| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51784253_51784269dup | CA9911907 | SALL4 | c.3159_*13dup (n.3159_*13dup) c.828_*13dup (n.828_*13dup) c.2853_*13dup (n.2853_*13dup) c.3033_*13dup (n.3033_*13dup) c.1848_*13dup (n.1848_*13dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784263C>T | CA2577428492 | SALL4 | c.*2G>A (n.*2G>A) | |
| 20 | g.51784265T>A | CA409005537 | SALL4 | c.3162A>T (p.Ter1054Tyr) c.831A>T (p.Ter277Tyr) c.1851A>T (p.Ter617Tyr) c.2856A>T (p.Ter952Tyr) c.3036A>T (p.Ter1012Tyr) | |
| 20 | g.51784265T>C | CA511025432 | SALL4 | c.3162A>G (p.Ter1054=) c.831A>G (p.Ter277=) c.1851A>G (p.Ter617=) c.2856A>G (p.Ter952=) c.3036A>G (p.Ter1012=) | |
| 20 | g.51784265T>G | CA409005538 | SALL4 | c.3162A>C (p.Ter1054Tyr) c.831A>C (p.Ter277Tyr) c.1851A>C (p.Ter617Tyr) c.2856A>C (p.Ter952Tyr) c.3036A>C (p.Ter1012Tyr) | |
| 20 | g.51784266T>A | CA409005539 | SALL4 | c.3161A>T (p.Ter1054Leu) c.830A>T (p.Ter277Leu) c.1850A>T (p.Ter617Leu) c.2855A>T (p.Ter952Leu) c.3035A>T (p.Ter1012Leu) | |
| 20 | g.51784266T>C | CA511025437 | SALL4 | c.3161A>G (p.Ter1054=) c.830A>G (p.Ter277=) c.1850A>G (p.Ter617=) c.2855A>G (p.Ter952=) c.3035A>G (p.Ter1012=) | ClinVar dbSNP |
| 20 | g.51784266T>G | CA409005540 | SALL4 | c.3161A>C (p.Ter1054Ser) c.830A>C (p.Ter277Ser) c.1850A>C (p.Ter617Ser) c.2855A>C (p.Ter952Ser) c.3035A>C (p.Ter1012Ser) | |
| 20 | g.51784266T= | CA2369155190 | SALL4 | c.3161A= (p.Ter1054=) c.830A= (p.Ter277=) c.1850A= (p.Ter617=) c.2855A= (p.Ter952=) c.3035A= (p.Ter1012=) | |
| 20 | g.51784267A>C | CA409005541 | SALL4 | c.3160T>G (p.Ter1054Glu) c.829T>G (p.Ter277Glu) c.1849T>G (p.Ter617Glu) c.2854T>G (p.Ter952Glu) c.3034T>G (p.Ter1012Glu) | |
| 20 | g.51784267A>G | CA409005542 | SALL4 | c.3160T>C (p.Ter1054Gln) c.829T>C (p.Ter277Gln) c.1849T>C (p.Ter617Gln) c.2854T>C (p.Ter952Gln) c.3034T>C (p.Ter1012Gln) | |
| 20 | g.51784267A>T | CA409005543 | SALL4 | c.3160T>A (p.Ter1054Lys) c.829T>A (p.Ter277Lys) c.1849T>A (p.Ter617Lys) c.2854T>A (p.Ter952Lys) c.3034T>A (p.Ter1012Lys) | |
| 20 | g.51784268G>A | CA511025441 | SALL4 | c.3159C>T (p.Ser1053=) c.828C>T (p.Ser276=) c.1848C>T (p.Ser616=) c.2853C>T (p.Ser951=) c.3033C>T (p.Ser1011=) | |
| 20 | g.51784268G>C | CA409005544 | SALL4 | c.3159C>G (p.Ser1053Arg) c.828C>G (p.Ser276Arg) c.1848C>G (p.Ser616Arg) c.2853C>G (p.Ser951Arg) c.3033C>G (p.Ser1011Arg) | |
