Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141631G>A | CA8053426 | SALL1 | c.591C>T (p.Ile197=) c.300C>T (p.Ile100=) c.77-4079C>T (n.77-4079C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141631G>C | CA395891436 | SALL1 | c.591C>G (p.Ile197Met) c.300C>G (p.Ile100Met) c.77-4079C>G (n.77-4079C>G) | |
16 | g.51141631G= | CA2222022558 | SALL1 | c.591C= (p.Ile197=) c.300C= (p.Ile100=) c.77-4079C= (n.77-4079C=) | |
16 | g.51141631G>T | CA495781411 | SALL1 | c.591C>A (p.Ile197=) c.300C>A (p.Ile100=) c.77-4079C>A (n.77-4079C>A) | |
16 | g.51141632A= | CA2222022561 | SALL1 | c.590T= (p.Ile197=) c.299T= (p.Ile100=) c.77-4080T= (n.77-4080T=) | |
16 | g.51141632A>C | CA395891437 | SALL1 | c.590T>G (p.Ile197Ser) c.299T>G (p.Ile100Ser) c.77-4080T>G (n.77-4080T>G) | |
16 | g.51141632A>G | CA395891440 | SALL1 | c.590T>C (p.Ile197Thr) c.299T>C (p.Ile100Thr) c.77-4080T>C (n.77-4080T>C) | dbSNP gnomAD v2 |
16 | g.51141632A>T | CA395891438 | SALL1 | c.590T>A (p.Ile197Asn) c.299T>A (p.Ile100Asn) c.77-4080T>A (n.77-4080T>A) | |
16 | g.51141633T>A | CA395891442 | SALL1 | c.589A>T (p.Ile197Phe) c.298A>T (p.Ile100Phe) c.77-4081A>T (n.77-4081A>T) | gnomAD v4 |
16 | g.51141633T>C | CA281302994 | SALL1 | c.589A>G (p.Ile197Val) c.298A>G (p.Ile100Val) c.77-4081A>G (n.77-4081A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141633T>G | CA395891444 | SALL1 | c.589A>C (p.Ile197Leu) c.298A>C (p.Ile100Leu) c.77-4081A>C (n.77-4081A>C) | gnomAD v4 |
16 | g.51141633T= | CA2222022567 | SALL1 | c.589A= (p.Ile197=) c.298A= (p.Ile100=) c.77-4081A= (n.77-4081A=) | |
16 | g.51141634G>A | CA495781412 | SALL1 | c.588C>T (p.Ile196=) c.297C>T (p.Ile99=) c.77-4082C>T (n.77-4082C>T) | |
16 | g.51141634G>C | CA395891445 | SALL1 | c.588C>G (p.Ile196Met) c.297C>G (p.Ile99Met) c.77-4082C>G (n.77-4082C>G) | |
16 | g.51141634G>T | CA495781413 | SALL1 | c.588C>A (p.Ile196=) c.297C>A (p.Ile99=) c.77-4082C>A (n.77-4082C>A) | |
16 | g.51141635A>C | CA395891446 | SALL1 | c.587T>G (p.Ile196Ser) c.296T>G (p.Ile99Ser) c.77-4083T>G (n.77-4083T>G) | |
16 | g.51141635A>G | CA395891450 | SALL1 | c.587T>C (p.Ile196Thr) c.296T>C (p.Ile99Thr) c.77-4083T>C (n.77-4083T>C) | |
16 | g.51141635A>T | CA395891448 | SALL1 | c.587T>A (p.Ile196Asn) c.296T>A (p.Ile99Asn) c.77-4083T>A (n.77-4083T>A) | |
16 | g.51141636T>A | CA395891452 | SALL1 | c.586A>T (p.Ile196Phe) c.295A>T (p.Ile99Phe) c.77-4084A>T (n.77-4084A>T) | |
16 | g.51141636T>C | CA395891453 | SALL1 | c.586A>G (p.Ile196Val) c.295A>G (p.Ile99Val) c.77-4084A>G (n.77-4084A>G) | gnomAD v4 |
16 | g.51141636T>G | CA395891455 | SALL1 | c.586A>C (p.Ile196Leu) c.295A>C (p.Ile99Leu) c.77-4084A>C (n.77-4084A>C) | |
16 | g.51141637G>A | CA495781414 | SALL1 | c.585C>T (p.Val195=) c.294C>T (p.Val98=) c.77-4085C>T (n.77-4085C>T) | |
16 | g.51141637G>C | CA495781415 | SALL1 | c.585C>G (p.Val195=) c.294C>G (p.Val98=) c.77-4085C>G (n.77-4085C>G) | |
16 | g.51141637G>T | CA495781416 | SALL1 | c.585C>A (p.Val195=) c.294C>A (p.Val98=) c.77-4085C>A (n.77-4085C>A) | |
16 | g.51141638A>C | CA395891457 | SALL1 | c.584T>G (p.Val195Gly) c.293T>G (p.Val98Gly) c.77-4086T>G (n.77-4086T>G) | |
16 | g.51141638A>G | CA395891458 | SALL1 | c.584T>C (p.Val195Ala) c.293T>C (p.Val98Ala) c.77-4086T>C (n.77-4086T>C) | |
16 | g.51141638A>T | CA395891460 | SALL1 | c.584T>A (p.Val195Asp) c.293T>A (p.Val98Asp) c.77-4086T>A (n.77-4086T>A) | |
16 | g.51141639C>A | CA395891461 | SALL1 | c.583G>T (p.Val195Phe) c.292G>T (p.Val98Phe) c.77-4087G>T (n.77-4087G>T) | |
16 | g.51141639C= | CA2222022572 | SALL1 | c.583G= (p.Val195=) c.292G= (p.Val98=) c.77-4087G= (n.77-4087G=) | |
16 | g.51141639C>G | CA395891463 | SALL1 | c.583G>C (p.Val195Leu) c.292G>C (p.Val98Leu) c.77-4087G>C (n.77-4087G>C) | |
16 | g.51141639C>T | CA8053427 | SALL1 | c.583G>A (p.Val195Ile) c.292G>A (p.Val98Ile) c.77-4087G>A (n.77-4087G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141640G>A | CA495781417 | SALL1 | c.582C>T (p.Asn194=) c.291C>T (p.Asn97=) c.77-4088C>T (n.77-4088C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141640G>C | CA395891465 | SALL1 | c.582C>G (p.Asn194Lys) c.291C>G (p.Asn97Lys) c.77-4088C>G (n.77-4088C>G) | |
16 | g.51141640G= | CA2222022576 | SALL1 | c.582C= (p.Asn194=) c.291C= (p.Asn97=) c.77-4088C= (n.77-4088C=) | |
16 | g.51141640G>T | CA395891467 | SALL1 | c.582C>A (p.Asn194Lys) c.291C>A (p.Asn97Lys) c.77-4088C>A (n.77-4088C>A) | gnomAD v4 |
16 | g.51141641T>A | CA395891468 | SALL1 | c.581A>T (p.Asn194Ile) c.290A>T (p.Asn97Ile) c.77-4089A>T (n.77-4089A>T) | |
16 | g.51141641T>C | CA395891471 | SALL1 | c.581A>G (p.Asn194Ser) c.290A>G (p.Asn97Ser) c.77-4089A>G (n.77-4089A>G) | dbSNP |
16 | g.51141641T>G | CA395891470 | SALL1 | c.581A>C (p.Asn194Thr) c.290A>C (p.Asn97Thr) c.77-4089A>C (n.77-4089A>C) | |
16 | g.51141641T= | CA2222022578 | SALL1 | c.581A= (p.Asn194=) c.290A= (p.Asn97=) c.77-4089A= (n.77-4089A=) | |
16 | g.51141642T>A | CA395891473 | SALL1 | c.580A>T (p.Asn194Tyr) c.289A>T (p.Asn97Tyr) c.77-4090A>T (n.77-4090A>T) | |
16 | g.51141642T>C | CA395891475 | SALL1 | c.580A>G (p.Asn194Asp) c.289A>G (p.Asn97Asp) c.77-4090A>G (n.77-4090A>G) | gnomAD v4 |
16 | g.51141642T>G | CA395891476 | SALL1 | c.580A>C (p.Asn194His) c.289A>C (p.Asn97His) c.77-4090A>C (n.77-4090A>C) | |
16 | g.51141643G>A | CA495781418 | SALL1 | c.579C>T (p.Ser193=) c.288C>T (p.Ser96=) c.77-4091C>T (n.77-4091C>T) | |
16 | g.51141643G>C | CA395891478 | SALL1 | c.579C>G (p.Ser193Arg) c.288C>G (p.Ser96Arg) c.77-4091C>G (n.77-4091C>G) | |
16 | g.51141643G>T | CA395891479 | SALL1 | c.579C>A (p.Ser193Arg) c.288C>A (p.Ser96Arg) c.77-4091C>A (n.77-4091C>A) | |
