Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |