| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42360059_42360063delinsCCTCT | CA2172697431 | CAPN3 | c.254_258delinsCCTCT (p.Thr85=) n.540+5606_540+5610delinsCCTCT | |
| 15 | g.42360066_42360067dup | CA2628027762 | CAPN3 | c.261_262dup (p.Phe88SerfsTer?) n.540+5613_540+5614dup | gnomAD v4 |
| 15 | g.42360066_42360067del | CA618001482 | CAPN3 | c.261_262del (p.Phe88LeufsTer2) n.540+5613_540+5614del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42360064_42360067del | CA7510878 | CAPN3 | c.259_262del (p.Leu87PhefsTer?) n.540+5611_540+5614del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42360061_42360062delinsTC | CA2172697433 | CAPN3 | c.256_257delinsTC (p.Ser86=) n.540+5608_540+5609delinsTC | |
| 15 | g.42360062del | CA618001483 | CAPN3 | c.257del (p.Ser86PhefsTer?) n.540+5609del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42360062C>A | CA391995090 | CAPN3 | c.257C>A (p.Ser86Tyr) n.540+5609C>A | |
| 15 | g.42360062C= | CA2172697434 | CAPN3 | c.257C= (p.Ser86=) n.540+5609C= | |
| 15 | g.42360062C>G | CA391995092 | CAPN3 | c.257C>G (p.Ser86Cys) n.540+5609C>G | |
| 15 | g.42360062C>T | CA341473 | CAPN3 | c.257C>T (p.Ser86Phe) n.540+5609C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42360063T>A | CA489999239 | CAPN3 | c.258T>A (p.Ser86=) n.540+5610T>A | |
| 15 | g.42360063T>C | CA489999241 | CAPN3 | c.258T>C (p.Ser86=) n.540+5610T>C | ClinVar dbSNP |
| 15 | g.42360063T>G | CA489999244 | CAPN3 | c.258T>G (p.Ser86=) n.540+5610T>G | |
| 15 | g.42360063dup | CA7510881 | CAPN3 | c.258dup (p.Leu87SerfsTer4) n.540+5610dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42360064C>A | CA391995100 | CAPN3 | c.259C>A (p.Leu87Ile) n.540+5611C>A | |
| 15 | g.42360064C= | CA2172697435 | CAPN3 | c.259C= (p.Leu87=) n.540+5611C= | |
| 15 | g.42360064C>G | CA7510882 | CAPN3 | c.259C>G (p.Leu87Val) n.540+5611C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42360064C>T | CA391995099 | CAPN3 | c.259C>T (p.Leu87Phe) n.540+5611C>T | dbSNP |
| 15 | g.42360064_42360070delinsCTCTTTT | CA2172697436 | CAPN3 | c.259_265delinsCTCTTTT (p.Leu87=) n.540+5611_540+5617delinsCTCTTTT | |
| 15 | g.42360065T>A | CA391995103 | CAPN3 | c.260T>A (p.Leu87His) n.540+5612T>A | |
| 15 | g.42360065T>C | CA391995105 | CAPN3 | c.260T>C (p.Leu87Pro) n.540+5612T>C | gnomAD v4 |
| 15 | g.42360065T>G | CA391995107 | CAPN3 | c.260T>G (p.Leu87Arg) n.540+5612T>G | |
| 15 | g.42360065dup | CA2695219980 | CAPN3 | c.260dup (p.Phe88LeufsTer3) n.540+5612dup | |
| 15 | g.42360065_42360070del | CA618001484 | CAPN3 | c.260_265del (p.Leu87_Tyr89delinsHis) n.540+5612_540+5617del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42360065_42360070delinsGA | CA2695219981 | CAPN3 | c.260_265delinsGA (p.Leu87ArgfsTer?) n.540+5612_540+5617delinsGA | |
| 15 | g.42360066C>A | CA489999250 | CAPN3 | c.261C>A (p.Leu87=) n.540+5613C>A | |
| 15 | g.42360066C>G | CA489999251 | CAPN3 | c.261C>G (p.Leu87=) n.540+5613C>G | |
| 15 | g.42360066C>T | CA489999252 | CAPN3 | c.261C>T (p.Leu87=) n.540+5613C>T | |
| 15 | g.42360067T>A | CA391995110 | CAPN3 | c.262T>A (p.Phe88Ile) n.540+5614T>A | |
| 15 | g.42360067T>C | CA391995112 | CAPN3 | c.262T>C (p.Phe88Leu) n.540+5614T>C | |
| 15 | g.42360067T>G | CA391995114 | CAPN3 | c.262T>G (p.Phe88Val) n.540+5614T>G | |
| 15 | g.42360069_42360070del | CA2573150743 | CAPN3 | c.264_265del (p.Phe88LeufsTer2) n.540+5616_540+5617del | ClinVar dbSNP |
| 15 | g.42360068T>A | CA391995116 | CAPN3 | c.263T>A (p.Phe88Tyr) n.540+5615T>A | |
| 15 | g.42360068T>C | CA7510883 | CAPN3 | c.263T>C (p.Phe88Ser) n.540+5615T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42360068T>G | CA391995119 | CAPN3 | c.263T>G (p.Phe88Cys) n.540+5615T>G | |
| 15 | g.42360068T= | CA2172697437 | CAPN3 | c.263T= (p.Phe88=) n.540+5615T= | |
| 15 | g.42360069T>A | CA391995121 | CAPN3 | c.264T>A (p.Phe88Leu) n.540+5616T>A | |
| 15 | g.42360069T>C | CA489999265 | CAPN3 | c.264T>C (p.Phe88=) n.540+5616T>C | |
| 15 | g.42360069T>G | CA238547 | CAPN3 | c.264T>G (p.Phe88Leu) n.540+5616T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42360069T= | CA2172697438 | CAPN3 | c.264T= (p.Phe88=) n.540+5616T= | |
| 15 | g.42360070T>A | CA391995123 | CAPN3 | c.265T>A (p.Tyr89Asn) n.540+5617T>A | |
| 15 | g.42360070T>C | CA391995125 | CAPN3 | c.265T>C (p.Tyr89His) n.540+5617T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.42360070T>G | CA391995127 | CAPN3 | c.265T>G (p.Tyr89Asp) n.540+5617T>G | |
| 15 | g.42360070T= | CA2172697439 | CAPN3 | c.265T= (p.Tyr89=) n.540+5617T= | |
| 15 | g.42360070_42360071insGA | CA618001485 | CAPN3 | c.265_266insGA (p.Tyr89Ter) n.540+5617_540+5618insGA | dbSNP gnomAD v2 |
| 15 | g.42360071A= | CA2172697440 | CAPN3 | c.266A= (p.Tyr89=) n.540+5618A= | |
| 15 | g.42360071A>C | CA391995129 | CAPN3 | c.266A>C (p.Tyr89Ser) n.540+5618A>C | |
| 15 | g.42360071A>G | CA391995131 | CAPN3 | c.266A>G (p.Tyr89Cys) n.540+5618A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42360071A>T | CA391995133 | CAPN3 | c.266A>T (p.Tyr89Phe) n.540+5618A>T | |
| 15 | g.42360072T>A | CA391995135 | CAPN3 | c.267T>A (p.Tyr89Ter) n.540+5619T>A |