UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.99583409G>A | CA440328598 | MTTP | c.285G>A (p.Gln95=) c.36G>A (p.Gln12=) c.*375G>A (n.*375G>A) c.315G>A (p.Gln105=) c.366G>A (p.Gln122=) c.*348G>A (n.*348G>A) | gnomAD v4 |
| 4 | g.99583409G>C | CA202705 | MTTP | c.285G>C (p.Gln95His) c.36G>C (p.Gln12His) c.*375G>C (n.*375G>C) c.315G>C (p.Gln105His) c.366G>C (p.Gln122His) c.*348G>C (n.*348G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583409G= | CA1480066677 | MTTP | c.285G= (p.Gln95=) c.36G= (p.Gln12=) c.*375G= (n.*375G=) c.315G= (p.Gln105=) c.366G= (p.Gln122=) c.*348G= (n.*348G=) | |
| 4 | g.99583409G>T | CA357502078 | MTTP | c.285G>T (p.Gln95His) c.36G>T (p.Gln12His) c.*375G>T (n.*375G>T) c.315G>T (p.Gln105His) c.366G>T (p.Gln122His) c.*348G>T (n.*348G>T) | |
| 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) | |
| 4 | g.99583423G>C | CA357502144 | MTTP | c.299G>C (p.Ser100Thr) c.50G>C (p.Ser17Thr) c.329G>C (p.Ser110Thr) c.380G>C (p.Ser127Thr) c.*362G>C (n.*362G>C) | |
| 4 | g.99583423G>T | CA357502146 | MTTP | c.299G>T (p.Ser100Ile) c.50G>T (p.Ser17Ile) c.329G>T (p.Ser110Ile) c.380G>T (p.Ser127Ile) c.*362G>T (n.*362G>T) | |
| 4 | g.99583424C>A | CA357502148 | MTTP | c.300C>A (p.Ser100Arg) c.51C>A (p.Ser17Arg) c.330C>A (p.Ser110Arg) c.381C>A (p.Ser127Arg) c.*363C>A (n.*363C>A) | |
| 4 | g.99583424C>G | CA357502150 | MTTP | c.300C>G (p.Ser100Arg) c.51C>G (p.Ser17Arg) c.330C>G (p.Ser110Arg) c.381C>G (p.Ser127Arg) c.*363C>G (n.*363C>G) | |
| 4 | g.99583424C>T | CA440328606 | MTTP | c.300C>T (p.Ser100=) c.51C>T (p.Ser17=) c.330C>T (p.Ser110=) c.381C>T (p.Ser127=) c.*363C>T (n.*363C>T) | |
| 4 | g.99583425A>C | CA357502151 | MTTP | c.301A>C (p.Ile101Leu) c.52A>C (p.Ile18Leu) c.331A>C (p.Ile111Leu) c.382A>C (p.Ile128Leu) c.*364A>C (n.*364A>C) | |
| 4 | g.99583425A>G | CA357502153 | MTTP | c.301A>G (p.Ile101Val) c.52A>G (p.Ile18Val) c.331A>G (p.Ile111Val) c.382A>G (p.Ile128Val) c.*364A>G (n.*364A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583425A>T | CA357502154 | MTTP | c.301A>T (p.Ile101Phe) c.52A>T (p.Ile18Phe) c.331A>T (p.Ile111Phe) c.382A>T (p.Ile128Phe) c.*364A>T (n.*364A>T) | |
| 4 | g.99583426T>A | CA357502161 | MTTP | c.302T>A (p.Ile101Asn) c.53T>A (p.Ile18Asn) c.332T>A (p.Ile111Asn) c.383T>A (p.Ile128Asn) c.*365T>A (n.*365T>A) | |
| 4 | g.99583426T>C | CA357502157 | MTTP | c.302T>C (p.Ile101Thr) c.53T>C (p.Ile18Thr) c.332T>C (p.Ile111Thr) c.383T>C (p.Ile128Thr) c.*365T>C (n.*365T>C) | |
| 4 | g.99583426T>G | CA357502159 | MTTP | c.302T>G (p.Ile101Ser) c.53T>G (p.Ile18Ser) c.332T>G (p.Ile111Ser) c.383T>G (p.Ile128Ser) c.*365T>G (n.*365T>G) | |
| 4 | g.99583427C>A | CA440328607 | MTTP | c.303C>A (p.Ile101=) c.54C>A (p.Ile18=) c.333C>A (p.Ile111=) c.384C>A (p.Ile128=) c.*366C>A (n.*366C>A) | COSMIC |
| 4 | g.99583427C= | CA1480066711 | MTTP | c.303C= (p.Ile101=) c.54C= (p.Ile18=) c.333C= (p.Ile111=) c.384C= (p.Ile128=) c.*366C= (n.*366C=) | |
| 4 | g.99583427C>G | CA357502163 | MTTP | c.303C>G (p.Ile101Met) c.54C>G (p.Ile18Met) c.333C>G (p.Ile111Met) c.384C>G (p.Ile128Met) c.*366C>G (n.*366C>G) | |
| 4 | g.99583427C>T | CA3021800 | MTTP | c.303C>T (p.Ile101=) c.54C>T (p.Ile18=) c.333C>T (p.Ile111=) c.384C>T (p.Ile128=) c.*366C>T (n.*366C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583428T>A | CA357502165 | MTTP | c.304T>A (p.Phe102Ile) c.55T>A (p.Phe19Ile) c.334T>A (p.Phe112Ile) c.385T>A (p.Phe129Ile) c.*367T>A (n.*367T>A) | |
| 4 | g.99583428T>C | CA357502167 | MTTP | c.304T>C (p.Phe102Leu) c.55T>C (p.Phe19Leu) c.334T>C (p.Phe112Leu) c.385T>C (p.Phe129Leu) c.*367T>C (n.*367T>C) | |
| 4 | g.99583428T>G | CA357502169 | MTTP | c.304T>G (p.Phe102Val) c.55T>G (p.Phe19Val) c.334T>G (p.Phe112Val) c.385T>G (p.Phe129Val) c.*367T>G (n.*367T>G) | COSMIC |
| 4 | g.99583429T>A | CA357502171 | MTTP | c.305T>A (p.Phe102Tyr) c.56T>A (p.Phe19Tyr) c.335T>A (p.Phe112Tyr) c.386T>A (p.Phe129Tyr) c.*368T>A (n.*368T>A) | |
| 4 | g.99583429T>C | CA357502173 | MTTP | c.305T>C (p.Phe102Ser) c.56T>C (p.Phe19Ser) c.335T>C (p.Phe112Ser) c.386T>C (p.Phe129Ser) c.*368T>C (n.*368T>C) | |
| 4 | g.99583429T>G | CA357502175 | MTTP | c.305T>G (p.Phe102Cys) c.56T>G (p.Phe19Cys) c.335T>G (p.Phe112Cys) c.386T>G (p.Phe129Cys) c.*368T>G (n.*368T>G) | |
| 4 | g.99583430C>A | CA357502176 | MTTP | c.306C>A (p.Phe102Leu) c.57C>A (p.Phe19Leu) c.336C>A (p.Phe112Leu) c.387C>A (p.Phe129Leu) c.*369C>A (n.*369C>A) | |
| 4 | g.99583430C>G | CA357502178 | MTTP | c.306C>G (p.Phe102Leu) c.57C>G (p.Phe19Leu) c.336C>G (p.Phe112Leu) c.387C>G (p.Phe129Leu) c.*369C>G (n.*369C>G) | |
| 4 | g.99583430C>T | CA440328608 | MTTP | c.306C>T (p.Phe102=) c.57C>T (p.Phe19=) c.336C>T (p.Phe112=) c.387C>T (p.Phe129=) c.*369C>T (n.*369C>T) | |
| 4 | g.99583431A= | CA1480066716 | MTTP | c.307A= (p.Lys103=) c.58A= (p.Lys20=) c.337A= (p.Lys113=) c.388A= (p.Lys130=) c.*370A= (n.*370A=) | |
| 4 | g.99583431A>C | CA357502180 | MTTP | c.307A>C (p.Lys103Gln) c.58A>C (p.Lys20Gln) c.337A>C (p.Lys113Gln) c.388A>C (p.Lys130Gln) c.*370A>C (n.*370A>C) | |
| 4 | g.99583431A>G | CA357502182 | MTTP | c.307A>G (p.Lys103Glu) c.58A>G (p.Lys20Glu) c.337A>G (p.Lys113Glu) c.388A>G (p.Lys130Glu) c.*370A>G (n.*370A>G) | |
| 4 | g.99583431A>T | CA357502184 | MTTP | c.307A>T (p.Lys103Ter) c.58A>T (p.Lys20Ter) c.337A>T (p.Lys113Ter) c.388A>T (p.Lys130Ter) c.*370A>T (n.*370A>T) | ClinVar dbSNP |
| 4 | g.99583432A>C | CA357502187 | MTTP | c.308A>C (p.Lys103Thr) c.59A>C (p.Lys20Thr) c.338A>C (p.Lys113Thr) c.389A>C (p.Lys130Thr) c.*371A>C (n.*371A>C) | |
| 4 | g.99583432A>G | CA357502188 | MTTP | c.308A>G (p.Lys103Arg) c.59A>G (p.Lys20Arg) c.338A>G (p.Lys113Arg) c.389A>G (p.Lys130Arg) c.*371A>G (n.*371A>G) | gnomAD v4 |
| 4 | g.99583432A>T | CA357502186 | MTTP | c.308A>T (p.Lys103Ile) c.59A>T (p.Lys20Ile) c.338A>T (p.Lys113Ile) c.389A>T (p.Lys130Ile) c.*371A>T (n.*371A>T) | |
| 4 | g.99583433A>C | CA357502192 | MTTP | c.309A>C (p.Lys103Asn) c.60A>C (p.Lys20Asn) c.339A>C (p.Lys113Asn) c.390A>C (p.Lys130Asn) c.*372A>C (n.*372A>C) | |
| 4 | g.99583433A>G | CA440328609 | MTTP | c.309A>G (p.Lys103=) c.60A>G (p.Lys20=) c.339A>G (p.Lys113=) c.390A>G (p.Lys130=) c.*372A>G (n.*372A>G) | |
| 4 | g.99583433A>T | CA357502190 | MTTP | c.309A>T (p.Lys103Asn) c.60A>T (p.Lys20Asn) c.339A>T (p.Lys113Asn) c.390A>T (p.Lys130Asn) c.*372A>T (n.*372A>T) | |
| 4 | g.99583433_99583434delinsAG | CA1480066722 | MTTP | c.309_310delinsAG (p.Lys103=) c.60_61delinsAG (p.Lys20=) c.339_340delinsAG (p.Lys113=) c.390_391delinsAG (p.Lys130=) c.*372_*373delinsAG (n.*372_*373delinsAG) | |
| 4 | g.99583434G>A | CA357502195 | MTTP | c.310G>A (p.Gly104Arg) c.61G>A (p.Gly21Arg) c.340G>A (p.Gly114Arg) c.391G>A (p.Gly131Arg) c.*373G>A (n.*373G>A) | |
| 4 | g.99583434G>C | CA3021801 | MTTP | c.310G>C (p.Gly104Arg) c.61G>C (p.Gly21Arg) c.340G>C (p.Gly114Arg) c.391G>C (p.Gly131Arg) c.*373G>C (n.*373G>C) | dbSNP ExAC gnomAD v2 |
| 4 | g.99583434G= | CA1480066725 | MTTP | c.310G= (p.Gly104=) c.61G= (p.Gly21=) c.340G= (p.Gly114=) c.391G= (p.Gly131=) c.*373G= (n.*373G=) | |
| 4 | g.99583434G>T | CA357502198 | MTTP | c.310G>T (p.Gly104Ter) c.61G>T (p.Gly21Ter) c.340G>T (p.Gly114Ter) c.391G>T (p.Gly131Ter) c.*373G>T (n.*373G>T) | |
| 4 | g.99583435del | CA553568446 | MTTP | c.311del (p.Gly104GlufsTer7) c.62del (p.Gly21GlufsTer7) c.341del (p.Gly114GlufsTer7) c.392del (p.Gly131GlufsTer7) c.*374del (n.*374del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583435G>A | CA357502199 | MTTP | c.311G>A (p.Gly104Glu) c.62G>A (p.Gly21Glu) c.341G>A (p.Gly114Glu) c.392G>A (p.Gly131Glu) c.*374G>A (n.*374G>A) | COSMIC |
| 4 | g.99583435G>C | CA357502202 | MTTP | c.311G>C (p.Gly104Ala) c.62G>C (p.Gly21Ala) c.341G>C (p.Gly114Ala) c.392G>C (p.Gly131Ala) c.*374G>C (n.*374G>C) | |
| 4 | g.99583435G>T | CA357502201 | MTTP | c.311G>T (p.Gly104Val) c.62G>T (p.Gly21Val) c.341G>T (p.Gly114Val) c.392G>T (p.Gly131Val) c.*374G>T (n.*374G>T) | |
| 4 | g.99583436A>C | CA440328610 | MTTP | c.312A>C (p.Gly104=) c.63A>C (p.Gly21=) c.342A>C (p.Gly114=) c.393A>C (p.Gly131=) c.*375A>C (n.*375A>C) | |
| 4 | g.99583436A>G | CA440328612 | MTTP | c.312A>G (p.Gly104=) c.63A>G (p.Gly21=) c.342A>G (p.Gly114=) c.393A>G (p.Gly131=) c.*375A>G (n.*375A>G) | gnomAD v4 |
| 4 | g.99583436A>T | CA440328611 | MTTP | c.312A>T (p.Gly104=) c.63A>T (p.Gly21=) c.342A>T (p.Gly114=) c.393A>T (p.Gly131=) c.*375A>T (n.*375A>T) | |
| 4 | g.99583440dup | CA2580071897 | MTTP | c.316dup (p.Ser106LysfsTer4) c.67dup (p.Ser23LysfsTer4) c.346dup (p.Ser116LysfsTer4) c.397dup (p.Ser133LysfsTer4) c.*379dup (n.*379dup) | ClinVar |
| 4 | g.99583440del | CA2507939707 | MTTP | c.316del (p.Ser106AlafsTer5) c.67del (p.Ser23AlafsTer5) c.346del (p.Ser116AlafsTer5) c.397del (p.Ser133AlafsTer5) c.*379del (n.*379del) | |
| 4 | g.99583437A>C | CA357502204 | MTTP | c.313A>C (p.Lys105Gln) c.64A>C (p.Lys22Gln) c.343A>C (p.Lys115Gln) c.394A>C (p.Lys132Gln) c.*376A>C (n.*376A>C) | |
| 4 | g.99583437A>G | CA357502207 | MTTP | c.313A>G (p.Lys105Glu) c.64A>G (p.Lys22Glu) c.343A>G (p.Lys115Glu) c.394A>G (p.Lys132Glu) c.*376A>G (n.*376A>G) | |
| 4 | g.99583437A>T | CA357502205 | MTTP | c.313A>T (p.Lys105Ter) c.64A>T (p.Lys22Ter) c.343A>T (p.Lys115Ter) c.394A>T (p.Lys132Ter) c.*376A>T (n.*376A>T) | |
| 4 | g.99583438A>C | CA357502209 | MTTP | c.314A>C (p.Lys105Thr) c.65A>C (p.Lys22Thr) c.344A>C (p.Lys115Thr) c.395A>C (p.Lys132Thr) c.*377A>C (n.*377A>C) | |
| 4 | g.99583438A>G | CA357502211 | MTTP | c.314A>G (p.Lys105Arg) c.65A>G (p.Lys22Arg) c.344A>G (p.Lys115Arg) c.395A>G (p.Lys132Arg) c.*377A>G (n.*377A>G) | |
| 4 | g.99583438A>T | CA357502210 | MTTP | c.314A>T (p.Lys105Ile) c.65A>T (p.Lys22Ile) c.344A>T (p.Lys115Ile) c.395A>T (p.Lys132Ile) c.*377A>T (n.*377A>T) | |
| 4 | g.99583439A>C | CA357502213 | MTTP | c.315A>C (p.Lys105Asn) c.66A>C (p.Lys22Asn) c.345A>C (p.Lys115Asn) c.396A>C (p.Lys132Asn) c.*378A>C (n.*378A>C) | |
| 4 | g.99583439A>G | CA440328613 | MTTP | c.315A>G (p.Lys105=) c.66A>G (p.Lys22=) c.345A>G (p.Lys115=) c.396A>G (p.Lys132=) c.*378A>G (n.*378A>G) | |
| 4 | g.99583439A>T | CA357502216 | MTTP | c.315A>T (p.Lys105Asn) c.66A>T (p.Lys22Asn) c.345A>T (p.Lys115Asn) c.396A>T (p.Lys132Asn) c.*378A>T (n.*378A>T) | |
| 4 | g.99583440A>C | CA357502218 | MTTP | c.316A>C (p.Ser106Arg) c.67A>C (p.Ser23Arg) c.346A>C (p.Ser116Arg) c.397A>C (p.Ser133Arg) c.*379A>C (n.*379A>C) | gnomAD v4 |
| 4 | g.99583440A>G | CA357502219 | MTTP | c.316A>G (p.Ser106Gly) c.67A>G (p.Ser23Gly) c.346A>G (p.Ser116Gly) c.397A>G (p.Ser133Gly) c.*379A>G (n.*379A>G) | gnomAD v4 |
| 4 | g.99583440A>T | CA357502221 | MTTP | c.316A>T (p.Ser106Cys) c.67A>T (p.Ser23Cys) c.346A>T (p.Ser116Cys) c.397A>T (p.Ser133Cys) c.*379A>T (n.*379A>T) | |
| 4 | g.99583441G>A | CA357502223 | MTTP | c.317G>A (p.Ser106Asn) c.68G>A (p.Ser23Asn) c.347G>A (p.Ser116Asn) c.398G>A (p.Ser133Asn) c.*380G>A (n.*380G>A) | |
| 4 | g.99583441G>C | CA357502224 | MTTP | c.317G>C (p.Ser106Thr) c.68G>C (p.Ser23Thr) c.347G>C (p.Ser116Thr) c.398G>C (p.Ser133Thr) c.*380G>C (n.*380G>C) | dbSNP |
| 4 | g.99583441G= | CA1480066728 | MTTP | c.317G= (p.Ser106=) c.68G= (p.Ser23=) c.347G= (p.Ser116=) c.398G= (p.Ser133=) c.*380G= (n.*380G=) | |
| 4 | g.99583441G>T | CA3021802 | MTTP | c.317G>T (p.Ser106Ile) c.68G>T (p.Ser23Ile) c.347G>T (p.Ser116Ile) c.398G>T (p.Ser133Ile) c.*380G>T (n.*380G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583442C>A | CA357502227 | MTTP | c.318C>A (p.Ser106Arg) c.69C>A (p.Ser23Arg) c.348C>A (p.Ser116Arg) c.399C>A (p.Ser133Arg) c.*381C>A (n.*381C>A) | |
| 4 | g.99583442C= | CA1480066731 | MTTP | c.318C= (p.Ser106=) c.69C= (p.Ser23=) c.348C= (p.Ser116=) c.399C= (p.Ser133=) c.*381C= (n.*381C=) | |
