| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.6872507C= | CA2469903456 | AMELY | c.54+48G= (n.54+48G=) | |
| Y | g.6872507C>G | CA645286347 | AMELY | c.54+48G>C (n.54+48G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6872508C= | CA2469903457 | AMELY | c.54+47G= (n.54+47G=) | |
| Y | g.6872508C>T | CA10571978 | AMELY | c.54+47G>A (n.54+47G>A) | dbSNP ExAC gnomAD v2 |
| Y | g.6872510C>G | CA2563574192 | AMELY | c.54+45G>C (n.54+45G>C) | |
| Y | g.6872510C>T | CA2579746886 | AMELY | c.54+45G>A (n.54+45G>A) | |
| Y | g.6872511G>A | CA10571979 | AMELY | c.54+44C>T (n.54+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6872511G= | CA2469903458 | AMELY | c.54+44C= (n.54+44C=) | |
| Y | g.6872512T>C | CA645286348 | AMELY | c.54+43A>G (n.54+43A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6872512T= | CA2469903459 | AMELY | c.54+43A= (n.54+43A=) | |
| Y | g.6872516_6872517delinsTA | CA2469903460 | AMELY | c.54+38_54+39delinsTA (n.54+38_54+39delinsTA) | |
| Y | g.6872519del | CA10571980 | AMELY | c.54+38del (n.54+38del) | dbSNP ExAC gnomAD v2 |
| Y | g.6872523G>A | CA2579746887 | AMELY | c.54+32C>T (n.54+32C>T) | |
| Y | g.6872523_6872524delinsGA | CA2469903461 | AMELY | c.54+31_54+32delinsTC (n.54+31_54+32delinsTC) | |
| Y | g.6872524del | CA645286349 | AMELY | c.54+31del (n.54+31del) | dbSNP gnomAD v2 |
| Y | g.6872527C= | CA2469903462 | AMELY | c.54+28G= (n.54+28G=) | |
| Y | g.6872527C>T | CA645286350 | AMELY | c.54+28G>A (n.54+28G>A) | dbSNP gnomAD v2 |
| Y | g.6872533A= | CA2469903463 | AMELY | c.54+22T= (n.54+22T=) | |
| Y | g.6872533A>G | CA337550990 | AMELY | c.54+22T>C (n.54+22T>C) | dbSNP |
| Y | g.6872534T>C | CA10571981 | AMELY | c.54+21A>G (n.54+21A>G) | dbSNP ExAC gnomAD v2 |
| Y | g.6872534T= | CA2469903464 | AMELY | c.54+21A= (n.54+21A=) | |
| Y | g.6872535G= | CA2469903465 | AMELY | c.54+20C= (n.54+20C=) | |
| Y | g.6872535G>T | CA337550991 | AMELY | c.54+20C>A (n.54+20C>A) | dbSNP |
| Y | g.6872536C= | CA2469903466 | AMELY | c.54+19G= (n.54+19G=) | |
| Y | g.6872536C>G | CA10571982 | AMELY | c.54+19G>C (n.54+19G>C) | dbSNP ExAC gnomAD v2 |
| Y | g.6872537A>G | CA2766273058 | AMELY | c.54+18T>C (n.54+18T>C) | |
| Y | g.6872539A= | CA2469903467 | AMELY | c.54+16T= (n.54+16T=) | |
| Y | g.6872539A>G | CA1138822817 | AMELY | c.54+16T>C (n.54+16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6872539_6872540delinsAG | CA2469903468 | AMELY | c.54+15_54+16delinsCT (n.54+15_54+16delinsCT) | |
| Y | g.6872540del | CA1138822820 | AMELY | c.54+15del (n.54+15del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6872544G>A | CA2766273059 | AMELY | c.54+11C>T (n.54+11C>T) | |
| Y | g.6872548del | CA2579746888 | AMELY | c.54+10del (n.54+10del) | |
| Y | g.6872552C>A | CA2565281136 | AMELY | c.54+3G>T (n.54+3G>T) | |
| Y | g.6872552C= | CA2469903469 | AMELY | c.54+3G= (n.54+3G=) | |
| Y | g.6872552C>G | CA519498425 | AMELY | c.54+3G>C (n.54+3G>C) | |
| Y | g.6872552C>T | CA645286351 | AMELY | c.54+3G>A (n.54+3G>A) | dbSNP gnomAD v2 |
| Y | g.6872554_6872555del | CA2579746889 | AMELY | c.54+2_54+3del | |
