Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.27095462dup | CA2578852732 | HOXA1 | c.455dup (p.Ala153ArgfsTer25) c.354+101dup (n.354+101dup) | |
7 | g.27095459C>A | CA367068533 | HOXA1 | c.454G>T (p.Gly152Cys) c.354+100G>T (n.354+100G>T) | |
7 | g.27095459C>G | CA367068534 | HOXA1 | c.454G>C (p.Gly152Arg) c.354+100G>C (n.354+100G>C) | |
7 | g.27095459C>T | CA367068535 | HOXA1 | c.454G>A (p.Gly152Ser) c.354+100G>A (n.354+100G>A) | |
7 | g.27095460C>A | CA454507713 | HOXA1 | c.453G>T (p.Gly151=) c.354+99G>T (n.354+99G>T) | |
7 | g.27095460C= | CA1696186908 | HOXA1 | c.453G= (p.Gly151=) c.354+99G= (n.354+99G=) | |
7 | g.27095460C>G | CA454507715 | HOXA1 | c.453G>C (p.Gly151=) c.354+99G>C (n.354+99G>C) | |
7 | g.27095460C>T | CA454507716 | HOXA1 | c.453G>A (p.Gly151=) c.354+99G>A (n.354+99G>A) | dbSNP gnomAD v4 COSMIC |
7 | g.27095461C>A | CA4195937 | HOXA1 | c.452G>T (p.Gly151Val) c.354+98G>T (n.354+98G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.27095461C= | CA1696186910 | HOXA1 | c.452G= (p.Gly151=) c.354+98G= (n.354+98G=) | |
7 | g.27095461C>G | CA367068536 | HOXA1 | c.452G>C (p.Gly151Ala) c.354+98G>C (n.354+98G>C) | |
7 | g.27095461C>T | CA367068537 | HOXA1 | c.452G>A (p.Gly151Glu) c.354+98G>A (n.354+98G>A) | |
7 | g.27095462C>A | CA367068538 | HOXA1 | c.451G>T (p.Gly151Trp) c.354+97G>T (n.354+97G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095462C= | CA1696186911 | HOXA1 | c.451G= (p.Gly151=) c.354+97G= (n.354+97G=) | |
7 | g.27095462C>G | CA367068539 | HOXA1 | c.451G>C (p.Gly151Arg) c.354+97G>C (n.354+97G>C) | |
7 | g.27095462C>T | CA367068540 | HOXA1 | c.451G>A (p.Gly151Arg) c.354+97G>A (n.354+97G>A) | |
7 | g.27095463A>C | CA454507721 | HOXA1 | c.450T>G (p.Ala150=) c.354+96T>G (n.354+96T>G) | |
7 | g.27095463A>G | CA454507722 | HOXA1 | c.450T>C (p.Ala150=) c.354+96T>C (n.354+96T>C) | |
7 | g.27095463A>T | CA454507724 | HOXA1 | c.450T>A (p.Ala150=) c.354+96T>A (n.354+96T>A) | |
7 | g.27095464G>A | CA367068543 | HOXA1 | c.449C>T (p.Ala150Val) c.354+95C>T (n.354+95C>T) | gnomAD v4 |
7 | g.27095464G>C | CA367068541 | HOXA1 | c.449C>G (p.Ala150Gly) c.354+95C>G (n.354+95C>G) | gnomAD v4 |
7 | g.27095464G>T | CA367068542 | HOXA1 | c.449C>A (p.Ala150Asp) c.354+95C>A (n.354+95C>A) | |
7 | g.27095465C>A | CA367068544 | HOXA1 | c.448G>T (p.Ala150Ser) c.354+94G>T (n.354+94G>T) | |
7 | g.27095465C= | CA1696186913 | HOXA1 | c.448G= (p.Ala150=) c.354+94G= (n.354+94G=) | |
7 | g.27095465C>G | CA367068545 | HOXA1 | c.448G>C (p.Ala150Pro) c.354+94G>C (n.354+94G>C) | |
7 | g.27095465C>T | CA367068546 | HOXA1 | c.448G>A (p.Ala150Thr) c.354+94G>A (n.354+94G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095466A>C | CA367068547 | HOXA1 | c.447T>G (p.Tyr149Ter) c.354+93T>G (n.354+93T>G) | |
7 | g.27095466A>G | CA454507734 | HOXA1 | c.447T>C (p.Tyr149=) c.354+93T>C (n.354+93T>C) | |
7 | g.27095466A>T | CA367068548 | HOXA1 | c.447T>A (p.Tyr149Ter) c.354+93T>A (n.354+93T>A) | |
7 | g.27095467T>A | CA367068549 | HOXA1 | c.446A>T (p.Tyr149Phe) c.354+92A>T (n.354+92A>T) | |
7 | g.27095467T>C | CA367068550 | HOXA1 | c.446A>G (p.Tyr149Cys) c.354+92A>G (n.354+92A>G) | gnomAD v4 |
7 | g.27095467T>G | CA367068551 | HOXA1 | c.446A>C (p.Tyr149Ser) c.354+92A>C (n.354+92A>C) | |
7 | g.27095467dup | CA2578852733 | HOXA1 | c.446dup (p.Tyr149Ter) c.354+92dup (n.354+92dup) | gnomAD v4 |
7 | g.27095468A>C | CA367068552 | HOXA1 | c.445T>G (p.Tyr149Asp) c.354+91T>G (n.354+91T>G) | |
7 | g.27095468A>G | CA367068553 | HOXA1 | c.445T>C (p.Tyr149His) c.354+91T>C (n.354+91T>C) | |
7 | g.27095468A>T | CA367068554 | HOXA1 | c.445T>A (p.Tyr149Asn) c.354+91T>A (n.354+91T>A) | |
7 | g.27095469A>C | CA454507738 | HOXA1 | c.444T>G (p.Gly148=) c.354+90T>G (n.354+90T>G) | |
7 | g.27095469A>G | CA454507737 | HOXA1 | c.444T>C (p.Gly148=) c.354+90T>C (n.354+90T>C) | gnomAD v4 |
7 | g.27095469A>T | CA454507736 | HOXA1 | c.444T>A (p.Gly148=) c.354+90T>A (n.354+90T>A) | |
7 | g.27095470C>A | CA367068557 | HOXA1 | c.443G>T (p.Gly148Val) c.354+89G>T (n.354+89G>T) | dbSNP |
7 | g.27095470C= | CA1696186915 | HOXA1 | c.443G= (p.Gly148=) c.354+89G= (n.354+89G=) | |
7 | g.27095470C>G | CA367068556 | HOXA1 | c.443G>C (p.Gly148Ala) c.354+89G>C (n.354+89G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095470C>T | CA367068555 | HOXA1 | c.443G>A (p.Gly148Asp) c.354+89G>A (n.354+89G>A) | |
7 | g.27095471C>A | CA367068558 | HOXA1 | c.442G>T (p.Gly148Cys) c.354+88G>T (n.354+88G>T) | |
7 | g.27095471C= | CA1696186917 | HOXA1 | c.442G= (p.Gly148=) c.354+88G= (n.354+88G=) | |
7 | g.27095471C>G | CA4195939 | HOXA1 | c.442G>C (p.Gly148Arg) c.354+88G>C (n.354+88G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095471C>T | CA4195938 | HOXA1 | c.442G>A (p.Gly148Ser) c.354+88G>A (n.354+88G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095472C>A | CA367068559 | HOXA1 | c.441G>T (p.Gln147His) c.354+87G>T (n.354+87G>T) | |
7 | g.27095472C>G | CA367068560 | HOXA1 | c.441G>C (p.Gln147His) c.354+87G>C (n.354+87G>C) | |
7 | g.27095472C>T | CA454507748 | HOXA1 | c.441G>A (p.Gln147=) c.354+87G>A (n.354+87G>A) | |
7 | g.27095472_27095475delinsCTGG | CA1696186919 | HOXA1 | c.438_441delinsCCAG (p.His146=) c.354+84_354+87delinsCCAG (n.354+84_354+87delinsCCAG) | |
7 | g.27095473T>A | CA367068563 | HOXA1 | c.440A>T (p.Gln147Leu) c.354+86A>T (n.354+86A>T) | |
7 | g.27095473T>C | CA367068561 | HOXA1 | c.440A>G (p.Gln147Arg) c.354+86A>G (n.354+86A>G) | |
7 | g.27095473T>G | CA367068562 | HOXA1 | c.440A>C (p.Gln147Pro) c.354+86A>C (n.354+86A>C) | |
7 | g.27095484_27095486dup | CA4195940 | HOXA1 | c.438_440dup (p.His146_Gln147insHis) c.354+84_354+86dup (n.354+84_354+86dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095484_27095486del | CA573758416 | HOXA1 | c.438_440del (p.His146del) c.354+84_354+86del (n.354+84_354+86del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095474G>A | CA367068564 | HOXA1 | c.439C>T (p.Gln147Ter) c.354+85C>T (n.354+85C>T) | |
7 | g.27095474G>C | CA367068565 | HOXA1 | c.439C>G (p.Gln147Glu) c.354+85C>G (n.354+85C>G) | dbSNP |
7 | g.27095474G>T | CA367068566 | HOXA1 | c.439C>A (p.Gln147Lys) c.354+85C>A (n.354+85C>A) | |
7 | g.27095475del | CA2840024878 | HOXA1 | c.439del (p.Gln147ArgfsTer?) c.354+85del (n.354+85del) | |
7 | g.27095475G>A | CA454507754 | HOXA1 | c.438C>T (p.His146=) c.354+84C>T (n.354+84C>T) | gnomAD v4 |
7 | g.27095475G>C | CA367068567 | HOXA1 | c.438C>G (p.His146Gln) c.354+84C>G (n.354+84C>G) | |
7 | g.27095475G>T | CA367068568 | HOXA1 | c.438C>A (p.His146Gln) c.354+84C>A (n.354+84C>A) | |
7 | g.27095476T>A | CA367068569 | HOXA1 | c.437A>T (p.His146Leu) c.354+83A>T (n.354+83A>T) | |
7 | g.27095476T>C | CA367068571 | HOXA1 | c.437A>G (p.His146Arg) c.354+83A>G (n.354+83A>G) | |
7 | g.27095476T>G | CA367068570 | HOXA1 | c.437A>C (p.His146Pro) c.354+83A>C (n.354+83A>C) | |
7 | g.27095477G>A | CA367068572 | HOXA1 | c.436C>T (p.His146Tyr) c.354+82C>T (n.354+82C>T) | gnomAD v4 |
7 | g.27095477G>C | CA367068573 | HOXA1 | c.436C>G (p.His146Asp) c.354+82C>G (n.354+82C>G) | |
7 | g.27095477G= | CA1696186923 | HOXA1 | c.436C= (p.His146=) c.354+82C= (n.354+82C=) | |
7 | g.27095477G>T | CA4195941 | HOXA1 | c.436C>A (p.His146Asn) c.354+82C>A (n.354+82C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095478G>A | CA4195942 | HOXA1 | c.435C>T (p.His145=) c.354+81C>T (n.354+81C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095478G>C | CA367068574 | HOXA1 | c.435C>G (p.His145Gln) c.354+81C>G (n.354+81C>G) | |
7 | g.27095478G= | CA1696186926 | HOXA1 | c.435C= (p.His145=) c.354+81C= (n.354+81C=) | |
7 | g.27095478G>T | CA367068575 | HOXA1 | c.435C>A (p.His145Gln) c.354+81C>A (n.354+81C>A) | |
7 | g.27095479T>A | CA367068576 | HOXA1 | c.434A>T (p.His145Leu) c.354+80A>T (n.354+80A>T) | dbSNP |
7 | g.27095479T>C | CA367068577 | HOXA1 | c.434A>G (p.His145Arg) c.354+80A>G (n.354+80A>G) | |
7 | g.27095479T>G | CA367068578 | HOXA1 | c.434A>C (p.His145Pro) c.354+80A>C (n.354+80A>C) | |
7 | g.27095479T= | CA1696186928 | HOXA1 | c.434A= (p.His145=) c.354+80A= (n.354+80A=) | |
7 | g.27095480G>A | CA367068579 | HOXA1 | c.433C>T (p.His145Tyr) c.354+79C>T (n.354+79C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.27095480G>C | CA367068580 | HOXA1 | c.433C>G (p.His145Asp) c.354+79C>G (n.354+79C>G) | |
7 | g.27095480G= | CA1696186930 | HOXA1 | c.433C= (p.His145=) c.354+79C= (n.354+79C=) | |
7 | g.27095480G>T | CA367068581 | HOXA1 | c.433C>A (p.His145Asn) c.354+79C>A (n.354+79C>A) | gnomAD v4 |
7 | g.27095481G>A | CA454507767 | HOXA1 | c.432C>T (p.His144=) c.354+78C>T (n.354+78C>T) | |
7 | g.27095481G>C | CA367068583 | HOXA1 | c.432C>G (p.His144Gln) c.354+78C>G (n.354+78C>G) | |
7 | g.27095481G= | CA1696186932 | HOXA1 | c.432C= (p.His144=) c.354+78C= (n.354+78C=) | |
7 | g.27095481G>T | CA367068582 | HOXA1 | c.432C>A (p.His144Gln) c.354+78C>A (n.354+78C>A) | |
7 | g.27095482T>A | CA367068584 | HOXA1 | c.431A>T (p.His144Leu) c.354+77A>T (n.354+77A>T) | COSMIC |
