| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAAT | CA645610833 | SALL4 | c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG | COSMIC |
| 20 | g.51784450dup | CA9911953 | SALL4 | c.2983dup (p.Val995GlyfsTer16) c.652dup (p.Val218GlyfsTer16) c.1672dup (p.Val558GlyfsTer16) c.2677dup (p.Val893GlyfsTer16) c.2857dup (p.Val953GlyfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784449_51784450dup | CA2816661507 | SALL4 | c.2982_2983dup (p.Val995GlyfsTer15) c.651_652dup (p.Val218GlyfsTer15) c.1671_1672dup (p.Val558GlyfsTer15) c.2676_2677dup (p.Val893GlyfsTer15) c.2856_2857dup (p.Val953GlyfsTer15) | |
| 20 | g.51784450del | CA9911954 | SALL4 | c.2983del (p.Val995PhefsTer14) c.652del (p.Val218PhefsTer14) c.1672del (p.Val558PhefsTer14) c.2677del (p.Val893PhefsTer14) c.2857del (p.Val953PhefsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784450C>A | CA9911957 | SALL4 | c.2977G>T (p.Gly993Trp) c.646G>T (p.Gly216Trp) c.1666G>T (p.Gly556Trp) c.2671G>T (p.Gly891Trp) c.2851G>T (p.Gly951Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784450C= | CA2369155284 | SALL4 | c.2977G= (p.Gly993=) c.646G= (p.Gly216=) c.1666G= (p.Gly556=) c.2671G= (p.Gly891=) c.2851G= (p.Gly951=) | |
| 20 | g.51784450C>G | CA9911958 | SALL4 | c.2977G>C (p.Gly993Arg) c.646G>C (p.Gly216Arg) c.1666G>C (p.Gly556Arg) c.2671G>C (p.Gly891Arg) c.2851G>C (p.Gly951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784450C>T | CA245393 | SALL4 | c.2977G>A (p.Gly993Arg) c.646G>A (p.Gly216Arg) c.1666G>A (p.Gly556Arg) c.2671G>A (p.Gly891Arg) c.2851G>A (p.Gly951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784451A= | CA2369155285 | SALL4 | c.2976T= (p.Ser992=) c.645T= (p.Ser215=) c.1665T= (p.Ser555=) c.2670T= (p.Ser890=) c.2850T= (p.Ser950=) | |
| 20 | g.51784451A>C | CA409005923 | SALL4 | c.2976T>G (p.Ser992Arg) c.645T>G (p.Ser215Arg) c.1665T>G (p.Ser555Arg) c.2670T>G (p.Ser890Arg) c.2850T>G (p.Ser950Arg) | dbSNP gnomAD v2 |
| 20 | g.51784451A>G | CA511025812 | SALL4 | c.2976T>C (p.Ser992=) c.645T>C (p.Ser215=) c.1665T>C (p.Ser555=) c.2670T>C (p.Ser890=) c.2850T>C (p.Ser950=) | COSMIC |
| 20 | g.51784451A>T | CA409005924 | SALL4 | c.2976T>A (p.Ser992Arg) c.645T>A (p.Ser215Arg) c.1665T>A (p.Ser555Arg) c.2670T>A (p.Ser890Arg) c.2850T>A (p.Ser950Arg) | |
| 20 | g.51784452C>A | CA409005925 | SALL4 | c.2975G>T (p.Ser992Ile) c.644G>T (p.Ser215Ile) c.1664G>T (p.Ser555Ile) c.2669G>T (p.Ser890Ile) c.2849G>T (p.Ser950Ile) | gnomAD v4 |
| 20 | g.51784452C>G | CA409005927 | SALL4 | c.2975G>C (p.Ser992Thr) c.644G>C (p.Ser215Thr) c.1664G>C (p.Ser555Thr) c.2669G>C (p.Ser890Thr) c.2849G>C (p.Ser950Thr) | |
| 20 | g.51784452C>T | CA409005926 | SALL4 | c.2975G>A (p.Ser992Asn) c.644G>A (p.Ser215Asn) c.1664G>A (p.Ser555Asn) c.2669G>A (p.Ser890Asn) c.2849G>A (p.Ser950Asn) | |
| 20 | g.51784453T>A | CA409005928 | SALL4 | c.2974A>T (p.Ser992Cys) c.643A>T (p.Ser215Cys) c.1663A>T (p.Ser555Cys) c.2668A>T (p.Ser890Cys) c.2848A>T (p.Ser950Cys) | |
| 20 | g.51784453T>C | CA9911959 | SALL4 | c.2974A>G (p.Ser992Gly) c.643A>G (p.Ser215Gly) c.1663A>G (p.Ser555Gly) c.2668A>G (p.Ser890Gly) c.2848A>G (p.Ser950Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784453T>G | CA409005929 | SALL4 | c.2974A>C (p.Ser992Arg) c.643A>C (p.Ser215Arg) c.1663A>C (p.Ser555Arg) c.2668A>C (p.Ser890Arg) c.2848A>C (p.Ser950Arg) | COSMIC |
| 20 | g.51784453T= | CA2369155286 | SALL4 | c.2974A= (p.Ser992=) c.643A= (p.Ser215=) c.1663A= (p.Ser555=) c.2668A= (p.Ser890=) c.2848A= (p.Ser950=) | |
| 20 | g.51784454C>A | CA409005930 | SALL4 | c.2973G>T (p.Gln991His) c.642G>T (p.Gln214His) c.1662G>T (p.Gln554His) c.2667G>T (p.Gln889His) c.2847G>T (p.Gln949His) | |
| 20 | g.51784454C= | CA2369155287 | SALL4 | c.2973G= (p.Gln991=) c.642G= (p.Gln214=) c.1662G= (p.Gln554=) c.2667G= (p.Gln889=) c.2847G= (p.Gln949=) | |
| 20 | g.51784454C>G | CA409005931 | SALL4 | c.2973G>C (p.Gln991His) c.642G>C (p.Gln214His) c.1662G>C (p.Gln554His) c.2667G>C (p.Gln889His) c.2847G>C (p.Gln949His) | |
| 20 | g.51784454C>T | CA511025817 | SALL4 | c.2973G>A (p.Gln991=) c.642G>A (p.Gln214=) c.1662G>A (p.Gln554=) c.2667G>A (p.Gln889=) c.2847G>A (p.Gln949=) | dbSNP |
| 20 | g.51784455T>A | CA409005932 | SALL4 | c.2972A>T (p.Gln991Leu) c.641A>T (p.Gln214Leu) c.1661A>T (p.Gln554Leu) c.2666A>T (p.Gln889Leu) c.2846A>T (p.Gln949Leu) | |
| 20 | g.51784455T>C | CA409005933 | SALL4 | c.2972A>G (p.Gln991Arg) c.641A>G (p.Gln214Arg) c.1661A>G (p.Gln554Arg) c.2666A>G (p.Gln889Arg) c.2846A>G (p.Gln949Arg) | |
| 20 | g.51784455T>G | CA409005934 | SALL4 | c.2972A>C (p.Gln991Pro) c.641A>C (p.Gln214Pro) c.1661A>C (p.Gln554Pro) c.2666A>C (p.Gln889Pro) c.2846A>C (p.Gln949Pro) | |
| 20 | g.51784456G>A | CA409005935 | SALL4 | c.2971C>T (p.Gln991Ter) c.640C>T (p.Gln214Ter) c.1660C>T (p.Gln554Ter) c.2665C>T (p.Gln889Ter) c.2845C>T (p.Gln949Ter) | |
| 20 | g.51784456G>C | CA409005936 | SALL4 | c.2971C>G (p.Gln991Glu) c.640C>G (p.Gln214Glu) c.1660C>G (p.Gln554Glu) c.2665C>G (p.Gln889Glu) c.2845C>G (p.Gln949Glu) | |
| 20 | g.51784456G>T | CA409005937 | SALL4 | c.2971C>A (p.Gln991Lys) c.640C>A (p.Gln214Lys) c.1660C>A (p.Gln554Lys) c.2665C>A (p.Gln889Lys) c.2845C>A (p.Gln949Lys) | |
| 20 | g.51784457G>A | CA511025823 | SALL4 | c.2970C>T (p.Ile990=) c.639C>T (p.Ile213=) c.1659C>T (p.Ile553=) c.2664C>T (p.Ile888=) c.2844C>T (p.Ile948=) | |
| 20 | g.51784457G>C | CA409005938 | SALL4 | c.2970C>G (p.Ile990Met) c.639C>G (p.Ile213Met) c.1659C>G (p.Ile553Met) c.2664C>G (p.Ile888Met) c.2844C>G (p.Ile948Met) | |
| 20 | g.51784457G>T | CA511025822 | SALL4 | c.2970C>A (p.Ile990=) c.639C>A (p.Ile213=) c.1659C>A (p.Ile553=) c.2664C>A (p.Ile888=) c.2844C>A (p.Ile948=) | gnomAD v4 |
| 20 | g.51784458A>C | CA409005941 | SALL4 | c.2969T>G (p.Ile990Ser) c.638T>G (p.Ile213Ser) c.1658T>G (p.Ile553Ser) c.2663T>G (p.Ile888Ser) c.2843T>G (p.Ile948Ser) | |
| 20 | g.51784458A>G | CA409005939 | SALL4 | c.2969T>C (p.Ile990Thr) c.638T>C (p.Ile213Thr) c.1658T>C (p.Ile553Thr) c.2663T>C (p.Ile888Thr) c.2843T>C (p.Ile948Thr) | |
| 20 | g.51784458A>T | CA409005940 | SALL4 | c.2969T>A (p.Ile990Asn) c.638T>A (p.Ile213Asn) c.1658T>A (p.Ile553Asn) c.2663T>A (p.Ile888Asn) c.2843T>A (p.Ile948Asn) | |
| 20 | g.51784459T>A | CA409005942 | SALL4 | c.2968A>T (p.Ile990Phe) c.637A>T (p.Ile213Phe) c.1657A>T (p.Ile553Phe) c.2662A>T (p.Ile888Phe) c.2842A>T (p.Ile948Phe) | |
| 20 | g.51784459T>C | CA409005943 | SALL4 | c.2968A>G (p.Ile990Val) c.637A>G (p.Ile213Val) c.1657A>G (p.Ile553Val) c.2662A>G (p.Ile888Val) c.2842A>G (p.Ile948Val) | gnomAD v4 |
| 20 | g.51784459T>G | CA409005944 | SALL4 | c.2968A>C (p.Ile990Leu) c.637A>C (p.Ile213Leu) c.1657A>C (p.Ile553Leu) c.2662A>C (p.Ile888Leu) c.2842A>C (p.Ile948Leu) | |
| 20 | g.51784460C>A | CA511025824 | SALL4 | c.2967G>T (p.Val989=) c.636G>T (p.Val212=) c.1656G>T (p.Val552=) c.2661G>T (p.Val887=) c.2841G>T (p.Val947=) | COSMIC |
| 20 | g.51784460C>G | CA511025825 | SALL4 | c.2967G>C (p.Val989=) c.636G>C (p.Val212=) c.1656G>C (p.Val552=) c.2661G>C (p.Val887=) c.2841G>C (p.Val947=) | |
| 20 | g.51784460C>T | CA511025826 | SALL4 | c.2967G>A (p.Val989=) c.636G>A (p.Val212=) c.1656G>A (p.Val552=) c.2661G>A (p.Val887=) c.2841G>A (p.Val947=) | gnomAD v4 |
| 20 | g.51784461A>C | CA409005945 | SALL4 | c.2966T>G (p.Val989Gly) c.635T>G (p.Val212Gly) c.1655T>G (p.Val552Gly) c.2660T>G (p.Val887Gly) c.2840T>G (p.Val947Gly) | |
| 20 | g.51784461A>G | CA409005946 | SALL4 | c.2966T>C (p.Val989Ala) c.635T>C (p.Val212Ala) c.1655T>C (p.Val552Ala) c.2660T>C (p.Val887Ala) c.2840T>C (p.Val947Ala) | |
