Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.42360064_42360070delinsCTCTTTT | CA2172697436 | CAPN3 | c.259_265delinsCTCTTTT (p.Leu87=) n.540+5611_540+5617delinsCTCTTTT | |
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.42360069_42360070del | CA2573150743 | CAPN3 | c.264_265del (p.Phe88LeufsTer2) n.540+5616_540+5617del | ClinVar dbSNP |
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 | |
15 | g.42360072T>C | CA7510884 | CAPN3 | c.267T>C (p.Tyr89=) n.540+5619T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42360072T>G | CA391995139 | CAPN3 | c.267T>G (p.Tyr89Ter) n.540+5619T>G | |
15 | g.42360072T= | CA2172697441 | CAPN3 | c.267T= (p.Tyr89=) n.540+5619T= | |
15 | g.42360073A>C | CA391995141 | CAPN3 | c.268A>C (p.Ser90Arg) n.540+5620A>C | |
15 | g.42360073A>G | CA391995143 | CAPN3 | c.268A>G (p.Ser90Gly) n.540+5620A>G | |
15 | g.42360073A>T | CA391995145 | CAPN3 | c.268A>T (p.Ser90Cys) n.540+5620A>T | |
15 | g.42360074G>A | CA391995149 | CAPN3 | c.269G>A (p.Ser90Asn) n.540+5621G>A | |
15 | g.42360074G>C | CA391995152 | CAPN3 | c.269G>C (p.Ser90Thr) n.540+5621G>C | |
15 | g.42360074G>T | CA391995148 | CAPN3 | c.269G>T (p.Ser90Ile) n.540+5621G>T | |
15 | g.42360075C>A | CA391995154 | CAPN3 | c.270C>A (p.Ser90Arg) n.540+5622C>A | |
15 | g.42360075C= | CA2172697442 | CAPN3 | c.270C= (p.Ser90=) n.540+5622C= | |
15 | g.42360075C>G | CA391995156 | CAPN3 | c.270C>G (p.Ser90Arg) n.540+5622C>G | |
15 | g.42360075C>T | CA7510885 | CAPN3 | c.270C>T (p.Ser90=) n.540+5622C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42360076C>A | CA391995160 | CAPN3 | c.271C>A (p.Gln91Lys) n.540+5623C>A | |
15 | g.42360076C>G | CA391995162 | CAPN3 | c.271C>G (p.Gln91Glu) n.540+5623C>G | |
15 | g.42360076C>T | CA391995164 | CAPN3 | c.271C>T (p.Gln91Ter) n.540+5623C>T | gnomAD v4 |
15 | g.42360077A= | CA2172697443 | CAPN3 | c.272A= (p.Gln91=) n.540+5624A= | |
15 | g.42360077A>C | CA391995167 | CAPN3 | c.272A>C (p.Gln91Pro) n.540+5624A>C | |
15 | g.42360077A>G | CA391995170 | CAPN3 | c.272A>G (p.Gln91Arg) n.540+5624A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42360077A>T | CA391995168 | CAPN3 | c.272A>T (p.Gln91Leu) n.540+5624A>T | |
15 | g.42360078G>A | CA489878140 | CAPN3 | c.273G>A (p.Gln91=) n.540+5625G>A | |
15 | g.42360078G>C | CA391995173 | CAPN3 | c.273G>C (p.Gln91His) n.540+5625G>C | |
15 | g.42360078G>T | CA391995174 | CAPN3 | c.273G>T (p.Gln91His) n.540+5625G>T | |
15 | g.42360082_42360105del | CA2695219982 | CAPN3 | c.277_300del (p.Phe93_Lys100del) n.540+5629_540+5652del | |
15 | g.42360079A>C | CA391995177 | CAPN3 | c.274A>C (p.Lys92Gln) n.540+5626A>C | |
15 | g.42360079A>G | CA391995178 | CAPN3 | c.274A>G (p.Lys92Glu) n.540+5626A>G | |
15 | g.42360079A>T | CA391995180 | CAPN3 | c.274A>T (p.Lys92Ter) n.540+5626A>T | |
15 | g.42360080del | CA2695219983 | CAPN3 | c.275del (p.Lys92SerfsTer?) n.540+5627del | |
15 | g.42360080A>C | CA391995185 | CAPN3 | c.275A>C (p.Lys92Thr) n.540+5627A>C | |
15 | g.42360080A>G | CA391995187 | CAPN3 | c.275A>G (p.Lys92Arg) n.540+5627A>G | |
15 | g.42360080A>T | CA391995183 | CAPN3 | c.275A>T (p.Lys92Met) n.540+5627A>T | |
15 | g.42360081G>A | CA489878141 | CAPN3 | c.276G>A (p.Lys92=) n.540+5628G>A |