Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.99583454_99583455dup | CA2843289597 | MTTP | c.330_331dup (p.Met111LysfsTer18) c.81_82dup (p.Met28LysfsTer18) c.360_361dup (p.Met121LysfsTer18) c.411_412dup (p.Met138LysfsTer18) c.*393_*394dup (n.*393_*394dup) | |
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) | |
4 | g.99583510A>C | CA357502473 | MTTP | c.386A>C (p.His129Pro) c.137A>C (p.His46Pro) c.416A>C (p.His139Pro) c.467A>C (p.His156Pro) | |
4 | g.99583510A>G | CA357502474 | MTTP | c.386A>G (p.His129Arg) c.137A>G (p.His46Arg) c.416A>G (p.His139Arg) c.467A>G (p.His156Arg) | gnomAD v4 |
4 | g.99583510A>T | CA357502475 | MTTP | c.386A>T (p.His129Leu) c.137A>T (p.His46Leu) c.416A>T (p.His139Leu) c.467A>T (p.His156Leu) | |
4 | g.99583511T>A | CA357502476 | MTTP | c.387T>A (p.His129Gln) c.138T>A (p.His46Gln) c.417T>A (p.His139Gln) c.468T>A (p.His156Gln) | |
4 | g.99583511T>C | CA440328659 | MTTP | c.387T>C (p.His129=) c.138T>C (p.His46=) c.417T>C (p.His139=) c.468T>C (p.His156=) | ClinVar dbSNP gnomAD v4 |
4 | g.99583511T>G | CA357502477 | MTTP | c.387T>G (p.His129Gln) c.138T>G (p.His46Gln) c.417T>G (p.His139Gln) c.468T>G (p.His156Gln) | |
4 | g.99583512G>A | CA357502478 | MTTP | c.388G>A (p.Gly130Arg) c.139G>A (p.Gly47Arg) c.418G>A (p.Gly140Arg) c.469G>A (p.Gly157Arg) | |
4 | g.99583512G>C | CA357502479 | MTTP | c.388G>C (p.Gly130Arg) c.139G>C (p.Gly47Arg) c.418G>C (p.Gly140Arg) c.469G>C (p.Gly157Arg) | |
4 | g.99583512G>T | CA357502480 | MTTP | c.388G>T (p.Gly130Ter) c.139G>T (p.Gly47Ter) c.418G>T (p.Gly140Ter) c.469G>T (p.Gly157Ter) | |
4 | g.99583513G>A | CA357502481 | MTTP | c.389G>A (p.Gly130Glu) c.140G>A (p.Gly47Glu) c.419G>A (p.Gly140Glu) c.470G>A (p.Gly157Glu) | dbSNP COSMIC |
4 | g.99583513G>C | CA357502482 | MTTP | c.389G>C (p.Gly130Ala) c.140G>C (p.Gly47Ala) c.419G>C (p.Gly140Ala) c.470G>C (p.Gly157Ala) | |
4 | g.99583513G= | CA1480066757 | MTTP | c.389G= (p.Gly130=) c.140G= (p.Gly47=) c.419G= (p.Gly140=) c.470G= (p.Gly157=) | |
4 | g.99583513G>T | CA357502483 | MTTP | c.389G>T (p.Gly130Val) c.140G>T (p.Gly47Val) c.419G>T (p.Gly140Val) c.470G>T (p.Gly157Val) | gnomAD v4 |
4 | g.99583514A>C | CA440328660 | MTTP | c.390A>C (p.Gly130=) c.141A>C (p.Gly47=) c.420A>C (p.Gly140=) c.471A>C (p.Gly157=) | |
4 | g.99583514A>G | CA440328661 | MTTP | c.390A>G (p.Gly130=) c.141A>G (p.Gly47=) c.420A>G (p.Gly140=) c.471A>G (p.Gly157=) | gnomAD v4 |
4 | g.99583514A>T | CA440328662 | MTTP | c.390A>T (p.Gly130=) c.141A>T (p.Gly47=) c.420A>T (p.Gly140=) c.471A>T (p.Gly157=) | |
4 | g.99583515A>C | CA357502486 | MTTP | c.391A>C (p.Lys131Gln) c.142A>C (p.Lys48Gln) c.421A>C (p.Lys141Gln) c.472A>C (p.Lys158Gln) | |
4 | g.99583515A>G | CA357502485 | MTTP | c.391A>G (p.Lys131Glu) c.142A>G (p.Lys48Glu) c.421A>G (p.Lys141Glu) c.472A>G (p.Lys158Glu) | |
4 | g.99583515A>T | CA357502484 | MTTP | c.391A>T (p.Lys131Ter) c.142A>T (p.Lys48Ter) c.421A>T (p.Lys141Ter) c.472A>T (p.Lys158Ter) | |
4 | g.99583516A>C | CA357502487 | MTTP | c.392A>C (p.Lys131Thr) c.143A>C (p.Lys48Thr) c.422A>C (p.Lys141Thr) c.473A>C (p.Lys158Thr) | |
4 | g.99583516A>G | CA357502488 | MTTP | c.392A>G (p.Lys131Arg) c.143A>G (p.Lys48Arg) c.422A>G (p.Lys141Arg) c.473A>G (p.Lys158Arg) | |
4 | g.99583516A>T | CA357502489 | MTTP | c.392A>T (p.Lys131Met) c.143A>T (p.Lys48Met) c.422A>T (p.Lys141Met) c.473A>T (p.Lys158Met) | |
4 | g.99583517G>A | CA440328663 | MTTP | c.393G>A (p.Lys131=) c.144G>A (p.Lys48=) c.423G>A (p.Lys141=) c.474G>A (p.Lys158=) | |
4 | g.99583517G>C | CA357502490 | MTTP | c.393G>C (p.Lys131Asn) c.144G>C (p.Lys48Asn) c.423G>C (p.Lys141Asn) c.474G>C (p.Lys158Asn) | |
4 | g.99583517G>T | CA357502491 | MTTP | c.393G>T (p.Lys131Asn) c.144G>T (p.Lys48Asn) c.423G>T (p.Lys141Asn) c.474G>T (p.Lys158Asn) | COSMIC |
4 | g.99583517_99583518insA | CA2762811615 | MTTP | c.393_393+1insA (n.393_393+1insA) c.144_144+1insA (n.144_144+1insA) c.393_394insA (p.Val132SerfsTer27) c.423_423+1insA (n.423_423+1insA) c.474_474+1insA (n.474_474+1insA) | |
4 | g.99583518G>A | CA357502494 | MTTP | c.393+1G>A (n.393+1G>A) c.144+1G>A (n.144+1G>A) c.394G>A (p.Val132Ile) c.423+1G>A (n.423+1G>A) c.474+1G>A (n.474+1G>A) | gnomAD v4 |
4 | g.99583518G>C | CA357502493 | MTTP | c.393+1G>C (n.393+1G>C) c.144+1G>C (n.144+1G>C) c.394G>C (p.Val132Leu) c.423+1G>C (n.423+1G>C) c.474+1G>C (n.474+1G>C) | ClinVar |
4 | g.99583518G>T | CA357502492 | MTTP | c.393+1G>T (n.393+1G>T) c.144+1G>T (n.144+1G>T) c.394G>T (p.Val132Leu) c.423+1G>T (n.423+1G>T) c.474+1G>T (n.474+1G>T) | |
4 | g.99583518_99583519insACT | CA2762811626 | MTTP | c.393+1_393+2insACT (n.393+1_393+2insACT) c.144+1_144+2insACT (n.144+1_144+2insACT) c.394_395insACT (p.Val132delinsAspLeu) c.423+1_423+2insACT (n.423+1_423+2insACT) c.474+1_474+2insACT (n.474+1_474+2insACT) | |
4 | g.99583519T>A | CA357502495 | MTTP | c.393+2T>A (n.393+2T>A) c.144+2T>A (n.144+2T>A) c.395T>A (p.Val132Glu) c.423+2T>A (n.423+2T>A) c.474+2T>A (n.474+2T>A) | |
4 | g.99583519T>C | CA357502496 | MTTP | c.393+2T>C (n.393+2T>C) c.144+2T>C (n.144+2T>C) c.395T>C (p.Val132Ala) c.423+2T>C (n.423+2T>C) c.474+2T>C (n.474+2T>C) | |
4 | g.99583519T>G | CA357502497 | MTTP | c.393+2T>G (n.393+2T>G) c.144+2T>G (n.144+2T>G) c.395T>G (p.Val132Gly) c.423+2T>G (n.423+2T>G) c.474+2T>G (n.474+2T>G) | |
4 | g.99583520A>T | CA2695203711 | MTTP | c.393+3A>T (n.393+3A>T) c.144+3A>T (n.144+3A>T) c.396A>T (p.Val132=) c.423+3A>T (n.423+3A>T) c.474+3A>T (n.474+3A>T) | |
4 | g.99583521A= | CA1480066758 | MTTP | c.393+4A= (n.393+4A=) c.144+4A= (n.144+4A=) c.397A= (p.Lys133=) c.423+4A= (n.423+4A=) c.474+4A= (n.474+4A=) | |
4 | g.99583521A>C | CA357502498 | MTTP | c.393+4A>C (n.393+4A>C) c.144+4A>C (n.144+4A>C) c.397A>C (p.Lys133Gln) c.423+4A>C (n.423+4A>C) c.474+4A>C (n.474+4A>C) | |
4 | g.99583521A>G | CA357502499 | MTTP | c.393+4A>G (n.393+4A>G) c.144+4A>G (n.144+4A>G) c.397A>G (p.Lys133Glu) c.423+4A>G (n.423+4A>G) c.474+4A>G (n.474+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99583521A>T | CA357502500 | MTTP | c.393+4A>T (n.393+4A>T) c.144+4A>T (n.144+4A>T) c.397A>T (p.Lys133Ter) c.423+4A>T (n.423+4A>T) c.474+4A>T (n.474+4A>T) | |
4 | g.99583522A= | CA1480066759 | MTTP | c.393+5A= (n.393+5A=) c.144+5A= (n.144+5A=) c.398A= (p.Lys133=) c.423+5A= (n.423+5A=) c.474+5A= (n.474+5A=) | |
4 | g.99583522A>C | CA357502502 | MTTP | c.393+5A>C (n.393+5A>C) c.144+5A>C (n.144+5A>C) c.398A>C (p.Lys133Thr) c.423+5A>C (n.423+5A>C) c.474+5A>C (n.474+5A>C) | |
4 | g.99583522A>G | CA3021812 | MTTP | c.393+5A>G (n.393+5A>G) c.144+5A>G (n.144+5A>G) c.398A>G (p.Lys133Arg) c.423+5A>G (n.423+5A>G) c.474+5A>G (n.474+5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99583522A>T | CA357502501 | MTTP | c.393+5A>T (n.393+5A>T) c.144+5A>T (n.144+5A>T) c.398A>T (p.Lys133Met) c.423+5A>T (n.423+5A>T) c.474+5A>T (n.474+5A>T) | |
4 | g.99583523G>C | CA357502503 | MTTP | c.393+6G>C (n.393+6G>C) c.144+6G>C (n.144+6G>C) c.399G>C (p.Lys133Asn) c.423+6G>C (n.423+6G>C) c.474+6G>C (n.474+6G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99583523G= | CA1480066760 | MTTP | c.393+6G= (n.393+6G=) c.144+6G= (n.144+6G=) c.399G= (p.Lys133=) c.423+6G= (n.423+6G=) c.474+6G= (n.474+6G=) | |
4 | g.99583523G>T | CA357502504 | MTTP | c.393+6G>T (n.393+6G>T) c.144+6G>T (n.144+6G>T) c.399G>T (p.Lys133Asn) c.423+6G>T (n.423+6G>T) c.474+6G>T (n.474+6G>T) | |
4 | g.99583524_99583526del | CA2578152163 | MTTP | c.393+7_393+9del (n.393+7_393+9del) c.144+7_144+9del (n.144+7_144+9del) c.400_402del (p.Gly134del) c.423+7_423+9del (n.423+7_423+9del) c.474+7_474+9del (n.474+7_474+9del) | ClinVar gnomAD v4 |
4 | g.99583523_99583524insACA | CA2762811639 | MTTP | c.393+6_393+7insACA (n.393+6_393+7insACA) c.144+6_144+7insACA (n.144+6_144+7insACA) c.399_400insACA (p.Lys133_Gly134insThr) c.423+6_423+7insACA (n.423+6_423+7insACA) c.474+6_474+7insACA (n.474+6_474+7insACA) | |