16 | g.51141644C>A | CA395891480 | SALL1 | c.578G>T (p.Ser193Ile) c.287G>T (p.Ser96Ile) c.77-4092G>T (n.77-4092G>T) | |
16 | g.51141644C= | CA2222022580 | SALL1 | c.578G= (p.Ser193=) c.287G= (p.Ser96=) c.77-4092G= (n.77-4092G=) | |
16 | g.51141644C>G | CA395891481 | SALL1 | c.578G>C (p.Ser193Thr) c.287G>C (p.Ser96Thr) c.77-4092G>C (n.77-4092G>C) | |
16 | g.51141644C>T | CA8053428 | SALL1 | c.578G>A (p.Ser193Asn) c.287G>A (p.Ser96Asn) c.77-4092G>A (n.77-4092G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141645T>A | CA395891484 | SALL1 | c.577A>T (p.Ser193Cys) c.286A>T (p.Ser96Cys) c.77-4093A>T (n.77-4093A>T) | COSMIC |
16 | g.51141645T>C | CA395891486 | SALL1 | c.577A>G (p.Ser193Gly) c.286A>G (p.Ser96Gly) c.77-4093A>G (n.77-4093A>G) | |
16 | g.51141645T>G | CA395891487 | SALL1 | c.577A>C (p.Ser193Arg) c.286A>C (p.Ser96Arg) c.77-4093A>C (n.77-4093A>C) | |
16 | g.51141646G>A | CA495781419 | SALL1 | c.576C>T (p.Asn192=) c.285C>T (p.Asn95=) c.77-4094C>T (n.77-4094C>T) | dbSNP |
16 | g.51141646G>C | CA395891488 | SALL1 | c.576C>G (p.Asn192Lys) c.285C>G (p.Asn95Lys) c.77-4094C>G (n.77-4094C>G) | COSMIC |
16 | g.51141646G= | CA2222022585 | SALL1 | c.576C= (p.Asn192=) c.285C= (p.Asn95=) c.77-4094C= (n.77-4094C=) | |
16 | g.51141646G>T | CA395891489 | SALL1 | c.576C>A (p.Asn192Lys) c.285C>A (p.Asn95Lys) c.77-4094C>A (n.77-4094C>A) | |
16 | g.51141647T>A | CA395891492 | SALL1 | c.575A>T (p.Asn192Ile) c.284A>T (p.Asn95Ile) c.77-4095A>T (n.77-4095A>T) | |
16 | g.51141647T>C | CA395891495 | SALL1 | c.575A>G (p.Asn192Ser) c.284A>G (p.Asn95Ser) c.77-4095A>G (n.77-4095A>G) | |
16 | g.51141647T>G | CA395891494 | SALL1 | c.575A>C (p.Asn192Thr) c.284A>C (p.Asn95Thr) c.77-4095A>C (n.77-4095A>C) | |
16 | g.51141648T>A | CA395891497 | SALL1 | c.574A>T (p.Asn192Tyr) c.283A>T (p.Asn95Tyr) c.77-4096A>T (n.77-4096A>T) | |
16 | g.51141648T>C | CA395891498 | SALL1 | c.574A>G (p.Asn192Asp) c.283A>G (p.Asn95Asp) c.77-4096A>G (n.77-4096A>G) | gnomAD v4 |
16 | g.51141648T>G | CA395891500 | SALL1 | c.574A>C (p.Asn192His) c.283A>C (p.Asn95His) c.77-4096A>C (n.77-4096A>C) | |
16 | g.51141649G>A | CA495781420 | SALL1 | c.573C>T (p.Ile191=) c.282C>T (p.Ile94=) c.77-4097C>T (n.77-4097C>T) | |
16 | g.51141649G>C | CA395891501 | SALL1 | c.573C>G (p.Ile191Met) c.282C>G (p.Ile94Met) c.77-4097C>G (n.77-4097C>G) | |
16 | g.51141649G>T | CA495781421 | SALL1 | c.573C>A (p.Ile191=) c.282C>A (p.Ile94=) c.77-4097C>A (n.77-4097C>A) | COSMIC |
16 | g.51141650A= | CA2222022590 | SALL1 | c.572T= (p.Ile191=) c.281T= (p.Ile94=) c.77-4098T= (n.77-4098T=) | |
16 | g.51141650A>C | CA395891503 | SALL1 | c.572T>G (p.Ile191Ser) c.281T>G (p.Ile94Ser) c.77-4098T>G (n.77-4098T>G) | |
16 | g.51141650A>G | CA395891504 | SALL1 | c.572T>C (p.Ile191Thr) c.281T>C (p.Ile94Thr) c.77-4098T>C (n.77-4098T>C) | ClinVar dbSNP gnomAD v4 |
16 | g.51141650A>T | CA395891505 | SALL1 | c.572T>A (p.Ile191Asn) c.281T>A (p.Ile94Asn) c.77-4098T>A (n.77-4098T>A) | |
16 | g.51141651T>A | CA395891507 | SALL1 | c.571A>T (p.Ile191Phe) c.280A>T (p.Ile94Phe) c.77-4099A>T (n.77-4099A>T) | |
16 | g.51141651T>C | CA395891509 | SALL1 | c.571A>G (p.Ile191Val) c.280A>G (p.Ile94Val) c.77-4099A>G (n.77-4099A>G) | |
16 | g.51141651T>G | CA395891510 | SALL1 | c.571A>C (p.Ile191Leu) c.280A>C (p.Ile94Leu) c.77-4099A>C (n.77-4099A>C) | |
16 | g.51141652T>A | CA495781422 | SALL1 | c.570A>T (p.Val190=) c.279A>T (p.Val93=) c.77-4100A>T (n.77-4100A>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141652T>C | CA495781423 | SALL1 | c.570A>G (p.Val190=) c.279A>G (p.Val93=) c.77-4100A>G (n.77-4100A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141652T>G | CA495781424 | SALL1 | c.570A>C (p.Val190=) c.279A>C (p.Val93=) c.77-4100A>C (n.77-4100A>C) | |
16 | g.51141652T= | CA2222022602 | SALL1 | c.570A= (p.Val190=) c.279A= (p.Val93=) c.77-4100A= (n.77-4100A=) | |
16 | g.51141653A>C | CA395891512 | SALL1 | c.569T>G (p.Val190Gly) c.278T>G (p.Val93Gly) c.77-4101T>G (n.77-4101T>G) | |
16 | g.51141653A>G | CA395891514 | SALL1 | c.569T>C (p.Val190Ala) c.278T>C (p.Val93Ala) c.77-4101T>C (n.77-4101T>C) | gnomAD v4 |
16 | g.51141653A>T | CA395891511 | SALL1 | c.569T>A (p.Val190Glu) c.278T>A (p.Val93Glu) c.77-4101T>A (n.77-4101T>A) | |
16 | g.51141654C>A | CA395891516 | SALL1 | c.568G>T (p.Val190Leu) c.277G>T (p.Val93Leu) c.77-4102G>T (n.77-4102G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141654C= | CA2222022605 | SALL1 | c.568G= (p.Val190=) c.277G= (p.Val93=) c.77-4102G= (n.77-4102G=) | |
16 | g.51141654C>G | CA395891517 | SALL1 | c.568G>C (p.Val190Leu) c.277G>C (p.Val93Leu) c.77-4102G>C (n.77-4102G>C) | |
16 | g.51141654C>T | CA8053429 | SALL1 | c.568G>A (p.Val190Ile) c.277G>A (p.Val93Ile) c.77-4102G>A (n.77-4102G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141655G>A | CA8053430 | SALL1 | c.567C>T (p.Ser189=) c.276C>T (p.Ser92=) c.77-4103C>T (n.77-4103C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141655G>C | CA8053431 | SALL1 | c.567C>G (p.Ser189=) c.276C>G (p.Ser92=) c.77-4103C>G (n.77-4103C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141655G= | CA2222022611 | SALL1 | c.567C= (p.Ser189=) c.276C= (p.Ser92=) c.77-4103C= (n.77-4103C=) | |
16 | g.51141655G>T | CA495781425 | SALL1 | c.567C>A (p.Ser189=) c.276C>A (p.Ser92=) c.77-4103C>A (n.77-4103C>A) | |
16 | g.51141656G>A | CA395891521 | SALL1 | c.566C>T (p.Ser189Phe) c.275C>T (p.Ser92Phe) c.77-4104C>T (n.77-4104C>T) | |
16 | g.51141656G>C | CA395891522 | SALL1 | c.566C>G (p.Ser189Cys) c.275C>G (p.Ser92Cys) c.77-4104C>G (n.77-4104C>G) | |
16 | g.51141656G>T | CA395891524 | SALL1 | c.566C>A (p.Ser189Tyr) c.275C>A (p.Ser92Tyr) c.77-4104C>A (n.77-4104C>A) | |
16 | g.51141658_51141659dup | CA2580613476 | SALL1 | c.565_566dup (p.Val190ProfsTer2) c.274_275dup (p.Val93ProfsTer2) c.77-4105_77-4104dup (n.77-4105_77-4104dup) | ClinVar dbSNP |
16 | g.51141657A>C | CA395891526 | SALL1 | c.565T>G (p.Ser189Ala) c.274T>G (p.Ser92Ala) c.77-4105T>G (n.77-4105T>G) | |
16 | g.51141657A>G | CA395891527 | SALL1 | c.565T>C (p.Ser189Pro) c.274T>C (p.Ser92Pro) c.77-4105T>C (n.77-4105T>C) | |
16 | g.51141657A>T | CA395891528 | SALL1 | c.565T>A (p.Ser189Thr) c.274T>A (p.Ser92Thr) c.77-4105T>A (n.77-4105T>A) | |
16 | g.51141658G>A | CA495781426 | SALL1 | c.564C>T (p.Phe188=) c.273C>T (p.Phe91=) c.77-4106C>T (n.77-4106C>T) | |
16 | g.51141658G>C | CA395891530 | SALL1 | c.564C>G (p.Phe188Leu) c.273C>G (p.Phe91Leu) c.77-4106C>G (n.77-4106C>G) | |
16 | g.51141658G= | CA2222022623 | SALL1 | c.564C= (p.Phe188=) c.273C= (p.Phe91=) c.77-4106C= (n.77-4106C=) | |
16 | g.51141658G>T | CA281303007 | SALL1 | c.564C>A (p.Phe188Leu) c.273C>A (p.Phe91Leu) c.77-4106C>A (n.77-4106C>A) | dbSNP gnomAD v4 |
16 | g.51141659A>C | CA395891536 | SALL1 | c.563T>G (p.Phe188Cys) c.272T>G (p.Phe91Cys) c.77-4107T>G (n.77-4107T>G) | |
16 | g.51141659A>G | CA395891534 | SALL1 | c.563T>C (p.Phe188Ser) c.272T>C (p.Phe91Ser) c.77-4107T>C (n.77-4107T>C) | |
16 | g.51141659A>T | CA395891533 | SALL1 | c.563T>A (p.Phe188Tyr) c.272T>A (p.Phe91Tyr) c.77-4107T>A (n.77-4107T>A) | |
16 | g.51141660A>C | CA395891537 | SALL1 | c.562T>G (p.Phe188Val) c.271T>G (p.Phe91Val) c.77-4108T>G (n.77-4108T>G) | gnomAD v4 |
16 | g.51141660A>G | CA395891538 | SALL1 | c.562T>C (p.Phe188Leu) c.271T>C (p.Phe91Leu) c.77-4108T>C (n.77-4108T>C) | |
16 | g.51141660A>T | CA395891539 | SALL1 | c.562T>A (p.Phe188Ile) c.271T>A (p.Phe91Ile) c.77-4108T>A (n.77-4108T>A) | |
16 | g.51141661G>A | CA495781427 | SALL1 | c.561C>T (p.Asn187=) c.270C>T (p.Asn90=) c.77-4109C>T (n.77-4109C>T) | |
16 | g.51141661G>C | CA395891541 | SALL1 | c.561C>G (p.Asn187Lys) c.270C>G (p.Asn90Lys) c.77-4109C>G (n.77-4109C>G) | |
16 | g.51141661G>T | CA395891542 | SALL1 | c.561C>A (p.Asn187Lys) c.270C>A (p.Asn90Lys) c.77-4109C>A (n.77-4109C>A) | |
16 | g.51141662T>A | CA395891545 | SALL1 | c.560A>T (p.Asn187Ile) c.269A>T (p.Asn90Ile) c.77-4110A>T (n.77-4110A>T) | gnomAD v4 |
16 | g.51141662T>C | CA8053433 | SALL1 | c.560A>G (p.Asn187Ser) c.269A>G (p.Asn90Ser) c.77-4110A>G (n.77-4110A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141662T>G | CA8053432 | SALL1 | c.560A>C (p.Asn187Thr) c.269A>C (p.Asn90Thr) c.77-4110A>C (n.77-4110A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141662T= | CA2222022630 | SALL1 | c.560A= (p.Asn187=) c.269A= (p.Asn90=) c.77-4110A= (n.77-4110A=) | |
16 | g.51141663T>A | CA395891547 | SALL1 | c.559A>T (p.Asn187Tyr) c.268A>T (p.Asn90Tyr) c.77-4111A>T (n.77-4111A>T) | |
16 | g.51141663T>C | CA8053434 | SALL1 | c.559A>G (p.Asn187Asp) c.268A>G (p.Asn90Asp) c.77-4111A>G (n.77-4111A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141663T>G | CA395891550 | SALL1 | c.559A>C (p.Asn187His) c.268A>C (p.Asn90His) c.77-4111A>C (n.77-4111A>C) | |
16 | g.51141663T= | CA2222022635 | SALL1 | c.559A= (p.Asn187=) c.268A= (p.Asn90=) c.77-4111A= (n.77-4111A=) | |
16 | g.51141664G>A | CA495781428 | SALL1 | c.558C>T (p.Gly186=) c.267C>T (p.Gly89=) c.77-4112C>T (n.77-4112C>T) | gnomAD v4 |
16 | g.51141664G>C | CA495781429 | SALL1 | c.558C>G (p.Gly186=) c.267C>G (p.Gly89=) c.77-4112C>G (n.77-4112C>G) | |
16 | g.51141664G>T | CA495781430 | SALL1 | c.558C>A (p.Gly186=) c.267C>A (p.Gly89=) c.77-4112C>A (n.77-4112C>A) | |
16 | g.51141665C>A | CA395891551 | SALL1 | c.557G>T (p.Gly186Val) c.266G>T (p.Gly89Val) c.77-4113G>T (n.77-4113G>T) | |
16 | g.51141665C>G | CA395891553 | SALL1 | c.557G>C (p.Gly186Ala) c.266G>C (p.Gly89Ala) c.77-4113G>C (n.77-4113G>C) | |
16 | g.51141665C>T | CA395891554 | SALL1 | c.557G>A (p.Gly186Asp) c.266G>A (p.Gly89Asp) c.77-4113G>A (n.77-4113G>A) | gnomAD v4 |
16 | g.51141666C>A | CA395891558 | SALL1 | c.556G>T (p.Gly186Cys) c.265G>T (p.Gly89Cys) c.77-4114G>T (n.77-4114G>T) | |
16 | g.51141666C>G | CA395891559 | SALL1 | c.556G>C (p.Gly186Arg) c.265G>C (p.Gly89Arg) c.77-4114G>C (n.77-4114G>C) | |
16 | g.51141666C>T | CA395891556 | SALL1 | c.556G>A (p.Gly186Ser) c.265G>A (p.Gly89Ser) c.77-4114G>A (n.77-4114G>A) | |
16 | g.51141667C>A | CA495781431 | SALL1 | c.555G>T (p.Leu185=) c.264G>T (p.Leu88=) c.77-4115G>T (n.77-4115G>T) | dbSNP gnomAD v2 |
16 | g.51141667C= | CA2222022642 | SALL1 | c.555G= (p.Leu185=) c.264G= (p.Leu88=) c.77-4115G= (n.77-4115G=) | |
16 | g.51141667C>G | CA495781433 | SALL1 | c.555G>C (p.Leu185=) c.264G>C (p.Leu88=) c.77-4115G>C (n.77-4115G>C) | |
16 | g.51141667C>T | CA495781432 | SALL1 | c.555G>A (p.Leu185=) c.264G>A (p.Leu88=) c.77-4115G>A (n.77-4115G>A) | dbSNP |
16 | g.51141668A>C | CA395891561 | SALL1 | c.554T>G (p.Leu185Arg) c.263T>G (p.Leu88Arg) c.77-4116T>G (n.77-4116T>G) | |
16 | g.51141668A>G | CA395891563 | SALL1 | c.554T>C (p.Leu185Pro) c.263T>C (p.Leu88Pro) c.77-4116T>C (n.77-4116T>C) | COSMIC |
16 | g.51141668A>T | CA395891564 | SALL1 | c.554T>A (p.Leu185Gln) c.263T>A (p.Leu88Gln) c.77-4116T>A (n.77-4116T>A) | gnomAD v4 |
16 | g.51141669G>A | CA495781434 | SALL1 | c.553C>T (p.Leu185=) c.262C>T (p.Leu88=) c.77-4117C>T (n.77-4117C>T) | |
16 | g.51141669G>C | CA395891565 | SALL1 | c.553C>G (p.Leu185Val) c.262C>G (p.Leu88Val) c.77-4117C>G (n.77-4117C>G) | |
16 | g.51141669G>T | CA395891566 | SALL1 | c.553C>A (p.Leu185Met) c.262C>A (p.Leu88Met) c.77-4117C>A (n.77-4117C>A) | |