| 20 | g.51784461A>T | CA409005947 | SALL4 | c.2966T>A (p.Val989Glu) c.635T>A (p.Val212Glu) c.1655T>A (p.Val552Glu) c.2660T>A (p.Val887Glu) c.2840T>A (p.Val947Glu) | |
| 20 | g.51784462C>A | CA409005948 | SALL4 | c.2965G>T (p.Val989Leu) c.634G>T (p.Val212Leu) c.1654G>T (p.Val552Leu) c.2659G>T (p.Val887Leu) c.2839G>T (p.Val947Leu) | |
| 20 | g.51784462C>G | CA409005949 | SALL4 | c.2965G>C (p.Val989Leu) c.634G>C (p.Val212Leu) c.1654G>C (p.Val552Leu) c.2659G>C (p.Val887Leu) c.2839G>C (p.Val947Leu) | |
| 20 | g.51784462C>T | CA409005950 | SALL4 | c.2965G>A (p.Val989Met) c.634G>A (p.Val212Met) c.1654G>A (p.Val552Met) c.2659G>A (p.Val887Met) c.2839G>A (p.Val947Met) | |
| 20 | g.51784463A>C | CA511025827 | SALL4 | c.2964T>G (p.Ser988=) c.633T>G (p.Ser211=) c.1653T>G (p.Ser551=) c.2658T>G (p.Ser886=) c.2838T>G (p.Ser946=) | |
| 20 | g.51784463A>G | CA511025828 | SALL4 | c.2964T>C (p.Ser988=) c.633T>C (p.Ser211=) c.1653T>C (p.Ser551=) c.2658T>C (p.Ser886=) c.2838T>C (p.Ser946=) | |
| 20 | g.51784463A>T | CA511025830 | SALL4 | c.2964T>A (p.Ser988=) c.633T>A (p.Ser211=) c.1653T>A (p.Ser551=) c.2658T>A (p.Ser886=) c.2838T>A (p.Ser946=) | |
| 20 | g.51784464G>A | CA409005951 | SALL4 | c.2963C>T (p.Ser988Phe) c.632C>T (p.Ser211Phe) c.1652C>T (p.Ser551Phe) c.2657C>T (p.Ser886Phe) c.2837C>T (p.Ser946Phe) | |
| 20 | g.51784464G>C | CA409005952 | SALL4 | c.2963C>G (p.Ser988Cys) c.632C>G (p.Ser211Cys) c.1652C>G (p.Ser551Cys) c.2657C>G (p.Ser886Cys) c.2837C>G (p.Ser946Cys) | |
| 20 | g.51784464G= | CA2369155288 | SALL4 | c.2963C= (p.Ser988=) c.632C= (p.Ser211=) c.1652C= (p.Ser551=) c.2657C= (p.Ser886=) c.2837C= (p.Ser946=) | |
| 20 | g.51784464G>T | CA9911960 | SALL4 | c.2963C>A (p.Ser988Tyr) c.632C>A (p.Ser211Tyr) c.1652C>A (p.Ser551Tyr) c.2657C>A (p.Ser886Tyr) c.2837C>A (p.Ser946Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784465A>C | CA409005954 | SALL4 | c.2962T>G (p.Ser988Ala) c.631T>G (p.Ser211Ala) c.1651T>G (p.Ser551Ala) c.2656T>G (p.Ser886Ala) c.2836T>G (p.Ser946Ala) | |
| 20 | g.51784465A>G | CA409005955 | SALL4 | c.2962T>C (p.Ser988Pro) c.631T>C (p.Ser211Pro) c.1651T>C (p.Ser551Pro) c.2656T>C (p.Ser886Pro) c.2836T>C (p.Ser946Pro) | |
| 20 | g.51784465A>T | CA409005953 | SALL4 | c.2962T>A (p.Ser988Thr) c.631T>A (p.Ser211Thr) c.1651T>A (p.Ser551Thr) c.2656T>A (p.Ser886Thr) c.2836T>A (p.Ser946Thr) | |
| 20 | g.51784466G>A | CA511025836 | SALL4 | c.2961C>T (p.Ile987=) c.630C>T (p.Ile210=) c.1650C>T (p.Ile550=) c.2655C>T (p.Ile885=) c.2835C>T (p.Ile945=) | |
| 20 | g.51784466G>C | CA409005956 | SALL4 | c.2961C>G (p.Ile987Met) c.630C>G (p.Ile210Met) c.1650C>G (p.Ile550Met) c.2655C>G (p.Ile885Met) c.2835C>G (p.Ile945Met) | gnomAD v4 |
| 20 | g.51784466G= | CA2369155289 | SALL4 | c.2961C= (p.Ile987=) c.630C= (p.Ile210=) c.1650C= (p.Ile550=) c.2655C= (p.Ile885=) c.2835C= (p.Ile945=) | |
| 20 | g.51784466G>T | CA511025837 | SALL4 | c.2961C>A (p.Ile987=) c.630C>A (p.Ile210=) c.1650C>A (p.Ile550=) c.2655C>A (p.Ile885=) c.2835C>A (p.Ile945=) | dbSNP |
| 20 | g.51784466_51784467insT | CA2816661508 | SALL4 | c.2960_2961insA (p.Ser988LeufsTer23) c.629_630insA (p.Ser211LeufsTer23) c.1649_1650insA (p.Ser551LeufsTer23) c.2654_2655insA (p.Ser886LeufsTer23) c.2834_2835insA (p.Ser946LeufsTer23) | |
| 20 | g.51784467A>C | CA409005957 | SALL4 | c.2960T>G (p.Ile987Ser) c.629T>G (p.Ile210Ser) c.1649T>G (p.Ile550Ser) c.2654T>G (p.Ile885Ser) c.2834T>G (p.Ile945Ser) | |
| 20 | g.51784467A>G | CA409005958 | SALL4 | c.2960T>C (p.Ile987Thr) c.629T>C (p.Ile210Thr) c.1649T>C (p.Ile550Thr) c.2654T>C (p.Ile885Thr) c.2834T>C (p.Ile945Thr) | |
| 20 | g.51784467A>T | CA409005959 | SALL4 | c.2960T>A (p.Ile987Asn) c.629T>A (p.Ile210Asn) c.1649T>A (p.Ile550Asn) c.2654T>A (p.Ile885Asn) c.2834T>A (p.Ile945Asn) | |
| 20 | g.51784468T>A | CA409005960 | SALL4 | c.2959A>T (p.Ile987Phe) c.628A>T (p.Ile210Phe) c.1648A>T (p.Ile550Phe) c.2653A>T (p.Ile885Phe) c.2833A>T (p.Ile945Phe) | |
| 20 | g.51784468T>C | CA409005961 | SALL4 | c.2959A>G (p.Ile987Val) c.628A>G (p.Ile210Val) c.1648A>G (p.Ile550Val) c.2653A>G (p.Ile885Val) c.2833A>G (p.Ile945Val) | |
| 20 | g.51784468T>G | CA409005962 | SALL4 | c.2959A>C (p.Ile987Leu) c.628A>C (p.Ile210Leu) c.1648A>C (p.Ile550Leu) c.2653A>C (p.Ile885Leu) c.2833A>C (p.Ile945Leu) | |
| 20 | g.51784469C>A | CA409005963 | SALL4 | c.2958G>T (p.Glu986Asp) c.627G>T (p.Glu209Asp) c.1647G>T (p.Glu549Asp) c.2652G>T (p.Glu884Asp) c.2832G>T (p.Glu944Asp) | dbSNP |
| 20 | g.51784469C= | CA2369155290 | SALL4 | c.2958G= (p.Glu986=) c.627G= (p.Glu209=) c.1647G= (p.Glu549=) c.2652G= (p.Glu884=) c.2832G= (p.Glu944=) | |
| 20 | g.51784469C>G | CA409005964 | SALL4 | c.2958G>C (p.Glu986Asp) c.627G>C (p.Glu209Asp) c.1647G>C (p.Glu549Asp) c.2652G>C (p.Glu884Asp) c.2832G>C (p.Glu944Asp) | |
| 20 | g.51784469C>T | CA511025839 | SALL4 | c.2958G>A (p.Glu986=) c.627G>A (p.Glu209=) c.1647G>A (p.Glu549=) c.2652G>A (p.Glu884=) c.2832G>A (p.Glu944=) | |
| 20 | g.51784470T>A | CA409005965 | SALL4 | c.2957A>T (p.Glu986Val) c.626A>T (p.Glu209Val) c.1646A>T (p.Glu549Val) c.2651A>T (p.Glu884Val) c.2831A>T (p.Glu944Val) | |
| 20 | g.51784470T>C | CA409005966 | SALL4 | c.2957A>G (p.Glu986Gly) c.626A>G (p.Glu209Gly) c.1646A>G (p.Glu549Gly) c.2651A>G (p.Glu884Gly) c.2831A>G (p.Glu944Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784470T>G | CA409005967 | SALL4 | c.2957A>C (p.Glu986Ala) c.626A>C (p.Glu209Ala) c.1646A>C (p.Glu549Ala) c.2651A>C (p.Glu884Ala) c.2831A>C (p.Glu944Ala) | |
| 20 | g.51784470T= | CA2369155291 | SALL4 | c.2957A= (p.Glu986=) c.626A= (p.Glu209=) c.1646A= (p.Glu549=) c.2651A= (p.Glu884=) c.2831A= (p.Glu944=) | |
| 20 | g.51784471C>A | CA409005968 | SALL4 | c.2956G>T (p.Glu986Ter) c.625G>T (p.Glu209Ter) c.1645G>T (p.Glu549Ter) c.2650G>T (p.Glu884Ter) c.2830G>T (p.Glu944Ter) | |
| 20 | g.51784471C= | CA2369155292 | SALL4 | c.2956G= (p.Glu986=) c.625G= (p.Glu209=) c.1645G= (p.Glu549=) c.2650G= (p.Glu884=) c.2830G= (p.Glu944=) | |
| 20 | g.51784471C>G | CA409005969 | SALL4 | c.2956G>C (p.Glu986Gln) c.625G>C (p.Glu209Gln) c.1645G>C (p.Glu549Gln) c.2650G>C (p.Glu884Gln) c.2830G>C (p.Glu944Gln) | |
| 20 | g.51784471C>T | CA9911961 | SALL4 | c.2956G>A (p.Glu986Lys) c.625G>A (p.Glu209Lys) c.1645G>A (p.Glu549Lys) c.2650G>A (p.Glu884Lys) c.2830G>A (p.Glu944Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784472A= | CA2369155293 | SALL4 | c.2955T= (p.Asn985=) c.624T= (p.Asn208=) c.1644T= (p.Asn548=) c.2649T= (p.Asn883=) c.2829T= (p.Asn943=) | |
| 20 | g.51784472A>C | CA409005970 | SALL4 | c.2955T>G (p.Asn985Lys) c.624T>G (p.Asn208Lys) c.1644T>G (p.Asn548Lys) c.2649T>G (p.Asn883Lys) c.2829T>G (p.Asn943Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784472A>G | CA511025845 | SALL4 | c.2955T>C (p.Asn985=) c.624T>C (p.Asn208=) c.1644T>C (p.Asn548=) c.2649T>C (p.Asn883=) c.2829T>C (p.Asn943=) | |
| 20 | g.51784472A>T | CA409005971 | SALL4 | c.2955T>A (p.Asn985Lys) c.624T>A (p.Asn208Lys) c.1644T>A (p.Asn548Lys) c.2649T>A (p.Asn883Lys) c.2829T>A (p.Asn943Lys) | |
| 20 | g.51784473T>A | CA409005972 | SALL4 | c.2954A>T (p.Asn985Ile) c.623A>T (p.Asn208Ile) c.1643A>T (p.Asn548Ile) c.2648A>T (p.Asn883Ile) c.2828A>T (p.Asn943Ile) | |
| 20 | g.51784473T>C | CA9911962 | SALL4 | c.2954A>G (p.Asn985Ser) c.623A>G (p.Asn208Ser) c.1643A>G (p.Asn548Ser) c.2648A>G (p.Asn883Ser) c.2828A>G (p.Asn943Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784473T>G | CA409005973 | SALL4 | c.2954A>C (p.Asn985Thr) c.623A>C (p.Asn208Thr) c.1643A>C (p.Asn548Thr) c.2648A>C (p.Asn883Thr) c.2828A>C (p.Asn943Thr) | |
