| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.6872563C>A | CA414969604 | AMELY | c.46G>T (p.Ala16Ser) | |
| Y | g.6872563C>G | CA414969607 | AMELY | c.46G>C (p.Ala16Pro) | |
| Y | g.6872563C>T | CA414969610 | AMELY | c.46G>A (p.Ala16Thr) | |
| Y | g.6872564A>C | CA414969617 | AMELY | c.45T>G (p.Phe15Leu) | |
| Y | g.6872564A>G | CA519498453 | AMELY | c.45T>C (p.Phe15=) | |
| Y | g.6872564A>T | CA414969619 | AMELY | c.45T>A (p.Phe15Leu) | |
| Y | g.6872565A>C | CA414969624 | AMELY | c.44T>G (p.Phe15Cys) | |
| Y | g.6872565A>G | CA414969626 | AMELY | c.44T>C (p.Phe15Ser) | |
| Y | g.6872565A>T | CA414969622 | AMELY | c.44T>A (p.Phe15Tyr) | |
| Y | g.6872566A>C | CA414969628 | AMELY | c.43T>G (p.Phe15Val) | COSMIC |
| Y | g.6872566A>G | CA414969632 | AMELY | c.43T>C (p.Phe15Leu) | |
| Y | g.6872566A>T | CA414969630 | AMELY | c.43T>A (p.Phe15Ile) | |
| Y | g.6872567A= | CA2469903471 | AMELY | c.42T= (p.Ala14=) | |
| Y | g.6872567A>C | CA519498460 | AMELY | c.42T>G (p.Ala14=) | |
| Y | g.6872567A>G | CA519498461 | AMELY | c.42T>C (p.Ala14=) | dbSNP gnomAD v2 |
| Y | g.6872567A>T | CA519498463 | AMELY | c.42T>A (p.Ala14=) | |
| Y | g.6872568G>A | CA414969634 | AMELY | c.41C>T (p.Ala14Val) | |
| Y | g.6872568G>C | CA414969637 | AMELY | c.41C>G (p.Ala14Gly) | |
| Y | g.6872568G>T | CA414969636 | AMELY | c.41C>A (p.Ala14Asp) | |
| Y | g.6872569C>A | CA414969640 | AMELY | c.40G>T (p.Ala14Ser) | |
| Y | g.6872569C>G | CA414969643 | AMELY | c.40G>C (p.Ala14Pro) | |
| Y | g.6872569C>T | CA414969642 | AMELY | c.40G>A (p.Ala14Thr) | gnomAD v3 gnomAD v4 |
| Y | g.6872570T>A | CA519498468 | AMELY | c.39A>T (p.Ala13=) | |
| Y | g.6872570T>C | CA519498470 | AMELY | c.39A>G (p.Ala13=) | |
| Y | g.6872570T>G | CA519498471 | AMELY | c.39A>C (p.Ala13=) | |
| Y | g.6872571G>A | CA414969645 | AMELY | c.38C>T (p.Ala13Val) | |
| Y | g.6872571G>C | CA414969647 | AMELY | c.38C>G (p.Ala13Gly) | |
| Y | g.6872571G>T | CA414969649 | AMELY | c.38C>A (p.Ala13Glu) | |
| 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) |