| 20 | g.51784268G>T | CA409005545 | SALL4 | c.3159C>A (p.Ser1053Arg) c.828C>A (p.Ser276Arg) c.1848C>A (p.Ser616Arg) c.2853C>A (p.Ser951Arg) c.3033C>A (p.Ser1011Arg) | |
| 20 | g.51784269C>A | CA409005548 | SALL4 | c.3158G>T (p.Ser1053Ile) c.827G>T (p.Ser276Ile) c.1847G>T (p.Ser616Ile) c.2852G>T (p.Ser951Ile) c.3032G>T (p.Ser1011Ile) | |
| 20 | g.51784269C= | CA2369155191 | SALL4 | c.3158G= (p.Ser1053=) c.827G= (p.Ser276=) c.1847G= (p.Ser616=) c.2852G= (p.Ser951=) c.3032G= (p.Ser1011=) | |
| 20 | g.51784269C>G | CA409005547 | SALL4 | c.3158G>C (p.Ser1053Thr) c.827G>C (p.Ser276Thr) c.1847G>C (p.Ser616Thr) c.2852G>C (p.Ser951Thr) c.3032G>C (p.Ser1011Thr) | |
| 20 | g.51784269C>T | CA409005546 | SALL4 | c.3158G>A (p.Ser1053Asn) c.827G>A (p.Ser276Asn) c.1847G>A (p.Ser616Asn) c.2852G>A (p.Ser951Asn) c.3032G>A (p.Ser1011Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784270T>A | CA409005549 | SALL4 | c.3157A>T (p.Ser1053Cys) c.826A>T (p.Ser276Cys) c.1846A>T (p.Ser616Cys) c.2851A>T (p.Ser951Cys) c.3031A>T (p.Ser1011Cys) | |
| 20 | g.51784270T>C | CA409005550 | SALL4 | c.3157A>G (p.Ser1053Gly) c.826A>G (p.Ser276Gly) c.1846A>G (p.Ser616Gly) c.2851A>G (p.Ser951Gly) c.3031A>G (p.Ser1011Gly) | |
| 20 | g.51784270T>G | CA409005551 | SALL4 | c.3157A>C (p.Ser1053Arg) c.826A>C (p.Ser276Arg) c.1846A>C (p.Ser616Arg) c.2851A>C (p.Ser951Arg) c.3031A>C (p.Ser1011Arg) | |
| 20 | g.51784271G>A | CA511025461 | SALL4 | c.3156C>T (p.Val1052=) c.825C>T (p.Val275=) c.1845C>T (p.Val615=) c.2850C>T (p.Val950=) c.3030C>T (p.Val1010=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784271G>C | CA511025460 | SALL4 | c.3156C>G (p.Val1052=) c.825C>G (p.Val275=) c.1845C>G (p.Val615=) c.2850C>G (p.Val950=) c.3030C>G (p.Val1010=) | gnomAD v4 |
| 20 | g.51784271G= | CA2369155192 | SALL4 | c.3156C= (p.Val1052=) c.825C= (p.Val275=) c.1845C= (p.Val615=) c.2850C= (p.Val950=) c.3030C= (p.Val1010=) | |
| 20 | g.51784271G>T | CA511025459 | SALL4 | c.3156C>A (p.Val1052=) c.825C>A (p.Val275=) c.1845C>A (p.Val615=) c.2850C>A (p.Val950=) c.3030C>A (p.Val1010=) | gnomAD v4 |
| 20 | g.51784272A>C | CA409005552 | SALL4 | c.3155T>G (p.Val1052Gly) c.824T>G (p.Val275Gly) c.1844T>G (p.Val615Gly) c.2849T>G (p.Val950Gly) c.3029T>G (p.Val1010Gly) | |
| 20 | g.51784272A>G | CA409005553 | SALL4 | c.3155T>C (p.Val1052Ala) c.824T>C (p.Val275Ala) c.1844T>C (p.Val615Ala) c.2849T>C (p.Val950Ala) c.3029T>C (p.Val1010Ala) | |
| 20 | g.51784272A>T | CA409005554 | SALL4 | c.3155T>A (p.Val1052Asp) c.824T>A (p.Val275Asp) c.1844T>A (p.Val615Asp) c.2849T>A (p.Val950Asp) c.3029T>A (p.Val1010Asp) | |