| 4 | g.99583442C>G | CA357502228 | MTTP | c.318C>G (p.Ser106Arg) c.69C>G (p.Ser23Arg) c.348C>G (p.Ser116Arg) c.399C>G (p.Ser133Arg) c.*381C>G (n.*381C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583442C>T | CA440328614 | MTTP | c.318C>T (p.Ser106=) c.69C>T (p.Ser23=) c.348C>T (p.Ser116=) c.399C>T (p.Ser133=) c.*381C>T (n.*381C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583443C>A | CA357502234 | MTTP | c.319C>A (p.Pro107Thr) c.70C>A (p.Pro24Thr) c.349C>A (p.Pro117Thr) c.400C>A (p.Pro134Thr) c.*382C>A (n.*382C>A) | |
| 4 | g.99583443C>G | CA357502230 | MTTP | c.319C>G (p.Pro107Ala) c.70C>G (p.Pro24Ala) c.349C>G (p.Pro117Ala) c.400C>G (p.Pro134Ala) c.*382C>G (n.*382C>G) | |
| 4 | g.99583443C>T | CA357502232 | MTTP | c.319C>T (p.Pro107Ser) c.70C>T (p.Pro24Ser) c.349C>T (p.Pro117Ser) c.400C>T (p.Pro134Ser) c.*382C>T (n.*382C>T) | |
| 4 | g.99583444C>A | CA357502236 | MTTP | c.320C>A (p.Pro107Gln) c.71C>A (p.Pro24Gln) c.350C>A (p.Pro117Gln) c.401C>A (p.Pro134Gln) c.*383C>A (n.*383C>A) | gnomAD v4 |
| 4 | g.99583444C= | CA1480066732 | MTTP | c.320C= (p.Pro107=) c.71C= (p.Pro24=) c.350C= (p.Pro117=) c.401C= (p.Pro134=) c.*383C= (n.*383C=) | |
| 4 | g.99583444C>G | CA357502238 | MTTP | c.320C>G (p.Pro107Arg) c.71C>G (p.Pro24Arg) c.350C>G (p.Pro117Arg) c.401C>G (p.Pro134Arg) c.*383C>G (n.*383C>G) | |
| 4 | g.99583444C>T | CA3021803 | MTTP | c.320C>T (p.Pro107Leu) c.71C>T (p.Pro24Leu) c.350C>T (p.Pro117Leu) c.401C>T (p.Pro134Leu) c.*383C>T (n.*383C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583445_99583446insAACACACCCAACACA | CA2762811581 | MTTP | c.321_322insAACACACCCAACACA (p.Pro107_Ser108insAsnThrProAsnThr) c.72_73insAACACACCCAACACA (p.Pro24_Ser25insAsnThrProAsnThr) c.351_352insAACACACCCAACACA (p.Pro117_Ser118insAsnThrProAsnThr) c.402_403insAACACACCCAACACA (p.Pro134_Ser135insAsnThrProAsnThr) c.*384_*385insAACACACCCAACACA (n.*384_*385insAACACACCCAACACA) | |
| 4 | g.99583445A>C | CA440328615 | MTTP | c.321A>C (p.Pro107=) c.72A>C (p.Pro24=) c.351A>C (p.Pro117=) c.402A>C (p.Pro134=) c.*384A>C (n.*384A>C) | |
| 4 | g.99583445A>G | CA440328616 | MTTP | c.321A>G (p.Pro107=) c.72A>G (p.Pro24=) c.351A>G (p.Pro117=) c.402A>G (p.Pro134=) c.*384A>G (n.*384A>G) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99583445A>T | CA440328617 | MTTP | c.321A>T (p.Pro107=) c.72A>T (p.Pro24=) c.351A>T (p.Pro117=) c.402A>T (p.Pro134=) c.*384A>T (n.*384A>T) | |
| 4 | g.99583446T>A | CA357502241 | MTTP | c.322T>A (p.Ser108Thr) c.73T>A (p.Ser25Thr) c.352T>A (p.Ser118Thr) c.403T>A (p.Ser135Thr) c.*385T>A (n.*385T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583446T>C | CA357502243 | MTTP | c.322T>C (p.Ser108Pro) c.73T>C (p.Ser25Pro) c.352T>C (p.Ser118Pro) c.403T>C (p.Ser135Pro) c.*385T>C (n.*385T>C) | |
| 4 | g.99583446T>G | CA357502245 | MTTP | c.322T>G (p.Ser108Ala) c.73T>G (p.Ser25Ala) c.352T>G (p.Ser118Ala) c.403T>G (p.Ser135Ala) c.*385T>G (n.*385T>G) | |
| 4 | g.99583446T= | CA1480066733 | MTTP | c.322T= (p.Ser108=) c.73T= (p.Ser25=) c.352T= (p.Ser118=) c.403T= (p.Ser135=) c.*385T= (n.*385T=) | |
| 4 | g.99583447C>A | CA357502247 | MTTP | c.323C>A (p.Ser108Tyr) c.74C>A (p.Ser25Tyr) c.353C>A (p.Ser118Tyr) c.404C>A (p.Ser135Tyr) c.*386C>A (n.*386C>A) | |
| 4 | g.99583447C>G | CA357502249 | MTTP | c.323C>G (p.Ser108Cys) c.74C>G (p.Ser25Cys) c.353C>G (p.Ser118Cys) c.404C>G (p.Ser135Cys) c.*386C>G (n.*386C>G) | |
| 4 | g.99583447C>T | CA357502251 | MTTP | c.323C>T (p.Ser108Phe) c.74C>T (p.Ser25Phe) c.353C>T (p.Ser118Phe) c.404C>T (p.Ser135Phe) c.*386C>T (n.*386C>T) | |
| 4 | g.99583448T>A | CA440328618 | MTTP | c.324T>A (p.Ser108=) c.75T>A (p.Ser25=) c.354T>A (p.Ser118=) c.405T>A (p.Ser135=) c.*387T>A (n.*387T>A) | |
| 4 | g.99583448T>C | CA3021804 | MTTP | c.324T>C (p.Ser108=) c.75T>C (p.Ser25=) c.354T>C (p.Ser118=) c.405T>C (p.Ser135=) c.*387T>C (n.*387T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583448T>G | CA440328619 | MTTP | c.324T>G (p.Ser108=) c.75T>G (p.Ser25=) c.354T>G (p.Ser118=) c.405T>G (p.Ser135=) c.*387T>G (n.*387T>G) | gnomAD v4 |
| 4 | g.99583448T= | CA1480066734 | MTTP | c.324T= (p.Ser108=) c.75T= (p.Ser25=) c.354T= (p.Ser118=) c.405T= (p.Ser135=) c.*387T= (n.*387T=) | |
| 4 | g.99583449A>C | CA357502257 | MTTP | c.325A>C (p.Lys109Gln) c.76A>C (p.Lys26Gln) c.355A>C (p.Lys119Gln) c.406A>C (p.Lys136Gln) c.*388A>C (n.*388A>C) | |
| 4 | g.99583449A>G | CA357502259 | MTTP | c.325A>G (p.Lys109Glu) c.76A>G (p.Lys26Glu) c.355A>G (p.Lys119Glu) c.406A>G (p.Lys136Glu) c.*388A>G (n.*388A>G) | |
| 4 | g.99583449A>T | CA357502254 | MTTP | c.325A>T (p.Lys109Ter) c.76A>T (p.Lys26Ter) c.355A>T (p.Lys119Ter) c.406A>T (p.Lys136Ter) c.*388A>T (n.*388A>T) | |
| 4 | g.99583450A= | CA1480066735 | MTTP | c.326A= (p.Lys109=) c.77A= (p.Lys26=) c.356A= (p.Lys119=) c.407A= (p.Lys136=) c.*389A= (n.*389A=) | |
| 4 | g.99583450A>C | CA357502261 | MTTP | c.326A>C (p.Lys109Thr) c.77A>C (p.Lys26Thr) c.356A>C (p.Lys119Thr) c.407A>C (p.Lys136Thr) c.*389A>C (n.*389A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583450A>G | CA357502262 | MTTP | c.326A>G (p.Lys109Arg) c.77A>G (p.Lys26Arg) c.356A>G (p.Lys119Arg) c.407A>G (p.Lys136Arg) c.*389A>G (n.*389A>G) | |
| 4 | g.99583450A>T | CA357502264 | MTTP | c.326A>T (p.Lys109Ile) c.77A>T (p.Lys26Ile) c.356A>T (p.Lys119Ile) c.407A>T (p.Lys136Ile) c.*389A>T (n.*389A>T) | |
| 4 | g.99583451A>C | CA357502265 | MTTP | c.327A>C (p.Lys109Asn) c.78A>C (p.Lys26Asn) c.357A>C (p.Lys119Asn) c.408A>C (p.Lys136Asn) c.*390A>C (n.*390A>C) | |
| 4 | g.99583451A>G | CA440328620 | MTTP | c.327A>G (p.Lys109=) c.78A>G (p.Lys26=) c.357A>G (p.Lys119=) c.408A>G (p.Lys136=) c.*390A>G (n.*390A>G) | |
| 4 | g.99583451A>T | CA357502266 | MTTP | c.327A>T (p.Lys109Asn) c.78A>T (p.Lys26Asn) c.357A>T (p.Lys119Asn) c.408A>T (p.Lys136Asn) c.*390A>T (n.*390A>T) | |
| 4 | g.99583452A>C | CA357502268 | MTTP | c.328A>C (p.Ile110Leu) c.79A>C (p.Ile27Leu) c.358A>C (p.Ile120Leu) c.409A>C (p.Ile137Leu) c.*391A>C (n.*391A>C) | |
| 4 | g.99583452A>G | CA357502270 | MTTP | c.328A>G (p.Ile110Val) c.79A>G (p.Ile27Val) c.358A>G (p.Ile120Val) c.409A>G (p.Ile137Val) c.*391A>G (n.*391A>G) | gnomAD v4 |