16 | g.51141670T>A | CA495781435 | SALL1 | c.552A>T (p.Thr184=) c.261A>T (p.Thr87=) c.77-4118A>T (n.77-4118A>T) | |
16 | g.51141670T>C | CA495781436 | SALL1 | c.552A>G (p.Thr184=) c.261A>G (p.Thr87=) c.77-4118A>G (n.77-4118A>G) | |
16 | g.51141670T>G | CA495781437 | SALL1 | c.552A>C (p.Thr184=) c.261A>C (p.Thr87=) c.77-4118A>C (n.77-4118A>C) | |
16 | g.51141671G>A | CA395891567 | SALL1 | c.551C>T (p.Thr184Ile) c.260C>T (p.Thr87Ile) c.77-4119C>T (n.77-4119C>T) | |
16 | g.51141671G>C | CA395891569 | SALL1 | c.551C>G (p.Thr184Arg) c.260C>G (p.Thr87Arg) c.77-4119C>G (n.77-4119C>G) | |
16 | g.51141671G>T | CA395891571 | SALL1 | c.551C>A (p.Thr184Lys) c.260C>A (p.Thr87Lys) c.77-4119C>A (n.77-4119C>A) | |
16 | g.51141672T>A | CA395891573 | SALL1 | c.550A>T (p.Thr184Ser) c.259A>T (p.Thr87Ser) c.77-4120A>T (n.77-4120A>T) | |
16 | g.51141672T>C | CA8053435 | SALL1 | c.550A>G (p.Thr184Ala) c.259A>G (p.Thr87Ala) c.77-4120A>G (n.77-4120A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141672T>G | CA395891574 | SALL1 | c.550A>C (p.Thr184Pro) c.259A>C (p.Thr87Pro) c.77-4120A>C (n.77-4120A>C) | |
16 | g.51141672T= | CA2222022647 | SALL1 | c.550A= (p.Thr184=) c.259A= (p.Thr87=) c.77-4120A= (n.77-4120A=) | |
16 | g.51141673T>A | CA495781438 | SALL1 | c.549A>T (p.Thr183=) c.258A>T (p.Thr86=) c.77-4121A>T (n.77-4121A>T) | |
16 | g.51141673T>C | CA8053436 | SALL1 | c.549A>G (p.Thr183=) c.258A>G (p.Thr86=) c.77-4121A>G (n.77-4121A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141673T>G | CA495781439 | SALL1 | c.549A>C (p.Thr183=) c.258A>C (p.Thr86=) c.77-4121A>C (n.77-4121A>C) | |
16 | g.51141673T= | CA2222022653 | SALL1 | c.549A= (p.Thr183=) c.258A= (p.Thr86=) c.77-4121A= (n.77-4121A=) | |
16 | g.51141674G>A | CA395891580 | SALL1 | c.548C>T (p.Thr183Ile) c.257C>T (p.Thr86Ile) c.77-4122C>T (n.77-4122C>T) | dbSNP gnomAD v4 |
16 | g.51141674G>C | CA395891579 | SALL1 | c.548C>G (p.Thr183Arg) c.257C>G (p.Thr86Arg) c.77-4122C>G (n.77-4122C>G) | |
16 | g.51141674G= | CA2222022662 | SALL1 | c.548C= (p.Thr183=) c.257C= (p.Thr86=) c.77-4122C= (n.77-4122C=) | |
16 | g.51141674G>T | CA395891578 | SALL1 | c.548C>A (p.Thr183Lys) c.257C>A (p.Thr86Lys) c.77-4122C>A (n.77-4122C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141675T>A | CA395891582 | SALL1 | c.547A>T (p.Thr183Ser) c.256A>T (p.Thr86Ser) c.77-4123A>T (n.77-4123A>T) | |
16 | g.51141675T>C | CA395891584 | SALL1 | c.547A>G (p.Thr183Ala) c.256A>G (p.Thr86Ala) c.77-4123A>G (n.77-4123A>G) | gnomAD v4 |
16 | g.51141675T>G | CA395891585 | SALL1 | c.547A>C (p.Thr183Pro) c.256A>C (p.Thr86Pro) c.77-4123A>C (n.77-4123A>C) | |
16 | g.51141676C>A | CA495781440 | SALL1 | c.546G>T (p.Leu182=) c.255G>T (p.Leu85=) c.77-4124G>T (n.77-4124G>T) | |
16 | g.51141676C= | CA2222022669 | SALL1 | c.546G= (p.Leu182=) c.255G= (p.Leu85=) c.77-4124G= (n.77-4124G=) | |
16 | g.51141676C>G | CA495781441 | SALL1 | c.546G>C (p.Leu182=) c.255G>C (p.Leu85=) c.77-4124G>C (n.77-4124G>C) | |
16 | g.51141676C>T | CA495781442 | SALL1 | c.546G>A (p.Leu182=) c.255G>A (p.Leu85=) c.77-4124G>A (n.77-4124G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141677A>C | CA395891587 | SALL1 | c.545T>G (p.Leu182Arg) c.254T>G (p.Leu85Arg) c.77-4125T>G (n.77-4125T>G) | |
16 | g.51141677A>G | CA395891589 | SALL1 | c.545T>C (p.Leu182Pro) c.254T>C (p.Leu85Pro) c.77-4125T>C (n.77-4125T>C) | gnomAD v4 |
16 | g.51141677A>T | CA395891590 | SALL1 | c.545T>A (p.Leu182Gln) c.254T>A (p.Leu85Gln) c.77-4125T>A (n.77-4125T>A) | |
16 | g.51141678G>A | CA495781443 | SALL1 | c.544C>T (p.Leu182=) c.253C>T (p.Leu85=) c.77-4126C>T (n.77-4126C>T) | |
16 | g.51141678G>C | CA395891592 | SALL1 | c.544C>G (p.Leu182Val) c.253C>G (p.Leu85Val) c.77-4126C>G (n.77-4126C>G) | |
16 | g.51141678G>T | CA395891593 | SALL1 | c.544C>A (p.Leu182Met) c.253C>A (p.Leu85Met) c.77-4126C>A (n.77-4126C>A) | |
16 | g.51141679G>A | CA495781444 | SALL1 | c.543C>T (p.Asp181=) c.252C>T (p.Asp84=) c.77-4127C>T (n.77-4127C>T) | gnomAD v4 |
16 | g.51141679G>C | CA395891595 | SALL1 | c.543C>G (p.Asp181Glu) c.252C>G (p.Asp84Glu) c.77-4127C>G (n.77-4127C>G) | |
16 | g.51141679G>T | CA395891596 | SALL1 | c.543C>A (p.Asp181Glu) c.252C>A (p.Asp84Glu) c.77-4127C>A (n.77-4127C>A) | |
16 | g.51141680T>A | CA395891598 | SALL1 | c.542A>T (p.Asp181Val) c.251A>T (p.Asp84Val) c.77-4128A>T (n.77-4128A>T) | |
16 | g.51141680T>C | CA395891600 | SALL1 | c.542A>G (p.Asp181Gly) c.251A>G (p.Asp84Gly) c.77-4128A>G (n.77-4128A>G) | dbSNP |
16 | g.51141680T>G | CA395891601 | SALL1 | c.542A>C (p.Asp181Ala) c.251A>C (p.Asp84Ala) c.77-4128A>C (n.77-4128A>C) | |
16 | g.51141681C>A | CA395891604 | SALL1 | c.541G>T (p.Asp181Tyr) c.250G>T (p.Asp84Tyr) c.77-4129G>T (n.77-4129G>T) | |
16 | g.51141681C= | CA2222022678 | SALL1 | c.541G= (p.Asp181=) c.250G= (p.Asp84=) c.77-4129G= (n.77-4129G=) | |
16 | g.51141681C>G | CA8053437 | SALL1 | c.541G>C (p.Asp181His) c.250G>C (p.Asp84His) c.77-4129G>C (n.77-4129G>C) | dbSNP ExAC gnomAD v2 |
16 | g.51141681C>T | CA281303019 | SALL1 | c.541G>A (p.Asp181Asn) c.250G>A (p.Asp84Asn) c.77-4129G>A (n.77-4129G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141682C>A | CA495781445 | SALL1 | c.540G>T (p.Gly180=) c.249G>T (p.Gly83=) c.77-4130G>T (n.77-4130G>T) | |
16 | g.51141682C= | CA2222022682 | SALL1 | c.540G= (p.Gly180=) c.249G= (p.Gly83=) c.77-4130G= (n.77-4130G=) | |
16 | g.51141682C>G | CA495781446 | SALL1 | c.540G>C (p.Gly180=) c.249G>C (p.Gly83=) c.77-4130G>C (n.77-4130G>C) | |
