| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254689_3254697del | CA2631355478 | MEFV | c.371_379del (p.Pro124_Asn127delinsHis) c.277+1614_277+1622del (n.277+1614_277+1622del) n.560_568del | gnomAD v4 |
| 16 | g.3254697G>A | CA394482051 | MEFV | c.371C>T (p.Pro124Leu) c.277+1614C>T (n.277+1614C>T) n.560C>T | |
| 16 | g.3254697G>C | CA394482061 | MEFV | c.371C>G (p.Pro124Arg) c.277+1614C>G (n.277+1614C>G) n.560C>G | dbSNP |
| 16 | g.3254697G>T | CA394482054 | MEFV | c.371C>A (p.Pro124His) c.277+1614C>A (n.277+1614C>A) n.560C>A | |
| 16 | g.3254698G>A | CA394482065 | MEFV | c.370C>T (p.Pro124Ser) c.277+1613C>T (n.277+1613C>T) n.559C>T | |
| 16 | g.3254698G>C | CA394482067 | MEFV | c.370C>G (p.Pro124Ala) c.277+1613C>G (n.277+1613C>G) n.559C>G | gnomAD v4 |
| 16 | g.3254698G>T | CA394482068 | MEFV | c.370C>A (p.Pro124Thr) c.277+1613C>A (n.277+1613C>A) n.559C>A | |
| 16 | g.3254699G>A | CA493384560 | MEFV | c.369C>T (p.His123=) c.277+1612C>T (n.277+1612C>T) n.558C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254699G>C | CA394482071 | MEFV | c.369C>G (p.His123Gln) c.277+1612C>G (n.277+1612C>G) n.558C>G | |
| 16 | g.3254699G= | CA2202664982 | MEFV | c.369C= (p.His123=) c.277+1612C= (n.277+1612C=) n.558C= | |
| 16 | g.3254699G>T | CA280902 | MEFV | c.369C>A (p.His123Gln) c.277+1612C>A (n.277+1612C>A) n.558C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254700T>A | CA394482077 | MEFV | c.368A>T (p.His123Leu) c.277+1611A>T (n.277+1611A>T) n.557A>T | ClinVar dbSNP |
| 16 | g.3254700T>C | CA7860447 | MEFV | c.368A>G (p.His123Arg) c.277+1611A>G (n.277+1611A>G) n.557A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254700T>G | CA394482082 | MEFV | c.368A>C (p.His123Pro) c.277+1611A>C (n.277+1611A>C) n.557A>C | dbSNP |
| 16 | g.3254700T= | CA2202664983 | MEFV | c.368A= (p.His123=) c.277+1611A= (n.277+1611A=) n.557A= | |
| 16 | g.3254701G>A | CA394482087 | MEFV | c.367C>T (p.His123Tyr) c.277+1610C>T (n.277+1610C>T) n.556C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3254701G>C | CA394482090 | MEFV | c.367C>G (p.His123Asp) c.277+1610C>G (n.277+1610C>G) n.556C>G | ClinVar dbSNP |
| 16 | g.3254701G= | CA2202664984 | MEFV | c.367C= (p.His123=) c.277+1610C= (n.277+1610C=) n.556C= | |
| 16 | g.3254701G>T | CA394482093 | MEFV | c.367C>A (p.His123Asn) c.277+1610C>A (n.277+1610C>A) n.556C>A | |
| 16 | g.3254702G>A | CA493384561 | MEFV | c.366C>T (p.Asp122=) c.277+1609C>T (n.277+1609C>T) n.555C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.3254702G>C | CA394482096 | MEFV | c.366C>G (p.Asp122Glu) c.277+1609C>G (n.277+1609C>G) n.555C>G | gnomAD v4 |
| 16 | g.3254702G= | CA2202664985 | MEFV | c.366C= (p.Asp122=) c.277+1609C= (n.277+1609C=) n.555C= | |
| 16 | g.3254702G>T | CA394482100 | MEFV | c.366C>A (p.Asp122Glu) c.277+1609C>A (n.277+1609C>A) n.555C>A | dbSNP gnomAD v2 |
| 16 | g.3254703T>A | CA394482102 | MEFV | c.365A>T (p.Asp122Val) c.277+1608A>T (n.277+1608A>T) n.554A>T | |