| 4 | g.99583452A>T | CA357502272 | MTTP | c.328A>T (p.Ile110Leu) c.79A>T (p.Ile27Leu) c.358A>T (p.Ile120Leu) c.409A>T (p.Ile137Leu) c.*391A>T (n.*391A>T) | gnomAD v4 |
| 4 | g.99583453T>A | CA357502274 | MTTP | c.329T>A (p.Ile110Lys) c.80T>A (p.Ile27Lys) c.359T>A (p.Ile120Lys) c.410T>A (p.Ile137Lys) c.*392T>A (n.*392T>A) | |
| 4 | g.99583453T>C | CA357502276 | MTTP | c.329T>C (p.Ile110Thr) c.80T>C (p.Ile27Thr) c.359T>C (p.Ile120Thr) c.410T>C (p.Ile137Thr) c.*392T>C (n.*392T>C) | gnomAD v4 |
| 4 | g.99583453T>G | CA357502278 | MTTP | c.329T>G (p.Ile110Arg) c.80T>G (p.Ile27Arg) c.359T>G (p.Ile120Arg) c.410T>G (p.Ile137Arg) c.*392T>G (n.*392T>G) | |
| 4 | g.99583454A>C | CA440328621 | MTTP | c.330A>C (p.Ile110=) c.81A>C (p.Ile27=) c.360A>C (p.Ile120=) c.411A>C (p.Ile137=) c.*393A>C (n.*393A>C) | |
| 4 | g.99583454A>G | CA357502279 | MTTP | c.330A>G (p.Ile110Met) c.81A>G (p.Ile27Met) c.360A>G (p.Ile120Met) c.411A>G (p.Ile137Met) c.*393A>G (n.*393A>G) | |
| 4 | g.99583454A>T | CA440328622 | MTTP | c.330A>T (p.Ile110=) c.81A>T (p.Ile27=) c.360A>T (p.Ile120=) c.411A>T (p.Ile137=) c.*393A>T (n.*393A>T) | |
| 4 | g.99583455A>C | CA357502286 | MTTP | c.331A>C (p.Met111Leu) c.82A>C (p.Met28Leu) c.361A>C (p.Met121Leu) c.412A>C (p.Met138Leu) c.*394A>C (n.*394A>C) | |
| 4 | g.99583455A>G | CA357502282 | MTTP | c.331A>G (p.Met111Val) c.82A>G (p.Met28Val) c.361A>G (p.Met121Val) c.412A>G (p.Met138Val) c.*394A>G (n.*394A>G) | |
| 4 | g.99583455A>T | CA357502284 | MTTP | c.331A>T (p.Met111Leu) c.82A>T (p.Met28Leu) c.361A>T (p.Met121Leu) c.412A>T (p.Met138Leu) c.*394A>T (n.*394A>T) | COSMIC |
| 4 | g.99583456T>A | CA357502287 | MTTP | c.332T>A (p.Met111Lys) c.83T>A (p.Met28Lys) c.362T>A (p.Met121Lys) c.413T>A (p.Met138Lys) c.*395T>A (n.*395T>A) | |
| 4 | g.99583456T>C | CA357502289 | MTTP | c.332T>C (p.Met111Thr) c.83T>C (p.Met28Thr) c.362T>C (p.Met121Thr) c.413T>C (p.Met138Thr) c.*395T>C (n.*395T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583456T>G | CA357502291 | MTTP | c.332T>G (p.Met111Arg) c.83T>G (p.Met28Arg) c.362T>G (p.Met121Arg) c.413T>G (p.Met138Arg) c.*395T>G (n.*395T>G) | |
| 4 | g.99583456T= | CA1480066736 | MTTP | c.332T= (p.Met111=) c.83T= (p.Met28=) c.362T= (p.Met121=) c.413T= (p.Met138=) c.*395T= (n.*395T=) | |
| 4 | g.99583457G>A | CA357502293 | MTTP | c.333G>A (p.Met111Ile) c.84G>A (p.Met28Ile) c.363G>A (p.Met121Ile) c.414G>A (p.Met138Ile) c.*396G>A (n.*396G>A) | gnomAD v4 |
| 4 | g.99583457G>C | CA357502295 | MTTP | c.333G>C (p.Met111Ile) c.84G>C (p.Met28Ile) c.363G>C (p.Met121Ile) c.414G>C (p.Met138Ile) c.*396G>C (n.*396G>C) | |
| 4 | g.99583457G>T | CA357502297 | MTTP | c.333G>T (p.Met111Ile) c.84G>T (p.Met28Ile) c.363G>T (p.Met121Ile) c.414G>T (p.Met138Ile) c.*396G>T (n.*396G>T) | |
| 4 | g.99583458G>A | CA357502300 | MTTP | c.334G>A (p.Gly112Arg) c.85G>A (p.Gly29Arg) c.364G>A (p.Gly122Arg) c.415G>A (p.Gly139Arg) c.*397G>A (n.*397G>A) | gnomAD v4 |
| 4 | g.99583458G>C | CA357502302 | MTTP | c.334G>C (p.Gly112Arg) c.85G>C (p.Gly29Arg) c.364G>C (p.Gly122Arg) c.415G>C (p.Gly139Arg) c.*397G>C (n.*397G>C) | |
| 4 | g.99583458G>T | CA357502304 | MTTP | c.334G>T (p.Gly112Ter) c.85G>T (p.Gly29Ter) c.364G>T (p.Gly122Ter) c.415G>T (p.Gly139Ter) c.*397G>T (n.*397G>T) | ClinVar |
| 4 | g.99583459G>A | CA357502305 | MTTP | c.335G>A (p.Gly112Glu) c.86G>A (p.Gly29Glu) c.365G>A (p.Gly122Glu) c.416G>A (p.Gly139Glu) c.*398G>A (n.*398G>A) | |
| 4 | g.99583459G>C | CA357502306 | MTTP | c.335G>C (p.Gly112Ala) c.86G>C (p.Gly29Ala) c.365G>C (p.Gly122Ala) c.416G>C (p.Gly139Ala) c.*398G>C (n.*398G>C) | gnomAD v4 |
| 4 | g.99583459G>T | CA357502307 | MTTP | c.335G>T (p.Gly112Val) c.86G>T (p.Gly29Val) c.365G>T (p.Gly122Val) c.416G>T (p.Gly139Val) c.*398G>T (n.*398G>T) | gnomAD v4 |
| 4 | g.99583460A= | CA1480066737 | MTTP | c.336A= (p.Gly112=) c.87A= (p.Gly29=) c.366A= (p.Gly122=) c.417A= (p.Gly139=) c.*399A= (n.*399A=) | |
| 4 | g.99583460A>C | CA440328624 | MTTP | c.336A>C (p.Gly112=) c.87A>C (p.Gly29=) c.366A>C (p.Gly122=) c.417A>C (p.Gly139=) c.*399A>C (n.*399A>C) | |
| 4 | g.99583460A>G | CA440328625 | MTTP | c.336A>G (p.Gly112=) c.87A>G (p.Gly29=) c.366A>G (p.Gly122=) c.417A>G (p.Gly139=) c.*399A>G (n.*399A>G) | dbSNP |
| 4 | g.99583460A>T | CA440328626 | MTTP | c.336A>T (p.Gly112=) c.87A>T (p.Gly29=) c.366A>T (p.Gly122=) c.417A>T (p.Gly139=) c.*399A>T (n.*399A>T) | gnomAD v4 |
| 4 | g.99583461A>C | CA357502313 | MTTP | c.337A>C (p.Lys113Gln) c.88A>C (p.Lys30Gln) c.367A>C (p.Lys123Gln) c.418A>C (p.Lys140Gln) c.*400A>C (n.*400A>C) | |
| 4 | g.99583461A>G | CA357502311 | MTTP | c.337A>G (p.Lys113Glu) c.88A>G (p.Lys30Glu) c.367A>G (p.Lys123Glu) c.418A>G (p.Lys140Glu) c.*400A>G (n.*400A>G) | |
| 4 | g.99583461A>T | CA357502309 | MTTP | c.337A>T (p.Lys113Ter) c.88A>T (p.Lys30Ter) c.367A>T (p.Lys123Ter) c.418A>T (p.Lys140Ter) c.*400A>T (n.*400A>T) | |
| 4 | g.99583462A>C | CA357502315 | MTTP | c.338A>C (p.Lys113Thr) c.89A>C (p.Lys30Thr) c.368A>C (p.Lys123Thr) c.419A>C (p.Lys140Thr) c.*401A>C (n.*401A>C) | |
| 4 | g.99583462A>G | CA357502317 | MTTP | c.338A>G (p.Lys113Arg) c.89A>G (p.Lys30Arg) c.368A>G (p.Lys123Arg) c.419A>G (p.Lys140Arg) c.*401A>G (n.*401A>G) | |
| 4 | g.99583462A>T | CA357502319 | MTTP | c.338A>T (p.Lys113Met) c.89A>T (p.Lys30Met) c.368A>T (p.Lys123Met) c.419A>T (p.Lys140Met) c.*401A>T (n.*401A>T) | |
| 4 | g.99583463G>A | CA440328627 | MTTP | c.339G>A (p.Lys113=) c.90G>A (p.Lys30=) c.369G>A (p.Lys123=) c.420G>A (p.Lys140=) c.*402G>A (n.*402G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583463G>C | CA357502321 | MTTP | c.339G>C (p.Lys113Asn) c.90G>C (p.Lys30Asn) c.369G>C (p.Lys123Asn) c.420G>C (p.Lys140Asn) c.*402G>C (n.*402G>C) | |
| 4 | g.99583463G= | CA1480066738 | MTTP | c.339G= (p.Lys113=) c.90G= (p.Lys30=) c.369G= (p.Lys123=) c.420G= (p.Lys140=) c.*402G= (n.*402G=) | |
| 4 | g.99583463G>T | CA357502322 | MTTP | c.339G>T (p.Lys113Asn) c.90G>T (p.Lys30Asn) c.369G>T (p.Lys123Asn) c.420G>T (p.Lys140Asn) c.*402G>T (n.*402G>T) | |
| 4 | g.99583464G>A | CA357502323 | MTTP | c.340G>A (p.Glu114Lys) c.91G>A (p.Glu31Lys) c.370G>A (p.Glu124Lys) c.421G>A (p.Glu141Lys) c.*403G>A (n.*403G>A) | COSMIC |
| 4 | g.99583464G>C | CA357502325 | MTTP | c.340G>C (p.Glu114Gln) c.91G>C (p.Glu31Gln) c.370G>C (p.Glu124Gln) c.421G>C (p.Glu141Gln) c.*403G>C (n.*403G>C) | |
| 4 | g.99583464G>T | CA357502327 | MTTP | c.340G>T (p.Glu114Ter) c.91G>T (p.Glu31Ter) c.370G>T (p.Glu124Ter) c.421G>T (p.Glu141Ter) c.*403G>T (n.*403G>T) | |
| 4 | g.99583465A= | CA1480066739 | MTTP | c.341A= (p.Glu114=) c.92A= (p.Glu31=) c.371A= (p.Glu124=) c.422A= (p.Glu141=) c.*404A= (n.*404A=) | |
| 4 | g.99583465A>C | CA357502329 | MTTP | c.341A>C (p.Glu114Ala) c.92A>C (p.Glu31Ala) c.371A>C (p.Glu124Ala) c.422A>C (p.Glu141Ala) c.*404A>C (n.*404A>C) | |
| 4 | g.99583465A>G | CA102617567 | MTTP | c.341A>G (p.Glu114Gly) c.92A>G (p.Glu31Gly) c.371A>G (p.Glu124Gly) c.422A>G (p.Glu141Gly) c.*404A>G (n.*404A>G) | ClinVar dbSNP |
| 4 | g.99583465A>T | CA357502332 | MTTP | c.341A>T (p.Glu114Val) c.92A>T (p.Glu31Val) c.371A>T (p.Glu124Val) c.422A>T (p.Glu141Val) c.*404A>T (n.*404A>T) | |
| 4 | g.99583466A>C | CA357502334 | MTTP | c.342A>C (p.Glu114Asp) c.93A>C (p.Glu31Asp) c.372A>C (p.Glu124Asp) c.423A>C (p.Glu141Asp) c.*405A>C (n.*405A>C) | |
| 4 | g.99583466A>G | CA440328628 | MTTP | c.342A>G (p.Glu114=) c.93A>G (p.Glu31=) c.372A>G (p.Glu124=) c.423A>G (p.Glu141=) c.*405A>G (n.*405A>G) | |
| 4 | g.99583466A>T | CA357502336 | MTTP | c.342A>T (p.Glu114Asp) c.93A>T (p.Glu31Asp) c.372A>T (p.Glu124Asp) c.423A>T (p.Glu141Asp) c.*405A>T (n.*405A>T) | |
| 4 | g.99583467A>C | CA357502342 | MTTP | c.343A>C (p.Asn115His) c.94A>C (p.Asn32His) c.373A>C (p.Asn125His) c.424A>C (p.Asn142His) c.*406A>C (n.*406A>C) | |
| 4 | g.99583467A>G | CA357502340 | MTTP | c.343A>G (p.Asn115Asp) c.94A>G (p.Asn32Asp) c.373A>G (p.Asn125Asp) c.424A>G (p.Asn142Asp) c.*406A>G (n.*406A>G) | |
| 4 | g.99583467A>T | CA357502338 | MTTP | c.343A>T (p.Asn115Tyr) c.94A>T (p.Asn32Tyr) c.373A>T (p.Asn125Tyr) c.424A>T (p.Asn142Tyr) c.*406A>T (n.*406A>T) | |
| 4 | g.99583468A>C | CA357502343 | MTTP | c.344A>C (p.Asn115Thr) c.95A>C (p.Asn32Thr) c.374A>C (p.Asn125Thr) c.425A>C (p.Asn142Thr) c.*407A>C (n.*407A>C) | |
| 4 | g.99583468A>G | CA357502345 | MTTP | c.344A>G (p.Asn115Ser) c.95A>G (p.Asn32Ser) c.374A>G (p.Asn125Ser) c.425A>G (p.Asn142Ser) c.*407A>G (n.*407A>G) | |
| 4 | g.99583468A>T | CA357502347 | MTTP | c.344A>T (p.Asn115Ile) c.95A>T (p.Asn32Ile) c.374A>T (p.Asn125Ile) c.425A>T (p.Asn142Ile) c.*407A>T (n.*407A>T) | |
| 4 | g.99583469C>A | CA357502349 | MTTP | c.345C>A (p.Asn115Lys) c.96C>A (p.Asn32Lys) c.375C>A (p.Asn125Lys) c.426C>A (p.Asn142Lys) c.*408C>A (n.*408C>A) | |
| 4 | g.99583469C>G | CA357502350 | MTTP | c.345C>G (p.Asn115Lys) c.96C>G (p.Asn32Lys) c.375C>G (p.Asn125Lys) c.426C>G (p.Asn142Lys) c.*408C>G (n.*408C>G) | |
| 4 | g.99583469C>T | CA440328629 | MTTP | c.345C>T (p.Asn115=) c.96C>T (p.Asn32=) c.375C>T (p.Asn125=) c.426C>T (p.Asn142=) c.*408C>T (n.*408C>T) | |
| 4 | g.99583470T>A | CA357502352 | MTTP | c.346T>A (p.Leu116Met) c.97T>A (p.Leu33Met) c.376T>A (p.Leu126Met) c.427T>A (p.Leu143Met) c.*409T>A (n.*409T>A) | |
| 4 | g.99583470T>C | CA3021805 | MTTP | c.346T>C (p.Leu116=) c.97T>C (p.Leu33=) c.376T>C (p.Leu126=) c.427T>C (p.Leu143=) c.*409T>C (n.*409T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583470T>G | CA357502354 | MTTP | c.346T>G (p.Leu116Val) c.97T>G (p.Leu33Val) c.376T>G (p.Leu126Val) c.427T>G (p.Leu143Val) c.*409T>G (n.*409T>G) | |
| 4 | g.99583470T= | CA1480066740 | MTTP | c.346T= (p.Leu116=) c.97T= (p.Leu33=) c.376T= (p.Leu126=) c.427T= (p.Leu143=) c.*409T= (n.*409T=) | |
| 4 | g.99583471T>A | CA357502356 | MTTP | c.347T>A (p.Leu116Ter) c.98T>A (p.Leu33Ter) c.377T>A (p.Leu126Ter) c.428T>A (p.Leu143Ter) c.*410T>A (n.*410T>A) | |
| 4 | g.99583471T>C | CA3021806 | MTTP | c.347T>C (p.Leu116Ser) c.98T>C (p.Leu33Ser) c.377T>C (p.Leu126Ser) c.428T>C (p.Leu143Ser) c.*410T>C (n.*410T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583471T>G | CA357502359 | MTTP | c.347T>G (p.Leu116Trp) c.98T>G (p.Leu33Trp) c.377T>G (p.Leu126Trp) c.428T>G (p.Leu143Trp) c.*410T>G (n.*410T>G) | |
| 4 | g.99583471T= | CA1480066741 | MTTP | c.347T= (p.Leu116=) c.98T= (p.Leu33=) c.377T= (p.Leu126=) c.428T= (p.Leu143=) c.*410T= (n.*410T=) | |
| 4 | g.99583472G>A | CA440328630 | MTTP | c.348G>A (p.Leu116=) c.99G>A (p.Leu33=) c.378G>A (p.Leu126=) c.429G>A (p.Leu143=) c.*411G>A (n.*411G>A) | |
| 4 | g.99583472G>C | CA357502361 | MTTP | c.348G>C (p.Leu116Phe) c.99G>C (p.Leu33Phe) c.378G>C (p.Leu126Phe) c.429G>C (p.Leu143Phe) c.*411G>C (n.*411G>C) | gnomAD v4 |
| 4 | g.99583472G>T | CA357502362 | MTTP | c.348G>T (p.Leu116Phe) c.99G>T (p.Leu33Phe) c.378G>T (p.Leu126Phe) c.429G>T (p.Leu143Phe) c.*411G>T (n.*411G>T) | dbSNP |
| 4 | g.99583473G>A | CA357502364 | MTTP | c.349G>A (p.Glu117Lys) c.100G>A (p.Glu34Lys) c.379G>A (p.Glu127Lys) c.430G>A (p.Glu144Lys) c.*412G>A (n.*412G>A) | |
| 4 | g.99583473G>C | CA357502366 | MTTP | c.349G>C (p.Glu117Gln) c.100G>C (p.Glu34Gln) c.379G>C (p.Glu127Gln) c.430G>C (p.Glu144Gln) c.*412G>C (n.*412G>C) | gnomAD v4 |
| 4 | g.99583473G>T | CA357502363 | MTTP | c.349G>T (p.Glu117Ter) c.100G>T (p.Glu34Ter) c.379G>T (p.Glu127Ter) c.430G>T (p.Glu144Ter) c.*412G>T (n.*412G>T) | |
| 4 | g.99583474A>C | CA357502369 | MTTP | c.350A>C (p.Glu117Ala) c.101A>C (p.Glu34Ala) c.380A>C (p.Glu127Ala) c.431A>C (p.Glu144Ala) c.*413A>C (n.*413A>C) | |
| 4 | g.99583474A>G | CA357502370 | MTTP | c.350A>G (p.Glu117Gly) c.101A>G (p.Glu34Gly) c.380A>G (p.Glu127Gly) c.431A>G (p.Glu144Gly) c.*413A>G (n.*413A>G) | |
| 4 | g.99583474A>T | CA357502372 | MTTP | c.350A>T (p.Glu117Val) c.101A>T (p.Glu34Val) c.380A>T (p.Glu127Val) c.431A>T (p.Glu144Val) c.*413A>T (n.*413A>T) | |
