Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.6872572C>A | CA414969651 | AMELY | c.37G>T (p.Ala13Ser) | |
Y | g.6872572C= | CA2469903472 | AMELY | c.37G= (p.Ala13=) | |
Y | g.6872572C>G | CA414969653 | AMELY | c.37G>C (p.Ala13Pro) | |
Y | g.6872572C>T | CA10571983 | AMELY | c.37G>A (p.Ala13Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.6872573T>A | CA519498477 | AMELY | c.36A>T (p.Gly12=) | |
Y | g.6872573T>C | CA519498479 | AMELY | c.36A>G (p.Gly12=) | |
Y | g.6872573T>G | CA519498480 | AMELY | c.36A>C (p.Gly12=) | |
Y | g.6872574C>A | CA414969656 | AMELY | c.35G>T (p.Gly12Val) | |
Y | g.6872574C= | CA2469903473 | AMELY | c.35G= (p.Gly12=) | |
Y | g.6872574C>G | CA10571984 | AMELY | c.35G>C (p.Gly12Ala) | dbSNP ExAC gnomAD v2 |
Y | g.6872574C>T | CA414969659 | AMELY | c.35G>A (p.Gly12Glu) | |
Y | g.6872575C>A | CA414969661 | AMELY | c.34G>T (p.Gly12Ter) | |
Y | g.6872575C= | CA2469903474 | AMELY | c.34G= (p.Gly12=) | |
Y | g.6872575C>G | CA414969663 | AMELY | c.34G>C (p.Gly12Arg) | |
Y | g.6872575C>T | CA337550993 | AMELY | c.34G>A (p.Gly12Arg) | dbSNP gnomAD v2 |
Y | g.6872576C>A | CA519498492 | AMELY | c.33G>T (p.Val11=) | |
Y | g.6872576C>G | CA519498491 | AMELY | c.33G>C (p.Val11=) | |
Y | g.6872576C>T | CA519498489 | AMELY | c.33G>A (p.Val11=) | |
Y | g.6872577A>C | CA414969670 | AMELY | c.32T>G (p.Val11Gly) | |
Y | g.6872577A>G | CA414969667 | AMELY | c.32T>C (p.Val11Ala) | |
Y | g.6872577A>T | CA414969669 | AMELY | c.32T>A (p.Val11Glu) | |
Y | g.6872578C>A | CA414969673 | AMELY | c.31G>T (p.Val11Leu) | |
Y | g.6872578C>G | CA414969676 | AMELY | c.31G>C (p.Val11Leu) | |
Y | g.6872578C>T | CA414969678 | AMELY | c.31G>A (p.Val11Met) | |
Y | g.6872579A>C | CA519498501 | AMELY | c.30T>G (p.Leu10=) | |
Y | g.6872579A>G | CA519498500 | AMELY | c.30T>C (p.Leu10=) | |
Y | g.6872579A>T | CA519498498 | AMELY | c.30T>A (p.Leu10=) | |
Y | g.6872580A>C | CA414969682 | AMELY | c.29T>G (p.Leu10Arg) | |
Y | g.6872580A>G | CA414969684 | AMELY | c.29T>C (p.Leu10Pro) | |
Y | g.6872580A>T | CA414969686 | AMELY | c.29T>A (p.Leu10His) | |
Y | g.6872581G>A | CA414969688 | AMELY | c.28C>T (p.Leu10Phe) | |
Y | g.6872581G>C | CA414969690 | AMELY | c.28C>G (p.Leu10Val) | |
Y | g.6872581G>T | CA414969693 | AMELY | c.28C>A (p.Leu10Ile) | |
Y | g.6872582G>A | CA519498507 | AMELY | c.27C>T (p.Cys9=) | |
Y | g.6872582G>C | CA414969696 | AMELY | c.27C>G (p.Cys9Trp) | |
Y | g.6872582G>T | CA414969697 | AMELY | c.27C>A (p.Cys9Ter) | |
Y | g.6872583C>A | CA414969701 | AMELY | c.26G>T (p.Cys9Phe) | |
Y | g.6872583C>G | CA414969706 | AMELY | c.26G>C (p.Cys9Ser) | |
Y | g.6872583C>T | CA414969703 | AMELY | c.26G>A (p.Cys9Tyr) | |
Y | g.6872584A>C | CA414969709 | AMELY | c.25T>G (p.Cys9Gly) | |
Y | g.6872584A>G | CA414969711 | AMELY | c.25T>C (p.Cys9Arg) | |
Y | g.6872584A>T | CA414969715 | AMELY | c.25T>A (p.Cys9Ser) | |
Y | g.6872585G>A | CA519498515 | AMELY | c.24C>T (p.Ala8=) | |
Y | g.6872585G>C | CA519498517 | AMELY | c.24C>G (p.Ala8=) | |
Y | g.6872585G>T | CA519498518 | AMELY | c.24C>A (p.Ala8=) | |
Y | g.6872586G>A | CA414969717 | AMELY | c.23C>T (p.Ala8Val) | |
Y | g.6872586G>C | CA414969720 | AMELY | c.23C>G (p.Ala8Gly) | |
Y | g.6872586G>T | CA414969722 | AMELY | c.23C>A (p.Ala8Asp) | |
Y | g.6872587C>A | CA414969724 | AMELY | c.22G>T (p.Ala8Ser) | COSMIC |
Y | g.6872587C>G | CA414969726 | AMELY | c.22G>C (p.Ala8Pro) |