| 16 | g.3254703T>C | CA10577527 | MEFV | c.365A>G (p.Asp122Gly) c.277+1608A>G (n.277+1608A>G) n.554A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254703T>G | CA394482105 | MEFV | c.365A>C (p.Asp122Ala) c.277+1608A>C (n.277+1608A>C) n.554A>C | |
| 16 | g.3254703T= | CA2202664986 | MEFV | c.365A= (p.Asp122=) c.277+1608A= (n.277+1608A=) n.554A= | |
| 16 | g.3254704C>A | CA394482122 | MEFV | c.364G>T (p.Asp122Tyr) c.277+1607G>T (n.277+1607G>T) n.553G>T | |
| 16 | g.3254704C>G | CA394482130 | MEFV | c.364G>C (p.Asp122His) c.277+1607G>C (n.277+1607G>C) n.553G>C | gnomAD v4 |
| 16 | g.3254704C>T | CA394482126 | MEFV | c.364G>A (p.Asp122Asn) c.277+1607G>A (n.277+1607G>A) n.553G>A | |
| 16 | g.3254705T>A | CA493384562 | MEFV | c.363A>T (p.Pro121=) c.277+1606A>T (n.277+1606A>T) n.552A>T | |
| 16 | g.3254705T>C | CA7860448 | MEFV | c.363A>G (p.Pro121=) c.277+1606A>G (n.277+1606A>G) n.552A>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.3254705T>G | CA493384563 | MEFV | c.363A>C (p.Pro121=) c.277+1606A>C (n.277+1606A>C) n.552A>C | ClinVar gnomAD v4 |
| 16 | g.3254705T= | CA2202664987 | MEFV | c.363A= (p.Pro121=) c.277+1606A= (n.277+1606A=) n.552A= | |
| 16 | g.3254705_3254708dup | CA2631355507 | MEFV | c.360_363dup (p.Asp122SerfsTer?) c.277+1603_277+1606dup (n.277+1603_277+1606dup) n.549_552dup | gnomAD v4 |
| 16 | g.3254706G>A | CA394482137 | MEFV | c.362C>T (p.Pro121Leu) c.277+1605C>T (n.277+1605C>T) n.551C>T | |
| 16 | g.3254706G>C | CA394482141 | MEFV | c.362C>G (p.Pro121Arg) c.277+1605C>G (n.277+1605C>G) n.551C>G | |
| 16 | g.3254706G>T | CA394482144 | MEFV | c.362C>A (p.Pro121Gln) c.277+1605C>A (n.277+1605C>A) n.551C>A | |
| 16 | g.3254707G>A | CA394482147 | MEFV | c.361C>T (p.Pro121Ser) c.277+1604C>T (n.277+1604C>T) n.550C>T | |
| 16 | g.3254707G>C | CA394482149 | MEFV | c.361C>G (p.Pro121Ala) c.277+1604C>G (n.277+1604C>G) n.550C>G | |
| 16 | g.3254707G>T | CA394482154 | MEFV | c.361C>A (p.Pro121Thr) c.277+1604C>A (n.277+1604C>A) n.550C>A | |
| 16 | g.3254708A>C | CA493384564 | MEFV | c.360T>G (p.Thr120=) c.277+1603T>G (n.277+1603T>G) n.549T>G | |
| 16 | g.3254708A>G | CA493384565 | MEFV | c.360T>C (p.Thr120=) c.277+1603T>C (n.277+1603T>C) n.549T>C | |
| 16 | g.3254708A>T | CA493384566 | MEFV | c.360T>A (p.Thr120=) c.277+1603T>A (n.277+1603T>A) n.549T>A | |
| 16 | g.3254709G>A | CA7860449 | MEFV | c.359C>T (p.Thr120Ile) c.277+1602C>T (n.277+1602C>T) n.548C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254709G>C | CA394482166 | MEFV | c.359C>G (p.Thr120Ser) c.277+1602C>G (n.277+1602C>G) n.548C>G | |
| 16 | g.3254709G= | CA2202664988 | MEFV | c.359C= (p.Thr120=) c.277+1602C= (n.277+1602C=) n.548C= | |
| 16 | g.3254709G>T | CA394482168 | MEFV | c.359C>A (p.Thr120Asn) c.277+1602C>A (n.277+1602C>A) n.548C>A | |
| 16 | g.3254710T>A | CA394482169 | MEFV | c.358A>T (p.Thr120Ser) c.277+1601A>T (n.277+1601A>T) n.547A>T | |
| 16 | g.3254710T>C | CA7860450 | MEFV | c.358A>G (p.Thr120Ala) c.277+1601A>G (n.277+1601A>G) n.547A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |