| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |