Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.141331138G>A | CA3466613 | PCDHGA1 | c.454G>A (p.Val152Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141331138G>C | CA361340271 | PCDHGA1 | c.454G>C (p.Val152Leu) | dbSNP |
5 | g.141331138G= | CA1587148127 | PCDHGA1 | c.454G= (p.Val152=) | |
5 | g.141331138G>T | CA361340264 | PCDHGA1 | c.454G>T (p.Val152Phe) | |
5 | g.141331139T>A | CA361340278 | PCDHGA1 | c.455T>A (p.Val152Asp) | |
5 | g.141331139T>C | CA361340280 | PCDHGA1 | c.455T>C (p.Val152Ala) | |
5 | g.141331139T>G | CA361340281 | PCDHGA1 | c.455T>G (p.Val152Gly) | |
5 | g.141331140C>A | CA447044730 | PCDHGA1 | c.456C>A (p.Val152=) | |
5 | g.141331140C>G | CA447044731 | PCDHGA1 | c.456C>G (p.Val152=) | |
5 | g.141331140C>T | CA447044732 | PCDHGA1 | c.456C>T (p.Val152=) | |
5 | g.141331140_141331141delinsCT | CA1587148130 | PCDHGA1 | c.456_457delinsCT (p.Val152=) | |
5 | g.141331141del | CA804772704 | PCDHGA1 | c.457del (p.Ser153HisfsTer12) | dbSNP |
5 | g.141331141T>A | CA361340286 | PCDHGA1 | c.457T>A (p.Ser153Thr) | |
5 | g.141331141T>C | CA361340289 | PCDHGA1 | c.457T>C (p.Ser153Pro) | |
5 | g.141331141T>G | CA361340299 | PCDHGA1 | c.457T>G (p.Ser153Ala) | gnomAD v4 |
5 | g.141331142C>A | CA361340308 | PCDHGA1 | c.458C>A (p.Ser153Ter) | |
5 | g.141331142C= | CA1587148135 | PCDHGA1 | c.458C= (p.Ser153=) | |
5 | g.141331142C>G | CA361340312 | PCDHGA1 | c.458C>G (p.Ser153Ter) | |
5 | g.141331142C>T | CA128413527 | PCDHGA1 | c.458C>T (p.Ser153Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141331143A= | CA1587148139 | PCDHGA1 | c.459A= (p.Ser153=) | |
5 | g.141331143A>C | CA447044734 | PCDHGA1 | c.459A>C (p.Ser153=) | gnomAD v4 |
5 | g.141331143A>G | CA447044736 | PCDHGA1 | c.459A>G (p.Ser153=) | |
5 | g.141331143A>T | CA3466614 | PCDHGA1 | c.459A>T (p.Ser153=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141331144T>A | CA361340330 | PCDHGA1 | c.460T>A (p.Leu154Met) | |
5 | g.141331144T>C | CA447044738 | PCDHGA1 | c.460T>C (p.Leu154=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141331144T>G | CA361340327 | PCDHGA1 | c.460T>G (p.Leu154Val) | |
5 | g.141331144T= | CA1587148143 | PCDHGA1 | c.460T= (p.Leu154=) | |
5 | g.141331145T>A | CA361340337 | PCDHGA1 | c.461T>A (p.Leu154Ter) | |
5 | g.141331145T>C | CA361340346 | PCDHGA1 | c.461T>C (p.Leu154Ser) | |
5 | g.141331145T>G | CA361340339 | PCDHGA1 | c.461T>G (p.Leu154Trp) | |
5 | g.141331146G>A | CA447044739 | PCDHGA1 | c.462G>A (p.Leu154=) | |
5 | g.141331146G>C | CA361340350 | PCDHGA1 | c.462G>C (p.Leu154Phe) | |
5 | g.141331146G>T | CA361340351 | PCDHGA1 | c.462G>T (p.Leu154Phe) | |
5 | g.141331147C>A | CA361340352 | PCDHGA1 | c.463C>A (p.Pro155Thr) | dbSNP |
5 | g.141331147C= | CA1587148145 | PCDHGA1 | c.463C= (p.Pro155=) | |
5 | g.141331147C>G | CA361340353 | PCDHGA1 | c.463C>G (p.Pro155Ala) | gnomAD v4 |
5 | g.141331147C>T | CA3466615 | PCDHGA1 | c.463C>T (p.Pro155Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141331148C>A | CA361340354 | PCDHGA1 | c.464C>A (p.Pro155His) | |
5 | g.141331148C>G | CA361340355 | PCDHGA1 | c.464C>G (p.Pro155Arg) | |
5 | g.141331148C>T | CA361340357 | PCDHGA1 | c.464C>T (p.Pro155Leu) | |
5 | g.141331149T>A | CA447044741 | PCDHGA1 | c.465T>A (p.Pro155=) | |
5 | g.141331149T>C | CA447044743 | PCDHGA1 | c.465T>C (p.Pro155=) | |
5 | g.141331149T>G | CA447044742 | PCDHGA1 | c.465T>G (p.Pro155=) | |
5 | g.141331150T>A | CA361340361 | PCDHGA1 | c.466T>A (p.Phe156Ile) | |
5 | g.141331150T>C | CA361340363 | PCDHGA1 | c.466T>C (p.Phe156Leu) | |
5 | g.141331150T>G | CA361340370 | PCDHGA1 | c.466T>G (p.Phe156Val) | |
5 | g.141331151T>A | CA361340390 | PCDHGA1 | c.467T>A (p.Phe156Tyr) | |
5 | g.141331151T>C | CA361340387 | PCDHGA1 | c.467T>C (p.Phe156Ser) | |
5 | g.141331151T>G | CA361340382 | PCDHGA1 | c.467T>G (p.Phe156Cys) | |
5 | g.141331152T>A | CA361340394 | PCDHGA1 | c.468T>A (p.Phe156Leu) | gnomAD v4 |