| 20 | g.51784273C>A | CA409005555 | SALL4 | c.3154G>T (p.Val1052Phe) c.823G>T (p.Val275Phe) c.1843G>T (p.Val615Phe) c.2848G>T (p.Val950Phe) c.3028G>T (p.Val1010Phe) | gnomAD v4 |
| 20 | g.51784273C= | CA2369155193 | SALL4 | c.3154G= (p.Val1052=) c.823G= (p.Val275=) c.1843G= (p.Val615=) c.2848G= (p.Val950=) c.3028G= (p.Val1010=) | |
| 20 | g.51784273C>G | CA409005557 | SALL4 | c.3154G>C (p.Val1052Leu) c.823G>C (p.Val275Leu) c.1843G>C (p.Val615Leu) c.2848G>C (p.Val950Leu) c.3028G>C (p.Val1010Leu) | |
| 20 | g.51784273C>T | CA409005556 | SALL4 | c.3154G>A (p.Val1052Ile) c.823G>A (p.Val275Ile) c.1843G>A (p.Val615Ile) c.2848G>A (p.Val950Ile) c.3028G>A (p.Val1010Ile) | dbSNP gnomAD v4 |
| 20 | g.51784274C>A | CA511025470 | SALL4 | c.3153G>T (p.Ala1051=) c.822G>T (p.Ala274=) c.1842G>T (p.Ala614=) c.2847G>T (p.Ala949=) c.3027G>T (p.Ala1009=) | |
| 20 | g.51784274C= | CA2369155194 | SALL4 | c.3153G= (p.Ala1051=) c.822G= (p.Ala274=) c.1842G= (p.Ala614=) c.2847G= (p.Ala949=) c.3027G= (p.Ala1009=) | |
| 20 | g.51784274C>G | CA511025471 | SALL4 | c.3153G>C (p.Ala1051=) c.822G>C (p.Ala274=) c.1842G>C (p.Ala614=) c.2847G>C (p.Ala949=) c.3027G>C (p.Ala1009=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784274C>T | CA9911911 | SALL4 | c.3153G>A (p.Ala1051=) c.822G>A (p.Ala274=) c.1842G>A (p.Ala614=) c.2847G>A (p.Ala949=) c.3027G>A (p.Ala1009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784275G>A | CA9911912 | SALL4 | c.3152C>T (p.Ala1051Val) c.821C>T (p.Ala274Val) c.1841C>T (p.Ala614Val) c.2846C>T (p.Ala949Val) c.3026C>T (p.Ala1009Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784275G>C | CA409005558 | SALL4 | c.3152C>G (p.Ala1051Gly) c.821C>G (p.Ala274Gly) c.1841C>G (p.Ala614Gly) c.2846C>G (p.Ala949Gly) c.3026C>G (p.Ala1009Gly) | |
| 20 | g.51784275G= | CA2369155195 | SALL4 | c.3152C= (p.Ala1051=) c.821C= (p.Ala274=) c.1841C= (p.Ala614=) c.2846C= (p.Ala949=) c.3026C= (p.Ala1009=) | |
| 20 | g.51784275G>T | CA409005559 | SALL4 | c.3152C>A (p.Ala1051Glu) c.821C>A (p.Ala274Glu) c.1841C>A (p.Ala614Glu) c.2846C>A (p.Ala949Glu) c.3026C>A (p.Ala1009Glu) | gnomAD v4 |
| 20 | g.51784276C>A | CA409005560 | SALL4 | c.3151G>T (p.Ala1051Ser) c.820G>T (p.Ala274Ser) c.1840G>T (p.Ala614Ser) c.2845G>T (p.Ala949Ser) c.3025G>T (p.Ala1009Ser) | |
| 20 | g.51784276C>G | CA409005561 | SALL4 | c.3151G>C (p.Ala1051Pro) c.820G>C (p.Ala274Pro) c.1840G>C (p.Ala614Pro) c.2845G>C (p.Ala949Pro) c.3025G>C (p.Ala1009Pro) | |
| 20 | g.51784276C>T | CA409005562 | SALL4 | c.3151G>A (p.Ala1051Thr) c.820G>A (p.Ala274Thr) c.1840G>A (p.Ala614Thr) c.2845G>A (p.Ala949Thr) c.3025G>A (p.Ala1009Thr) | |
| 20 | g.51784277A>C | CA409005563 | SALL4 | c.3150T>G (p.Ile1050Met) c.819T>G (p.Ile273Met) c.1839T>G (p.Ile613Met) c.2844T>G (p.Ile948Met) c.3024T>G (p.Ile1008Met) | |
| 20 | g.51784277A>G | CA511025479 | SALL4 | c.3150T>C (p.Ile1050=) c.819T>C (p.Ile273=) c.1839T>C (p.Ile613=) c.2844T>C (p.Ile948=) c.3024T>C (p.Ile1008=) | |
| 20 | g.51784277A>T | CA511025478 | SALL4 | c.3150T>A (p.Ile1050=) c.819T>A (p.Ile273=) c.1839T>A (p.Ile613=) c.2844T>A (p.Ile948=) c.3024T>A (p.Ile1008=) | |
| 20 | g.51784278A= | CA2369155196 | SALL4 | c.3149T= (p.Ile1050=) c.818T= (p.Ile273=) c.1838T= (p.Ile613=) c.2843T= (p.Ile948=) c.3023T= (p.Ile1008=) | |
| 20 | g.51784278A>C | CA409005564 | SALL4 | c.3149T>G (p.Ile1050Ser) c.818T>G (p.Ile273Ser) c.1838T>G (p.Ile613Ser) c.2843T>G (p.Ile948Ser) c.3023T>G (p.Ile1008Ser) | |
| 20 | g.51784278A>G | CA9911913 | SALL4 | c.3149T>C (p.Ile1050Thr) c.818T>C (p.Ile273Thr) c.1838T>C (p.Ile613Thr) c.2843T>C (p.Ile948Thr) c.3023T>C (p.Ile1008Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784278A>T | CA409005565 | SALL4 | c.3149T>A (p.Ile1050Asn) c.818T>A (p.Ile273Asn) c.1838T>A (p.Ile613Asn) c.2843T>A (p.Ile948Asn) c.3023T>A (p.Ile1008Asn) | |
| 20 | g.51784279T>A | CA409005566 | SALL4 | c.3148A>T (p.Ile1050Phe) c.817A>T (p.Ile273Phe) c.1837A>T (p.Ile613Phe) c.2842A>T (p.Ile948Phe) c.3022A>T (p.Ile1008Phe) | |
| 20 | g.51784279T>C | CA409005568 | SALL4 | c.3148A>G (p.Ile1050Val) c.817A>G (p.Ile273Val) c.1837A>G (p.Ile613Val) c.2842A>G (p.Ile948Val) c.3022A>G (p.Ile1008Val) | gnomAD v4 |
| 20 | g.51784279T>G | CA409005567 | SALL4 | c.3148A>C (p.Ile1050Leu) c.817A>C (p.Ile273Leu) c.1837A>C (p.Ile613Leu) c.2842A>C (p.Ile948Leu) c.3022A>C (p.Ile1008Leu) | |
| 20 | g.51784280C>A | CA409005569 | SALL4 | c.3147G>T (p.Lys1049Asn) c.816G>T (p.Lys272Asn) c.1836G>T (p.Lys612Asn) c.2841G>T (p.Lys947Asn) c.3021G>T (p.Lys1007Asn) | gnomAD v4 COSMIC |
| 20 | g.51784280C>G | CA409005570 | SALL4 | c.3147G>C (p.Lys1049Asn) c.816G>C (p.Lys272Asn) c.1836G>C (p.Lys612Asn) c.2841G>C (p.Lys947Asn) c.3021G>C (p.Lys1007Asn) | |
| 20 | g.51784280C>T | CA511025485 | SALL4 | c.3147G>A (p.Lys1049=) c.816G>A (p.Lys272=) c.1836G>A (p.Lys612=) c.2841G>A (p.Lys947=) c.3021G>A (p.Lys1007=) | |
