTP | c.295A>T (p.Lys99Ter) c.46A>T (p.Lys16Ter) c.*385A>T (n.*385A>T) c.325A>T (p.Lys109Ter) c.376A>T (p.Lys126Ter) c.*358A>T (n.*358A>T) | |
| 4 | g.99583420A= | CA1480066703 | MTTP | c.296A= (p.Lys99=) c.47A= (p.Lys16=) c.*386A= (n.*386A=) c.326A= (p.Lys109=) c.377A= (p.Lys126=) c.*359A= (n.*359A=) | |
| 4 | g.99583420A>C | CA357502131 | MTTP | c.296A>C (p.Lys99Thr) c.47A>C (p.Lys16Thr) c.*386A>C (n.*386A>C) c.326A>C (p.Lys109Thr) c.377A>C (p.Lys126Thr) c.*359A>C (n.*359A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583420A>G | CA357502129 | MTTP | c.296A>G (p.Lys99Arg) c.47A>G (p.Lys16Arg) c.*386A>G (n.*386A>G) c.326A>G (p.Lys109Arg) c.377A>G (p.Lys126Arg) c.*359A>G (n.*359A>G) | |
| 4 | g.99583420A>T | CA357502128 | MTTP | c.296A>T (p.Lys99Met) c.47A>T (p.Lys16Met) c.*386A>T (n.*386A>T) c.326A>T (p.Lys109Met) c.377A>T (p.Lys126Met) c.*359A>T (n.*359A>T) | |
| 4 | g.99583421G>A | CA440328605 | MTTP | c.297G>A (p.Lys99=) c.48G>A (p.Lys16=) c.*387G>A (n.*387G>A) c.327G>A (p.Lys109=) c.378G>A (p.Lys126=) c.*360G>A (n.*360G>A) | ClinVar dbSNP |
| 4 | g.99583421G>C | CA357502132 | MTTP | c.297G>C (p.Lys99Asn) c.48G>C (p.Lys16Asn) c.*387G>C (n.*387G>C) c.327G>C (p.Lys109Asn) c.378G>C (p.Lys126Asn) c.*360G>C (n.*360G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583421G= | CA1480066708 | MTTP | c.297G= (p.Lys99=) c.48G= (p.Lys16=) c.*387G= (n.*387G=) c.327G= (p.Lys109=) c.378G= (p.Lys126=) c.*360G= (n.*360G=) | |
| 4 | g.99583421G>T | CA357502136 | MTTP | c.297G>T (p.Lys99Asn) c.48G>T (p.Lys16Asn) c.*387G>T (n.*387G>T) c.327G>T (p.Lys109Asn) c.378G>T (p.Lys126Asn) c.*360G>T (n.*360G>T) | COSMIC |
| 4 | g.99583422A>C | CA357502137 | MTTP | c.298A>C (p.Ser100Arg) c.49A>C c.49A>C (p.Ser17Arg) c.*388A>C (n.*388A>C) c.328A>C (p.Ser110Arg) c.379A>C (p.Ser127Arg) c.*361A>C (n.*361A>C) | |
| 4 | g.99583422A>G | CA357502138 | MTTP | c.298A>G (p.Ser100Gly) c.49A>G c.49A>G (p.Ser17Gly) c.*388A>G (n.*388A>G) c.328A>G (p.Ser110Gly) c.379A>G (p.Ser127Gly) c.*361A>G (n.*361A>G) | gnomAD v4 |
| 4 | g.99583422A>T | CA357502140 | MTTP | c.298A>T (p.Ser100Cys) c.49A>T c.49A>T (p.Ser17Cys) c.*388A>T (n.*388A>T) c.328A>T (p.Ser110Cys) c.379A>T (p.Ser127Cys) c.*361A>T (n.*361A>T) | |
| 4 | g.99583423G>A | CA357502142 | MTTP | c.299G>A (p.Ser100Asn) c.50G>A (p.Ser17Asn) c.329G>A (p.Ser110Asn) c.380G>A (p.Ser127Asn) c.*362G>A (n.*362G>A) |