16 | g.51141682C>T | CA8053438 | SALL1 | c.540G>A (p.Gly180=) c.249G>A (p.Gly83=) c.77-4130G>A (n.77-4130G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141683C>A | CA395891606 | SALL1 | c.539G>T (p.Gly180Val) c.248G>T (p.Gly83Val) c.77-4131G>T (n.77-4131G>T) | |
16 | g.51141683C>G | CA395891608 | SALL1 | c.539G>C (p.Gly180Ala) c.248G>C (p.Gly83Ala) c.77-4131G>C (n.77-4131G>C) | |
16 | g.51141683C>T | CA395891610 | SALL1 | c.539G>A (p.Gly180Glu) c.248G>A (p.Gly83Glu) c.77-4131G>A (n.77-4131G>A) | |
16 | g.51141684C>A | CA395891611 | SALL1 | c.538G>T (p.Gly180Trp) c.247G>T (p.Gly83Trp) c.77-4132G>T (n.77-4132G>T) | |
16 | g.51141684C= | CA2222022685 | SALL1 | c.538G= (p.Gly180=) c.247G= (p.Gly83=) c.77-4132G= (n.77-4132G=) | |
16 | g.51141684C>G | CA395891613 | SALL1 | c.538G>C (p.Gly180Arg) c.247G>C (p.Gly83Arg) c.77-4132G>C (n.77-4132G>C) | |
16 | g.51141684C>T | CA8053439 | SALL1 | c.538G>A (p.Gly180Arg) c.247G>A (p.Gly83Arg) c.77-4132G>A (n.77-4132G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141685G>A | CA8053440 | SALL1 | c.537C>T (p.Leu179=) c.246C>T (p.Leu82=) c.77-4133C>T (n.77-4133C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141685G>C | CA495781447 | SALL1 | c.537C>G (p.Leu179=) c.246C>G (p.Leu82=) c.77-4133C>G (n.77-4133C>G) | |
16 | g.51141685G= | CA2222022690 | SALL1 | c.537C= (p.Leu179=) c.246C= (p.Leu82=) c.77-4133C= (n.77-4133C=) | |
16 | g.51141685G>T | CA495781448 | SALL1 | c.537C>A (p.Leu179=) c.246C>A (p.Leu82=) c.77-4133C>A (n.77-4133C>A) | gnomAD v4 |
16 | g.51141686A>C | CA395891618 | SALL1 | c.536T>G (p.Leu179Arg) c.245T>G (p.Leu82Arg) c.77-4134T>G (n.77-4134T>G) | |
16 | g.51141686A>G | CA395891616 | SALL1 | c.536T>C (p.Leu179Pro) c.245T>C (p.Leu82Pro) c.77-4134T>C (n.77-4134T>C) | gnomAD v4 |
16 | g.51141686A>T | CA395891617 | SALL1 | c.536T>A (p.Leu179His) c.245T>A (p.Leu82His) c.77-4134T>A (n.77-4134T>A) | |
16 | g.51141687G>A | CA395891619 | SALL1 | c.535C>T (p.Leu179Phe) c.244C>T (p.Leu82Phe) c.77-4135C>T (n.77-4135C>T) | gnomAD v4 |
16 | g.51141687G>C | CA395891620 | SALL1 | c.535C>G (p.Leu179Val) c.244C>G (p.Leu82Val) c.77-4135C>G (n.77-4135C>G) | gnomAD v4 |
16 | g.51141687G>T | CA395891622 | SALL1 | c.535C>A (p.Leu179Ile) c.244C>A (p.Leu82Ile) c.77-4135C>A (n.77-4135C>A) | |
16 | g.51141688T>A | CA395891623 | SALL1 | c.534A>T (p.Gln178His) c.243A>T (p.Gln81His) c.77-4136A>T (n.77-4136A>T) | |
16 | g.51141688T>C | CA495781449 | SALL1 | c.534A>G (p.Gln178=) c.243A>G (p.Gln81=) c.77-4136A>G (n.77-4136A>G) | gnomAD v4 |
16 | g.51141688T>G | CA395891625 | SALL1 | c.534A>C (p.Gln178His) c.243A>C (p.Gln81His) c.77-4136A>C (n.77-4136A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141688T= | CA2222022693 | SALL1 | c.534A= (p.Gln178=) c.243A= (p.Gln81=) c.77-4136A= (n.77-4136A=) | |
16 | g.51141689T>A | CA395891627 | SALL1 | c.533A>T (p.Gln178Leu) c.242A>T (p.Gln81Leu) c.77-4137A>T (n.77-4137A>T) | |
16 | g.51141689T>C | CA395891629 | SALL1 | c.533A>G (p.Gln178Arg) c.242A>G (p.Gln81Arg) c.77-4137A>G (n.77-4137A>G) | |
16 | g.51141689T>G | CA395891628 | SALL1 | c.533A>C (p.Gln178Pro) c.242A>C (p.Gln81Pro) c.77-4137A>C (n.77-4137A>C) | gnomAD v4 |
16 | g.51141690G>A | CA395891631 | SALL1 | c.532C>T (p.Gln178Ter) c.241C>T (p.Gln81Ter) c.77-4138C>T (n.77-4138C>T) | |
16 | g.51141690G>C | CA395891633 | SALL1 | c.532C>G (p.Gln178Glu) c.241C>G (p.Gln81Glu) c.77-4138C>G (n.77-4138C>G) | |
16 | g.51141690G>T | CA395891634 | SALL1 | c.532C>A (p.Gln178Lys) c.241C>A (p.Gln81Lys) c.77-4138C>A (n.77-4138C>A) | |
16 | g.51141691A>C | CA495781450 | SALL1 | c.531T>G (p.Pro177=) c.240T>G (p.Pro80=) c.77-4139T>G (n.77-4139T>G) | |
16 | g.51141691A>G | CA495781451 | SALL1 | c.531T>C (p.Pro177=) c.240T>C (p.Pro80=) c.77-4139T>C (n.77-4139T>C) | |
16 | g.51141691A>T | CA495781452 | SALL1 | c.531T>A (p.Pro177=) c.240T>A (p.Pro80=) c.77-4139T>A (n.77-4139T>A) | |
16 | g.51141692G>A | CA395891635 | SALL1 | c.530C>T (p.Pro177Leu) c.239C>T (p.Pro80Leu) c.77-4140C>T (n.77-4140C>T) | |
16 | g.51141692G>C | CA395891636 | SALL1 | c.530C>G (p.Pro177Arg) c.239C>G (p.Pro80Arg) c.77-4140C>G (n.77-4140C>G) | |
16 | g.51141692G>T | CA395891638 | SALL1 | c.530C>A (p.Pro177His) c.239C>A (p.Pro80His) c.77-4140C>A (n.77-4140C>A) | |
16 | g.51141693G>A | CA395891639 | SALL1 | c.529C>T (p.Pro177Ser) c.238C>T (p.Pro80Ser) c.77-4141C>T (n.77-4141C>T) | |
16 | g.51141693G>C | CA395891640 | SALL1 | c.529C>G (p.Pro177Ala) c.238C>G (p.Pro80Ala) c.77-4141C>G (n.77-4141C>G) | |
16 | g.51141693G>T | CA395891641 | SALL1 | c.529C>A (p.Pro177Thr) c.238C>A (p.Pro80Thr) c.77-4141C>A (n.77-4141C>A) | |
16 | g.51141694T>A | CA495781453 | SALL1 | c.528A>T (p.Leu176=) c.237A>T (p.Leu79=) c.77-4142A>T (n.77-4142A>T) | |
16 | g.51141694T>C | CA495781454 | SALL1 | c.528A>G (p.Leu176=) c.237A>G (p.Leu79=) c.77-4142A>G (n.77-4142A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141694T>G | CA495781455 | SALL1 | c.528A>C (p.Leu176=) c.237A>C (p.Leu79=) c.77-4142A>C (n.77-4142A>C) | |
16 | g.51141694T= | CA2222022698 | SALL1 | c.528A= (p.Leu176=) c.237A= (p.Leu79=) c.77-4142A= (n.77-4142A=) | |
16 | g.51141695A= | CA2222022701 | SALL1 | c.527T= (p.Leu176=) c.236T= (p.Leu79=) c.77-4143T= (n.77-4143T=) | |
16 | g.51141695A>C | CA395891643 | SALL1 | c.527T>G (p.Leu176Arg) c.236T>G (p.Leu79Arg) c.77-4143T>G (n.77-4143T>G) | |
16 | g.51141695A>G | CA395891644 | SALL1 | c.527T>C (p.Leu176Pro) c.236T>C (p.Leu79Pro) c.77-4143T>C (n.77-4143T>C) | |
16 | g.51141695A>T | CA395891646 | SALL1 | c.527T>A (p.Leu176Gln) c.236T>A (p.Leu79Gln) c.77-4143T>A (n.77-4143T>A) | dbSNP |
16 | g.51141696G>A | CA495781456 | SALL1 | c.526C>T (p.Leu176=) c.235C>T (p.Leu79=) c.77-4144C>T (n.77-4144C>T) | |