| 4 | g.99583475A>C | CA357502375 | MTTP | c.351A>C (p.Glu117Asp) c.102A>C (p.Glu34Asp) c.381A>C (p.Glu127Asp) c.432A>C (p.Glu144Asp) | |
| 4 | g.99583475A>G | CA440328631 | MTTP | c.351A>G (p.Glu117=) c.102A>G (p.Glu34=) c.381A>G (p.Glu127=) c.432A>G (p.Glu144=) | dbSNP |
| 4 | g.99583475A>T | CA357502376 | MTTP | c.351A>T (p.Glu117Asp) c.102A>T (p.Glu34Asp) c.381A>T (p.Glu127Asp) c.432A>T (p.Glu144Asp) | |
| 4 | g.99583476G>A | CA357502379 | MTTP | c.352G>A (p.Ala118Thr) c.103G>A (p.Ala35Thr) c.382G>A (p.Ala128Thr) c.433G>A (p.Ala145Thr) | gnomAD v4 |
| 4 | g.99583476G>C | CA357502381 | MTTP | c.352G>C (p.Ala118Pro) c.103G>C (p.Ala35Pro) c.382G>C (p.Ala128Pro) c.433G>C (p.Ala145Pro) | |
| 4 | g.99583476G= | CA1480066742 | MTTP | c.352G= (p.Ala118=) c.103G= (p.Ala35=) c.382G= (p.Ala128=) c.433G= (p.Ala145=) | |
| 4 | g.99583476G>T | CA3021807 | MTTP | c.352G>T (p.Ala118Ser) c.103G>T (p.Ala35Ser) c.382G>T (p.Ala128Ser) c.433G>T (p.Ala145Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.99583477C>A | CA357502384 | MTTP | c.353C>A (p.Ala118Asp) c.104C>A (p.Ala35Asp) c.383C>A (p.Ala128Asp) c.434C>A (p.Ala145Asp) | |
| 4 | g.99583477C>G | CA357502386 | MTTP | c.353C>G (p.Ala118Gly) c.104C>G (p.Ala35Gly) c.383C>G (p.Ala128Gly) c.434C>G (p.Ala145Gly) | |
| 4 | g.99583477C>T | CA357502388 | MTTP | c.353C>T (p.Ala118Val) c.104C>T (p.Ala35Val) c.383C>T (p.Ala128Val) c.434C>T (p.Ala145Val) | |
| 4 | g.99583478T>A | CA440328632 | MTTP | c.354T>A (p.Ala118=) c.105T>A (p.Ala35=) c.384T>A (p.Ala128=) c.435T>A (p.Ala145=) | |
| 4 | g.99583478T>C | CA3021808 | MTTP | c.354T>C (p.Ala118=) c.105T>C (p.Ala35=) c.384T>C (p.Ala128=) c.435T>C (p.Ala145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583478T>G | CA440328633 | MTTP | c.354T>G (p.Ala118=) c.105T>G (p.Ala35=) c.384T>G (p.Ala128=) c.435T>G (p.Ala145=) | |
| 4 | g.99583478T= | CA1480066743 | MTTP | c.354T= (p.Ala118=) c.105T= (p.Ala35=) c.384T= (p.Ala128=) c.435T= (p.Ala145=) | |
| 4 | g.99583479C>A | CA357502394 | MTTP | c.355C>A (p.Leu119Met) c.106C>A (p.Leu36Met) c.385C>A (p.Leu129Met) c.436C>A (p.Leu146Met) | dbSNP COSMIC |
| 4 | g.99583479C= | CA1480066744 | MTTP | c.355C= (p.Leu119=) c.106C= (p.Leu36=) c.385C= (p.Leu129=) c.436C= (p.Leu146=) | |
| 4 | g.99583479C>G | CA357502391 | MTTP | c.355C>G (p.Leu119Val) c.106C>G (p.Leu36Val) c.385C>G (p.Leu129Val) c.436C>G (p.Leu146Val) | |
| 4 | g.99583479C>T | CA440328634 | MTTP | c.355C>T (p.Leu119=) c.106C>T (p.Leu36=) c.385C>T (p.Leu129=) c.436C>T (p.Leu146=) | |
| 4 | g.99583480T>A | CA357502396 | MTTP | c.356T>A (p.Leu119Gln) c.107T>A (p.Leu36Gln) c.386T>A (p.Leu129Gln) c.437T>A (p.Leu146Gln) | |
| 4 | g.99583480T>C | CA357502398 | MTTP | c.356T>C (p.Leu119Pro) c.107T>C (p.Leu36Pro) c.386T>C (p.Leu129Pro) c.437T>C (p.Leu146Pro) | dbSNP gnomAD v4 |
| 4 | g.99583480T>G | CA357502399 | MTTP | c.356T>G (p.Leu119Arg) c.107T>G (p.Leu36Arg) c.386T>G (p.Leu129Arg) c.437T>G (p.Leu146Arg) | |
| 4 | g.99583480T= | CA1480066745 | MTTP | c.356T= (p.Leu119=) c.107T= (p.Leu36=) c.386T= (p.Leu129=) c.437T= (p.Leu146=) | |
| 4 | g.99583481G>A | CA440328635 | MTTP | c.357G>A (p.Leu119=) c.108G>A (p.Leu36=) c.387G>A (p.Leu129=) c.438G>A (p.Leu146=) | |
| 4 | g.99583481G>C | CA440328636 | MTTP | c.357G>C (p.Leu119=) c.108G>C (p.Leu36=) c.387G>C (p.Leu129=) c.438G>C (p.Leu146=) | gnomAD v4 |
| 4 | g.99583481G>T | CA440328637 | MTTP | c.357G>T (p.Leu119=) c.108G>T (p.Leu36=) c.387G>T (p.Leu129=) c.438G>T (p.Leu146=) | |
| 4 | g.99583482C>A | CA357502400 | MTTP | c.358C>A (p.Gln120Lys) c.109C>A (p.Gln37Lys) c.388C>A (p.Gln130Lys) c.439C>A (p.Gln147Lys) | gnomAD v4 |
| 4 | g.99583482C= | CA1480066747 | MTTP | c.358C= (p.Gln120=) c.109C= (p.Gln37=) c.388C= (p.Gln130=) c.439C= (p.Gln147=) | |
| 4 | g.99583482C>G | CA357502402 | MTTP | c.358C>G (p.Gln120Glu) c.109C>G (p.Gln37Glu) c.388C>G (p.Gln130Glu) c.439C>G (p.Gln147Glu) | |
| 4 | g.99583482C>T | CA357502404 | MTTP | c.358C>T (p.Gln120Ter) c.109C>T (p.Gln37Ter) c.388C>T (p.Gln130Ter) c.439C>T (p.Gln147Ter) | ClinVar dbSNP |
| 4 | g.99583482_99583483delinsCA | CA1480066746 | MTTP | c.358_359delinsCA (p.Gln120=) c.109_110delinsCA (p.Gln37=) c.388_389delinsCA (p.Gln130=) c.439_440delinsCA (p.Gln147=) | |
| 4 | g.99583483A>C | CA357502406 | MTTP | c.359A>C (p.Gln120Pro) c.110A>C (p.Gln37Pro) c.389A>C (p.Gln130Pro) c.440A>C (p.Gln147Pro) | |
| 4 | g.99583483A>G | CA357502408 | MTTP | c.359A>G (p.Gln120Arg) c.110A>G (p.Gln37Arg) c.389A>G (p.Gln130Arg) c.440A>G (p.Gln147Arg) | |
| 4 | g.99583483A>T | CA357502410 | MTTP | c.359A>T (p.Gln120Leu) c.110A>T (p.Gln37Leu) c.389A>T (p.Gln130Leu) c.440A>T (p.Gln147Leu) | |
| 4 | g.99583485del | CA800747554 | MTTP | c.361del (p.Arg121AspfsTer7) c.112del (p.Arg38AspfsTer7) c.391del (p.Arg131AspfsTer7) c.442del (p.Arg148AspfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583484A>C | CA357502412 | MTTP | c.360A>C (p.Gln120His) c.111A>C (p.Gln37His) c.390A>C (p.Gln130His) c.441A>C (p.Gln147His) | |
| 4 | g.99583484A>G | CA440328638 | MTTP | c.360A>G (p.Gln120=) c.111A>G (p.Gln37=) c.390A>G (p.Gln130=) c.441A>G (p.Gln147=) | |
| 4 | g.99583484A>T | CA357502414 | MTTP | c.360A>T (p.Gln120His) c.111A>T (p.Gln37His) c.390A>T (p.Gln130His) c.441A>T (p.Gln147His) | |
| 4 | g.99583485A>C | CA440328639 | MTTP | c.361A>C (p.Arg121=) c.112A>C (p.Arg38=) c.391A>C (p.Arg131=) c.442A>C (p.Arg148=) | |
| 4 | g.99583485A>G | CA357502416 | MTTP | c.361A>G (p.Arg121Gly) c.112A>G (p.Arg38Gly) c.391A>G (p.Arg131Gly) c.442A>G (p.Arg148Gly) | |
| 4 | g.99583485A>T | CA357502418 | MTTP | c.361A>T (p.Arg121Ter) c.112A>T (p.Arg38Ter) c.391A>T (p.Arg131Ter) c.442A>T (p.Arg148Ter) | |
| 4 | g.99583486G>A | CA357502422 | MTTP | c.362G>A (p.Arg121Lys) c.113G>A (p.Arg38Lys) c.392G>A (p.Arg131Lys) c.443G>A (p.Arg148Lys) | |
| 4 | g.99583486G>C | CA357502424 | MTTP | c.362G>C (p.Arg121Thr) c.113G>C (p.Arg38Thr) c.392G>C (p.Arg131Thr) c.443G>C (p.Arg148Thr) | gnomAD v4 |