| 20 | g.51784473T= | CA2369155294 | SALL4 | c.2954A= (p.Asn985=) c.623A= (p.Asn208=) c.1643A= (p.Asn548=) c.2648A= (p.Asn883=) c.2828A= (p.Asn943=) | |
| 20 | g.51784474T>A | CA409005974 | SALL4 | c.2953A>T (p.Asn985Tyr) c.622A>T (p.Asn208Tyr) c.1642A>T (p.Asn548Tyr) c.2647A>T (p.Asn883Tyr) c.2827A>T (p.Asn943Tyr) | |
| 20 | g.51784474T>C | CA409005975 | SALL4 | c.2953A>G (p.Asn985Asp) c.622A>G (p.Asn208Asp) c.1642A>G (p.Asn548Asp) c.2647A>G (p.Asn883Asp) c.2827A>G (p.Asn943Asp) | |
| 20 | g.51784474T>G | CA409005976 | SALL4 | c.2953A>C (p.Asn985His) c.622A>C (p.Asn208His) c.1642A>C (p.Asn548His) c.2647A>C (p.Asn883His) c.2827A>C (p.Asn943His) | |
| 20 | g.51784475G>A | CA511025851 | SALL4 | c.2952C>T (p.Thr984=) c.621C>T (p.Thr207=) c.1641C>T (p.Thr547=) c.2646C>T (p.Thr882=) c.2826C>T (p.Thr942=) | gnomAD v4 |
| 20 | g.51784475G>C | CA511025852 | SALL4 | c.2952C>G (p.Thr984=) c.621C>G (p.Thr207=) c.1641C>G (p.Thr547=) c.2646C>G (p.Thr882=) c.2826C>G (p.Thr942=) | |
| 20 | g.51784475G>T | CA511025853 | SALL4 | c.2952C>A (p.Thr984=) c.621C>A (p.Thr207=) c.1641C>A (p.Thr547=) c.2646C>A (p.Thr882=) c.2826C>A (p.Thr942=) | |
| 20 | g.51784476G>A | CA409005977 | SALL4 | c.2951C>T (p.Thr984Ile) c.620C>T (p.Thr207Ile) c.1640C>T (p.Thr547Ile) c.2645C>T (p.Thr882Ile) c.2825C>T (p.Thr942Ile) | |
| 20 | g.51784476G>C | CA409005978 | SALL4 | c.2951C>G (p.Thr984Ser) c.620C>G (p.Thr207Ser) c.1640C>G (p.Thr547Ser) c.2645C>G (p.Thr882Ser) c.2825C>G (p.Thr942Ser) | |
| 20 | g.51784476G>T | CA409005979 | SALL4 | c.2951C>A (p.Thr984Asn) c.620C>A (p.Thr207Asn) c.1640C>A (p.Thr547Asn) c.2645C>A (p.Thr882Asn) c.2825C>A (p.Thr942Asn) | |
| 20 | g.51784477T>A | CA409005980 | SALL4 | c.2950A>T (p.Thr984Ser) c.619A>T (p.Thr207Ser) c.1639A>T (p.Thr547Ser) c.2644A>T (p.Thr882Ser) c.2824A>T (p.Thr942Ser) | |
| 20 | g.51784477T>C | CA409005981 | SALL4 | c.2950A>G (p.Thr984Ala) c.619A>G (p.Thr207Ala) c.1639A>G (p.Thr547Ala) c.2644A>G (p.Thr882Ala) c.2824A>G (p.Thr942Ala) | |
| 20 | g.51784477T>G | CA409005982 | SALL4 | c.2950A>C (p.Thr984Pro) c.619A>C (p.Thr207Pro) c.1639A>C (p.Thr547Pro) c.2644A>C (p.Thr882Pro) c.2824A>C (p.Thr942Pro) | |
| 20 | g.51784478C>A | CA409005984 | SALL4 | c.2949G>T (p.Lys983Asn) c.618G>T (p.Lys206Asn) c.1638G>T (p.Lys546Asn) c.2643G>T (p.Lys881Asn) c.2823G>T (p.Lys941Asn) | |
| 20 | g.51784478C>G | CA409005983 | SALL4 | c.2949G>C (p.Lys983Asn) c.618G>C (p.Lys206Asn) c.1638G>C (p.Lys546Asn) c.2643G>C (p.Lys881Asn) c.2823G>C (p.Lys941Asn) | |
| 20 | g.51784478C>T | CA511025855 | SALL4 | c.2949G>A (p.Lys983=) c.618G>A (p.Lys206=) c.1638G>A (p.Lys546=) c.2643G>A (p.Lys881=) c.2823G>A (p.Lys941=) | |
| 20 | g.51784479T>A | CA409005985 | SALL4 | c.2948A>T (p.Lys983Met) c.617A>T (p.Lys206Met) c.1637A>T (p.Lys546Met) c.2642A>T (p.Lys881Met) c.2822A>T (p.Lys941Met) | |
| 20 | g.51784479T>C | CA409005986 | SALL4 | c.2948A>G (p.Lys983Arg) c.617A>G (p.Lys206Arg) c.1637A>G (p.Lys546Arg) c.2642A>G (p.Lys881Arg) c.2822A>G (p.Lys941Arg) | |
| 20 | g.51784479T>G | CA409005987 | SALL4 | c.2948A>C (p.Lys983Thr) c.617A>C (p.Lys206Thr) c.1637A>C (p.Lys546Thr) c.2642A>C (p.Lys881Thr) c.2822A>C (p.Lys941Thr) | |
| 20 | g.51784480T>A | CA409005988 | SALL4 | c.2947A>T (p.Lys983Ter) c.616A>T (p.Lys206Ter) c.1636A>T (p.Lys546Ter) c.2641A>T (p.Lys881Ter) c.2821A>T (p.Lys941Ter) | |
| 20 | g.51784480T>C | CA409005989 | SALL4 | c.2947A>G (p.Lys983Glu) c.616A>G (p.Lys206Glu) c.1636A>G (p.Lys546Glu) c.2641A>G (p.Lys881Glu) c.2821A>G (p.Lys941Glu) | |
| 20 | g.51784480T>G | CA409005990 | SALL4 | c.2947A>C (p.Lys983Gln) c.616A>C (p.Lys206Gln) c.1636A>C (p.Lys546Gln) c.2641A>C (p.Lys881Gln) c.2821A>C (p.Lys941Gln) | |
| 20 | g.51784481C>A | CA511025640 | SALL4 | c.2946G>T (p.Val982=) c.615G>T (p.Val205=) c.1635G>T (p.Val545=) c.2640G>T (p.Val880=) c.2820G>T (p.Val940=) | |
| 20 | g.51784481C= | CA2369155295 | SALL4 | c.2946G= (p.Val982=) c.615G= (p.Val205=) c.1635G= (p.Val545=) c.2640G= (p.Val880=) c.2820G= (p.Val940=) | |
| 20 | g.51784481C>G | CA511025641 | SALL4 | c.2946G>C (p.Val982=) c.615G>C (p.Val205=) c.1635G>C (p.Val545=) c.2640G>C (p.Val880=) c.2820G>C (p.Val940=) | |
| 20 | g.51784481C>T | CA511025642 | SALL4 | c.2946G>A (p.Val982=) c.615G>A (p.Val205=) c.1635G>A (p.Val545=) c.2640G>A (p.Val880=) c.2820G>A (p.Val940=) | dbSNP gnomAD v2 COSMIC |
| 20 | g.51784482A>C | CA409005991 | SALL4 | c.2945T>G (p.Val982Gly) c.614T>G (p.Val205Gly) c.1634T>G (p.Val545Gly) c.2639T>G (p.Val880Gly) c.2819T>G (p.Val940Gly) | |
| 20 | g.51784482A>G | CA409005992 | SALL4 | c.2945T>C (p.Val982Ala) c.614T>C (p.Val205Ala) c.1634T>C (p.Val545Ala) c.2639T>C (p.Val880Ala) c.2819T>C (p.Val940Ala) | |
| 20 | g.51784482A>T | CA409005993 | SALL4 | c.2945T>A (p.Val982Glu) c.614T>A (p.Val205Glu) c.1634T>A (p.Val545Glu) c.2639T>A (p.Val880Glu) c.2819T>A (p.Val940Glu) | |
| 20 | g.51784483C>A | CA409005994 | SALL4 | c.2944G>T (p.Val982Leu) c.613G>T (p.Val205Leu) c.1633G>T (p.Val545Leu) c.2638G>T (p.Val880Leu) c.2818G>T (p.Val940Leu) | gnomAD v4 |
| 20 | g.51784483C= | CA2369155296 | SALL4 | c.2944G= (p.Val982=) c.613G= (p.Val205=) c.1633G= (p.Val545=) c.2638G= (p.Val880=) c.2818G= (p.Val940=) | |
| 20 | g.51784483C>G | CA409005995 | SALL4 | c.2944G>C (p.Val982Leu) c.613G>C (p.Val205Leu) c.1633G>C (p.Val545Leu) c.2638G>C (p.Val880Leu) c.2818G>C (p.Val940Leu) | |
| 20 | g.51784483C>T | CA9911963 | SALL4 | c.2944G>A (p.Val982Met) c.613G>A (p.Val205Met) c.1633G>A (p.Val545Met) c.2638G>A (p.Val880Met) c.2818G>A (p.Val940Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784484G>A | CA9911964 | SALL4 | c.2943C>T (p.Ala981=) c.612C>T (p.Ala204=) c.1632C>T (p.Ala544=) c.2637C>T (p.Ala879=) c.2817C>T (p.Ala939=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784484G>C | CA511025644 | SALL4 | c.2943C>G (p.Ala981=) c.612C>G (p.Ala204=) c.1632C>G (p.Ala544=) c.2637C>G (p.Ala879=) c.2817C>G (p.Ala939=) | |
| 20 | g.51784484G= | CA2369155297 | SALL4 | c.2943C= (p.Ala981=) c.612C= (p.Ala204=) c.1632C= (p.Ala544=) c.2637C= (p.Ala879=) c.2817C= (p.Ala939=) | |
| 20 | g.51784484G>T | CA511025645 | SALL4 | c.2943C>A (p.Ala981=) c.612C>A (p.Ala204=) c.1632C>A (p.Ala544=) c.2637C>A (p.Ala879=) c.2817C>A (p.Ala939=) | |
| 20 | g.51784485G>A | CA409005997 | SALL4 | c.2942C>T (p.Ala981Val) c.611C>T (p.Ala204Val) c.1631C>T (p.Ala544Val) c.2636C>T (p.Ala879Val) c.2816C>T (p.Ala939Val) | |
| 20 | g.51784485G>C | CA409005998 | SALL4 | c.2942C>G (p.Ala981Gly) c.611C>G (p.Ala204Gly) c.1631C>G (p.Ala544Gly) c.2636C>G (p.Ala879Gly) c.2816C>G (p.Ala939Gly) | |
| 20 | g.51784485G>T | CA409005996 | SALL4 | c.2942C>A (p.Ala981Asp) c.611C>A (p.Ala204Asp) c.1631C>A (p.Ala544Asp) c.2636C>A (p.Ala879Asp) c.2816C>A (p.Ala939Asp) | COSMIC |
| 20 | g.51784486C>A | CA409005999 | SALL4 | c.2941G>T (p.Ala981Ser) c.610G>T (p.Ala204Ser) c.1630G>T (p.Ala544Ser) c.2635G>T (p.Ala879Ser) c.2815G>T (p.Ala939Ser) | |
| 20 | g.51784486C>G | CA409006000 | SALL4 | c.2941G>C (p.Ala981Pro) c.610G>C (p.Ala204Pro) c.1630G>C (p.Ala544Pro) c.2635G>C (p.Ala879Pro) c.2815G>C (p.Ala939Pro) | |
| 20 | g.51784486C>T | CA409006001 | SALL4 | c.2941G>A (p.Ala981Thr) c.610G>A (p.Ala204Thr) c.1630G>A (p.Ala544Thr) c.2635G>A (p.Ala879Thr) c.2815G>A (p.Ala939Thr) | |
| 20 | g.51784487C>A | CA511025646 | SALL4 | c.2940G>T (p.Leu980=) c.609G>T (p.Leu203=) c.1629G>T (p.Leu543=) c.2634G>T (p.Leu878=) c.2814G>T (p.Leu938=) | |
| 20 | g.51784487C>G | CA511025647 | SALL4 | c.2940G>C (p.Leu980=) c.609G>C (p.Leu203=) c.1629G>C (p.Leu543=) c.2634G>C (p.Leu878=) c.2814G>C (p.Leu938=) | |
| 20 | g.51784487C>T | CA511025648 | SALL4 | c.2940G>A (p.Leu980=) c.609G>A (p.Leu203=) c.1629G>A (p.Leu543=) c.2634G>A (p.Leu878=) c.2814G>A (p.Leu938=) | |
| 20 | g.51784488A>C | CA409006002 | SALL4 | c.2939T>G (p.Leu980Arg) c.608T>G (p.Leu203Arg) c.1628T>G (p.Leu543Arg) c.2633T>G (p.Leu878Arg) c.2813T>G (p.Leu938Arg) | |
| 20 | g.51784488A>G | CA409006003 | SALL4 | c.2939T>C (p.Leu980Pro) c.608T>C (p.Leu203Pro) c.1628T>C (p.Leu543Pro) c.2633T>C (p.Leu878Pro) c.2813T>C (p.Leu938Pro) | |
| 20 | g.51784488A>T | CA409006004 | SALL4 | c.2939T>A (p.Leu980Gln) c.608T>A (p.Leu203Gln) c.1628T>A (p.Leu543Gln) c.2633T>A (p.Leu878Gln) c.2813T>A (p.Leu938Gln) | |
| 20 | g.51784489G>A | CA511025652 | SALL4 | c.2938C>T (p.Leu980=) c.607C>T (p.Leu203=) c.1627C>T (p.Leu543=) c.2632C>T (p.Leu878=) c.2812C>T (p.Leu938=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784489G>C | CA409006006 | SALL4 | c.2938C>G (p.Leu980Val) c.607C>G (p.Leu203Val) c.1627C>G (p.Leu543Val) c.2632C>G (p.Leu878Val) c.2812C>G (p.Leu938Val) | |
| 20 | g.51784489G= | CA2369155298 | SALL4 | c.2938C= (p.Leu980=) c.607C= (p.Leu203=) c.1627C= (p.Leu543=) c.2632C= (p.Leu878=) c.2812C= (p.Leu938=) | |
| 20 | g.51784489G>T | CA409006005 | SALL4 | c.2938C>A (p.Leu980Met) c.607C>A (p.Leu203Met) c.1627C>A (p.Leu543Met) c.2632C>A (p.Leu878Met) c.2812C>A (p.Leu938Met) | |
| 20 | g.51784490A= | CA2369155299 | SALL4 | c.2937T= (p.Gly979=) c.606T= (p.Gly202=) c.1626T= (p.Gly542=) c.2631T= (p.Gly877=) c.2811T= (p.Gly937=) | |
| 20 | g.51784490A>C | CA511025653 | SALL4 | c.2937T>G (p.Gly979=) c.606T>G (p.Gly202=) c.1626T>G (p.Gly542=) c.2631T>G (p.Gly877=) c.2811T>G (p.Gly937=) | |
| 20 | g.51784490A>G | CA9911965 | SALL4 | c.2937T>C (p.Gly979=) c.606T>C (p.Gly202=) c.1626T>C (p.Gly542=) c.2631T>C (p.Gly877=) c.2811T>C (p.Gly937=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784490A>T | CA511025654 | SALL4 | c.2937T>A (p.Gly979=) c.606T>A (p.Gly202=) c.1626T>A (p.Gly542=) c.2631T>A (p.Gly877=) c.2811T>A (p.Gly937=) | |
| 20 | g.51784491C>A | CA409006007 | SALL4 | c.2936G>T (p.Gly979Val) c.605G>T (p.Gly202Val) c.1625G>T (p.Gly542Val) c.2630G>T (p.Gly877Val) c.2810G>T (p.Gly937Val) | dbSNP |
| 20 | g.51784491C= | CA2369155300 | SALL4 | c.2936G= (p.Gly979=) c.605G= (p.Gly202=) c.1625G= (p.Gly542=) c.2630G= (p.Gly877=) c.2810G= (p.Gly937=) | |
| 20 | g.51784491C>G | CA409006008 | SALL4 | c.2936G>C (p.Gly979Ala) c.605G>C (p.Gly202Ala) c.1625G>C (p.Gly542Ala) c.2630G>C (p.Gly877Ala) c.2810G>C (p.Gly937Ala) | |
| 20 | g.51784491C>T | CA409006009 | SALL4 | c.2936G>A (p.Gly979Asp) c.605G>A (p.Gly202Asp) c.1625G>A (p.Gly542Asp) c.2630G>A (p.Gly877Asp) c.2810G>A (p.Gly937Asp) | dbSNP gnomAD v4 COSMIC |
| 20 | g.51784492C>A | CA409006010 | SALL4 | c.2935G>T (p.Gly979Cys) c.604G>T (p.Gly202Cys) c.1624G>T (p.Gly542Cys) c.2629G>T (p.Gly877Cys) c.2809G>T (p.Gly937Cys) | dbSNP |
| 20 | g.51784492C= | CA2369155301 | SALL4 | c.2935G= (p.Gly979=) c.604G= (p.Gly202=) c.1624G= (p.Gly542=) c.2629G= (p.Gly877=) c.2809G= (p.Gly937=) | |
| 20 | g.51784492C>G | CA409006011 | SALL4 | c.2935G>C (p.Gly979Arg) c.604G>C (p.Gly202Arg) c.1624G>C (p.Gly542Arg) c.2629G>C (p.Gly877Arg) c.2809G>C (p.Gly937Arg) | |
| 20 | g.51784492C>T | CA9911966 | SALL4 | c.2935G>A (p.Gly979Ser) c.604G>A (p.Gly202Ser) c.1624G>A (p.Gly542Ser) c.2629G>A (p.Gly877Ser) c.2809G>A (p.Gly937Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784493del | CA2816661509 | SALL4 | c.2934del (p.Gly979ValfsTer4) c.603del (p.Gly202ValfsTer4) c.1623del (p.Gly542ValfsTer4) c.2628del (p.Gly877ValfsTer4) c.2808del (p.Gly937ValfsTer4) | |
| 20 | g.51784493G>A | CA9911967 | SALL4 | c.2934C>T (p.Gly978=) c.603C>T (p.Gly201=) c.1623C>T (p.Gly541=) c.2628C>T (p.Gly876=) c.2808C>T (p.Gly936=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784493G>C | CA511025657 | SALL4 | c.2934C>G (p.Gly978=) c.603C>G (p.Gly201=) c.1623C>G (p.Gly541=) c.2628C>G (p.Gly876=) c.2808C>G (p.Gly936=) | |
| 20 | g.51784493G= | CA2369155302 | SALL4 | c.2934C= (p.Gly978=) c.603C= (p.Gly201=) c.1623C= (p.Gly541=) c.2628C= (p.Gly876=) c.2808C= (p.Gly936=) | |
| 20 | g.51784493G>T | CA9911968 | SALL4 | c.2934C>A (p.Gly978=) c.603C>A (p.Gly201=) c.1623C>A (p.Gly541=) c.2628C>A (p.Gly876=) c.2808C>A (p.Gly936=) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784494C>A | CA409006012 | SALL4 | c.2933G>T (p.Gly978Val) c.602G>T (p.Gly201Val) c.1622G>T (p.Gly541Val) c.2627G>T (p.Gly876Val) c.2807G>T (p.Gly936Val) | |
| 20 | g.51784494C>G | CA409006014 | SALL4 | c.2933G>C (p.Gly978Ala) c.602G>C (p.Gly201Ala) c.1622G>C (p.Gly541Ala) c.2627G>C (p.Gly876Ala) c.2807G>C (p.Gly936Ala) | |
| 20 | g.51784494C>T | CA409006013 | SALL4 | c.2933G>A (p.Gly978Asp) c.602G>A (p.Gly201Asp) c.1622G>A (p.Gly541Asp) c.2627G>A (p.Gly876Asp) c.2807G>A (p.Gly936Asp) | |
| 20 | g.51784495C>A | CA409006015 | SALL4 | c.2932G>T (p.Gly978Cys) c.601G>T (p.Gly201Cys) c.1621G>T (p.Gly541Cys) c.2626G>T (p.Gly876Cys) c.2806G>T (p.Gly936Cys) | |
| 20 | g.51784495C= | CA2369155303 | SALL4 | c.2932G= (p.Gly978=) c.601G= (p.Gly201=) c.1621G= (p.Gly541=) c.2626G= (p.Gly876=) c.2806G= (p.Gly936=) | |
| 20 | g.51784495C>G | CA409006016 | SALL4 | c.2932G>C (p.Gly978Arg) c.601G>C (p.Gly201Arg) c.1621G>C (p.Gly541Arg) c.2626G>C (p.Gly876Arg) c.2806G>C (p.Gly936Arg) | |
| 20 | g.51784495C>T | CA10652629 | SALL4 | c.2932G>A (p.Gly978Ser) c.601G>A (p.Gly201Ser) c.1621G>A (p.Gly541Ser) c.2626G>A (p.Gly876Ser) c.2806G>A (p.Gly936Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784496A= | CA2369155304 | SALL4 | c.2931T= (p.Asn977=) c.600T= (p.Asn200=) c.1620T= (p.Asn540=) c.2625T= (p.Asn875=) c.2805T= (p.Asn935=) | |
| 20 | g.51784496A>C | CA409006017 | SALL4 | c.2931T>G (p.Asn977Lys) c.600T>G (p.Asn200Lys) c.1620T>G (p.Asn540Lys) c.2625T>G (p.Asn875Lys) c.2805T>G (p.Asn935Lys) | |
| 20 | g.51784496A>G | CA511025659 | SALL4 | c.2931T>C (p.Asn977=) c.600T>C (p.Asn200=) c.1620T>C (p.Asn540=) c.2625T>C (p.Asn875=) c.2805T>C (p.Asn935=) | dbSNP |
| 20 | g.51784496A>T | CA409006018 | SALL4 | c.2931T>A (p.Asn977Lys) c.600T>A (p.Asn200Lys) c.1620T>A (p.Asn540Lys) c.2625T>A (p.Asn875Lys) c.2805T>A (p.Asn935Lys) | |
| 20 | g.51784497T>A | CA409006019 | SALL4 | c.2930A>T (p.Asn977Ile) c.599A>T (p.Asn200Ile) c.1619A>T (p.Asn540Ile) c.2624A>T (p.Asn875Ile) c.2804A>T (p.Asn935Ile) | gnomAD v4 |
| 20 | g.51784497T>C | CA9911969 | SALL4 | c.2930A>G (p.Asn977Ser) c.599A>G (p.Asn200Ser) c.1619A>G (p.Asn540Ser) c.2624A>G (p.Asn875Ser) c.2804A>G (p.Asn935Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784497T>G | CA409006020 | SALL4 | c.2930A>C (p.Asn977Thr) c.599A>C (p.Asn200Thr) c.1619A>C (p.Asn540Thr) c.2624A>C (p.Asn875Thr) c.2804A>C (p.Asn935Thr) | |
| 20 | g.51784497T= | CA2369155305 | SALL4 | c.2930A= (p.Asn977=) c.599A= (p.Asn200=) c.1619A= (p.Asn540=) c.2624A= (p.Asn875=) c.2804A= (p.Asn935=) | |
| 20 | g.51784498T>A | CA409006021 | SALL4 | c.2929A>T (p.Asn977Tyr) c.598A>T (p.Asn200Tyr) c.1618A>T (p.Asn540Tyr) c.2623A>T (p.Asn875Tyr) c.2803A>T (p.Asn935Tyr) | |
| 20 | g.51784498T>C | CA409006022 | SALL4 | c.2929A>G (p.Asn977Asp) c.598A>G (p.Asn200Asp) c.1618A>G (p.Asn540Asp) c.2623A>G (p.Asn875Asp) c.2803A>G (p.Asn935Asp) | gnomAD v4 |
| 20 | g.51784498T>G | CA409006023 | SALL4 | c.2929A>C (p.Asn977His) c.598A>C (p.Asn200His) c.1618A>C (p.Asn540His) c.2623A>C (p.Asn875His) c.2803A>C (p.Asn935His) | gnomAD v4 |
| 20 | g.51784499G>A | CA511025665 | SALL4 | c.2928C>T (p.Leu976=) c.597C>T (p.Leu199=) c.1617C>T (p.Leu539=) c.2622C>T (p.Leu874=) c.2802C>T (p.Leu934=) | |
| 20 | g.51784499G>C | CA511025664 | SALL4 | c.2928C>G (p.Leu976=) c.597C>G (p.Leu199=) c.1617C>G (p.Leu539=) c.2622C>G (p.Leu874=) c.2802C>G (p.Leu934=) | |
| 20 | g.51784499G>T | CA511025662 | SALL4 | c.2928C>A (p.Leu976=) c.597C>A (p.Leu199=) c.1617C>A (p.Leu539=) c.2622C>A (p.Leu874=) c.2802C>A (p.Leu934=) | |
| 20 | g.51784500A>C | CA409006024 | SALL4 | c.2927T>G (p.Leu976Arg) c.596T>G (p.Leu199Arg) c.1616T>G (p.Leu539Arg) c.2621T>G (p.Leu874Arg) c.2801T>G (p.Leu934Arg) | |
| 20 | g.51784500A>G | CA409006025 | SALL4 | c.2927T>C (p.Leu976Pro) c.596T>C (p.Leu199Pro) c.1616T>C (p.Leu539Pro) c.2621T>C (p.Leu874Pro) c.2801T>C (p.Leu934Pro) | |
| 20 | g.51784500A>T | CA409006026 | SALL4 | c.2927T>A (p.Leu976His) c.596T>A (p.Leu199His) c.1616T>A (p.Leu539His) c.2621T>A (p.Leu874His) c.2801T>A (p.Leu934His) | |
| 20 | g.51784501G>A | CA409006027 | SALL4 | c.2926C>T (p.Leu976Phe) c.595C>T (p.Leu199Phe) c.1615C>T (p.Leu539Phe) c.2620C>T (p.Leu874Phe) c.2800C>T (p.Leu934Phe) | |
| 20 | g.51784501G>C | CA409006028 | SALL4 | c.2926C>G (p.Leu976Val) c.595C>G (p.Leu199Val) c.1615C>G (p.Leu539Val) c.2620C>G (p.Leu874Val) c.2800C>G (p.Leu934Val) | |
| 20 | g.51784501G>T | CA409006029 | SALL4 | c.2926C>A (p.Leu976Ile) c.595C>A (p.Leu199Ile) c.1615C>A (p.Leu539Ile) c.2620C>A (p.Leu874Ile) c.2800C>A (p.Leu934Ile) | |
| 20 | g.51784502C>A | CA409006030 | SALL4 | c.2925G>T (p.Met975Ile) c.594G>T (p.Met198Ile) c.1614G>T (p.Met538Ile) c.2619G>T (p.Met873Ile) c.2799G>T (p.Met933Ile) | |
| 20 | g.51784502C>G | CA409006031 | SALL4 | c.2925G>C (p.Met975Ile) c.594G>C (p.Met198Ile) c.1614G>C (p.Met538Ile) c.2619G>C (p.Met873Ile) c.2799G>C (p.Met933Ile) | |
| 20 | g.51784502C>T | CA409006032 | SALL4 | c.2925G>A (p.Met975Ile) c.594G>A (p.Met198Ile) c.1614G>A (p.Met538Ile) c.2619G>A (p.Met873Ile) c.2799G>A (p.Met933Ile) | |
| 20 | g.51784503A>C | CA409006035 | SALL4 | c.2924T>G (p.Met975Arg) c.593T>G (p.Met198Arg) c.1613T>G (p.Met538Arg) c.2618T>G (p.Met873Arg) c.2798T>G (p.Met933Arg) | |
| 20 | g.51784503A>G | CA409006033 | SALL4 | c.2924T>C (p.Met975Thr) c.593T>C (p.Met198Thr) c.1613T>C (p.Met538Thr) c.2618T>C (p.Met873Thr) c.2798T>C (p.Met933Thr) | gnomAD v4 |
| 20 | g.51784503A>T | CA409006034 | SALL4 | c.2924T>A (p.Met975Lys) c.593T>A (p.Met198Lys) c.1613T>A (p.Met538Lys) c.2618T>A (p.Met873Lys) c.2798T>A (p.Met933Lys) | |
| 20 | g.51784504T>A | CA409006036 | SALL4 | c.2923A>T (p.Met975Leu) c.592A>T (p.Met198Leu) c.1612A>T (p.Met538Leu) c.2617A>T (p.Met873Leu) c.2797A>T (p.Met933Leu) | |
| 20 | g.51784504T>C | CA409006037 | SALL4 | c.2923A>G (p.Met975Val) c.592A>G (p.Met198Val) c.1612A>G (p.Met538Val) c.2617A>G (p.Met873Val) c.2797A>G (p.Met933Val) | |
| 20 | g.51784504T>G | CA409006038 | SALL4 | c.2923A>C (p.Met975Leu) c.592A>C (p.Met198Leu) c.1612A>C (p.Met538Leu) c.2617A>C (p.Met873Leu) c.2797A>C (p.Met933Leu) | |
| 20 | g.51784505G>A | CA511025670 | SALL4 | c.2922C>T (p.Ser974=) c.591C>T (p.Ser197=) c.1611C>T (p.Ser537=) c.2616C>T (p.Ser872=) c.2796C>T (p.Ser932=) | gnomAD v4 |
| 20 | g.51784505G>C | CA409006039 | SALL4 | c.2922C>G (p.Ser974Arg) c.591C>G (p.Ser197Arg) c.1611C>G (p.Ser537Arg) c.2616C>G (p.Ser872Arg) c.2796C>G (p.Ser932Arg) | |
| 20 | g.51784505G>T | CA409006040 | SALL4 | c.2922C>A (p.Ser974Arg) c.591C>A (p.Ser197Arg) c.1611C>A (p.Ser537Arg) c.2616C>A (p.Ser872Arg) c.2796C>A (p.Ser932Arg) | |
| 20 | g.51784506C>A | CA409006041 | SALL4 | c.2921G>T (p.Ser974Ile) c.590G>T (p.Ser197Ile) c.1610G>T (p.Ser537Ile) c.2615G>T (p.Ser872Ile) c.2795G>T (p.Ser932Ile) | |
| 20 | g.51784506C= | CA2369155306 | SALL4 | c.2921G= (p.Ser974=) c.590G= (p.Ser197=) c.1610G= (p.Ser537=) c.2615G= (p.Ser872=) c.2795G= (p.Ser932=) | |
| 20 | g.51784506C>G | CA409006042 | SALL4 | c.2921G>C (p.Ser974Thr) c.590G>C (p.Ser197Thr) c.1610G>C (p.Ser537Thr) c.2615G>C (p.Ser872Thr) c.2795G>C (p.Ser932Thr) | dbSNP |
| 20 | g.51784506C>T | CA9911970 | SALL4 | c.2921G>A (p.Ser974Asn) c.590G>A (p.Ser197Asn) c.1610G>A (p.Ser537Asn) c.2615G>A (p.Ser872Asn) c.2795G>A (p.Ser932Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784507T>A | CA409006043 | SALL4 | c.2920A>T (p.Ser974Cys) c.589A>T (p.Ser197Cys) c.1609A>T (p.Ser537Cys) c.2614A>T (p.Ser872Cys) c.2794A>T (p.Ser932Cys) | gnomAD v4 |
| 20 | g.51784507T>C | CA409006044 | SALL4 | c.2920A>G (p.Ser974Gly) c.589A>G (p.Ser197Gly) c.1609A>G (p.Ser537Gly) c.2614A>G (p.Ser872Gly) c.2794A>G (p.Ser932Gly) | |
| 20 | g.51784507T>G | CA409006045 | SALL4 | c.2920A>C (p.Ser974Arg) c.589A>C (p.Ser197Arg) c.1609A>C (p.Ser537Arg) c.2614A>C (p.Ser872Arg) c.2794A>C (p.Ser932Arg) | |
| 20 | g.51784508G>A | CA315366072 | SALL4 | c.2919C>T (p.Thr973=) c.588C>T (p.Thr196=) c.1608C>T (p.Thr536=) c.2613C>T (p.Thr871=) c.2793C>T (p.Thr931=) | dbSNP gnomAD v4 |
| 20 | g.51784508G>C | CA511025672 | SALL4 | c.2919C>G (p.Thr973=) c.588C>G (p.Thr196=) c.1608C>G (p.Thr536=) c.2613C>G (p.Thr871=) c.2793C>G (p.Thr931=) | |
| 20 | g.51784508G= | CA2369155307 | SALL4 | c.2919C= (p.Thr973=) c.588C= (p.Thr196=) c.1608C= (p.Thr536=) c.2613C= (p.Thr871=) c.2793C= (p.Thr931=) | |
| 20 | g.51784508G>T | CA511025673 | SALL4 | c.2919C>A (p.Thr973=) c.588C>A (p.Thr196=) c.1608C>A (p.Thr536=) c.2613C>A (p.Thr871=) c.2793C>A (p.Thr931=) | |
| 20 | g.51784509G>A | CA409006048 | SALL4 | c.2918C>T (p.Thr973Ile) c.587C>T (p.Thr196Ile) c.1607C>T (p.Thr536Ile) c.2612C>T (p.Thr871Ile) c.2792C>T (p.Thr931Ile) | COSMIC |
| 20 | g.51784509G>C | CA409006047 | SALL4 | c.2918C>G (p.Thr973Ser) c.587C>G (p.Thr196Ser) c.1607C>G (p.Thr536Ser) c.2612C>G (p.Thr871Ser) c.2792C>G (p.Thr931Ser) | |
| 20 | g.51784509G>T | CA409006046 | SALL4 | c.2918C>A (p.Thr973Asn) c.587C>A (p.Thr196Asn) c.1607C>A (p.Thr536Asn) c.2612C>A (p.Thr871Asn) c.2792C>A (p.Thr931Asn) | |
| 20 | g.51784510T>A | CA409006051 | SALL4 | c.2917A>T (p.Thr973Ser) c.586A>T (p.Thr196Ser) c.1606A>T (p.Thr536Ser) c.2611A>T (p.Thr871Ser) c.2791A>T (p.Thr931Ser) | |
| 20 | g.51784510T>C | CA409006049 | SALL4 | c.2917A>G (p.Thr973Ala) c.586A>G (p.Thr196Ala) c.1606A>G (p.Thr536Ala) c.2611A>G (p.Thr871Ala) c.2791A>G (p.Thr931Ala) | |
| 20 | g.51784510T>G | CA409006050 | SALL4 | c.2917A>C (p.Thr973Pro) c.586A>C (p.Thr196Pro) c.1606A>C (p.Thr536Pro) c.2611A>C (p.Thr871Pro) c.2791A>C (p.Thr931Pro) | |
| 20 | g.51784511G>A | CA9911971 | SALL4 | c.2916C>T (p.Tyr972=) c.585C>T (p.Tyr195=) c.1605C>T (p.Tyr535=) c.2610C>T (p.Tyr870=) c.2790C>T (p.Tyr930=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784511G>C | CA409006052 | SALL4 | c.2916C>G (p.Tyr972Ter) c.585C>G (p.Tyr195Ter) c.1605C>G (p.Tyr535Ter) c.2610C>G (p.Tyr870Ter) c.2790C>G (p.Tyr930Ter) | gnomAD v4 |
| 20 | g.51784511G= | CA2369155308 | SALL4 | c.2916C= (p.Tyr972=) c.585C= (p.Tyr195=) c.1605C= (p.Tyr535=) c.2610C= (p.Tyr870=) c.2790C= (p.Tyr930=) | |
| 20 | g.51784511G>T | CA409006053 | SALL4 | c.2916C>A (p.Tyr972Ter) c.585C>A (p.Tyr195Ter) c.1605C>A (p.Tyr535Ter) c.2610C>A (p.Tyr870Ter) c.2790C>A (p.Tyr930Ter) | |
| 20 | g.51784512T>A | CA409006056 | SALL4 | c.2915A>T (p.Tyr972Phe) c.584A>T (p.Tyr195Phe) c.1604A>T (p.Tyr535Phe) c.2609A>T (p.Tyr870Phe) c.2789A>T (p.Tyr930Phe) | |
| 20 | g.51784512T>C | CA409006055 | SALL4 | c.2915A>G (p.Tyr972Cys) c.584A>G (p.Tyr195Cys) c.1604A>G (p.Tyr535Cys) c.2609A>G (p.Tyr870Cys) c.2789A>G (p.Tyr930Cys) | gnomAD v4 |
| 20 | g.51784512T>G | CA409006054 | SALL4 | c.2915A>C (p.Tyr972Ser) c.584A>C (p.Tyr195Ser) c.1604A>C (p.Tyr535Ser) c.2609A>C (p.Tyr870Ser) c.2789A>C (p.Tyr930Ser) | |
| 20 | g.51784513A>C | CA409006057 | SALL4 | c.2914T>G (p.Tyr972Asp) c.583T>G (p.Tyr195Asp) c.1603T>G (p.Tyr535Asp) c.2608T>G (p.Tyr870Asp) c.2788T>G (p.Tyr930Asp) | |
| 20 | g.51784513A>G | CA409006058 | SALL4 | c.2914T>C (p.Tyr972His) c.583T>C (p.Tyr195His) c.1603T>C (p.Tyr535His) c.2608T>C (p.Tyr870His) c.2788T>C (p.Tyr930His) | |
| 20 | g.51784513A>T | CA409006059 | SALL4 | c.2914T>A (p.Tyr972Asn) c.583T>A (p.Tyr195Asn) c.1603T>A (p.Tyr535Asn) c.2608T>A (p.Tyr870Asn) c.2788T>A (p.Tyr930Asn) | |
| 20 | g.51784514C>A | CA409006060 | SALL4 | c.2913G>T (p.Gln971His) c.582G>T (p.Gln194His) c.1602G>T (p.Gln534His) c.2607G>T (p.Gln869His) c.2787G>T (p.Gln929His) | |
| 20 | g.51784514C= | CA2369155309 | SALL4 | c.2913G= (p.Gln971=) c.582G= (p.Gln194=) c.1602G= (p.Gln534=) c.2607G= (p.Gln869=) c.2787G= (p.Gln929=) | |
| 20 | g.51784514C>G | CA409006061 | SALL4 | c.2913G>C (p.Gln971His) c.582G>C (p.Gln194His) c.1602G>C (p.Gln534His) c.2607G>C (p.Gln869His) c.2787G>C (p.Gln929His) | |
| 20 | g.51784514C>T | CA9911972 | SALL4 | c.2913G>A (p.Gln971=) c.582G>A (p.Gln194=) c.1602G>A (p.Gln534=) c.2607G>A (p.Gln869=) c.2787G>A (p.Gln929=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784515T>A | CA409006062 | SALL4 | c.2912A>T (p.Gln971Leu) c.581A>T (p.Gln194Leu) c.1601A>T (p.Gln534Leu) c.2606A>T (p.Gln869Leu) c.2786A>T (p.Gln929Leu) | |
| 20 | g.51784515T>C | CA409006064 | SALL4 | c.2912A>G (p.Gln971Arg) c.581A>G (p.Gln194Arg) c.1601A>G (p.Gln534Arg) c.2606A>G (p.Gln869Arg) c.2786A>G (p.Gln929Arg) | gnomAD v4 |
| 20 | g.51784515T>G | CA409006063 | SALL4 | c.2912A>C (p.Gln971Pro) c.581A>C (p.Gln194Pro) c.1601A>C (p.Gln534Pro) c.2606A>C (p.Gln869Pro) c.2786A>C (p.Gln929Pro) | |
| 20 | g.51784516G>A | CA409006065 | SALL4 | c.2911C>T (p.Gln971Ter) c.580C>T (p.Gln194Ter) c.1600C>T (p.Gln534Ter) c.2605C>T (p.Gln869Ter) c.2785C>T (p.Gln929Ter) | |
| 20 | g.51784516G>C | CA409006067 | SALL4 | c.2911C>G (p.Gln971Glu) c.580C>G (p.Gln194Glu) c.1600C>G (p.Gln534Glu) c.2605C>G (p.Gln869Glu) c.2785C>G (p.Gln929Glu) | |
| 20 | g.51784516G>T | CA409006068 | SALL4 | c.2911C>A (p.Gln971Lys) c.580C>A (p.Gln194Lys) c.1600C>A (p.Gln534Lys) c.2605C>A (p.Gln869Lys) c.2785C>A (p.Gln929Lys) | |
| 20 | g.51784517G>A | CA511025685 | SALL4 | c.2910C>T (p.Asn970=) c.579C>T (p.Asn193=) c.1599C>T (p.Asn533=) c.2604C>T (p.Asn868=) c.2784C>T (p.Asn928=) | dbSNP |
| 20 | g.51784517G>C | CA409006069 | SALL4 | c.2910C>G (p.Asn970Lys) c.579C>G (p.Asn193Lys) c.1599C>G (p.Asn533Lys) c.2604C>G (p.Asn868Lys) c.2784C>G (p.Asn928Lys) | |
| 20 | g.51784517G= | CA2369155310 | SALL4 | c.2910C= (p.Asn970=) c.579C= (p.Asn193=) c.1599C= (p.Asn533=) c.2604C= (p.Asn868=) c.2784C= (p.Asn928=) | |
| 20 | g.51784517G>T | CA409006070 | SALL4 | c.2910C>A (p.Asn970Lys) c.579C>A (p.Asn193Lys) c.1599C>A (p.Asn533Lys) c.2604C>A (p.Asn868Lys) c.2784C>A (p.Asn928Lys) | |
| 20 | g.51784518T>A | CA409006071 | SALL4 | c.2909A>T (p.Asn970Ile) c.578A>T (p.Asn193Ile) c.1598A>T (p.Asn533Ile) c.2603A>T (p.Asn868Ile) c.2783A>T (p.Asn928Ile) | |
| 20 | g.51784518T>C | CA409006072 | SALL4 | c.2909A>G (p.Asn970Ser) c.578A>G (p.Asn193Ser) c.1598A>G (p.Asn533Ser) c.2603A>G (p.Asn868Ser) c.2783A>G (p.Asn928Ser) | |
| 20 | g.51784518T>G | CA409006073 | SALL4 | c.2909A>C (p.Asn970Thr) c.578A>C (p.Asn193Thr) c.1598A>C (p.Asn533Thr) c.2603A>C (p.Asn868Thr) c.2783A>C (p.Asn928Thr) | |
| 20 | g.51784519T>A | CA409006074 | SALL4 | c.2908A>T (p.Asn970Tyr) c.577A>T (p.Asn193Tyr) c.1597A>T (p.Asn533Tyr) c.2602A>T (p.Asn868Tyr) c.2782A>T (p.Asn928Tyr) | |
| 20 | g.51784519T>C | CA409006075 | SALL4 | c.2908A>G (p.Asn970Asp) c.577A>G (p.Asn193Asp) c.1597A>G (p.Asn533Asp) c.2602A>G (p.Asn868Asp) c.2782A>G (p.Asn928Asp) | |
| 20 | g.51784519T>G | CA409006076 | SALL4 | c.2908A>C (p.Asn970His) c.577A>C (p.Asn193His) c.1597A>C (p.Asn533His) c.2602A>C (p.Asn868His) c.2782A>C (p.Asn928His) | dbSNP |
| 20 | g.51784519T= | CA2369155311 | SALL4 | c.2908A= (p.Asn970=) c.577A= (p.Asn193=) c.1597A= (p.Asn533=) c.2602A= (p.Asn868=) c.2782A= (p.Asn928=) | |
| 20 | g.51784520C>A | CA409006079 | SALL4 | c.2907G>T (p.Trp969Cys) c.576G>T (p.Trp192Cys) c.1596G>T (p.Trp532Cys) c.2601G>T (p.Trp867Cys) c.2781G>T (p.Trp927Cys) | COSMIC |
| 20 | g.51784520C>G | CA409006078 | SALL4 | c.2907G>C (p.Trp969Cys) c.576G>C (p.Trp192Cys) c.1596G>C (p.Trp532Cys) c.2601G>C (p.Trp867Cys) c.2781G>C (p.Trp927Cys) | |
| 20 | g.51784520C>T | CA409006077 | SALL4 | c.2907G>A (p.Trp969Ter) c.576G>A (p.Trp192Ter) c.1596G>A (p.Trp532Ter) c.2601G>A (p.Trp867Ter) c.2781G>A (p.Trp927Ter) | |
| 20 | g.51784521C>A | CA409006080 | SALL4 | c.2906G>T (p.Trp969Leu) c.575G>T (p.Trp192Leu) c.1595G>T (p.Trp532Leu) c.2600G>T (p.Trp867Leu) c.2780G>T (p.Trp927Leu) | |
| 20 | g.51784521C>G | CA409006082 | SALL4 | c.2906G>C (p.Trp969Ser) c.575G>C (p.Trp192Ser) c.1595G>C (p.Trp532Ser) c.2600G>C (p.Trp867Ser) c.2780G>C (p.Trp927Ser) | |
| 20 | g.51784521C>T | CA409006081 | SALL4 | c.2906G>A (p.Trp969Ter) c.575G>A (p.Trp192Ter) c.1595G>A (p.Trp532Ter) c.2600G>A (p.Trp867Ter) c.2780G>A (p.Trp927Ter) | |
| 20 | g.51784522A>C | CA409006083 | SALL4 | c.2905T>G (p.Trp969Gly) c.574T>G (p.Trp192Gly) c.1594T>G (p.Trp532Gly) c.2599T>G (p.Trp867Gly) c.2779T>G (p.Trp927Gly) | |
| 20 | g.51784522A>G | CA409006084 | SALL4 | c.2905T>C (p.Trp969Arg) c.574T>C (p.Trp192Arg) c.1594T>C (p.Trp532Arg) c.2599T>C (p.Trp867Arg) c.2779T>C (p.Trp927Arg) | |
| 20 | g.51784522A>T | CA409006085 | SALL4 | c.2905T>A (p.Trp969Arg) c.574T>A (p.Trp192Arg) c.1594T>A (p.Trp532Arg) c.2599T>A (p.Trp867Arg) c.2779T>A (p.Trp927Arg) | |
| 20 | g.51784523C>A | CA511025694 | SALL4 | c.2904G>T (p.Val968=) c.573G>T (p.Val191=) c.1593G>T (p.Val531=) c.2598G>T (p.Val866=) c.2778G>T (p.Val926=) | |
| 20 | g.51784523C= | CA2369155312 | SALL4 | c.2904G= (p.Val968=) c.573G= (p.Val191=) c.1593G= (p.Val531=) c.2598G= (p.Val866=) c.2778G= (p.Val926=) | |
| 20 | g.51784523C>G | CA9911973 | SALL4 | c.2904G>C (p.Val968=) c.573G>C (p.Val191=) c.1593G>C (p.Val531=) c.2598G>C (p.Val866=) c.2778G>C (p.Val926=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784523C>T | CA511025695 | SALL4 | c.2904G>A (p.Val968=) c.573G>A (p.Val191=) c.1593G>A (p.Val531=) c.2598G>A (p.Val866=) c.2778G>A (p.Val926=) | gnomAD v4 |
| 20 | g.51784524A= | CA2369155313 | SALL4 | c.2903T= (p.Val968=) c.572T= (p.Val191=) c.1592T= (p.Val531=) c.2597T= (p.Val866=) c.2777T= (p.Val926=) | |
| 20 | g.51784524A>C | CA9911974 | SALL4 | c.2903T>G (p.Val968Gly) c.572T>G (p.Val191Gly) c.1592T>G (p.Val531Gly) c.2597T>G (p.Val866Gly) c.2777T>G (p.Val926Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784524A>G | CA409006086 | SALL4 | c.2903T>C (p.Val968Ala) c.572T>C (p.Val191Ala) c.1592T>C (p.Val531Ala) c.2597T>C (p.Val866Ala) c.2777T>C (p.Val926Ala) | dbSNP |
| 20 | g.51784524A>T | CA409006087 | SALL4 | c.2903T>A (p.Val968Glu) c.572T>A (p.Val191Glu) c.1592T>A (p.Val531Glu) c.2597T>A (p.Val866Glu) c.2777T>A (p.Val926Glu) | |
| 20 | g.51784525C>A | CA9911975 | SALL4 | c.2902G>T (p.Val968Leu) c.571G>T (p.Val191Leu) c.1591G>T (p.Val531Leu) c.2596G>T (p.Val866Leu) c.2776G>T (p.Val926Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784525C= | CA2369155314 | SALL4 | c.2902G= (p.Val968=) c.571G= (p.Val191=) c.1591G= (p.Val531=) c.2596G= (p.Val866=) c.2776G= (p.Val926=) | |
| 20 | g.51784525C>G | CA409006088 | SALL4 | c.2902G>C (p.Val968Leu) c.571G>C (p.Val191Leu) c.1591G>C (p.Val531Leu) c.2596G>C (p.Val866Leu) c.2776G>C (p.Val926Leu) | |
| 20 | g.51784525C>T | CA409006089 | SALL4 | c.2902G>A (p.Val968Met) c.571G>A (p.Val191Met) c.1591G>A (p.Val531Met) c.2596G>A (p.Val866Met) c.2776G>A (p.Val926Met) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784526A= | CA2369155315 | SALL4 | c.2901T= (p.Val967=) c.570T= (p.Val190=) c.1590T= (p.Val530=) c.2595T= (p.Val865=) c.2775T= (p.Val925=) | |
| 20 | g.51784526A>C | CA511025700 | SALL4 | c.2901T>G (p.Val967=) c.570T>G (p.Val190=) c.1590T>G (p.Val530=) c.2595T>G (p.Val865=) c.2775T>G (p.Val925=) | |
| 20 | g.51784526A>G | CA9911976 | SALL4 | c.2901T>C (p.Val967=) c.570T>C (p.Val190=) c.1590T>C (p.Val530=) c.2595T>C (p.Val865=) c.2775T>C (p.Val925=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784526A>T | CA511025701 | SALL4 | c.2901T>A (p.Val967=) c.570T>A (p.Val190=) c.1590T>A (p.Val530=) c.2595T>A (p.Val865=) c.2775T>A (p.Val925=) | |
| 20 | g.51784527A= | CA2369155316 | SALL4 | c.2900T= (p.Val967=) c.569T= (p.Val190=) c.1589T= (p.Val530=) c.2594T= (p.Val865=) c.2774T= (p.Val925=) | |
| 20 | g.51784527A>C | CA409006091 | SALL4 | c.2900T>G (p.Val967Gly) c.569T>G (p.Val190Gly) c.1589T>G (p.Val530Gly) c.2594T>G (p.Val865Gly) c.2774T>G (p.Val925Gly) | |
| 20 | g.51784527A>G | CA9911977 | SALL4 | c.2900T>C (p.Val967Ala) c.569T>C (p.Val190Ala) c.1589T>C (p.Val530Ala) c.2594T>C (p.Val865Ala) c.2774T>C (p.Val925Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784527A>T | CA409006090 | SALL4 | c.2900T>A (p.Val967Asp) c.569T>A (p.Val190Asp) c.1589T>A (p.Val530Asp) c.2594T>A (p.Val865Asp) c.2774T>A (p.Val925Asp) | |
| 20 | g.51784528C>A | CA409006092 | SALL4 | c.2899G>T (p.Val967Phe) c.568G>T (p.Val190Phe) c.1588G>T (p.Val530Phe) c.2593G>T (p.Val865Phe) c.2773G>T (p.Val925Phe) | |
| 20 | g.51784528C= | CA2369155317 | SALL4 | c.2899G= (p.Val967=) c.568G= (p.Val190=) c.1588G= (p.Val530=) c.2593G= (p.Val865=) c.2773G= (p.Val925=) | |
| 20 | g.51784528C>G | CA409006093 | SALL4 | c.2899G>C (p.Val967Leu) c.568G>C (p.Val190Leu) c.1588G>C (p.Val530Leu) c.2593G>C (p.Val865Leu) c.2773G>C (p.Val925Leu) | |
| 20 | g.51784528C>T | CA9911978 | SALL4 | c.2899G>A (p.Val967Ile) c.568G>A (p.Val190Ile) c.1588G>A (p.Val530Ile) c.2593G>A (p.Val865Ile) c.2773G>A (p.Val925Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784529A>C | CA511025705 | SALL4 | c.2898T>G (p.Pro966=) c.567T>G (p.Pro189=) c.1587T>G (p.Pro529=) c.2592T>G (p.Pro864=) c.2772T>G (p.Pro924=) | gnomAD v4 |
| 20 | g.51784529A>G | CA511025706 | SALL4 | c.2898T>C (p.Pro966=) c.567T>C (p.Pro189=) c.1587T>C (p.Pro529=) c.2592T>C (p.Pro864=) c.2772T>C (p.Pro924=) | |
| 20 | g.51784529A>T | CA511025707 | SALL4 | c.2898T>A (p.Pro966=) c.567T>A (p.Pro189=) c.1587T>A (p.Pro529=) c.2592T>A (p.Pro864=) c.2772T>A (p.Pro924=) | |
| 20 | g.51784530G>A | CA409006094 | SALL4 | c.2897C>T (p.Pro966Leu) c.566C>T (p.Pro189Leu) c.1586C>T (p.Pro529Leu) c.2591C>T (p.Pro864Leu) c.2771C>T (p.Pro924Leu) | |
| 20 | g.51784530G>C | CA409006095 | SALL4 | c.2897C>G (p.Pro966Arg) c.566C>G (p.Pro189Arg) c.1586C>G (p.Pro529Arg) c.2591C>G (p.Pro864Arg) c.2771C>G (p.Pro924Arg) | gnomAD v4 |
| 20 | g.51784530G>T | CA409006096 | SALL4 | c.2897C>A (p.Pro966His) c.566C>A (p.Pro189His) c.1586C>A (p.Pro529His) c.2591C>A (p.Pro864His) c.2771C>A (p.Pro924His) | |
| 20 | g.51784532del | CA2653358751 | SALL4 | c.2897del (p.Pro966LeufsTer17) c.566del (p.Pro189LeufsTer17) c.1586del (p.Pro529LeufsTer17) c.2591del (p.Pro864LeufsTer17) c.2771del (p.Pro924LeufsTer17) | gnomAD v4 |
| 20 | g.51784531G>A | CA315366144 | SALL4 | c.2896C>T (p.Pro966Ser) c.565C>T (p.Pro189Ser) c.1585C>T (p.Pro529Ser) c.2590C>T (p.Pro864Ser) c.2770C>T (p.Pro924Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784531G>C | CA409006097 | SALL4 | c.2896C>G (p.Pro966Ala) c.565C>G (p.Pro189Ala) c.1585C>G (p.Pro529Ala) c.2590C>G (p.Pro864Ala) c.2770C>G (p.Pro924Ala) | |
| 20 | g.51784531G= | CA2369155318 | SALL4 | c.2896C= (p.Pro966=) c.565C= (p.Pro189=) c.1585C= (p.Pro529=) c.2590C= (p.Pro864=) c.2770C= (p.Pro924=) | |
| 20 | g.51784531G>T | CA409006098 | SALL4 | c.2896C>A (p.Pro966Thr) c.565C>A (p.Pro189Thr) c.1585C>A (p.Pro529Thr) c.2590C>A (p.Pro864Thr) c.2770C>A (p.Pro924Thr) | |
| 20 | g.51784532G>A | CA511025712 | SALL4 | c.2895C>T (p.Asp965=) c.564C>T (p.Asp188=) c.1584C>T (p.Asp528=) c.2589C>T (p.Asp863=) c.2769C>T (p.Asp923=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784532G>C | CA409006099 | SALL4 | c.2895C>G (p.Asp965Glu) c.564C>G (p.Asp188Glu) c.1584C>G (p.Asp528Glu) c.2589C>G (p.Asp863Glu) c.2769C>G (p.Asp923Glu) | dbSNP gnomAD v4 |
| 20 | g.51784532G= | CA2369155319 | SALL4 | c.2895C= (p.Asp965=) c.564C= (p.Asp188=) c.1584C= (p.Asp528=) c.2589C= (p.Asp863=) c.2769C= (p.Asp923=) | |
| 20 | g.51784532G>T | CA409006100 | SALL4 | c.2895C>A (p.Asp965Glu) c.564C>A (p.Asp188Glu) c.1584C>A (p.Asp528Glu) c.2589C>A (p.Asp863Glu) c.2769C>A (p.Asp923Glu) | |
| 20 | g.51784533T>A | CA409006103 | SALL4 | c.2894A>T (p.Asp965Val) c.563A>T (p.Asp188Val) c.1583A>T (p.Asp528Val) c.2588A>T (p.Asp863Val) c.2768A>T (p.Asp923Val) | |
| 20 | g.51784533T>C | CA409006102 | SALL4 | c.2894A>G (p.Asp965Gly) c.563A>G (p.Asp188Gly) c.1583A>G (p.Asp528Gly) c.2588A>G (p.Asp863Gly) c.2768A>G (p.Asp923Gly) | |
| 20 | g.51784533T>G | CA409006101 | SALL4 | c.2894A>C (p.Asp965Ala) c.563A>C (p.Asp188Ala) c.1583A>C (p.Asp528Ala) c.2588A>C (p.Asp863Ala) c.2768A>C (p.Asp923Ala) | |
| 20 | g.51784534C>A | CA409006105 | SALL4 | c.2893G>T (p.Asp965Tyr) c.562G>T (p.Asp188Tyr) c.1582G>T (p.Asp528Tyr) c.2587G>T (p.Asp863Tyr) c.2767G>T (p.Asp923Tyr) | gnomAD v4 |
| 20 | g.51784534C= | CA2369155320 | SALL4 | c.2893G= (p.Asp965=) c.562G= (p.Asp188=) c.1582G= (p.Asp528=) c.2587G= (p.Asp863=) c.2767G= (p.Asp923=) | |
| 20 | g.51784534C>G | CA409006104 | SALL4 | c.2893G>C (p.Asp965His) c.562G>C (p.Asp188His) c.1582G>C (p.Asp528His) c.2587G>C (p.Asp863His) c.2767G>C (p.Asp923His) | |
| 20 | g.51784534C>T | CA9911979 | SALL4 | c.2893G>A (p.Asp965Asn) c.562G>A (p.Asp188Asn) c.1582G>A (p.Asp528Asn) c.2587G>A (p.Asp863Asn) c.2767G>A (p.Asp923Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784535C>A | CA511025720 | SALL4 | c.2892G>T (p.Val964=) c.561G>T (p.Val187=) c.1581G>T (p.Val527=) c.2586G>T (p.Val862=) c.2766G>T (p.Val922=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784535C= | CA2369155321 | SALL4 | c.2892G= (p.Val964=) c.561G= (p.Val187=) c.1581G= (p.Val527=) c.2586G= (p.Val862=) c.2766G= (p.Val922=) | |
| 20 | g.51784535C>G | CA511025721 | SALL4 | c.2892G>C (p.Val964=) c.561G>C (p.Val187=) c.1581G>C (p.Val527=) c.2586G>C (p.Val862=) c.2766G>C (p.Val922=) | |
| 20 | g.51784535C>T | CA511025722 | SALL4 | c.2892G>A (p.Val964=) c.561G>A (p.Val187=) c.1581G>A (p.Val527=) c.2586G>A (p.Val862=) c.2766G>A (p.Val922=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784536A= | CA2369155322 | SALL4 | c.2891T= (p.Val964=) c.560T= (p.Val187=) c.1580T= (p.Val527=) c.2585T= (p.Val862=) c.2765T= (p.Val922=) | |
| 20 | g.51784536A>C | CA409006106 | SALL4 | c.2891T>G (p.Val964Gly) c.560T>G (p.Val187Gly) c.1580T>G (p.Val527Gly) c.2585T>G (p.Val862Gly) c.2765T>G (p.Val922Gly) | |
| 20 | g.51784536A>G | CA409006107 | SALL4 | c.2891T>C (p.Val964Ala) c.560T>C (p.Val187Ala) c.1580T>C (p.Val527Ala) c.2585T>C (p.Val862Ala) c.2765T>C (p.Val922Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784536A>T | CA409006108 | SALL4 | c.2891T>A (p.Val964Glu) c.560T>A (p.Val187Glu) c.1580T>A (p.Val527Glu) c.2585T>A (p.Val862Glu) c.2765T>A (p.Val922Glu) | |
| 20 | g.51784537C>A | CA409006109 | SALL4 | c.2890G>T (p.Val964Leu) c.559G>T (p.Val187Leu) c.1579G>T (p.Val527Leu) c.2584G>T (p.Val862Leu) c.2764G>T (p.Val922Leu) | gnomAD v4 |
| 20 | g.51784537C>G | CA409006110 | SALL4 | c.2890G>C (p.Val964Leu) c.559G>C (p.Val187Leu) c.1579G>C (p.Val527Leu) c.2584G>C (p.Val862Leu) c.2764G>C (p.Val922Leu) | |
| 20 | g.51784537C>T | CA409006111 | SALL4 | c.2890G>A (p.Val964Met) c.559G>A (p.Val187Met) c.1579G>A (p.Val527Met) c.2584G>A (p.Val862Met) c.2764G>A (p.Val922Met) | gnomAD v4 |
| 20 | g.51784538A>C | CA409006112 | SALL4 | c.2889T>G (p.Asn963Lys) c.558T>G (p.Asn186Lys) c.1578T>G (p.Asn526Lys) c.2583T>G (p.Asn861Lys) c.2763T>G (p.Asn921Lys) | |
| 20 | g.51784538A>G | CA511025727 | SALL4 | c.2889T>C (p.Asn963=) c.558T>C (p.Asn186=) c.1578T>C (p.Asn526=) c.2583T>C (p.Asn861=) c.2763T>C (p.Asn921=) | gnomAD v4 |
| 20 | g.51784538A>T | CA409006113 | SALL4 | c.2889T>A (p.Asn963Lys) c.558T>A (p.Asn186Lys) c.1578T>A (p.Asn526Lys) c.2583T>A (p.Asn861Lys) c.2763T>A (p.Asn921Lys) | |
| 20 | g.51784539T>A | CA409006114 | SALL4 | c.2888A>T (p.Asn963Ile) c.557A>T (p.Asn186Ile) c.1577A>T (p.Asn526Ile) c.2582A>T (p.Asn861Ile) c.2762A>T (p.Asn921Ile) | |
| 20 | g.51784539T>C | CA409006115 | SALL4 | c.2888A>G (p.Asn963Ser) c.557A>G (p.Asn186Ser) c.1577A>G (p.Asn526Ser) c.2582A>G (p.Asn861Ser) c.2762A>G (p.Asn921Ser) | |
| 20 | g.51784539T>G | CA409006116 | SALL4 | c.2888A>C (p.Asn963Thr) c.557A>C (p.Asn186Thr) c.1577A>C (p.Asn526Thr) c.2582A>C (p.Asn861Thr) c.2762A>C (p.Asn921Thr) | |
| 20 | g.51784539_51784545dup | CA2577428510 | SALL4 | c.2882_2888dup (p.Val964SerfsTer25) c.551_557dup (p.Val187SerfsTer25) c.1571_1577dup (p.Val527SerfsTer25) c.2576_2582dup (p.Val862SerfsTer25) c.2756_2762dup (p.Val922SerfsTer25) | |
| 20 | g.51784540T>A | CA409006119 | SALL4 | c.2887A>T (p.Asn963Tyr) c.556A>T (p.Asn186Tyr) c.1576A>T (p.Asn526Tyr) c.2581A>T (p.Asn861Tyr) c.2761A>T (p.Asn921Tyr) | |
| 20 | g.51784540T>C | CA409006117 | SALL4 | c.2887A>G (p.Asn963Asp) c.556A>G (p.Asn186Asp) c.1576A>G (p.Asn526Asp) c.2581A>G (p.Asn861Asp) c.2761A>G (p.Asn921Asp) | |
| 20 | g.51784540T>G | CA409006118 | SALL4 | c.2887A>C (p.Asn963His) c.556A>C (p.Asn186His) c.1576A>C (p.Asn526His) c.2581A>C (p.Asn861His) c.2761A>C (p.Asn921His) | |
| 20 | g.51784541C>A | CA511025728 | SALL4 | c.2886G>T (p.Val962=) c.555G>T (p.Val185=) c.1575G>T (p.Val525=) c.2580G>T (p.Val860=) c.2760G>T (p.Val920=) | |
| 20 | g.51784541C= | CA2369155323 | SALL4 | c.2886G= (p.Val962=) c.555G= (p.Val185=) c.1575G= (p.Val525=) c.2580G= (p.Val860=) c.2760G= (p.Val920=) | |
| 20 | g.51784541C>G | CA511025731 | SALL4 | c.2886G>C (p.Val962=) c.555G>C (p.Val185=) c.1575G>C (p.Val525=) c.2580G>C (p.Val860=) c.2760G>C (p.Val920=) | |
| 20 | g.51784541C>T | CA315366176 | SALL4 | c.2886G>A (p.Val962=) c.555G>A (p.Val185=) c.1575G>A (p.Val525=) c.2580G>A (p.Val860=) c.2760G>A (p.Val920=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784542A>C | CA409006120 | SALL4 | c.2885T>G (p.Val962Gly) c.554T>G (p.Val185Gly) c.1574T>G (p.Val525Gly) c.2579T>G (p.Val860Gly) c.2759T>G (p.Val920Gly) | |
| 20 | g.51784542A>G | CA409006121 | SALL4 | c.2885T>C (p.Val962Ala) c.554T>C (p.Val185Ala) c.1574T>C (p.Val525Ala) c.2579T>C (p.Val860Ala) c.2759T>C (p.Val920Ala) | |
| 20 | g.51784542A>T | CA409006122 | SALL4 | c.2885T>A (p.Val962Glu) c.554T>A (p.Val185Glu) c.1574T>A (p.Val525Glu) c.2579T>A (p.Val860Glu) c.2759T>A (p.Val920Glu) | |
| 20 | g.51784543C>A | CA409006123 | SALL4 | c.2884G>T (p.Val962Leu) c.553G>T (p.Val185Leu) c.1573G>T (p.Val525Leu) c.2578G>T (p.Val860Leu) c.2758G>T (p.Val920Leu) | |
| 20 | g.51784543C>G | CA409006124 | SALL4 | c.2884G>C (p.Val962Leu) c.553G>C (p.Val185Leu) c.1573G>C (p.Val525Leu) c.2578G>C (p.Val860Leu) c.2758G>C (p.Val920Leu) | |
| 20 | g.51784543C>T | CA409006125 | SALL4 | c.2884G>A (p.Val962Met) c.553G>A (p.Val185Met) c.1573G>A (p.Val525Met) c.2578G>A (p.Val860Met) c.2758G>A (p.Val920Met) | |
| 20 | g.51784544T>A | CA511025735 | SALL4 | c.2883A>T (p.Ser961=) c.552A>T (p.Ser184=) c.1572A>T (p.Ser524=) c.2577A>T (p.Ser859=) c.2757A>T (p.Ser919=) | |
| 20 | g.51784544T>C | CA511025738 | SALL4 | c.2883A>G (p.Ser961=) c.552A>G (p.Ser184=) c.1572A>G (p.Ser524=) c.2577A>G (p.Ser859=) c.2757A>G (p.Ser919=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784544T>G | CA511025740 | SALL4 | c.2883A>C (p.Ser961=) c.552A>C (p.Ser184=) c.1572A>C (p.Ser524=) c.2577A>C (p.Ser859=) c.2757A>C (p.Ser919=) | |
| 20 | g.51784544T= | CA2369155324 | SALL4 | c.2883A= (p.Ser961=) c.552A= (p.Ser184=) c.1572A= (p.Ser524=) c.2577A= (p.Ser859=) c.2757A= (p.Ser919=) | |
| 20 | g.51784545G>A | CA409006126 | SALL4 | c.2882C>T (p.Ser961Leu) c.551C>T (p.Ser184Leu) c.1571C>T (p.Ser524Leu) c.2576C>T (p.Ser859Leu) c.2756C>T (p.Ser919Leu) | |
| 20 | g.51784545G>C | CA409006127 | SALL4 | c.2882C>G (p.Ser961Ter) c.551C>G (p.Ser184Ter) c.1571C>G (p.Ser524Ter) c.2576C>G (p.Ser859Ter) c.2756C>G (p.Ser919Ter) | |
| 20 | g.51784545G>T | CA409006128 | SALL4 | c.2882C>A (p.Ser961Ter) c.551C>A (p.Ser184Ter) c.1571C>A (p.Ser524Ter) c.2576C>A (p.Ser859Ter) c.2756C>A (p.Ser919Ter) | gnomAD v4 |
| 20 | g.51784546A>C | CA409006129 | SALL4 | c.2881T>G (p.Ser961Ala) c.550T>G (p.Ser184Ala) c.1570T>G (p.Ser524Ala) c.2575T>G (p.Ser859Ala) c.2755T>G (p.Ser919Ala) | |
| 20 | g.51784546A>G | CA409006130 | SALL4 | c.2881T>C (p.Ser961Pro) c.550T>C (p.Ser184Pro) c.1570T>C (p.Ser524Pro) c.2575T>C (p.Ser859Pro) c.2755T>C (p.Ser919Pro) | |
| 20 | g.51784546A>T | CA409006131 | SALL4 | c.2881T>A (p.Ser961Thr) c.550T>A (p.Ser184Thr) c.1570T>A (p.Ser524Thr) c.2575T>A (p.Ser859Thr) c.2755T>A (p.Ser919Thr) | |
| 20 | g.51784547A>C | CA511025742 | SALL4 | c.2880T>G (p.Pro960=) c.549T>G (p.Pro183=) c.1569T>G (p.Pro523=) c.2574T>G (p.Pro858=) c.2754T>G (p.Pro918=) | |
| 20 | g.51784547A>G | CA511025743 | SALL4 | c.2880T>C (p.Pro960=) c.549T>C (p.Pro183=) c.1569T>C (p.Pro523=) c.2574T>C (p.Pro858=) c.2754T>C (p.Pro918=) | |
| 20 | g.51784547A>T | CA511025745 | SALL4 | c.2880T>A (p.Pro960=) c.549T>A (p.Pro183=) c.1569T>A (p.Pro523=) c.2574T>A (p.Pro858=) c.2754T>A (p.Pro918=) | |
| 20 | g.51784548G>A | CA409006133 | SALL4 | c.2879C>T (p.Pro960Leu) c.548C>T (p.Pro183Leu) c.1568C>T (p.Pro523Leu) c.2573C>T (p.Pro858Leu) c.2753C>T (p.Pro918Leu) | |
| 20 | g.51784548G>C | CA409006134 | SALL4 | c.2879C>G (p.Pro960Arg) c.548C>G (p.Pro183Arg) c.1568C>G (p.Pro523Arg) c.2573C>G (p.Pro858Arg) c.2753C>G (p.Pro918Arg) | |
| 20 | g.51784548G>T | CA409006132 | SALL4 | c.2879C>A (p.Pro960His) c.548C>A (p.Pro183His) c.1568C>A (p.Pro523His) c.2573C>A (p.Pro858His) c.2753C>A (p.Pro918His) | |
| 20 | g.51784549G>A | CA409006135 | SALL4 | c.2878C>T (p.Pro960Ser) c.547C>T (p.Pro183Ser) c.1567C>T (p.Pro523Ser) c.2572C>T (p.Pro858Ser) c.2752C>T (p.Pro918Ser) | gnomAD v4 |
| 20 | g.51784549G>C | CA409006137 | SALL4 | c.2878C>G (p.Pro960Ala) c.547C>G (p.Pro183Ala) c.1567C>G (p.Pro523Ala) c.2572C>G (p.Pro858Ala) c.2752C>G (p.Pro918Ala) | |
| 20 | g.51784549G>T | CA409006136 | SALL4 | c.2878C>A (p.Pro960Thr) c.547C>A (p.Pro183Thr) c.1567C>A (p.Pro523Thr) c.2572C>A (p.Pro858Thr) c.2752C>A (p.Pro918Thr) | |
| 20 | g.51784550G>A | CA511025750 | SALL4 | c.2877C>T (p.Ala959=) c.546C>T (p.Ala182=) c.1566C>T (p.Ala522=) c.2571C>T (p.Ala857=) c.2751C>T (p.Ala917=) | |
| 20 | g.51784550G>C | CA511025753 | SALL4 | c.2877C>G (p.Ala959=) c.546C>G (p.Ala182=) c.1566C>G (p.Ala522=) c.2571C>G (p.Ala857=) c.2751C>G (p.Ala917=) | |
| 20 | g.51784550G>T | CA511025755 | SALL4 | c.2877C>A (p.Ala959=) c.546C>A (p.Ala182=) c.1566C>A (p.Ala522=) c.2571C>A (p.Ala857=) c.2751C>A (p.Ala917=) |