16 | g.51141696G>C | CA395891647 | SALL1 | c.526C>G (p.Leu176Val) c.235C>G (p.Leu79Val) c.77-4144C>G (n.77-4144C>G) | |
16 | g.51141696G>T | CA395891649 | SALL1 | c.526C>A (p.Leu176Ile) c.235C>A (p.Leu79Ile) c.77-4144C>A (n.77-4144C>A) | |
16 | g.51141697A>C | CA495781457 | SALL1 | c.525T>G (p.Ser175=) c.234T>G (p.Ser78=) c.77-4145T>G (n.77-4145T>G) | |
16 | g.51141697A>G | CA495781458 | SALL1 | c.525T>C (p.Ser175=) c.234T>C (p.Ser78=) c.77-4145T>C (n.77-4145T>C) | |
16 | g.51141697A>T | CA495781459 | SALL1 | c.525T>A (p.Ser175=) c.234T>A (p.Ser78=) c.77-4145T>A (n.77-4145T>A) | |
16 | g.51141698G>A | CA395891651 | SALL1 | c.524C>T (p.Ser175Phe) c.233C>T (p.Ser78Phe) c.77-4146C>T (n.77-4146C>T) | |
16 | g.51141698G>C | CA395891652 | SALL1 | c.524C>G (p.Ser175Cys) c.233C>G (p.Ser78Cys) c.77-4146C>G (n.77-4146C>G) | |
16 | g.51141698G>T | CA395891653 | SALL1 | c.524C>A (p.Ser175Tyr) c.233C>A (p.Ser78Tyr) c.77-4146C>A (n.77-4146C>A) | |
16 | g.51141699A= | CA2222022702 | SALL1 | c.523T= (p.Ser175=) c.232T= (p.Ser78=) c.77-4147T= (n.77-4147T=) | |
16 | g.51141699A>C | CA395891655 | SALL1 | c.523T>G (p.Ser175Ala) c.232T>G (p.Ser78Ala) c.77-4147T>G (n.77-4147T>G) | |
16 | g.51141699A>G | CA395891656 | SALL1 | c.523T>C (p.Ser175Pro) c.232T>C (p.Ser78Pro) c.77-4147T>C (n.77-4147T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141699A>T | CA395891658 | SALL1 | c.523T>A (p.Ser175Thr) c.232T>A (p.Ser78Thr) c.77-4147T>A (n.77-4147T>A) | |
16 | g.51141700G>A | CA495781461 | SALL1 | c.522C>T (p.Thr174=) c.231C>T (p.Thr77=) c.77-4148C>T (n.77-4148C>T) | |
16 | g.51141700G>C | CA495781462 | SALL1 | c.522C>G (p.Thr174=) c.231C>G (p.Thr77=) c.77-4148C>G (n.77-4148C>G) | |
16 | g.51141700G>T | CA495781460 | SALL1 | c.522C>A (p.Thr174=) c.231C>A (p.Thr77=) c.77-4148C>A (n.77-4148C>A) | |
16 | g.51141701G>A | CA8053441 | SALL1 | c.521C>T (p.Thr174Ile) c.230C>T (p.Thr77Ile) c.77-4149C>T (n.77-4149C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141701G>C | CA395891661 | SALL1 | c.521C>G (p.Thr174Ser) c.230C>G (p.Thr77Ser) c.77-4149C>G (n.77-4149C>G) | |
16 | g.51141701G= | CA2222022705 | SALL1 | c.521C= (p.Thr174=) c.230C= (p.Thr77=) c.77-4149C= (n.77-4149C=) | |
16 | g.51141701G>T | CA395891660 | SALL1 | c.521C>A (p.Thr174Asn) c.230C>A (p.Thr77Asn) c.77-4149C>A (n.77-4149C>A) | |
16 | g.51141702T>A | CA395891663 | SALL1 | c.520A>T (p.Thr174Ser) c.229A>T (p.Thr77Ser) c.77-4150A>T (n.77-4150A>T) | |
16 | g.51141702T>C | CA395891665 | SALL1 | c.520A>G (p.Thr174Ala) c.229A>G (p.Thr77Ala) c.77-4150A>G (n.77-4150A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141702T>G | CA395891666 | SALL1 | c.520A>C (p.Thr174Pro) c.229A>C (p.Thr77Pro) c.77-4150A>C (n.77-4150A>C) | |
16 | g.51141702T= | CA2222022710 | SALL1 | c.520A= (p.Thr174=) c.229A= (p.Thr77=) c.77-4150A= (n.77-4150A=) | |
16 | g.51141703T>A | CA495781463 | SALL1 | c.519A>T (p.Thr173=) c.228A>T (p.Thr76=) c.77-4151A>T (n.77-4151A>T) | gnomAD v4 |
16 | g.51141703T>C | CA495781464 | SALL1 | c.519A>G (p.Thr173=) c.228A>G (p.Thr76=) c.77-4151A>G (n.77-4151A>G) | |
16 | g.51141703T>G | CA495781465 | SALL1 | c.519A>C (p.Thr173=) c.228A>C (p.Thr76=) c.77-4151A>C (n.77-4151A>C) | |
16 | g.51141704G>A | CA395891668 | SALL1 | c.518C>T (p.Thr173Ile) c.227C>T (p.Thr76Ile) c.77-4152C>T (n.77-4152C>T) | COSMIC |
16 | g.51141704G>C | CA395891669 | SALL1 | c.518C>G (p.Thr173Arg) c.227C>G (p.Thr76Arg) c.77-4152C>G (n.77-4152C>G) | |
16 | g.51141704G>T | CA395891671 | SALL1 | c.518C>A (p.Thr173Lys) c.227C>A (p.Thr76Lys) c.77-4152C>A (n.77-4152C>A) | |
16 | g.51141705T>A | CA395891673 | SALL1 | c.517A>T (p.Thr173Ser) c.226A>T (p.Thr76Ser) c.77-4153A>T (n.77-4153A>T) | |
16 | g.51141705T>C | CA395891676 | SALL1 | c.517A>G (p.Thr173Ala) c.226A>G (p.Thr76Ala) c.77-4153A>G (n.77-4153A>G) | |
16 | g.51141705T>G | CA395891675 | SALL1 | c.517A>C (p.Thr173Pro) c.226A>C (p.Thr76Pro) c.77-4153A>C (n.77-4153A>C) | |
16 | g.51141706G>A | CA495781466 | SALL1 | c.516C>T (p.Ile172=) c.225C>T (p.Ile75=) c.77-4154C>T (n.77-4154C>T) | dbSNP gnomAD v4 |
16 | g.51141706G>C | CA395891678 | SALL1 | c.516C>G (p.Ile172Met) c.225C>G (p.Ile75Met) c.77-4154C>G (n.77-4154C>G) | gnomAD v4 |
16 | g.51141706G= | CA2222022714 | SALL1 | c.516C= (p.Ile172=) c.225C= (p.Ile75=) c.77-4154C= (n.77-4154C=) | |
16 | g.51141706G>T | CA495781467 | SALL1 | c.516C>A (p.Ile172=) c.225C>A (p.Ile75=) c.77-4154C>A (n.77-4154C>A) | |
16 | g.51141707A>C | CA395891679 | SALL1 | c.515T>G (p.Ile172Ser) c.224T>G (p.Ile75Ser) c.77-4155T>G (n.77-4155T>G) | |
16 | g.51141707A>G | CA395891681 | SALL1 | c.515T>C (p.Ile172Thr) c.224T>C (p.Ile75Thr) c.77-4155T>C (n.77-4155T>C) | |
16 | g.51141707A>T | CA395891682 | SALL1 | c.515T>A (p.Ile172Asn) c.224T>A (p.Ile75Asn) c.77-4155T>A (n.77-4155T>A) | |
16 | g.51141708T>A | CA395891684 | SALL1 | c.514A>T (p.Ile172Phe) c.223A>T (p.Ile75Phe) c.77-4156A>T (n.77-4156A>T) | |
16 | g.51141708T>C | CA395891685 | SALL1 | c.514A>G (p.Ile172Val) c.223A>G (p.Ile75Val) c.77-4156A>G (n.77-4156A>G) | |
16 | g.51141708T>G | CA395891687 | SALL1 | c.514A>C (p.Ile172Leu) c.223A>C (p.Ile75Leu) c.77-4156A>C (n.77-4156A>C) | |
16 | g.51141709C>A | CA8053442 | SALL1 | c.513G>T (p.Ala171=) c.222G>T (p.Ala74=) c.77-4157G>T (n.77-4157G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141709C= | CA2222022718 | SALL1 | c.513G= (p.Ala171=) c.222G= (p.Ala74=) c.77-4157G= (n.77-4157G=) | |
16 | g.51141709C>G | CA495781468 | SALL1 | c.513G>C (p.Ala171=) c.222G>C (p.Ala74=) c.77-4157G>C (n.77-4157G>C) | |
16 | g.51141709C>T | CA495781469 | SALL1 | c.513G>A (p.Ala171=) c.222G>A (p.Ala74=) c.77-4157G>A (n.77-4157G>A) | gnomAD v4 COSMIC |