4 | g.99583524G>A | CA3021813 | MTTP | c.393+7G>A (n.393+7G>A) c.144+7G>A (n.144+7G>A) c.400G>A (p.Gly134Arg) c.423+7G>A (n.423+7G>A) c.474+7G>A (n.474+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99583524G>C | CA357502505 | MTTP | c.393+7G>C (n.393+7G>C) c.144+7G>C (n.144+7G>C) c.400G>C (p.Gly134Arg) c.423+7G>C (n.423+7G>C) c.474+7G>C (n.474+7G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99583524G= | CA1480066762 | MTTP | c.393+7G= (n.393+7G=) c.144+7G= (n.144+7G=) c.400G= (p.Gly134=) c.423+7G= (n.423+7G=) c.474+7G= (n.474+7G=) | |
4 | g.99583524G>T | CA357502506 | MTTP | c.393+7G>T (n.393+7G>T) c.144+7G>T (n.144+7G>T) c.400G>T (p.Gly134Trp) c.423+7G>T (n.423+7G>T) c.474+7G>T (n.474+7G>T) | dbSNP gnomAD v2 |
4 | g.99583524_99583525insACA | CA2762811644 | MTTP | c.393+7_393+8insACA (n.393+7_393+8insACA) c.144+7_144+8insACA (n.144+7_144+8insACA) c.400_401insACA (p.Gly134delinsAspArg) c.423+7_423+8insACA (n.423+7_423+8insACA) c.474+7_474+8insACA (n.474+7_474+8insACA) | |
4 | g.99583525G>A | CA357502507 | MTTP | c.393+8G>A (n.393+8G>A) c.144+8G>A (n.144+8G>A) c.401G>A (p.Gly134Glu) c.423+8G>A (n.423+8G>A) c.474+8G>A (n.474+8G>A) | gnomAD v4 |
4 | g.99583525G>C | CA357502508 | MTTP | c.393+8G>C (n.393+8G>C) c.144+8G>C (n.144+8G>C) c.401G>C (p.Gly134Ala) c.423+8G>C (n.423+8G>C) c.474+8G>C (n.474+8G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99583525G>T | CA357502509 | MTTP | c.393+8G>T (n.393+8G>T) c.144+8G>T (n.144+8G>T) c.401G>T (p.Gly134Val) c.423+8G>T (n.423+8G>T) c.474+8G>T (n.474+8G>T) | |
4 | g.99583526G>A | CA3021814 | MTTP | c.393+9G>A (n.393+9G>A) c.144+9G>A (n.144+9G>A) c.402G>A (p.Gly134=) c.423+9G>A (n.423+9G>A) c.474+9G>A (n.474+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99583526G= | CA1480066765 | MTTP | c.393+9G= (n.393+9G=) c.144+9G= (n.144+9G=) c.402G= (p.Gly134=) c.423+9G= (n.423+9G=) c.474+9G= (n.474+9G=) | |
4 | g.99583526G>T | CA102617665 | MTTP | c.393+9G>T (n.393+9G>T) c.144+9G>T (n.144+9G>T) c.402G>T (p.Gly134=) c.423+9G>T (n.423+9G>T) c.474+9G>T (n.474+9G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99583527C>A | CA3021816 | MTTP | c.393+10C>A (n.393+10C>A) c.144+10C>A (n.144+10C>A) c.403C>A (p.Arg135Ser) c.423+10C>A (n.423+10C>A) c.474+10C>A (n.474+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99583527C= | CA1480066767 | MTTP | c.393+10C= (n.393+10C=) c.144+10C= (n.144+10C=) c.403C= (p.Arg135=) c.423+10C= (n.423+10C=) c.474+10C= (n.474+10C=) | |
4 | g.99583527C>G | CA357502510 | MTTP | c.393+10C>G (n.393+10C>G) c.144+10C>G (n.144+10C>G) c.403C>G (p.Arg135Gly) c.423+10C>G (n.423+10C>G) c.474+10C>G (n.474+10C>G) | |
4 | g.99583527C>T | CA3021815 | MTTP | c.393+10C>T (n.393+10C>T) c.144+10C>T (n.144+10C>T) c.403C>T (p.Arg135Cys) c.423+10C>T (n.423+10C>T) c.474+10C>T (n.474+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99583527_99583528insACA | CA2762811650 | MTTP | c.393+10_393+11insACA (n.393+10_393+11insACA) c.144+10_144+11insACA (n.144+10_144+11insACA) c.403_404insACA (p.Arg135delinsHisSer) c.423+10_423+11insACA (n.423+10_423+11insACA) c.474+10_474+11insACA (n.474+10_474+11insACA) | |