| 4 | g.99583486G= | CA1480066748 | MTTP | c.362G= (p.Arg121=) c.113G= (p.Arg38=) c.392G= (p.Arg131=) c.443G= (p.Arg148=) | |
| 4 | g.99583486G>T | CA357502420 | MTTP | c.362G>T (p.Arg121Ile) c.113G>T (p.Arg38Ile) c.392G>T (p.Arg131Ile) c.443G>T (p.Arg148Ile) | gnomAD v4 |
| 4 | g.99583487_99583493del | CA2580071899 | MTTP | c.363_369del (p.Arg121SerfsTer5) c.114_120del (p.Arg38SerfsTer5) c.393_399del (p.Arg131SerfsTer5) c.444_450del (p.Arg148SerfsTer5) | ClinVar |
| 4 | g.99583486_99583487insTTT | CA1065939237 | MTTP | c.362_363insTTT (p.Arg121delinsSerLeu) c.113_114insTTT (p.Arg38delinsSerLeu) c.392_393insTTT (p.Arg131delinsSerLeu) c.443_444insTTT (p.Arg148delinsSerLeu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583487A= | CA1480066749 | MTTP | c.363A= (p.Arg121=) c.114A= (p.Arg38=) c.393A= (p.Arg131=) c.444A= (p.Arg148=) | |
| 4 | g.99583487A>C | CA357502428 | MTTP | c.363A>C (p.Arg121Ser) c.114A>C (p.Arg38Ser) c.393A>C (p.Arg131Ser) c.444A>C (p.Arg148Ser) | |
| 4 | g.99583487A>G | CA440328640 | MTTP | c.363A>G (p.Arg121=) c.114A>G (p.Arg38=) c.393A>G (p.Arg131=) c.444A>G (p.Arg148=) | |
| 4 | g.99583487A>T | CA357502426 | MTTP | c.363A>T (p.Arg121Ser) c.114A>T (p.Arg38Ser) c.393A>T (p.Arg131Ser) c.444A>T (p.Arg148Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583488C>A | CA357502432 | MTTP | c.364C>A (p.Pro122Thr) c.115C>A (p.Pro39Thr) c.394C>A (p.Pro132Thr) c.445C>A (p.Pro149Thr) | |
| 4 | g.99583488C>G | CA357502430 | MTTP | c.364C>G (p.Pro122Ala) c.115C>G (p.Pro39Ala) c.394C>G (p.Pro132Ala) c.445C>G (p.Pro149Ala) | gnomAD v4 |
| 4 | g.99583488C>T | CA357502431 | MTTP | c.364C>T (p.Pro122Ser) c.115C>T (p.Pro39Ser) c.394C>T (p.Pro132Ser) c.445C>T (p.Pro149Ser) | gnomAD v4 |
| 4 | g.99583489C>A | CA357502433 | MTTP | c.365C>A (p.Pro122His) c.116C>A (p.Pro39His) c.395C>A (p.Pro132His) c.446C>A (p.Pro149His) | |
| 4 | g.99583489C>G | CA357502434 | MTTP | c.365C>G (p.Pro122Arg) c.116C>G (p.Pro39Arg) c.395C>G (p.Pro132Arg) c.446C>G (p.Pro149Arg) | |
| 4 | g.99583489C>T | CA357502435 | MTTP | c.365C>T (p.Pro122Leu) c.116C>T (p.Pro39Leu) c.395C>T (p.Pro132Leu) c.446C>T (p.Pro149Leu) | |
| 4 | g.99583490_99583492dup | CA2671532897 | MTTP | c.366_368dup (p.Thr123_Leu124insThr) c.117_119dup (p.Thr40_Leu41insThr) c.396_398dup (p.Thr133_Leu134insThr) c.447_449dup (p.Thr150_Leu151insThr) | gnomAD v4 |
| 4 | g.99583490T>A | CA440328641 | MTTP | c.366T>A (p.Pro122=) c.117T>A (p.Pro39=) c.396T>A (p.Pro132=) c.447T>A (p.Pro149=) | |
| 4 | g.99583490T>C | CA440328642 | MTTP | c.366T>C (p.Pro122=) c.117T>C (p.Pro39=) c.396T>C (p.Pro132=) c.447T>C (p.Pro149=) | |
| 4 | g.99583490T>G | CA440328643 | MTTP | c.366T>G (p.Pro122=) c.117T>G (p.Pro39=) c.396T>G (p.Pro132=) c.447T>G (p.Pro149=) | |
| 4 | g.99583491A= | CA1480066750 | MTTP | c.367A= (p.Thr123=) c.118A= (p.Thr40=) c.397A= (p.Thr133=) c.448A= (p.Thr150=) | |
| 4 | g.99583491A>C | CA357502436 | MTTP | c.367A>C (p.Thr123Pro) c.118A>C (p.Thr40Pro) c.397A>C (p.Thr133Pro) c.448A>C (p.Thr150Pro) | |
| 4 | g.99583491A>G | CA3021809 | MTTP | c.367A>G (p.Thr123Ala) c.118A>G (p.Thr40Ala) c.397A>G (p.Thr133Ala) c.448A>G (p.Thr150Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583491A>T | CA357502437 | MTTP | c.367A>T (p.Thr123Ser) c.118A>T (p.Thr40Ser) c.397A>T (p.Thr133Ser) c.448A>T (p.Thr150Ser) | |
| 4 | g.99583492C>A | CA357502438 | MTTP | c.368C>A (p.Thr123Lys) c.119C>A (p.Thr40Lys) c.398C>A (p.Thr133Lys) c.449C>A (p.Thr150Lys) | |
| 4 | g.99583492C= | CA1480066751 | MTTP | c.368C= (p.Thr123=) c.119C= (p.Thr40=) c.398C= (p.Thr133=) c.449C= (p.Thr150=) | |
| 4 | g.99583492C>G | CA357502439 | MTTP | c.368C>G (p.Thr123Arg) c.119C>G (p.Thr40Arg) c.398C>G (p.Thr133Arg) c.449C>G (p.Thr150Arg) | |
| 4 | g.99583492C>T | CA3021810 | MTTP | c.368C>T (p.Thr123Met) c.119C>T (p.Thr40Met) c.398C>T (p.Thr133Met) c.449C>T (p.Thr150Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99583493G>A | CA3021811 | MTTP | c.369G>A (p.Thr123=) c.120G>A (p.Thr40=) c.399G>A (p.Thr133=) c.450G>A (p.Thr150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583493G>C | CA440328644 | MTTP | c.369G>C (p.Thr123=) c.120G>C (p.Thr40=) c.399G>C (p.Thr133=) c.450G>C (p.Thr150=) | |
| 4 | g.99583493G= | CA1480066752 | MTTP | c.369G= (p.Thr123=) c.120G= (p.Thr40=) c.399G= (p.Thr133=) c.450G= (p.Thr150=) | |
| 4 | g.99583493G>T | CA440328645 | MTTP | c.369G>T (p.Thr123=) c.120G>T (p.Thr40=) c.399G>T (p.Thr133=) c.450G>T (p.Thr150=) | |
| 4 | g.99583494C>A | CA357502442 | MTTP | c.370C>A (p.Leu124Ile) c.121C>A (p.Leu41Ile) c.400C>A (p.Leu134Ile) c.451C>A (p.Leu151Ile) | |
| 4 | g.99583494C>G | CA357502441 | MTTP | c.370C>G (p.Leu124Val) c.121C>G (p.Leu41Val) c.400C>G (p.Leu134Val) c.451C>G (p.Leu151Val) | gnomAD v4 |
| 4 | g.99583494C>T | CA357502440 | MTTP | c.370C>T (p.Leu124Phe) c.121C>T (p.Leu41Phe) c.400C>T (p.Leu134Phe) c.451C>T (p.Leu151Phe) | |
| 4 | g.99583495T>A | CA357502443 | MTTP | c.371T>A (p.Leu124His) c.122T>A (p.Leu41His) c.401T>A (p.Leu134His) c.452T>A (p.Leu151His) | |
| 4 | g.99583495T>C | CA357502444 | MTTP | c.371T>C (p.Leu124Pro) c.122T>C (p.Leu41Pro) c.401T>C (p.Leu134Pro) c.452T>C (p.Leu151Pro) | |
| 4 | g.99583495T>G | CA357502445 | MTTP | c.371T>G (p.Leu124Arg) c.122T>G (p.Leu41Arg) c.401T>G (p.Leu134Arg) c.452T>G (p.Leu151Arg) | |
| 4 | g.99583496C>A | CA440328646 | MTTP | c.372C>A (p.Leu124=) c.123C>A (p.Leu41=) c.402C>A (p.Leu134=) c.453C>A (p.Leu151=) | |
| 4 | g.99583496C>G | CA440328647 | MTTP | c.372C>G (p.Leu124=) c.123C>G (p.Leu41=) c.402C>G (p.Leu134=) c.453C>G (p.Leu151=) | |
| 4 | g.99583496C>T | CA440328648 | MTTP | c.372C>T (p.Leu124=) c.123C>T (p.Leu41=) c.402C>T (p.Leu134=) c.453C>T (p.Leu151=) | |
| 4 | g.99583497del | CA2499217352 | MTTP | c.373del (p.Leu125PhefsTer3) c.124del (p.Leu42PhefsTer3) c.403del (p.Leu135PhefsTer3) c.454del (p.Leu152PhefsTer3) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99583497C>A | CA357502446 | MTTP | c.373C>A (p.Leu125Ile) c.124C>A (p.Leu42Ile) c.403C>A (p.Leu135Ile) c.454C>A (p.Leu152Ile) | |
| 4 | g.99583497C>G | CA357502447 | MTTP | c.373C>G (p.Leu125Val) c.124C>G (p.Leu42Val) c.403C>G (p.Leu135Val) c.454C>G (p.Leu152Val) | |
| 4 | g.99583497C>T | CA357502448 | MTTP | c.373C>T (p.Leu125Phe) c.124C>T (p.Leu42Phe) c.403C>T (p.Leu135Phe) c.454C>T (p.Leu152Phe) | |
| 4 | g.99583498T>A | CA357502449 | MTTP | c.374T>A (p.Leu125His) c.125T>A (p.Leu42His) c.404T>A (p.Leu135His) c.455T>A (p.Leu152His) | |
| 4 | g.99583498T>C | CA102617651 | MTTP | c.374T>C (p.Leu125Pro) c.125T>C (p.Leu42Pro) c.404T>C (p.Leu135Pro) c.455T>C (p.Leu152Pro) | dbSNP |
| 4 | g.99583498T>G | CA357502450 | MTTP | c.374T>G (p.Leu125Arg) c.125T>G (p.Leu42Arg) c.404T>G (p.Leu135Arg) c.455T>G (p.Leu152Arg) | |
| 4 | g.99583498T= | CA1480066753 | MTTP | c.374T= (p.Leu125=) c.125T= (p.Leu42=) c.404T= (p.Leu135=) c.455T= (p.Leu152=) | |
| 4 | g.99583499T>A | CA440328651 | MTTP | c.375T>A (p.Leu125=) c.126T>A (p.Leu42=) c.405T>A (p.Leu135=) c.456T>A (p.Leu152=) | gnomAD v4 |
| 4 | g.99583499T>C | CA440328650 | MTTP | c.375T>C (p.Leu125=) c.126T>C (p.Leu42=) c.405T>C (p.Leu135=) c.456T>C (p.Leu152=) | |
| 4 | g.99583499T>G | CA440328649 | MTTP | c.375T>G (p.Leu125=) c.126T>G (p.Leu42=) c.405T>G (p.Leu135=) c.456T>G (p.Leu152=) | gnomAD v4 |
| 4 | g.99583500C>A | CA357502451 | MTTP | c.376C>A (p.His126Asn) c.127C>A (p.His43Asn) c.406C>A (p.His136Asn) c.457C>A (p.His153Asn) | |
| 4 | g.99583500C>G | CA357502452 | MTTP | c.376C>G (p.His126Asp) c.127C>G (p.His43Asp) c.406C>G (p.His136Asp) c.457C>G (p.His153Asp) | |
| 4 | g.99583500C>T | CA357502453 | MTTP | c.376C>T (p.His126Tyr) c.127C>T (p.His43Tyr) c.406C>T (p.His136Tyr) c.457C>T (p.His153Tyr) | |
| 4 | g.99583501A= | CA1480066754 | MTTP | c.377A= (p.His126=) c.128A= (p.His43=) c.407A= (p.His136=) c.458A= (p.His153=) | |
| 4 | g.99583501A>C | CA357502456 | MTTP | c.377A>C (p.His126Pro) c.128A>C (p.His43Pro) c.407A>C (p.His136Pro) c.458A>C (p.His153Pro) | |
| 4 | g.99583501A>G | CA357502455 | MTTP | c.377A>G (p.His126Arg) c.128A>G (p.His43Arg) c.407A>G (p.His136Arg) c.458A>G (p.His153Arg) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99583501A>T | CA357502454 | MTTP | c.377A>T (p.His126Leu) c.128A>T (p.His43Leu) c.407A>T (p.His136Leu) c.458A>T (p.His153Leu) | |
| 4 | g.99583502T>A | CA357502457 | MTTP | c.378T>A (p.His126Gln) c.129T>A (p.His43Gln) c.408T>A (p.His136Gln) c.459T>A (p.His153Gln) | |
| 4 | g.99583502T>C | CA440328652 | MTTP | c.378T>C (p.His126=) c.129T>C (p.His43=) c.408T>C (p.His136=) c.459T>C (p.His153=) | ClinVar dbSNP |
| 4 | g.99583502T>G | CA357502458 | MTTP | c.378T>G (p.His126Gln) c.129T>G (p.His43Gln) c.408T>G (p.His136Gln) c.459T>G (p.His153Gln) | |
| 4 | g.99583503C>A | CA357502459 | MTTP | c.379C>A (p.Leu127Ile) c.130C>A (p.Leu44Ile) c.409C>A (p.Leu137Ile) c.460C>A (p.Leu154Ile) | COSMIC |
| 4 | g.99583503C>G | CA357502460 | MTTP | c.379C>G (p.Leu127Val) c.130C>G (p.Leu44Val) c.409C>G (p.Leu137Val) c.460C>G (p.Leu154Val) | |
| 4 | g.99583503C>T | CA440328653 | MTTP | c.379C>T (p.Leu127=) c.130C>T (p.Leu44=) c.409C>T (p.Leu137=) c.460C>T (p.Leu154=) | |
| 4 | g.99583504T>A | CA357502461 | MTTP | c.380T>A (p.Leu127Gln) c.131T>A (p.Leu44Gln) c.410T>A (p.Leu137Gln) c.461T>A (p.Leu154Gln) | |
| 4 | g.99583504T>C | CA357502462 | MTTP | c.380T>C (p.Leu127Pro) c.131T>C (p.Leu44Pro) c.410T>C (p.Leu137Pro) c.461T>C (p.Leu154Pro) | |
| 4 | g.99583504T>G | CA357502463 | MTTP | c.380T>G (p.Leu127Arg) c.131T>G (p.Leu44Arg) c.410T>G (p.Leu137Arg) c.461T>G (p.Leu154Arg) | |
| 4 | g.99583505A>C | CA440328654 | MTTP | c.381A>C (p.Leu127=) c.132A>C (p.Leu44=) c.411A>C (p.Leu137=) c.462A>C (p.Leu154=) | COSMIC |
| 4 | g.99583505A>G | CA440328656 | MTTP | c.381A>G (p.Leu127=) c.132A>G (p.Leu44=) c.411A>G (p.Leu137=) c.462A>G (p.Leu154=) | ClinVar |
| 4 | g.99583505A>T | CA440328655 | MTTP | c.381A>T (p.Leu127=) c.132A>T (p.Leu44=) c.411A>T (p.Leu137=) c.462A>T (p.Leu154=) | |
| 4 | g.99583506A>C | CA357502464 | MTTP | c.382A>C (p.Ile128Leu) c.133A>C (p.Ile45Leu) c.412A>C (p.Ile138Leu) c.463A>C (p.Ile155Leu) | |
| 4 | g.99583506A>G | CA357502466 | MTTP | c.382A>G (p.Ile128Val) c.133A>G (p.Ile45Val) c.412A>G (p.Ile138Val) c.463A>G (p.Ile155Val) | |
| 4 | g.99583506A>T | CA357502465 | MTTP | c.382A>T (p.Ile128Phe) c.133A>T (p.Ile45Phe) c.412A>T (p.Ile138Phe) c.463A>T (p.Ile155Phe) | |
| 4 | g.99583507T>A | CA357502467 | MTTP | c.383T>A (p.Ile128Asn) c.134T>A (p.Ile45Asn) c.413T>A (p.Ile138Asn) c.464T>A (p.Ile155Asn) | |
| 4 | g.99583507T>C | CA123823 | MTTP | c.383T>C (p.Ile128Thr) c.134T>C (p.Ile45Thr) c.413T>C (p.Ile138Thr) c.464T>C (p.Ile155Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583507T>G | CA357502468 | MTTP | c.383T>G (p.Ile128Ser) c.134T>G (p.Ile45Ser) c.413T>G (p.Ile138Ser) c.464T>G (p.Ile155Ser) | |
| 4 | g.99583507T= | CA1480066755 | MTTP | c.383T= (p.Ile128=) c.134T= (p.Ile45=) c.413T= (p.Ile138=) c.464T= (p.Ile155=) | |
| 4 | g.99583508C>A | CA440328657 | MTTP | c.384C>A (p.Ile128=) c.135C>A (p.Ile45=) c.414C>A (p.Ile138=) c.465C>A (p.Ile155=) | |
| 4 | g.99583508C>G | CA357502469 | MTTP | c.384C>G (p.Ile128Met) c.135C>G (p.Ile45Met) c.414C>G (p.Ile138Met) c.465C>G (p.Ile155Met) | |
| 4 | g.99583508C>T | CA440328658 | MTTP | c.384C>T (p.Ile128=) c.135C>T (p.Ile45=) c.414C>T (p.Ile138=) c.465C>T (p.Ile155=) | |
| 4 | g.99583509C>A | CA357502470 | MTTP | c.385C>A (p.His129Asn) c.136C>A (p.His46Asn) c.415C>A (p.His139Asn) c.466C>A (p.His156Asn) | |
| 4 | g.99583509C= | CA1480066756 | MTTP | c.385C= (p.His129=) c.136C= (p.His46=) c.415C= (p.His139=) c.466C= (p.His156=) | |
| 4 | g.99583509C>G | CA357502472 | MTTP | c.385C>G (p.His129Asp) c.136C>G (p.His46Asp) c.415C>G (p.His139Asp) c.466C>G (p.His156Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583509C>T | CA357502471 | MTTP | c.385C>T (p.His129Tyr) c.136C>T (p.His46Tyr) c.415C>T (p.His139Tyr) c.466C>T (p.His156Tyr) |