16 | g.51141710G>A | CA8053443 | SALL1 | c.512C>T (p.Ala171Val) c.221C>T (p.Ala74Val) c.77-4158C>T (n.77-4158C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141710G>C | CA395891690 | SALL1 | c.512C>G (p.Ala171Gly) c.221C>G (p.Ala74Gly) c.77-4158C>G (n.77-4158C>G) | gnomAD v4 |
16 | g.51141710G= | CA2222022721 | SALL1 | c.512C= (p.Ala171=) c.221C= (p.Ala74=) c.77-4158C= (n.77-4158C=) | |
16 | g.51141710G>T | CA395891692 | SALL1 | c.512C>A (p.Ala171Glu) c.221C>A (p.Ala74Glu) c.77-4158C>A (n.77-4158C>A) | gnomAD v4 |
16 | g.51141714_51141757dup | CA2580091583 | SALL1 | c.469_512dup (p.Ile172AlafsTer26) c.178_221dup (p.Ile75AlafsTer26) c.77-4201_77-4158dup (n.77-4201_77-4158dup) | ClinVar |
16 | g.51141711C>A | CA395891694 | SALL1 | c.511G>T (p.Ala171Ser) c.220G>T (p.Ala74Ser) c.77-4159G>T (n.77-4159G>T) | |
16 | g.51141711C>G | CA395891697 | SALL1 | c.511G>C (p.Ala171Pro) c.220G>C (p.Ala74Pro) c.77-4159G>C (n.77-4159G>C) | |
16 | g.51141711C>T | CA395891695 | SALL1 | c.511G>A (p.Ala171Thr) c.220G>A (p.Ala74Thr) c.77-4159G>A (n.77-4159G>A) | |
16 | g.51141712T>A | CA495781470 | SALL1 | c.510A>T (p.Ser170=) c.219A>T (p.Ser73=) c.77-4160A>T (n.77-4160A>T) | |
16 | g.51141712T>C | CA495781472 | SALL1 | c.510A>G (p.Ser170=) c.219A>G (p.Ser73=) c.77-4160A>G (n.77-4160A>G) | gnomAD v4 |
16 | g.51141712T>G | CA495781471 | SALL1 | c.510A>C (p.Ser170=) c.219A>C (p.Ser73=) c.77-4160A>C (n.77-4160A>C) | |
16 | g.51141713G>A | CA395891699 | SALL1 | c.509C>T (p.Ser170Leu) c.218C>T (p.Ser73Leu) c.77-4161C>T (n.77-4161C>T) | |
16 | g.51141713G>C | CA395891702 | SALL1 | c.509C>G (p.Ser170Ter) c.218C>G (p.Ser73Ter) c.77-4161C>G (n.77-4161C>G) | |
16 | g.51141713G>T | CA395891700 | SALL1 | c.509C>A (p.Ser170Ter) c.218C>A (p.Ser73Ter) c.77-4161C>A (n.77-4161C>A) | |
16 | g.51141714A>C | CA395891703 | SALL1 | c.508T>G (p.Ser170Ala) c.217T>G (p.Ser73Ala) c.77-4162T>G (n.77-4162T>G) | |
16 | g.51141714A>G | CA395891705 | SALL1 | c.508T>C (p.Ser170Pro) c.217T>C (p.Ser73Pro) c.77-4162T>C (n.77-4162T>C) | |
16 | g.51141714A>T | CA395891706 | SALL1 | c.508T>A (p.Ser170Thr) c.217T>A (p.Ser73Thr) c.77-4162T>A (n.77-4162T>A) | |
16 | g.51141715G>A | CA8053444 | SALL1 | c.507C>T (p.Thr169=) c.216C>T (p.Thr72=) c.77-4163C>T (n.77-4163C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141715G>C | CA495781473 | SALL1 | c.507C>G (p.Thr169=) c.216C>G (p.Thr72=) c.77-4163C>G (n.77-4163C>G) | |
16 | g.51141715G= | CA2222022725 | SALL1 | c.507C= (p.Thr169=) c.216C= (p.Thr72=) c.77-4163C= (n.77-4163C=) | |
16 | g.51141715G>T | CA495781474 | SALL1 | c.507C>A (p.Thr169=) c.216C>A (p.Thr72=) c.77-4163C>A (n.77-4163C>A) | |
16 | g.51141716G>A | CA395891708 | SALL1 | c.506C>T (p.Thr169Ile) c.215C>T (p.Thr72Ile) c.77-4164C>T (n.77-4164C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141716G>C | CA395891710 | SALL1 | c.506C>G (p.Thr169Ser) c.215C>G (p.Thr72Ser) c.77-4164C>G (n.77-4164C>G) | |
16 | g.51141716G= | CA2222022728 | SALL1 | c.506C= (p.Thr169=) c.215C= (p.Thr72=) c.77-4164C= (n.77-4164C=) | |
16 | g.51141716G>T | CA395891712 | SALL1 | c.506C>A (p.Thr169Asn) c.215C>A (p.Thr72Asn) c.77-4164C>A (n.77-4164C>A) | |
16 | g.51141717T>A | CA395891713 | SALL1 | c.505A>T (p.Thr169Ser) c.214A>T (p.Thr72Ser) c.77-4165A>T (n.77-4165A>T) | |
16 | g.51141717T>C | CA281303048 | SALL1 | c.505A>G (p.Thr169Ala) c.214A>G (p.Thr72Ala) c.77-4165A>G (n.77-4165A>G) | dbSNP |
16 | g.51141717T>G | CA395891715 | SALL1 | c.505A>C (p.Thr169Pro) c.214A>C (p.Thr72Pro) c.77-4165A>C (n.77-4165A>C) | |
16 | g.51141717T= | CA2222022731 | SALL1 | c.505A= (p.Thr169=) c.214A= (p.Thr72=) c.77-4165A= (n.77-4165A=) | |
16 | g.51141718A= | CA2222022735 | SALL1 | c.504T= (p.Gly168=) c.213T= (p.Gly71=) c.77-4166T= (n.77-4166T=) | |
16 | g.51141718A>C | CA495781475 | SALL1 | c.504T>G (p.Gly168=) c.213T>G (p.Gly71=) c.77-4166T>G (n.77-4166T>G) | |
16 | g.51141718A>G | CA495781476 | SALL1 | c.504T>C (p.Gly168=) c.213T>C (p.Gly71=) c.77-4166T>C (n.77-4166T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141718A>T | CA495781477 | SALL1 | c.504T>A (p.Gly168=) c.213T>A (p.Gly71=) c.77-4166T>A (n.77-4166T>A) | |
16 | g.51141719C>A | CA395891719 | SALL1 | c.503G>T (p.Gly168Val) c.212G>T (p.Gly71Val) c.77-4167G>T (n.77-4167G>T) | |
16 | g.51141719C= | CA2222022742 | SALL1 | c.503G= (p.Gly168=) c.212G= (p.Gly71=) c.77-4167G= (n.77-4167G=) | |
16 | g.51141719C>G | CA395891718 | SALL1 | c.503G>C (p.Gly168Ala) c.212G>C (p.Gly71Ala) c.77-4167G>C (n.77-4167G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141719C>T | CA8053445 | SALL1 | c.503G>A (p.Gly168Asp) c.212G>A (p.Gly71Asp) c.77-4167G>A (n.77-4167G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141720C>A | CA395891721 | SALL1 | c.502G>T (p.Gly168Cys) c.211G>T (p.Gly71Cys) c.77-4168G>T (n.77-4168G>T) | |
16 | g.51141720C= | CA2222022744 | SALL1 | c.502G= (p.Gly168=) c.211G= (p.Gly71=) c.77-4168G= (n.77-4168G=) | |
16 | g.51141720C>G | CA395891723 | SALL1 | c.502G>C (p.Gly168Arg) c.211G>C (p.Gly71Arg) c.77-4168G>C (n.77-4168G>C) | |
16 | g.51141720C>T | CA395891724 | SALL1 | c.502G>A (p.Gly168Ser) c.211G>A (p.Gly71Ser) c.77-4168G>A (n.77-4168G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141721T>A | CA495781478 | SALL1 | c.501A>T (p.Thr167=) c.210A>T (p.Thr70=) c.77-4169A>T (n.77-4169A>T) | |
16 | g.51141721T>C | CA495781479 | SALL1 | c.501A>G (p.Thr167=) c.210A>G (p.Thr70=) c.77-4169A>G (n.77-4169A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141721T>G | CA495781480 | SALL1 | c.501A>C (p.Thr167=) c.210A>C (p.Thr70=) c.77-4169A>C (n.77-4169A>C) | |
16 | g.51141721T= | CA2222022747 | SALL1 | c.501A= (p.Thr167=) c.210A= (p.Thr70=) c.77-4169A= (n.77-4169A=) | |
16 | g.51141722G>A | CA395891726 | SALL1 | c.500C>T (p.Thr167Ile) c.209C>T (p.Thr70Ile) c.77-4170C>T (n.77-4170C>T) | |
16 | g.51141722G>C | CA395891727 | SALL1 | c.500C>G (p.Thr167Arg) c.209C>G (p.Thr70Arg) c.77-4170C>G (n.77-4170C>G) | |
16 | g.51141722G>T | CA395891729 | SALL1 | c.500C>A (p.Thr167Lys) c.209C>A (p.Thr70Lys) c.77-4170C>A (n.77-4170C>A) | |
16 | g.51141723T>A | CA395891730 | SALL1 | c.499A>T (p.Thr167Ser) c.208A>T (p.Thr70Ser) c.77-4171A>T (n.77-4171A>T) | |
16 | g.51141723T>C | CA8053446 | SALL1 | c.499A>G (p.Thr167Ala) c.208A>G (p.Thr70Ala) c.77-4171A>G (n.77-4171A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141723T>G | CA395891733 | SALL1 | c.499A>C (p.Thr167Pro) c.208A>C (p.Thr70Pro) c.77-4171A>C (n.77-4171A>C) | gnomAD v4 |
16 | g.51141723T= | CA2222022751 | SALL1 | c.499A= (p.Thr167=) c.208A= (p.Thr70=) c.77-4171A= (n.77-4171A=) | |
16 | g.51141724G>A | CA495781481 | SALL1 | c.498C>T (p.Ser166=) c.207C>T (p.Ser69=) c.77-4172C>T (n.77-4172C>T) | |
16 | g.51141724G>C | CA495781482 | SALL1 | c.498C>G (p.Ser166=) c.207C>G (p.Ser69=) c.77-4172C>G (n.77-4172C>G) | |
16 | g.51141724G>T | CA495781483 | SALL1 | c.498C>A (p.Ser166=) c.207C>A (p.Ser69=) c.77-4172C>A (n.77-4172C>A) | |
16 | g.51141725G>A | CA395891734 | SALL1 | c.497C>T (p.Ser166Phe) c.206C>T (p.Ser69Phe) c.77-4173C>T (n.77-4173C>T) | |
16 | g.51141725G>C | CA395891735 | SALL1 | c.497C>G (p.Ser166Cys) c.206C>G (p.Ser69Cys) c.77-4173C>G (n.77-4173C>G) | |
16 | g.51141725G>T | CA395891736 | SALL1 | c.497C>A (p.Ser166Tyr) c.206C>A (p.Ser69Tyr) c.77-4173C>A (n.77-4173C>A) | |
16 | g.51141726A>C | CA395891738 | SALL1 | c.496T>G (p.Ser166Ala) c.205T>G (p.Ser69Ala) c.77-4174T>G (n.77-4174T>G) | |
16 | g.51141726A>G | CA395891739 | SALL1 | c.496T>C (p.Ser166Pro) c.205T>C (p.Ser69Pro) c.77-4174T>C (n.77-4174T>C) | COSMIC |
16 | g.51141726A>T | CA395891737 | SALL1 | c.496T>A (p.Ser166Thr) c.205T>A (p.Ser69Thr) c.77-4174T>A (n.77-4174T>A) | |
16 | g.51141727G>A | CA495781484 | SALL1 | c.495C>T (p.Ser165=) c.204C>T (p.Ser68=) c.77-4175C>T (n.77-4175C>T) | gnomAD v4 |
16 | g.51141727G>C | CA281303056 | SALL1 | c.495C>G (p.Ser165=) c.204C>G (p.Ser68=) c.77-4175C>G (n.77-4175C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141727G= | CA2222022757 | SALL1 | c.495C= (p.Ser165=) c.204C= (p.Ser68=) c.77-4175C= (n.77-4175C=) | |
16 | g.51141727G>T | CA495781485 | SALL1 | c.495C>A (p.Ser165=) c.204C>A (p.Ser68=) c.77-4175C>A (n.77-4175C>A) | |
16 | g.51141728G>A | CA8053447 | SALL1 | c.494C>T (p.Ser165Phe) c.203C>T (p.Ser68Phe) c.77-4176C>T (n.77-4176C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.51141728G>C | CA395891741 | SALL1 | c.494C>G (p.Ser165Cys) c.203C>G (p.Ser68Cys) c.77-4176C>G (n.77-4176C>G) | |
16 | g.51141728G= | CA2222022762 | SALL1 | c.494C= (p.Ser165=) c.203C= (p.Ser68=) c.77-4176C= (n.77-4176C=) | |
16 | g.51141728G>T | CA395891743 | SALL1 | c.494C>A (p.Ser165Tyr) c.203C>A (p.Ser68Tyr) c.77-4176C>A (n.77-4176C>A) | |
16 | g.51141729A= | CA2222022768 | SALL1 | c.493T= (p.Ser165=) c.202T= (p.Ser68=) c.77-4177T= (n.77-4177T=) | |
16 | g.51141729A>C | CA395891744 | SALL1 | c.493T>G (p.Ser165Ala) c.202T>G (p.Ser68Ala) c.77-4177T>G (n.77-4177T>G) | |
16 | g.51141729A>G | CA395891748 | SALL1 | c.493T>C (p.Ser165Pro) c.202T>C (p.Ser68Pro) c.77-4177T>C (n.77-4177T>C) | |
16 | g.51141729A>T | CA395891754 | SALL1 | c.493T>A (p.Ser165Thr) c.202T>A (p.Ser68Thr) c.77-4177T>A (n.77-4177T>A) | |
16 | g.51141729_51141750delinsAGCTGCCGCCGCCGCCGCTGCT | CA2222022772 | SALL1 | c.472_493delinsAGCAGCGGCGGCGGCGGCAGCT (p.Ser158=) c.181_202delinsAGCAGCGGCGGCGGCGGCAGCT (p.Ser61=) c.77-4198_77-4177delinsAGCAGCGGCGGCGGCGGCAGCT (n.77-4198_77-4177delinsAGCAGCGGCGGCGGCGGCAGCT) | |
16 | g.51141730G>A | CA495781486 | SALL1 | c.492C>T (p.Ser164=) c.201C>T (p.Ser67=) c.77-4178C>T (n.77-4178C>T) | gnomAD v4 |
16 | g.51141730G>C | CA395891756 | SALL1 | c.492C>G (p.Ser164Arg) c.201C>G (p.Ser67Arg) c.77-4178C>G (n.77-4178C>G) | gnomAD v4 |
16 | g.51141730G>T | CA395891757 | SALL1 | c.492C>A (p.Ser164Arg) c.201C>A (p.Ser67Arg) c.77-4178C>A (n.77-4178C>A) | |
16 | g.51141732_51141734dup | CA2575992067 | SALL1 | c.490_492dup (p.Ser164_Ser165insSer) c.199_201dup (p.Ser67_Ser68insSer) c.77-4180_77-4178dup (n.77-4180_77-4178dup) | gnomAD v4 |
16 | g.51141732_51141737dup | CA622654498 | SALL1 | c.487_492dup (p.Ser164_Ser165insGlySer) c.196_201dup (p.Ser67_Ser68insGlySer) c.77-4183_77-4178dup (n.77-4183_77-4178dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141735_51141749dup | CA2633181096 | SALL1 | c.478_492dup (p.Ser164_Ser165insGlyGlyGlyGlySer) c.187_201dup (p.Ser67_Ser68insGlyGlyGlyGlySer) c.77-4192_77-4178dup (n.77-4192_77-4178dup) | gnomAD v4 |
16 | g.51141735_51141755del | CA622654497 | SALL1 | c.472_492del (p.Ser158_Ser164del) c.181_201del (p.Ser61_Ser67del) c.77-4198_77-4178del (n.77-4198_77-4178del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141731C>A | CA395891759 | SALL1 | c.491G>T (p.Ser164Ile) c.200G>T (p.Ser67Ile) c.77-4179G>T (n.77-4179G>T) | |
16 | g.51141731C= | CA2222022784 | SALL1 | c.491G= (p.Ser164=) c.200G= (p.Ser67=) c.77-4179G= (n.77-4179G=) | |
16 | g.51141731C>G | CA395891760 | SALL1 | c.491G>C (p.Ser164Thr) c.200G>C (p.Ser67Thr) c.77-4179G>C (n.77-4179G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141731C>T | CA395891762 | SALL1 | c.491G>A (p.Ser164Asn) c.200G>A (p.Ser67Asn) c.77-4179G>A (n.77-4179G>A) | dbSNP gnomAD v4 |