4 | g.99583528G>A | CA3021817 | MTTP | c.393+11G>A (n.393+11G>A) c.144+11G>A (n.144+11G>A) c.404G>A (p.Arg135His) c.423+11G>A (n.423+11G>A) c.474+11G>A (n.474+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99583528G>C | CA357502512 | MTTP | c.393+11G>C (n.393+11G>C) c.144+11G>C (n.144+11G>C) c.404G>C (p.Arg135Pro) c.423+11G>C (n.423+11G>C) c.474+11G>C (n.474+11G>C) | |
4 | g.99583528G= | CA1480066771 | MTTP | c.393+11G= (n.393+11G=) c.144+11G= (n.144+11G=) c.404G= (p.Arg135=) c.423+11G= (n.423+11G=) c.474+11G= (n.474+11G=) | |
4 | g.99583528G>T | CA357502511 | MTTP | c.393+11G>T (n.393+11G>T) c.144+11G>T (n.144+11G>T) c.404G>T (p.Arg135Leu) c.423+11G>T (n.423+11G>T) c.474+11G>T (n.474+11G>T) | |
4 | g.99583530T>A | CA357502513 | MTTP | c.393+13T>A (n.393+13T>A) c.144+13T>A (n.144+13T>A) c.406T>A (p.Leu136Ile) c.423+13T>A (n.423+13T>A) c.474+13T>A (n.474+13T>A) | |
4 | g.99583530T>G | CA357502514 | MTTP | c.393+13T>G (n.393+13T>G) c.144+13T>G (n.144+13T>G) c.406T>G (p.Leu136Val) c.423+13T>G (n.423+13T>G) c.474+13T>G (n.474+13T>G) | |
4 | g.99583531T>A | CA357502515 | MTTP | c.393+14T>A (n.393+14T>A) c.144+14T>A (n.144+14T>A) c.407T>A (p.Leu136Ter) c.423+14T>A (n.423+14T>A) c.474+14T>A (n.474+14T>A) | |
4 | g.99583531T>C | CA357502516 | MTTP | c.393+14T>C (n.393+14T>C) c.144+14T>C (n.144+14T>C) c.407T>C (p.Leu136Ser) c.423+14T>C (n.423+14T>C) c.474+14T>C (n.474+14T>C) | |
4 | g.99583531T>G | CA357502517 | MTTP | c.393+14T>G (n.393+14T>G) c.144+14T>G (n.144+14T>G) c.407T>G (p.Leu136Ter) c.423+14T>G (n.423+14T>G) c.474+14T>G (n.474+14T>G) | |
4 | g.99583532A>C | CA357502518 | MTTP | c.393+15A>C (n.393+15A>C) c.144+15A>C (n.144+15A>C) c.408A>C (p.Leu136Phe) c.423+15A>C (n.423+15A>C) c.474+15A>C (n.474+15A>C) | |
4 | g.99583532A>T | CA357502519 | MTTP | c.393+15A>T (n.393+15A>T) c.144+15A>T (n.144+15A>T) c.408A>T (p.Leu136Phe) c.423+15A>T (n.423+15A>T) c.474+15A>T (n.474+15A>T) | |
4 | g.99583533G>A | CA357502520 | MTTP | c.393+16G>A (n.393+16G>A) c.144+16G>A (n.144+16G>A) c.409G>A (p.Asp137Asn) c.423+16G>A (n.423+16G>A) c.474+16G>A (n.474+16G>A) | |
4 | g.99583533G>C | CA357502521 | MTTP | c.393+16G>C (n.393+16G>C) c.144+16G>C (n.144+16G>C) c.409G>C (p.Asp137His) c.423+16G>C (n.423+16G>C) c.474+16G>C (n.474+16G>C) | gnomAD v4 |
4 | g.99583533G>T | CA357502522 | MTTP | c.393+16G>T (n.393+16G>T) c.144+16G>T (n.144+16G>T) c.409G>T (p.Asp137Tyr) c.423+16G>T (n.423+16G>T) c.474+16G>T (n.474+16G>T) | |
4 | g.99583534A>C | CA357502523 | MTTP | c.393+17A>C (n.393+17A>C) c.144+17A>C (n.144+17A>C) c.410A>C (p.Asp137Ala) c.423+17A>C (n.423+17A>C) c.474+17A>C (n.474+17A>C) | |
4 | g.99583534A>G | CA357502524 | MTTP | c.393+17A>G (n.393+17A>G) c.144+17A>G (n.144+17A>G) c.410A>G (p.Asp137Gly) c.423+17A>G (n.423+17A>G) c.474+17A>G (n.474+17A>G) | ClinVar dbSNP |
4 | g.99583534A>T | CA357502525 | MTTP | c.393+17A>T (n.393+17A>T) c.144+17A>T (n.144+17A>T) c.410A>T (p.Asp137Val) c.423+17A>T (n.423+17A>T) c.474+17A>T (n.474+17A>T) | |
4 | g.99583535T>A | CA357502527 | MTTP | c.393+18T>A (n.393+18T>A) c.144+18T>A (n.144+18T>A) c.411T>A (p.Asp137Glu) c.423+18T>A (n.423+18T>A) c.474+18T>A (n.474+18T>A) | |
4 | g.99583535T>G | CA357502526 | MTTP | c.393+18T>G (n.393+18T>G) c.144+18T>G (n.144+18T>G) c.411T>G (p.Asp137Glu) c.423+18T>G (n.423+18T>G) c.474+18T>G (n.474+18T>G) | |
4 | g.99583536T>A | CA357502528 | MTTP | c.393+19T>A (n.393+19T>A) c.144+19T>A (n.144+19T>A) c.412T>A (p.Ser138Thr) c.423+19T>A (n.423+19T>A) c.474+19T>A (n.474+19T>A) | |
4 | g.99583536T>C | CA357502529 | MTTP | c.393+19T>C (n.393+19T>C) c.144+19T>C (n.144+19T>C) c.412T>C (p.Ser138Pro) c.423+19T>C (n.423+19T>C) c.474+19T>C (n.474+19T>C) | |
4 | g.99583536T>G | CA357502530 | MTTP | c.393+19T>G (n.393+19T>G) c.144+19T>G (n.144+19T>G) c.412T>G (p.Ser138Ala) c.423+19T>G (n.423+19T>G) c.474+19T>G (n.474+19T>G) | gnomAD v4 |
4 | g.99583537C>A | CA357502531 | MTTP | c.393+20C>A (n.393+20C>A) c.144+20C>A (n.144+20C>A) c.413C>A (p.Ser138Tyr) c.423+20C>A (n.423+20C>A) c.474+20C>A (n.474+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99583537C= | CA1480066778 | MTTP | c.393+20C= (n.393+20C=) c.144+20C= (n.144+20C=) c.413C= (p.Ser138=) c.423+20C= (n.423+20C=) c.474+20C= (n.474+20C=) | |
4 | g.99583537C>G | CA357502532 | MTTP | c.393+20C>G (n.393+20C>G) c.144+20C>G (n.144+20C>G) c.413C>G (p.Ser138Cys) c.423+20C>G (n.423+20C>G) c.474+20C>G (n.474+20C>G) | ClinVar |
4 | g.99583537C>T | CA357502533 | MTTP | c.393+20C>T (n.393+20C>T) c.144+20C>T (n.144+20C>T) c.413C>T (p.Ser138Phe) c.423+20C>T (n.423+20C>T) c.474+20C>T (n.474+20C>T) | |
4 | g.99583540_99583541del | CA2553108324 | MTTP | c.393+23_393+24del (n.393+23_393+24del) c.144+23_144+24del (n.144+23_144+24del) c.416_417del (p.Thr139AsnfsTer19) c.423+23_423+24del (n.423+23_423+24del) c.474+23_474+24del (n.474+23_474+24del) | |
4 | g.99583539A>C | CA357502534 | MTTP | c.393+22A>C (n.393+22A>C) c.144+22A>C (n.144+22A>C) c.415A>C (p.Thr139Pro) c.423+22A>C (n.423+22A>C) c.474+22A>C (n.474+22A>C) | |
4 | g.99583539A>G | CA357502535 | MTTP | c.393+22A>G (n.393+22A>G) c.144+22A>G (n.144+22A>G) c.415A>G (p.Thr139Ala) c.423+22A>G (n.423+22A>G) c.474+22A>G (n.474+22A>G) | |
4 | g.99583539A>T | CA357502536 | MTTP | c.393+22A>T (n.393+22A>T) c.144+22A>T (n.144+22A>T) c.415A>T (p.Thr139Ser) c.423+22A>T (n.423+22A>T) c.474+22A>T (n.474+22A>T) | |
4 | g.99583540C>A | CA357502537 | MTTP | c.393+23C>A (n.393+23C>A) c.144+23C>A (n.144+23C>A) c.416C>A (p.Thr139Lys) c.423+23C>A (n.423+23C>A) c.474+23C>A (n.474+23C>A) | |
4 | g.99583540C>G | CA357502538 | MTTP | c.393+23C>G (n.393+23C>G) c.144+23C>G (n.144+23C>G) c.416C>G (p.Thr139Arg) c.423+23C>G (n.423+23C>G) c.474+23C>G (n.474+23C>G) | |
4 | g.99583540C>T | CA357502539 | MTTP | c.393+23C>T (n.393+23C>T) c.144+23C>T (n.144+23C>T) c.416C>T (p.Thr139Ile) c.423+23C>T (n.423+23C>T) c.474+23C>T (n.474+23C>T) | |
4 | g.99583542A>C | CA357502542 | MTTP | c.393+25A>C (n.393+25A>C) c.144+25A>C (n.144+25A>C) c.418A>C (p.Thr140Pro) c.423+25A>C (n.423+25A>C) c.474+25A>C (n.474+25A>C) | |
4 | g.99583542A>G | CA357502541 | MTTP | c.393+25A>G (n.393+25A>G) c.144+25A>G (n.144+25A>G) c.418A>G (p.Thr140Ala) c.423+25A>G (n.423+25A>G) c.474+25A>G (n.474+25A>G) | gnomAD v4 |
4 | g.99583542A>T | CA357502540 | MTTP | c.393+25A>T (n.393+25A>T) c.144+25A>T (n.144+25A>T) c.418A>T (p.Thr140Ser) c.423+25A>T (n.423+25A>T) c.474+25A>T (n.474+25A>T) | |
4 | g.99583543C>A | CA357502543 | MTTP | c.393+26C>A (n.393+26C>A) c.144+26C>A (n.144+26C>A) c.419C>A (p.Thr140Asn) c.423+26C>A (n.423+26C>A) c.474+26C>A (n.474+26C>A) | gnomAD v4 |
4 | g.99583543C>G | CA357502545 | MTTP | c.393+26C>G (n.393+26C>G) c.144+26C>G (n.144+26C>G) c.419C>G (p.Thr140Ser) c.423+26C>G (n.423+26C>G) c.474+26C>G (n.474+26C>G) | |
4 | g.99583543C>T | CA357502544 | MTTP | c.393+26C>T (n.393+26C>T) c.144+26C>T (n.144+26C>T) c.419C>T (p.Thr140Ile) c.423+26C>T (n.423+26C>T) c.474+26C>T (n.474+26C>T) | |
4 | g.99583544T>A | CA553568471 | MTTP | c.393+27T>A (n.393+27T>A) c.144+27T>A (n.144+27T>A) c.420T>A (p.Thr140=) c.423+27T>A (n.423+27T>A) c.474+27T>A (n.474+27T>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99583544T= | CA1480066780 | MTTP | c.393+27T= (n.393+27T=) c.144+27T= (n.144+27T=) c.420T= (p.Thr140=) c.423+27T= (n.423+27T=) c.474+27T= (n.474+27T=) | |
4 | g.99583545T>A | CA357502546 | MTTP | c.393+28T>A (n.393+28T>A) c.144+28T>A (n.144+28T>A) c.421T>A (p.Phe141Ile) c.423+28T>A (n.423+28T>A) c.474+28T>A (n.474+28T>A) | |
4 | g.99583545T>C | CA357502548 | MTTP | c.393+28T>C (n.393+28T>C) c.144+28T>C (n.144+28T>C) c.421T>C (p.Phe141Leu) c.423+28T>C (n.423+28T>C) c.474+28T>C (n.474+28T>C) | |
4 | g.99583545T>G | CA357502547 | MTTP | c.393+28T>G (n.393+28T>G) c.144+28T>G (n.144+28T>G) c.421T>G (p.Phe141Val) c.423+28T>G (n.423+28T>G) c.474+28T>G (n.474+28T>G) | |
4 | g.99583546T>A | CA357502549 | MTTP | c.393+29T>A (n.393+29T>A) c.144+29T>A (n.144+29T>A) c.422T>A (p.Phe141Tyr) c.423+29T>A (n.423+29T>A) c.474+29T>A (n.474+29T>A) | |
4 | g.99583546T>C | CA357502551 | MTTP | c.393+29T>C (n.393+29T>C) c.144+29T>C (n.144+29T>C) c.422T>C (p.Phe141Ser) c.423+29T>C (n.423+29T>C) c.474+29T>C (n.474+29T>C) | gnomAD v4 |
4 | g.99583546T>G | CA357502550 | MTTP | c.393+29T>G (n.393+29T>G) c.144+29T>G (n.144+29T>G) c.422T>G (p.Phe141Cys) c.423+29T>G (n.423+29T>G) c.474+29T>G (n.474+29T>G) | |
4 | g.99583546_99583547insA | CA2762811652 | MTTP | c.393+29_393+30insA (n.393+29_393+30insA) c.144+29_144+30insA (n.144+29_144+30insA) c.422_423insA (p.Phe141LeufsTer18) c.423+29_423+30insA (n.423+29_423+30insA) c.474+29_474+30insA (n.474+29_474+30insA) | |
4 | g.99583547T>A | CA357502552 | MTTP | c.393+30T>A (n.393+30T>A) c.144+30T>A (n.144+30T>A) c.423T>A (p.Phe141Leu) c.423+30T>A (n.423+30T>A) c.474+30T>A (n.474+30T>A) | |
4 | g.99583547T>G | CA357502553 | MTTP | c.393+30T>G (n.393+30T>G) c.144+30T>G (n.144+30T>G) c.423T>G (p.Phe141Leu) c.423+30T>G (n.423+30T>G) c.474+30T>G (n.474+30T>G) | gnomAD v4 |
4 | g.99583547_99583553del | CA2762811653 | MTTP | c.393+30_393+36del (n.393+30_393+36del) c.144+30_144+36del (n.144+30_144+36del) c.423_429del (p.Phe141LeufsTer19) c.423+30_423+36del (n.423+30_423+36del) c.474+30_474+36del (n.474+30_474+36del) | |
4 | g.99583548T>A | CA357502554 | MTTP | c.393+31T>A (n.393+31T>A) c.144+31T>A (n.144+31T>A) c.424T>A (p.Ser142Thr) c.423+31T>A (n.423+31T>A) c.474+31T>A (n.474+31T>A) | |
4 | g.99583548T>C | CA357502555 | MTTP | c.393+31T>C (n.393+31T>C) c.144+31T>C (n.144+31T>C) c.424T>C (p.Ser142Pro) c.423+31T>C (n.423+31T>C) c.474+31T>C (n.474+31T>C) | |
4 | g.99583548T>G | CA357502556 | MTTP | c.393+31T>G (n.393+31T>G) c.144+31T>G (n.144+31T>G) c.424T>G (p.Ser142Ala) c.423+31T>G (n.423+31T>G) c.474+31T>G (n.474+31T>G) | |
4 | g.99583549C>A | CA357502557 | MTTP | c.393+32C>A (n.393+32C>A) c.144+32C>A (n.144+32C>A) c.425C>A (p.Ser142Tyr) c.423+32C>A (n.423+32C>A) c.474+32C>A (n.474+32C>A) | |
4 | g.99583549C>G | CA357502558 | MTTP | c.393+32C>G (n.393+32C>G) c.144+32C>G (n.144+32C>G) c.425C>G (p.Ser142Cys) c.423+32C>G (n.423+32C>G) c.474+32C>G (n.474+32C>G) | |
4 | g.99583549C>T | CA357502559 | MTTP | c.393+32C>T (n.393+32C>T) c.144+32C>T (n.144+32C>T) c.425C>T (p.Ser142Phe) c.423+32C>T (n.423+32C>T) c.474+32C>T (n.474+32C>T) | |
4 | g.99583549_99583550insACAG | CA2762811655 | MTTP | c.393+32_393+33insACAG (n.393+32_393+33insACAG) c.144+32_144+33insACAG (n.144+32_144+33insACAG) c.425_426insACAG (p.Pro143GlnfsTer17) c.423+32_423+33insACAG (n.423+32_423+33insACAG) c.474+32_474+33insACAG (n.474+32_474+33insACAG) |