7 | g.27095482T>C | CA367068585 | HOXA1 | c.431A>G (p.His144Arg) c.354+77A>G (n.354+77A>G) | |
7 | g.27095482T>G | CA367068586 | HOXA1 | c.431A>C (p.His144Pro) c.354+77A>C (n.354+77A>C) | gnomAD v4 |
7 | g.27095483_27095484insTTG | CA1696186933 | HOXA1 | c.431_432insACA (p.His143_His144insGln) c.354+77_354+78insACA (n.354+77_354+78insACA) | dbSNP |
7 | g.27095483G>A | CA367068587 | HOXA1 | c.430C>T (p.His144Tyr) c.354+76C>T (n.354+76C>T) | |
7 | g.27095483G>C | CA367068588 | HOXA1 | c.430C>G (p.His144Asp) c.354+76C>G (n.354+76C>G) | |
7 | g.27095483G>T | CA367068589 | HOXA1 | c.430C>A (p.His144Asn) c.354+76C>A (n.354+76C>A) | gnomAD v4 |
7 | g.27095484del | CA2682128401 | HOXA1 | c.430del (p.His144ThrfsTer?) c.354+76del (n.354+76del) | gnomAD v4 |
7 | g.27095484G>A | CA454507774 | HOXA1 | c.429C>T (p.His143=) c.354+75C>T (n.354+75C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095484G>C | CA367068590 | HOXA1 | c.429C>G (p.His143Gln) c.354+75C>G (n.354+75C>G) | |
7 | g.27095484G= | CA1696186936 | HOXA1 | c.429C= (p.His143=) c.354+75C= (n.354+75C=) | |
7 | g.27095484G>T | CA367068591 | HOXA1 | c.429C>A (p.His143Gln) c.354+75C>A (n.354+75C>A) | dbSNP |
7 | g.27095485T>A | CA367068592 | HOXA1 | c.428A>T (p.His143Leu) c.354+74A>T (n.354+74A>T) | |
7 | g.27095485T>C | CA367068594 | HOXA1 | c.428A>G (p.His143Arg) c.354+74A>G (n.354+74A>G) | |
7 | g.27095485T>G | CA367068593 | HOXA1 | c.428A>C (p.His143Pro) c.354+74A>C (n.354+74A>C) | |
7 | g.27095487_27095489dup | CA837187183 | HOXA1 | c.426_428dup (p.His143_His144insHis) c.354+72_354+74dup (n.354+72_354+74dup) | dbSNP gnomAD v4 |
7 | g.27095486G>A | CA4195943 | HOXA1 | c.427C>T (p.His143Tyr) c.354+73C>T (n.354+73C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.27095486G>C | CA367068595 | HOXA1 | c.427C>G (p.His143Asp) c.354+73C>G (n.354+73C>G) | |
7 | g.27095486G= | CA1696186938 | HOXA1 | c.427C= (p.His143=) c.354+73C= (n.354+73C=) | |
7 | g.27095486G>T | CA367068596 | HOXA1 | c.427C>A (p.His143Asn) c.354+73C>A (n.354+73C>A) | |
7 | g.27095487A>C | CA367068597 | HOXA1 | c.426T>G (p.His142Gln) c.354+72T>G (n.354+72T>G) | |
7 | g.27095487A>G | CA454507780 | HOXA1 | c.426T>C (p.His142=) c.354+72T>C (n.354+72T>C) | dbSNP gnomAD v4 |
7 | g.27095487A>T | CA367068598 | HOXA1 | c.426T>A (p.His142Gln) c.354+72T>A (n.354+72T>A) | |
7 | g.27095488T>A | CA367068599 | HOXA1 | c.425A>T (p.His142Leu) c.354+71A>T (n.354+71A>T) | |
7 | g.27095488T>C | CA367068601 | HOXA1 | c.425A>G (p.His142Arg) c.354+71A>G (n.354+71A>G) | |
7 | g.27095488T>G | CA367068600 | HOXA1 | c.425A>C (p.His142Pro) c.354+71A>C (n.354+71A>C) | |
7 | g.27095489G>A | CA367068602 | HOXA1 | c.424C>T (p.His142Tyr) c.354+70C>T (n.354+70C>T) | |
7 | g.27095489G>C | CA367068603 | HOXA1 | c.424C>G (p.His142Asp) c.354+70C>G (n.354+70C>G) | |
7 | g.27095489G>T | CA367068604 | HOXA1 | c.424C>A (p.His142Asn) c.354+70C>A (n.354+70C>A) | |
7 | g.27095490C>A | CA367068605 | HOXA1 | c.423G>T (p.Gln141His) c.354+69G>T (n.354+69G>T) | dbSNP |
7 | g.27095490C= | CA1696186940 | HOXA1 | c.423G= (p.Gln141=) c.354+69G= (n.354+69G=) | |
7 | g.27095490C>G | CA367068606 | HOXA1 | c.423G>C (p.Gln141His) c.354+69G>C (n.354+69G>C) | |
7 | g.27095490C>T | CA454507790 | HOXA1 | c.423G>A (p.Gln141=) c.354+69G>A (n.354+69G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.27095491T>A | CA367068607 | HOXA1 | c.422A>T (p.Gln141Leu) c.354+68A>T (n.354+68A>T) | |
7 | g.27095491T>C | CA4195944 | HOXA1 | c.422A>G (p.Gln141Arg) c.354+68A>G (n.354+68A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095491T>G | CA367068608 | HOXA1 | c.422A>C (p.Gln141Pro) c.354+68A>C (n.354+68A>C) | |
7 | g.27095491T= | CA1696186942 | HOXA1 | c.422A= (p.Gln141=) c.354+68A= (n.354+68A=) | |
7 | g.27095492G>A | CA367068609 | HOXA1 | c.421C>T (p.Gln141Ter) c.354+67C>T (n.354+67C>T) | |
7 | g.27095492G>C | CA367068610 | HOXA1 | c.421C>G (p.Gln141Glu) c.354+67C>G (n.354+67C>G) | |
7 | g.27095492G>T | CA367068611 | HOXA1 | c.421C>A (p.Gln141Lys) c.354+67C>A (n.354+67C>A) | |
7 | g.27095493G>A | CA454507797 | HOXA1 | c.420C>T (p.Val140=) c.354+66C>T (n.354+66C>T) | gnomAD v4 |
7 | g.27095493G>C | CA155900631 | HOXA1 | c.420C>G (p.Val140=) c.354+66C>G (n.354+66C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095493G= | CA1696186943 | HOXA1 | c.420C= (p.Val140=) c.354+66C= (n.354+66C=) | |
7 | g.27095493G>T | CA454507799 | HOXA1 | c.420C>A (p.Val140=) c.354+66C>A (n.354+66C>A) | |
7 | g.27095494A>C | CA367068612 | HOXA1 | c.419T>G (p.Val140Gly) c.354+65T>G (n.354+65T>G) | |
7 | g.27095494A>G | CA367068614 | HOXA1 | c.419T>C (p.Val140Ala) c.354+65T>C (n.354+65T>C) | gnomAD v4 |
7 | g.27095494A>T | CA367068613 | HOXA1 | c.419T>A (p.Val140Asp) c.354+65T>A (n.354+65T>A) | |
7 | g.27095495C>A | CA367068615 | HOXA1 | c.418G>T (p.Val140Phe) c.354+64G>T (n.354+64G>T) | |
7 | g.27095495C>G | CA367068616 | HOXA1 | c.418G>C (p.Val140Leu) c.354+64G>C (n.354+64G>C) | |
7 | g.27095495C>T | CA367068617 | HOXA1 | c.418G>A (p.Val140Ile) c.354+64G>A (n.354+64G>A) | |
7 | g.27095496C>A | CA4195945 | HOXA1 | c.417G>T (p.Met139Ile) c.354+63G>T (n.354+63G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095496C= | CA1696186945 | HOXA1 | c.417G= (p.Met139=) c.354+63G= (n.354+63G=) | |
7 | g.27095496C>G | CA367068618 | HOXA1 | c.417G>C (p.Met139Ile) c.354+63G>C (n.354+63G>C) | |
7 | g.27095496C>T | CA367068619 | HOXA1 | c.417G>A (p.Met139Ile) c.354+63G>A (n.354+63G>A) | |
7 | g.27095497A= | CA1696186947 | HOXA1 | c.416T= (p.Met139=) c.354+62T= (n.354+62T=) | |
7 | g.27095497A>C | CA367068620 | HOXA1 | c.416T>G (p.Met139Arg) c.354+62T>G (n.354+62T>G) | gnomAD v4 |
7 | g.27095497A>G | CA367068621 | HOXA1 | c.416T>C (p.Met139Thr) c.354+62T>C (n.354+62T>C) | dbSNP gnomAD v4 |
7 | g.27095497A>T | CA367068622 | HOXA1 | c.416T>A (p.Met139Lys) c.354+62T>A (n.354+62T>A) | |
7 | g.27095498T>A | CA367068623 | HOXA1 | c.415A>T (p.Met139Leu) c.354+61A>T (n.354+61A>T) | |
7 | g.27095498T>C | CA4195946 | HOXA1 | c.415A>G (p.Met139Val) c.354+61A>G (n.354+61A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095498T>G | CA367068624 | HOXA1 | c.415A>C (p.Met139Leu) c.354+61A>C (n.354+61A>C) | |
7 | g.27095498T= | CA1696186949 | HOXA1 | c.415A= (p.Met139=) c.354+61A= (n.354+61A=) | |
7 | g.27095499G>A | CA454507808 | HOXA1 | c.414C>T (p.Pro138=) c.354+60C>T (n.354+60C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095499G>C | CA454507810 | HOXA1 | c.414C>G (p.Pro138=) c.354+60C>G (n.354+60C>G) | |
7 | g.27095499G= | CA1696186951 | HOXA1 | c.414C= (p.Pro138=) c.354+60C= (n.354+60C=) | |
7 | g.27095499G>T | CA454507811 | HOXA1 | c.414C>A (p.Pro138=) c.354+60C>A (n.354+60C>A) | |
7 | g.27095500G>A | CA367068626 | HOXA1 | c.413C>T (p.Pro138Leu) c.354+59C>T (n.354+59C>T) | dbSNP gnomAD v4 COSMIC |
7 | g.27095500G>C | CA367068627 | HOXA1 | c.413C>G (p.Pro138Arg) c.354+59C>G (n.354+59C>G) | |
7 | g.27095500G= | CA1696186953 | HOXA1 | c.413C= (p.Pro138=) c.354+59C= (n.354+59C=) | |
7 | g.27095500G>T | CA367068625 | HOXA1 | c.413C>A (p.Pro138His) c.354+59C>A (n.354+59C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095501G>A | CA367068628 | HOXA1 | c.412C>T (p.Pro138Ser) c.354+58C>T (n.354+58C>T) | dbSNP gnomAD v4 COSMIC |
7 | g.27095501G>C | CA367068629 | HOXA1 | c.412C>G (p.Pro138Ala) c.354+58C>G (n.354+58C>G) | |
7 | g.27095501G>T | CA367068630 | HOXA1 | c.412C>A (p.Pro138Thr) c.354+58C>A (n.354+58C>A) | |
7 | g.27095502A>C | CA454507817 | HOXA1 | c.411T>G (p.Ser137=) c.354+57T>G (n.354+57T>G) | |
7 | g.27095502A>G | CA454507819 | HOXA1 | c.411T>C (p.Ser137=) c.354+57T>C (n.354+57T>C) | |
7 | g.27095502A>T | CA454507820 | HOXA1 | c.411T>A (p.Ser137=) c.354+57T>A (n.354+57T>A) | |
7 | g.27095503G>A | CA367068631 | HOXA1 | c.410C>T (p.Ser137Phe) c.354+56C>T (n.354+56C>T) | dbSNP |
7 | g.27095503G>C | CA367068632 | HOXA1 | c.410C>G (p.Ser137Cys) c.354+56C>G (n.354+56C>G) | |
7 | g.27095503G>T | CA367068633 | HOXA1 | c.410C>A (p.Ser137Tyr) c.354+56C>A (n.354+56C>A) | |
7 | g.27095504A= | CA1696186954 | HOXA1 | c.409T= (p.Ser137=) c.354+55T= (n.354+55T=) | |
7 | g.27095504A>C | CA367068634 | HOXA1 | c.409T>G (p.Ser137Ala) c.354+55T>G (n.354+55T>G) | |
7 | g.27095504A>G | CA4195947 | HOXA1 | c.409T>C (p.Ser137Pro) c.354+55T>C (n.354+55T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095504A>T | CA367068635 | HOXA1 | c.409T>A (p.Ser137Thr) c.354+55T>A (n.354+55T>A) | |
7 | g.27095505T>A | CA454507826 | HOXA1 | c.408A>T (p.Ser136=) c.354+54A>T (n.354+54A>T) | |
7 | g.27095505T>C | CA454507824 | HOXA1 | c.408A>G (p.Ser136=) c.354+54A>G (n.354+54A>G) | |
7 | g.27095505T>G | CA4195948 | HOXA1 | c.408A>C (p.Ser136=) c.354+54A>C (n.354+54A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095505T= | CA1696186956 | HOXA1 | c.408A= (p.Ser136=) c.354+54A= (n.354+54A=) | |
7 | g.27095506G>A | CA367068636 | HOXA1 | c.407C>T (p.Ser136Leu) c.354+53C>T (n.354+53C>T) | |
7 | g.27095506G>C | CA367068637 | HOXA1 | c.407C>G (p.Ser136Ter) c.354+53C>G (n.354+53C>G) | |
7 | g.27095506G>T | CA367068638 | HOXA1 | c.407C>A (p.Ser136Ter) c.354+53C>A (n.354+53C>A) | |
7 | g.27095507A= | CA1696186959 | HOXA1 | c.406T= (p.Ser136=) c.354+52T= (n.354+52T=) | |
7 | g.27095507A>C | CA367068639 | HOXA1 | c.406T>G (p.Ser136Ala) c.354+52T>G (n.354+52T>G) | |
7 | g.27095507A>G | CA367068641 | HOXA1 | c.406T>C (p.Ser136Pro) c.354+52T>C (n.354+52T>C) | |
7 | g.27095507A>T | CA367068640 | HOXA1 | c.406T>A (p.Ser136Thr) c.354+52T>A (n.354+52T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095508G>A | CA454507833 | HOXA1 | c.405C>T (p.Leu135=) c.354+51C>T (n.354+51C>T) | |
7 | g.27095508G>C | CA155900654 | HOXA1 | c.405C>G (p.Leu135=) c.354+51C>G (n.354+51C>G) | dbSNP COSMIC |
7 | g.27095508G= | CA1696186961 | HOXA1 | c.405C= (p.Leu135=) c.354+51C= (n.354+51C=) | |
7 | g.27095508G>T | CA454507838 | HOXA1 | c.405C>A (p.Leu135=) c.354+51C>A (n.354+51C>A) | dbSNP gnomAD v4 |
7 | g.27095509A>C | CA367068642 | HOXA1 | c.404T>G (p.Leu135Arg) c.354+50T>G (n.354+50T>G) | |
7 | g.27095509A>G | CA367068643 | HOXA1 | c.404T>C (p.Leu135Pro) c.354+50T>C (n.354+50T>C) | |
7 | g.27095509A>T | CA367068644 | HOXA1 | c.404T>A (p.Leu135His) c.354+50T>A (n.354+50T>A) | |
7 | g.27095510G>A | CA367068645 | HOXA1 | c.403C>T (p.Leu135Phe) c.354+49C>T (n.354+49C>T) | COSMIC |
7 | g.27095510G>C | CA367068646 | HOXA1 | c.403C>G (p.Leu135Val) c.354+49C>G (n.354+49C>G) | |
7 | g.27095510G>T | CA367068647 | HOXA1 | c.403C>A (p.Leu135Ile) c.354+49C>A (n.354+49C>A) | |
7 | g.27095511A= | CA1696186962 | HOXA1 | c.402T= (p.Asn134=) c.354+48T= (n.354+48T=) | |
7 | g.27095511A>C | CA367068648 | HOXA1 | c.402T>G (p.Asn134Lys) c.354+48T>G (n.354+48T>G) | |
7 | g.27095511A>G | CA4195949 | HOXA1 | c.402T>C (p.Asn134=) c.354+48T>C (n.354+48T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095511A>T | CA367068649 | HOXA1 | c.402T>A (p.Asn134Lys) c.354+48T>A (n.354+48T>A) | |
7 | g.27095512T>A | CA367068650 | HOXA1 | c.401A>T (p.Asn134Ile) c.354+47A>T (n.354+47A>T) | |
7 | g.27095512T>C | CA4195950 | HOXA1 | c.401A>G (p.Asn134Ser) c.354+47A>G (n.354+47A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095512T>G | CA367068651 | HOXA1 | c.401A>C (p.Asn134Thr) c.354+47A>C (n.354+47A>C) | |
7 | g.27095512T= | CA1696186964 | HOXA1 | c.401A= (p.Asn134=) c.354+47A= (n.354+47A=) | |
7 | g.27095513T>A | CA367068654 | HOXA1 | c.400A>T (p.Asn134Tyr) c.354+46A>T (n.354+46A>T) | |
7 | g.27095513T>C | CA367068653 | HOXA1 | c.400A>G (p.Asn134Asp) c.354+46A>G (n.354+46A>G) | dbSNP gnomAD v4 |
7 | g.27095513T>G | CA367068652 | HOXA1 | c.400A>C (p.Asn134His) c.354+46A>C (n.354+46A>C) | |
7 | g.27095513T= | CA1696186966 | HOXA1 | c.400A= (p.Asn134=) c.354+46A= (n.354+46A=) | |
7 | g.27095514T>A | CA454507865 | HOXA1 | c.399A>T (p.Gly133=) c.354+45A>T (n.354+45A>T) | |
7 | g.27095514T>C | CA454507866 | HOXA1 | c.399A>G (p.Gly133=) c.354+45A>G (n.354+45A>G) | |
7 | g.27095514T>G | CA454507868 | HOXA1 | c.399A>C (p.Gly133=) c.354+45A>C (n.354+45A>C) | |
7 | g.27095515C>A | CA367068655 | HOXA1 | c.398G>T (p.Gly133Val) c.354+44G>T (n.354+44G>T) | |
7 | g.27095515C>G | CA367068656 | HOXA1 | c.398G>C (p.Gly133Ala) c.354+44G>C (n.354+44G>C) | |
7 | g.27095515C>T | CA367068657 | HOXA1 | c.398G>A (p.Gly133Glu) c.354+44G>A (n.354+44G>A) | dbSNP COSMIC |
7 | g.27095516C>A | CA367068658 | HOXA1 | c.397G>T (p.Gly133Ter) c.354+43G>T (n.354+43G>T) | |
7 | g.27095516C>G | CA367068659 | HOXA1 | c.397G>C (p.Gly133Arg) c.354+43G>C (n.354+43G>C) | |
7 | g.27095516C>T | CA367068660 | HOXA1 | c.397G>A (p.Gly133Arg) c.354+43G>A (n.354+43G>A) | |
7 | g.27095517A>C | CA454507877 | HOXA1 | c.396T>G (p.Ser132=) c.354+42T>G (n.354+42T>G) | |
7 | g.27095517A>G | CA454507878 | HOXA1 | c.396T>C (p.Ser132=) c.354+42T>C (n.354+42T>C) | |
7 | g.27095517A>T | CA454507879 | HOXA1 | c.396T>A (p.Ser132=) c.354+42T>A (n.354+42T>A) | |
7 | g.27095518G>A | CA367068661 | HOXA1 | c.395C>T (p.Ser132Phe) c.354+41C>T (n.354+41C>T) | gnomAD v4 |
7 | g.27095518G>C | CA367068662 | HOXA1 | c.395C>G (p.Ser132Cys) c.354+41C>G (n.354+41C>G) | |
7 | g.27095518G>T | CA367068663 | HOXA1 | c.395C>A (p.Ser132Tyr) c.354+41C>A (n.354+41C>A) | |
7 | g.27095519A>C | CA367068664 | HOXA1 | c.394T>G (p.Ser132Ala) c.354+40T>G (n.354+40T>G) | |
7 | g.27095519A>G | CA367068665 | HOXA1 | c.394T>C (p.Ser132Pro) c.354+40T>C (n.354+40T>C) | |
7 | g.27095519A>T | CA367068666 | HOXA1 | c.394T>A (p.Ser132Thr) c.354+40T>A (n.354+40T>A) | |
7 | g.27095520G>A | CA454507892 | HOXA1 | c.393C>T (p.Tyr131=) c.354+39C>T (n.354+39C>T) | dbSNP |
7 | g.27095520G>C | CA367068667 | HOXA1 | c.393C>G (p.Tyr131Ter) c.354+39C>G (n.354+39C>G) | |
7 | g.27095520G>T | CA367068668 | HOXA1 | c.393C>A (p.Tyr131Ter) c.354+39C>A (n.354+39C>A) | |
7 | g.27095521T>A | CA367068670 | HOXA1 | c.392A>T (p.Tyr131Phe) c.354+38A>T (n.354+38A>T) | |
7 | g.27095521T>C | CA367068671 | HOXA1 | c.392A>G (p.Tyr131Cys) c.354+38A>G (n.354+38A>G) | gnomAD v4 |
7 | g.27095521T>G | CA367068669 | HOXA1 | c.392A>C (p.Tyr131Ser) c.354+38A>C (n.354+38A>C) | |
7 | g.27095522A>C | CA367068672 | HOXA1 | c.391T>G (p.Tyr131Asp) c.354+37T>G (n.354+37T>G) | |
7 | g.27095522A>G | CA367068673 | HOXA1 | c.391T>C (p.Tyr131His) c.354+37T>C (n.354+37T>C) | |
7 | g.27095522A>T | CA367068674 | HOXA1 | c.391T>A (p.Tyr131Asn) c.354+37T>A (n.354+37T>A) | |
7 | g.27095523A>C | CA454507899 | HOXA1 | c.390T>G (p.Val130=) c.354+36T>G (n.354+36T>G) | |
7 | g.27095523A>G | CA454507900 | HOXA1 | c.390T>C (p.Val130=) c.354+36T>C (n.354+36T>C) | |
7 | g.27095523A>T | CA454507902 | HOXA1 | c.390T>A (p.Val130=) c.354+36T>A (n.354+36T>A) | |
7 | g.27095524A>C | CA367068675 | HOXA1 | c.389T>G (p.Val130Gly) c.354+35T>G (n.354+35T>G) | |
7 | g.27095524A>G | CA367068676 | HOXA1 | c.389T>C (p.Val130Ala) c.354+35T>C (n.354+35T>C) | |
7 | g.27095524A>T | CA367068677 | HOXA1 | c.389T>A (p.Val130Asp) c.354+35T>A (n.354+35T>A) | |
7 | g.27095525C>A | CA367068678 | HOXA1 | c.388G>T (p.Val130Phe) c.354+34G>T (n.354+34G>T) | |
7 | g.27095525C>G | CA367068679 | HOXA1 | c.388G>C (p.Val130Leu) c.354+34G>C (n.354+34G>C) | |
7 | g.27095525C>T | CA367068680 | HOXA1 | c.388G>A (p.Val130Ile) c.354+34G>A (n.354+34G>A) | |
7 | g.27095526A>C | CA454507906 | HOXA1 | c.387T>G (p.Ala129=) c.354+33T>G (n.354+33T>G) | |
7 | g.27095526A>G | CA454507907 | HOXA1 | c.387T>C (p.Ala129=) c.354+33T>C (n.354+33T>C) | |
7 | g.27095526A>T | CA454507908 | HOXA1 | c.387T>A (p.Ala129=) c.354+33T>A (n.354+33T>A) | |
7 | g.27095527G>A | CA367068681 | HOXA1 | c.386C>T (p.Ala129Val) c.354+32C>T (n.354+32C>T) | |
7 | g.27095527G>C | CA367068682 | HOXA1 | c.386C>G (p.Ala129Gly) c.354+32C>G (n.354+32C>G) | |
7 | g.27095527G>T | CA367068683 | HOXA1 | c.386C>A (p.Ala129Asp) c.354+32C>A (n.354+32C>A) | |
7 | g.27095528C>A | CA4195951 | HOXA1 | c.385G>T (p.Ala129Ser) c.354+31G>T (n.354+31G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095528C= | CA1696186968 | HOXA1 | c.385G= (p.Ala129=) c.354+31G= (n.354+31G=) | |
7 | g.27095528C>G | CA367068684 | HOXA1 | c.385G>C (p.Ala129Pro) c.354+31G>C (n.354+31G>C) | |
7 | g.27095528C>T | CA367068685 | HOXA1 | c.385G>A (p.Ala129Thr) c.354+31G>A (n.354+31G>A) | gnomAD v4 |
7 | g.27095529G>A | CA454507910 | HOXA1 | c.384C>T (p.Pro128=) c.354+30C>T (n.354+30C>T) | dbSNP gnomAD v4 |
7 | g.27095529G>C | CA454507911 | HOXA1 | c.384C>G (p.Pro128=) c.354+30C>G (n.354+30C>G) | |
7 | g.27095529G>T | CA454507912 | HOXA1 | c.384C>A (p.Pro128=) c.354+30C>A (n.354+30C>A) | |
7 | g.27095530G>A | CA367068686 | HOXA1 | c.383C>T (p.Pro128Leu) c.354+29C>T (n.354+29C>T) | |
7 | g.27095530G>C | CA367068687 | HOXA1 | c.383C>G (p.Pro128Arg) c.354+29C>G (n.354+29C>G) | |
7 | g.27095530G>T | CA367068688 | HOXA1 | c.383C>A (p.Pro128His) c.354+29C>A (n.354+29C>A) | |
7 | g.27095531G>A | CA367068689 | HOXA1 | c.382C>T (p.Pro128Ser) c.354+28C>T (n.354+28C>T) | |
7 | g.27095531G>C | CA367068690 | HOXA1 | c.382C>G (p.Pro128Ala) c.354+28C>G (n.354+28C>G) | |
7 | g.27095531G>T | CA367068691 | HOXA1 | c.382C>A (p.Pro128Thr) c.354+28C>A (n.354+28C>A) | |
7 | g.27095532A>C | CA454507916 | HOXA1 | c.381T>G (p.Ala127=) c.354+27T>G (n.354+27T>G) | |
7 | g.27095532A>G | CA454507917 | HOXA1 | c.381T>C (p.Ala127=) c.354+27T>C (n.354+27T>C) | |
7 | g.27095532A>T | CA454507918 | HOXA1 | c.381T>A (p.Ala127=) c.354+27T>A (n.354+27T>A) | |
7 | g.27095533G>A | CA367068692 | HOXA1 | c.380C>T (p.Ala127Val) c.354+26C>T (n.354+26C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.27095533G>C | CA367068693 | HOXA1 | c.380C>G (p.Ala127Gly) c.354+26C>G (n.354+26C>G) | |
7 | g.27095533G= | CA1696186970 | HOXA1 | c.380C= (p.Ala127=) c.354+26C= (n.354+26C=) | |
7 | g.27095533G>T | CA367068694 | HOXA1 | c.380C>A (p.Ala127Asp) c.354+26C>A (n.354+26C>A) | gnomAD v4 |
7 | g.27095534C>A | CA367068695 | HOXA1 | c.379G>T (p.Ala127Ser) c.354+25G>T (n.354+25G>T) | |
7 | g.27095534C= | CA1696186973 | HOXA1 | c.379G= (p.Ala127=) c.354+25G= (n.354+25G=) | |
7 | g.27095534C>G | CA4195952 | HOXA1 | c.379G>C (p.Ala127Pro) c.354+25G>C (n.354+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095534C>T | CA367068696 | HOXA1 | c.379G>A (p.Ala127Thr) c.354+25G>A (n.354+25G>A) | dbSNP gnomAD v4 |
7 | g.27095535G>A | CA454507921 | HOXA1 | c.378C>T (p.Cys126=) c.354+24C>T (n.354+24C>T) | dbSNP gnomAD v4 COSMIC |
7 | g.27095535G>C | CA367068697 | HOXA1 | c.378C>G (p.Cys126Trp) c.354+24C>G (n.354+24C>G) | |
7 | g.27095535G= | CA1696186974 | HOXA1 | c.378C= (p.Cys126=) c.354+24C= (n.354+24C=) | |
7 | g.27095535G>T | CA367068698 | HOXA1 | c.378C>A (p.Cys126Ter) c.354+24C>A (n.354+24C>A) | |
7 | g.27095536C>A | CA367068699 | HOXA1 | c.377G>T (p.Cys126Phe) c.354+23G>T (n.354+23G>T) | COSMIC |
7 | g.27095536C= | CA1696186976 | HOXA1 | c.377G= (p.Cys126=) c.354+23G= (n.354+23G=) | |
7 | g.27095536C>G | CA367068701 | HOXA1 | c.377G>C (p.Cys126Ser) c.354+23G>C (n.354+23G>C) | |
7 | g.27095536C>T | CA367068700 | HOXA1 | c.377G>A (p.Cys126Tyr) c.354+23G>A (n.354+23G>A) | dbSNP gnomAD v4 |
7 | g.27095537A= | CA1696186978 | HOXA1 | c.376T= (p.Cys126=) c.354+22T= (n.354+22T=) | |
7 | g.27095537A>C | CA4195953 | HOXA1 | c.376T>G (p.Cys126Gly) c.354+22T>G (n.354+22T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.27095537A>G | CA367068703 | HOXA1 | c.376T>C (p.Cys126Arg) c.354+22T>C (n.354+22T>C) | |
7 | g.27095537A>T | CA367068702 | HOXA1 | c.376T>A (p.Cys126Ser) c.354+22T>A (n.354+22T>A) | |
7 | g.27095538C>A | CA367068704 | HOXA1 | c.375G>T (p.Gln125His) c.354+21G>T (n.354+21G>T) | |
7 | g.27095538C>G | CA367068705 | HOXA1 | c.375G>C (p.Gln125His) c.354+21G>C (n.354+21G>C) | |
7 | g.27095538C>T | CA454507535 | HOXA1 | c.375G>A (p.Gln125=) c.354+21G>A (n.354+21G>A) | gnomAD v4 |
7 | g.27095539T>A | CA367068706 | HOXA1 | c.374A>T (p.Gln125Leu) c.354+20A>T (n.354+20A>T) | |
7 | g.27095539T>C | CA367068707 | HOXA1 | c.374A>G (p.Gln125Arg) c.354+20A>G (n.354+20A>G) | |
7 | g.27095539T>G | CA367068708 | HOXA1 | c.374A>C (p.Gln125Pro) c.354+20A>C (n.354+20A>C) | |
7 | g.27095540G>A | CA367068709 | HOXA1 | c.373C>T (p.Gln125Ter) c.354+19C>T (n.354+19C>T) | gnomAD v4 |
7 | g.27095540G>C | CA367068710 | HOXA1 | c.373C>G (p.Gln125Glu) c.354+19C>G (n.354+19C>G) | dbSNP |
7 | g.27095540G= | CA1696186981 | HOXA1 | c.373C= (p.Gln125=) c.354+19C= (n.354+19C=) | |
7 | g.27095540G>T | CA367068711 | HOXA1 | c.373C>A (p.Gln125Lys) c.354+19C>A (n.354+19C>A) | |
7 | g.27095541G>A | CA4195955 | HOXA1 | c.372C>T (p.Pro124=) c.354+18C>T (n.354+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.27095541G>C | CA4195954 | HOXA1 | c.372C>G (p.Pro124=) c.354+18C>G (n.354+18C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.27095541G= | CA1696186984 | HOXA1 | c.372C= (p.Pro124=) c.354+18C= (n.354+18C=) | |
7 | g.27095541G>T | CA454507538 | HOXA1 | c.372C>A (p.Pro124=) c.354+18C>A (n.354+18C>A) | dbSNP |
7 | g.27095542G>A | CA367068712 | HOXA1 | c.371C>T (p.Pro124Leu) c.354+17C>T (n.354+17C>T) | COSMIC |
7 | g.27095542G>C | CA367068713 | HOXA1 | c.371C>G (p.Pro124Arg) c.354+17C>G (n.354+17C>G) | |
7 | g.27095542G>T | CA367068714 | HOXA1 | c.371C>A (p.Pro124His) c.354+17C>A (n.354+17C>A) | |
7 | g.27095543G>A | CA4195956 | HOXA1 | c.370C>T (p.Pro124Ser) c.354+16C>T (n.354+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.27095543G>C | CA367068716 | HOXA1 | c.370C>G (p.Pro124Ala) c.354+16C>G (n.354+16C>G) | |
7 | g.27095543G= | CA1696186988 | HOXA1 | c.370C= (p.Pro124=) c.354+16C= (n.354+16C=) | |
7 | g.27095543G>T | CA367068715 | HOXA1 | c.370C>A (p.Pro124Thr) c.354+16C>A (n.354+16C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095544G>A | CA4195957 | HOXA1 | c.369C>T (p.Tyr123=) c.354+15C>T (n.354+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.27095544G>C | CA367068717 | HOXA1 | c.369C>G (p.Tyr123Ter) c.354+15C>G (n.354+15C>G) | |
7 | g.27095544G= | CA1696186992 | HOXA1 | c.369C= (p.Tyr123=) c.354+15C= (n.354+15C=) | |
7 | g.27095544G>T | CA367068718 | HOXA1 | c.369C>A (p.Tyr123Ter) c.354+15C>A (n.354+15C>A) | |
7 | g.27095545T>A | CA367068719 | HOXA1 | c.368A>T (p.Tyr123Phe) c.354+14A>T (n.354+14A>T) | |
7 | g.27095545T>C | CA367068720 | HOXA1 | c.368A>G (p.Tyr123Cys) c.354+14A>G (n.354+14A>G) | |
7 | g.27095545T>G | CA367068721 | HOXA1 | c.368A>C (p.Tyr123Ser) c.354+14A>C (n.354+14A>C) | |
7 | g.27095546A>C | CA367068722 | HOXA1 | c.367T>G (p.Tyr123Asp) c.354+13T>G (n.354+13T>G) | |
7 | g.27095546A>G | CA367068723 | HOXA1 | c.367T>C (p.Tyr123His) c.354+13T>C (n.354+13T>C) | |
7 | g.27095546A>T | CA367068724 | HOXA1 | c.367T>A (p.Tyr123Asn) c.354+13T>A (n.354+13T>A) | |
7 | g.27095547C>A | CA454507541 | HOXA1 | c.366G>T (p.Gly122=) c.354+12G>T (n.354+12G>T) | |
7 | g.27095547C>G | CA454507542 | HOXA1 | c.366G>C (p.Gly122=) c.354+12G>C (n.354+12G>C) | |
7 | g.27095547C>T | CA454507543 | HOXA1 | c.366G>A (p.Gly122=) c.354+12G>A (n.354+12G>A) | |
7 | g.27095548C>A | CA367068726 | HOXA1 | c.365G>T (p.Gly122Val) c.354+11G>T (n.354+11G>T) | |
7 | g.27095548C= | CA1696186994 | HOXA1 | c.365G= (p.Gly122=) c.354+11G= (n.354+11G=) | |
7 | g.27095548C>G | CA367068727 | HOXA1 | c.365G>C (p.Gly122Ala) c.354+11G>C (n.354+11G>C) | |
7 | g.27095548C>T | CA367068725 | HOXA1 | c.365G>A (p.Gly122Glu) c.354+11G>A (n.354+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.27095549C>A | CA367068728 | HOXA1 | c.364G>T (p.Gly122Trp) c.354+10G>T (n.354+10G>T) | gnomAD v4 |
7 | g.27095549C= | CA1696186996 | HOXA1 | c.364G= (p.Gly122=) c.354+10G= (n.354+10G=) | |
7 | g.27095549C>G | CA155900711 | HOXA1 | c.364G>C (p.Gly122Arg) c.354+10G>C (n.354+10G>C) | dbSNP gnomAD v2 |
7 | g.27095549C>T | CA367068729 | HOXA1 | c.364G>A (p.Gly122Arg) c.354+10G>A (n.354+10G>A) | |
7 | g.27095550A>C | CA454507545 | HOXA1 | c.363T>G (p.Gly121=) c.354+9T>G (n.354+9T>G) | |
7 | g.27095550A>G | CA454507546 | HOXA1 | c.363T>C (p.Gly121=) c.354+9T>C (n.354+9T>C) | |
7 | g.27095550A>T | CA454507548 | HOXA1 | c.363T>A (p.Gly121=) c.354+9T>A (n.354+9T>A) | |
7 | g.27095551C>A | CA367068730 | HOXA1 | c.362G>T (p.Gly121Val) c.354+8G>T (n.354+8G>T) | |
7 | g.27095551C>G | CA367068731 | HOXA1 | c.362G>C (p.Gly121Ala) c.354+8G>C (n.354+8G>C) | |
7 | g.27095551C>T | CA367068732 | HOXA1 | c.362G>A (p.Gly121Asp) c.354+8G>A (n.354+8G>A) | gnomAD v4 |
7 | g.27095552C>A | CA367068733 | HOXA1 | c.361G>T (p.Gly121Cys) c.354+7G>T (n.354+7G>T) | |
7 | g.27095552C>G | CA367068734 | HOXA1 | c.361G>C (p.Gly121Arg) c.354+7G>C (n.354+7G>C) | |
7 | g.27095552C>T | CA367068735 | HOXA1 | c.361G>A (p.Gly121Ser) c.354+7G>A (n.354+7G>A) | |
7 | g.27095553A>C | CA367068736 | HOXA1 | c.360T>G (p.Ser120Arg) c.354+6T>G (n.354+6T>G) | |
7 | g.27095553A>G | CA454507549 | HOXA1 | c.360T>C (p.Ser120=) c.354+6T>C (n.354+6T>C) | gnomAD v4 |
7 | g.27095553A>T | CA367068737 | HOXA1 | c.360T>A (p.Ser120Arg) c.354+6T>A (n.354+6T>A) | |
7 | g.27095554C>A | CA367068740 | HOXA1 | c.359G>T (p.Ser120Ile) c.354+5G>T (n.354+5G>T) | |
7 | g.27095554C= | CA1696186999 | HOXA1 | c.359G= (p.Ser120=) c.354+5G= (n.354+5G=) | |
7 | g.27095554C>G | CA367068739 | HOXA1 | c.359G>C (p.Ser120Thr) c.354+5G>C (n.354+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.27095554C>T | CA367068738 | HOXA1 | c.359G>A (p.Ser120Asn) c.354+5G>A (n.354+5G>A) | |
7 | g.27095555T>A | CA367068741 | HOXA1 | c.358A>T (p.Ser120Cys) c.354+4A>T (n.354+4A>T) | |
7 | g.27095555T>C | CA367068742 | HOXA1 | c.358A>G (p.Ser120Gly) c.354+4A>G (n.354+4A>G) | |
7 | g.27095555T>G | CA367068743 | HOXA1 | c.358A>C (p.Ser120Arg) c.354+4A>C (n.354+4A>C) | |
7 | g.27095556T>A | CA454507555 | HOXA1 | c.357A>T (p.Val119=) c.354+3A>T (n.354+3A>T) | |
7 | g.27095556T>C | CA454507554 | HOXA1 | c.357A>G (p.Val119=) c.354+3A>G (n.354+3A>G) | gnomAD v4 |
7 | g.27095556T>G | CA454507553 | HOXA1 | c.357A>C (p.Val119=) c.354+3A>C (n.354+3A>C) | |
7 | g.27095556T= | CA1696187000 | HOXA1 | c.357A= (p.Val119=) c.354+3A= (n.354+3A=) | |
7 | g.27095557A>C | CA367068744 | HOXA1 | c.356T>G (p.Val119Gly) c.354+2T>G (n.354+2T>G) | |
7 | g.27095557A>G | CA367068745 | HOXA1 | c.356T>C (p.Val119Ala) c.354+2T>C (n.354+2T>C) | |
7 | g.27095557A>T | CA367068746 | HOXA1 | c.356T>A (p.Val119Glu) c.354+2T>A (n.354+2T>A) | COSMIC |
7 | g.27095557dup | CA4195958 | HOXA1 | c.356dup (p.Ser120LysfsTer?) c.354+2dup (n.354+2dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.27095558C>A | CA367068747 | HOXA1 | c.355G>T (p.Val119Leu) c.354+1G>T (n.354+1G>T) | |
7 | g.27095558C= | CA1696187003 | HOXA1 | c.355G= (p.Val119=) c.354+1G= (n.354+1G=) | |
7 | g.27095558C>G | CA367068748 | HOXA1 | c.355G>C (p.Val119Leu) c.354+1G>C (n.354+1G>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.27095558C>T | CA367068749 | HOXA1 | c.355G>A (p.Val119Ile) c.354+1G>A (n.354+1G>A) | dbSNP gnomAD v4 |
7 | g.27095559G>A | CA4195959 | HOXA1 | c.354C>T (p.Asp118=) | dbSNP ExAC gnomAD v4 |
7 | g.27095559G>C | CA367068750 | HOXA1 | c.354C>G (p.Asp118Glu) | |
7 | g.27095559G= | CA1696187005 | HOXA1 | c.354C= (p.Asp118=) | |
7 | g.27095559G>T | CA367068751 | HOXA1 | c.354C>A (p.Asp118Glu) |