| Y | g.6872553A>C | CA414969542 | AMELY | c.54+2T>G (n.54+2T>G) | |
| Y | g.6872553A>G | CA414969540 | AMELY | c.54+2T>C (n.54+2T>C) | |
| Y | g.6872553A>T | CA414969537 | AMELY | c.54+2T>A (n.54+2T>A) | |
| Y | g.6872554C>A | CA414969547 | AMELY | c.54+1G>T (n.54+1G>T) | |
| Y | g.6872554C>G | CA414969548 | AMELY | c.54+1G>C (n.54+1G>C) | |
| Y | g.6872554C>T | CA414969551 | AMELY | c.54+1G>A (n.54+1G>A) | |
| Y | g.6872555A>C | CA519498431 | AMELY | c.54T>G (p.Pro18=) | |
| Y | g.6872555A>G | CA519498432 | AMELY | c.54T>C (p.Pro18=) | |
| Y | g.6872555A>T | CA519498434 | AMELY | c.54T>A (p.Pro18=) | |
| Y | g.6872556G>A | CA414969558 | AMELY | c.53C>T (p.Pro18Leu) | |
| Y | g.6872556G>C | CA414969561 | AMELY | c.53C>G (p.Pro18Arg) | |
| Y | g.6872556G>T | CA414969564 | AMELY | c.53C>A (p.Pro18His) | |
| Y | g.6872557G>A | CA414969567 | AMELY | c.52C>T (p.Pro18Ser) | |
| Y | g.6872557G>C | CA414969569 | AMELY | c.52C>G (p.Pro18Ala) | |
| Y | g.6872557G>T | CA414969572 | AMELY | c.52C>A (p.Pro18Thr) | |
| Y | g.6872558C>A | CA337550992 | AMELY | c.51G>T (p.Met17Ile) | dbSNP |
| Y | g.6872558C= | CA2469903470 | AMELY | c.51G= (p.Met17=) | |
| Y | g.6872558C>G | CA414969576 | AMELY | c.51G>C (p.Met17Ile) | |
| Y | g.6872558C>T | CA414969579 | AMELY | c.51G>A (p.Met17Ile) | |
| Y | g.6872559A>C | CA414969587 | AMELY | c.50T>G (p.Met17Arg) | |
| Y | g.6872559A>G | CA414969582 | AMELY | c.50T>C (p.Met17Thr) | |
| Y | g.6872559A>T | CA414969585 | AMELY | c.50T>A (p.Met17Lys) | |
| Y | g.6872560T>A | CA414969590 | AMELY | c.49A>T (p.Met17Leu) | |
| Y | g.6872560T>C | CA414969591 | AMELY | c.49A>G (p.Met17Val) | |
| Y | g.6872560T>G | CA414969593 | AMELY | c.49A>C (p.Met17Leu) | |
| Y | g.6872561G>A | CA519498444 | AMELY | c.48C>T (p.Ala16=) | |
| Y | g.6872561G>C | CA519498446 | AMELY | c.48C>G (p.Ala16=) | |
| Y | g.6872561G>T | CA519498448 | AMELY | c.48C>A (p.Ala16=) | |
| Y | g.6872562G>A | CA414969596 | AMELY | c.47C>T (p.Ala16Val) | |
| Y | g.6872562G>C | CA414969598 | AMELY | c.47C>G (p.Ala16Gly) | |
| Y | g.6872562G>T | CA414969601 | AMELY | c.47C>A (p.Ala16Asp) | |
| 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) | |
| 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) | |
| Y | g.6872587C>T | CA414969727 | AMELY | c.22G>A (p.Ala8Thr) | |
| Y | g.6872588A>C | CA414969730 | AMELY | c.21T>G (p.Phe7Leu) | |
| Y | g.6872588A>G | CA519498526 | AMELY | c.21T>C (p.Phe7=) | |
| Y | g.6872588A>T | CA414969731 | AMELY | c.21T>A (p.Phe7Leu) | |
| Y | g.6872590_6872595del | CA2766273060 | AMELY | c.16_21del (p.Leu6_Phe7del) | |
| Y | g.6872589A>C | CA414969736 | AMELY | c.20T>G (p.Phe7Cys) | |
| Y | g.6872589A>G | CA414969733 | AMELY | c.20T>C (p.Phe7Ser) | |
| Y | g.6872589A>T | CA414969735 | AMELY | c.20T>A (p.Phe7Tyr) | |
| Y | g.6872590A>C | CA414969737 | AMELY | c.19T>G (p.Phe7Val) | |
| Y | g.6872590A>G | CA414969738 | AMELY | c.19T>C (p.Phe7Leu) | |
| Y | g.6872590A>T | CA414969739 | AMELY | c.19T>A (p.Phe7Ile) | |
| Y | g.6872591C>A | CA414969741 | AMELY | c.18G>T (p.Leu6Phe) | |
| Y | g.6872591C>G | CA414969744 | AMELY | c.18G>C (p.Leu6Phe) | |
| Y | g.6872591C>T | CA519498537 | AMELY | c.18G>A (p.Leu6=) | |
| Y | g.6872591_6872592delinsCA | CA2469903475 | AMELY | c.17_18delinsTG (p.Leu6=) | |
| Y | g.6872592A>C | CA414969747 | AMELY | c.17T>G (p.Leu6Trp) | |
| Y | g.6872592A>G | CA414969750 | AMELY | c.17T>C (p.Leu6Ser) | |
| Y | g.6872592A>T | CA414969753 | AMELY | c.17T>A (p.Leu6Ter) | |
| Y | g.6872595del | CA1138822826 | AMELY | c.17del (p.Leu6CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6872593A>C | CA414969756 | AMELY | c.16T>G (p.Leu6Val) | |
| Y | g.6872593A>G | CA519498542 | AMELY | c.16T>C (p.Leu6=) | |
| Y | g.6872593A>T | CA414969759 | AMELY | c.16T>A (p.Leu6Met) | |
| Y | g.6872594A= | CA2469903476 | AMELY | c.15T= (p.Ile5=) | |
| Y | g.6872594A>C | CA414969763 | AMELY | c.15T>G (p.Ile5Met) | |
| Y | g.6872594A>G | CA519498546 | AMELY | c.15T>C (p.Ile5=) | |
| Y | g.6872594A>T | CA519498548 | AMELY | c.15T>A (p.Ile5=) | dbSNP |
| Y | g.6872595A>C | CA414969769 | AMELY | c.14T>G (p.Ile5Ser) | |
| Y | g.6872595A>G | CA414969766 | AMELY | c.14T>C (p.Ile5Thr) | |
| Y | g.6872595A>T | CA414969773 | AMELY | c.14T>A (p.Ile5Asn) | |
| Y | g.6872596T>A | CA414969777 | AMELY | c.13A>T (p.Ile5Phe) | |
| Y | g.6872596T>C | CA414969781 | AMELY | c.13A>G (p.Ile5Val) | |
| Y | g.6872596T>G | CA414969783 | AMELY | c.13A>C (p.Ile5Leu) | |
| Y | g.6872597C>A | CA414969787 | AMELY | c.12G>T (p.Trp4Cys) | |
| Y | g.6872597C>G | CA414969789 | AMELY | c.12G>C (p.Trp4Cys) | |
| Y | g.6872597C>T | CA414969793 | AMELY | c.12G>A (p.Trp4Ter) | |
| Y | g.6872598C>A | CA414969796 | AMELY | c.11G>T (p.Trp4Leu) | |
| Y | g.6872598C>G | CA414969799 | AMELY | c.11G>C (p.Trp4Ser) | |
| Y | g.6872598C>T | CA414969801 | AMELY | c.11G>A (p.Trp4Ter) | |
| Y | g.6872599A>C | CA414969803 | AMELY | c.10T>G (p.Trp4Gly) | |
| Y | g.6872599A>G | CA414969804 | AMELY | c.10T>C (p.Trp4Arg) | |
| Y | g.6872599A>T | CA414969807 | AMELY | c.10T>A (p.Trp4Arg) | |
| Y | g.6872600G>A | CA519498563 | AMELY | c.9C>T (p.Thr3=) | |
| Y | g.6872600G>C | CA519498565 | AMELY | c.9C>G (p.Thr3=) | |
| Y | g.6872600G>T | CA519498566 | AMELY | c.9C>A (p.Thr3=) | |
| Y | g.6872601G>A | CA414969819 | AMELY | c.8C>T (p.Thr3Ile) | |
| Y | g.6872601G>C | CA414969824 | AMELY | c.8C>G (p.Thr3Ser) | |
| Y | g.6872601G>T | CA414969821 | AMELY | c.8C>A (p.Thr3Asn) | |
| Y | g.6872602T>A | CA414969826 | AMELY | c.7A>T (p.Thr3Ser) | |
| Y | g.6872602T>C | CA414969829 | AMELY | c.7A>G (p.Thr3Ala) | |
| Y | g.6872602T>G | CA414969831 | AMELY | c.7A>C (p.Thr3Pro) | |
| Y | g.6872603C>A | CA519498574 | AMELY | c.6G>T (p.Gly2=) | |
| Y | g.6872603C>G | CA519498576 | AMELY | c.6G>C (p.Gly2=) | |
| Y | g.6872603C>T | CA519498575 | AMELY | c.6G>A (p.Gly2=) | |
| Y | g.6872604C>A | CA414969833 | AMELY | c.5G>T (p.Gly2Val) | |
| Y | g.6872604C>G | CA414969835 | AMELY | c.5G>C (p.Gly2Ala) | |
| Y | g.6872604C>T | CA414969838 | AMELY | c.5G>A (p.Gly2Glu) | |
| Y | g.6872605C>A | CA414969843 | AMELY | c.4G>T (p.Gly2Trp) | |
| Y | g.6872605C>G | CA414969845 | AMELY | c.4G>C (p.Gly2Arg) | |
| Y | g.6872605C>T | CA414969848 | AMELY | c.4G>A (p.Gly2Arg) |