Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240603152_240603186del | CA68139506 | CAPN10 | c.274-13236_274-13202del (n.274-13236_274-13202del) c.167-3235_167-3201del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603166_240603200dup | CA540546244 | CAPN10 | c.274-13222_274-13188dup (n.274-13222_274-13188dup) c.167-3221_167-3187dup | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603187C= | CA1339197704 | CAPN10 | c.274-13201C= (n.274-13201C=) c.167-3200C= | |
2 | g.240603187C>T | CA540546255 | CAPN10 | c.274-13201C>T (n.274-13201C>T) c.167-3200C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603188G>A | CA68139522 | CAPN10 | c.274-13200G>A (n.274-13200G>A) c.167-3199G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603188G= | CA1339197705 | CAPN10 | c.274-13200G= (n.274-13200G=) c.167-3199G= | |
2 | g.240603190G>A | CA68139526 | CAPN10 | c.274-13198G>A (n.274-13198G>A) c.167-3197G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240603190G= | CA1339197706 | CAPN10 | c.274-13198G= (n.274-13198G=) c.167-3197G= | |
2 | g.240603190G>T | CA540546257 | CAPN10 | c.274-13198G>T (n.274-13198G>T) c.167-3197G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603192C= | CA1339197707 | CAPN10 | c.274-13196C= (n.274-13196C=) c.167-3195C= | |
2 | g.240603192C>T | CA68139527 | CAPN10 | c.274-13196C>T (n.274-13196C>T) c.167-3195C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603193C= | CA1339197708 | CAPN10 | c.274-13195C= (n.274-13195C=) c.167-3194C= | |
2 | g.240603193C>G | CA540546266 | CAPN10 | c.274-13195C>G (n.274-13195C>G) c.167-3194C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603193C>T | CA540546263 | CAPN10 | c.274-13195C>T (n.274-13195C>T) c.167-3194C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603194G>A | CA68139531 | CAPN10 | c.274-13194G>A (n.274-13194G>A) c.167-3193G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240603194G= | CA1339197709 | CAPN10 | c.274-13194G= (n.274-13194G=) c.167-3193G= | |
2 | g.240603194G>T | CA540546269 | CAPN10 | c.274-13194G>T (n.274-13194G>T) c.167-3193G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603195C>A | CA68139538 | CAPN10 | c.274-13193C>A (n.274-13193C>A) c.167-3192C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603195C= | CA1339197710 | CAPN10 | c.274-13193C= (n.274-13193C=) c.167-3192C= | |
2 | g.240603195C>T | CA540546278 | CAPN10 | c.274-13193C>T (n.274-13193C>T) c.167-3192C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603199C= | CA1339197711 | CAPN10 | c.274-13189C= (n.274-13189C=) c.167-3188C= | |
2 | g.240603199C>G | CA68139539 | CAPN10 | c.274-13189C>G (n.274-13189C>G) c.167-3188C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240603201A= | CA1339197712 | CAPN10 | c.274-13187A= (n.274-13187A=) c.167-3186A= | |
2 | g.240603201A>T | CA766892628 | CAPN10 | c.274-13187A>T (n.274-13187A>T) c.167-3186A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240603204C= | CA1339197713 | CAPN10 | c.274-13184C= (n.274-13184C=) c.167-3183C= | |
2 | g.240603204C>G | CA540546282 | CAPN10 | c.274-13184C>G (n.274-13184C>G) c.167-3183C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603213C= | CA1339197714 | CAPN10 | c.274-13175C= (n.274-13175C=) c.167-3174C= | |
2 | g.240603213C>T | CA540546285 | CAPN10 | c.274-13175C>T (n.274-13175C>T) c.167-3174C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603214T>A | CA2754882875 | CAPN10 | c.274-13174T>A (n.274-13174T>A) c.167-3173T>A | |
2 | g.240603217A= | CA1339197715 | CAPN10 | c.274-13171A= (n.274-13171A=) c.167-3170A= | |
2 | g.240603217A>G | CA540546286 | CAPN10 | c.274-13171A>G (n.274-13171A>G) c.167-3170A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603219G>A | CA766892636 | CAPN10 | c.274-13169G>A (n.274-13169G>A) c.167-3168G>A | dbSNP |
2 | g.240603219G= | CA1339197716 | CAPN10 | c.274-13169G= (n.274-13169G=) c.167-3168G= | |
2 | g.240603220T>A | CA1339197718 | CAPN10 | c.274-13168T>A (n.274-13168T>A) c.167-3167T>A | dbSNP |
2 | g.240603220T= | CA1339197717 | CAPN10 | c.274-13168T= (n.274-13168T=) c.167-3167T= | |
2 | g.240603224T>G | CA540546287 | CAPN10 | c.274-13164T>G (n.274-13164T>G) c.167-3163T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603224T= | CA1339197719 | CAPN10 | c.274-13164T= (n.274-13164T=) c.167-3163T= | |
2 | g.240603226A= | CA1339197720 | CAPN10 | c.274-13162A= (n.274-13162A=) c.167-3161A= | |
2 | g.240603226A>C | CA766892649 | CAPN10 | c.274-13162A>C (n.274-13162A>C) c.167-3161A>C | dbSNP |
2 | g.240603226A>T | CA540546290 | CAPN10 | c.274-13162A>T (n.274-13162A>T) c.167-3161A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603227C= | CA1339197721 | CAPN10 | c.274-13161C= (n.274-13161C=) c.167-3160C= | |
2 | g.240603227C>T | CA68139543 | CAPN10 | c.274-13161C>T (n.274-13161C>T) c.167-3160C>T | dbSNP |
2 | g.240603232C= | CA1339197722 | CAPN10 | c.274-13156C= (n.274-13156C=) c.167-3155C= | |
2 | g.240603232C>G | CA68139549 | CAPN10 | c.274-13156C>G (n.274-13156C>G) c.167-3155C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240603233A= | CA1339197723 | CAPN10 | c.274-13155A= (n.274-13155A=) c.167-3154A= | |
2 | g.240603233A>G | CA68139552 | CAPN10 | c.274-13155A>G (n.274-13155A>G) c.167-3154A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240603234C= | CA1339197724 | CAPN10 | c.274-13154C= (n.274-13154C=) c.167-3153C= | |
2 | g.240603234C>G | CA1044056470 | CAPN10 | c.274-13154C>G (n.274-13154C>G) c.167-3153C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240603234C>T | CA2754882876 | CAPN10 | c.274-13154C>T (n.274-13154C>T) c.167-3153C>T | |
2 | g.240603236C= | CA1339197725 | CAPN10 | c.274-13152C= (n.274-13152C=) c.167-3151C= |