| 20 | g.51784281T>A | CA409005571 | SALL4 | c.3146A>T (p.Lys1049Met) c.815A>T (p.Lys272Met) c.1835A>T (p.Lys612Met) c.2840A>T (p.Lys947Met) c.3020A>T (p.Lys1007Met) | |
| 20 | g.51784281T>C | CA409005573 | SALL4 | c.3146A>G (p.Lys1049Arg) c.815A>G (p.Lys272Arg) c.1835A>G (p.Lys612Arg) c.2840A>G (p.Lys947Arg) c.3020A>G (p.Lys1007Arg) | |
| 20 | g.51784281T>G | CA409005572 | SALL4 | c.3146A>C (p.Lys1049Thr) c.815A>C (p.Lys272Thr) c.1835A>C (p.Lys612Thr) c.2840A>C (p.Lys947Thr) c.3020A>C (p.Lys1007Thr) | |
| 20 | g.51784282T>A | CA409005574 | SALL4 | c.3145A>T (p.Lys1049Ter) c.814A>T (p.Lys272Ter) c.1834A>T (p.Lys612Ter) c.2839A>T (p.Lys947Ter) c.3019A>T (p.Lys1007Ter) | |
| 20 | g.51784282T>C | CA409005576 | SALL4 | c.3145A>G (p.Lys1049Glu) c.814A>G (p.Lys272Glu) c.1834A>G (p.Lys612Glu) c.2839A>G (p.Lys947Glu) c.3019A>G (p.Lys1007Glu) | |
| 20 | g.51784282T>G | CA409005575 | SALL4 | c.3145A>C (p.Lys1049Gln) c.814A>C (p.Lys272Gln) c.1834A>C (p.Lys612Gln) c.2839A>C (p.Lys947Gln) c.3019A>C (p.Lys1007Gln) | |
| 20 | g.51784283G>A | CA511025492 | SALL4 | c.3144C>T (p.Asn1048=) c.813C>T (p.Asn271=) c.1833C>T (p.Asn611=) c.2838C>T (p.Asn946=) c.3018C>T (p.Asn1006=) | gnomAD v4 |
| 20 | g.51784283G>C | CA409005577 | SALL4 | c.3144C>G (p.Asn1048Lys) c.813C>G (p.Asn271Lys) c.1833C>G (p.Asn611Lys) c.2838C>G (p.Asn946Lys) c.3018C>G (p.Asn1006Lys) | dbSNP |
| 20 | g.51784283G= | CA2369155197 | SALL4 | c.3144C= (p.Asn1048=) c.813C= (p.Asn271=) c.1833C= (p.Asn611=) c.2838C= (p.Asn946=) c.3018C= (p.Asn1006=) | |
| 20 | g.51784283G>T | CA409005578 | SALL4 | c.3144C>A (p.Asn1048Lys) c.813C>A (p.Asn271Lys) c.1833C>A (p.Asn611Lys) c.2838C>A (p.Asn946Lys) c.3018C>A (p.Asn1006Lys) | |
| 20 | g.51784284T>A | CA409005579 | SALL4 | c.3143A>T (p.Asn1048Ile) c.812A>T (p.Asn271Ile) c.1832A>T (p.Asn611Ile) c.2837A>T (p.Asn946Ile) c.3017A>T (p.Asn1006Ile) | |
| 20 | g.51784284T>C | CA409005580 | SALL4 | c.3143A>G (p.Asn1048Ser) c.812A>G (p.Asn271Ser) c.1832A>G (p.Asn611Ser) c.2837A>G (p.Asn946Ser) c.3017A>G (p.Asn1006Ser) | |
| 20 | g.51784284T>G | CA409005581 | SALL4 | c.3143A>C (p.Asn1048Thr) c.812A>C (p.Asn271Thr) c.1832A>C (p.Asn611Thr) c.2837A>C (p.Asn946Thr) c.3017A>C (p.Asn1006Thr) | gnomAD v4 |
| 20 | g.51784285T>A | CA409005582 | SALL4 | c.3142A>T (p.Asn1048Tyr) c.811A>T (p.Asn271Tyr) c.1831A>T (p.Asn611Tyr) c.2836A>T (p.Asn946Tyr) c.3016A>T (p.Asn1006Tyr) | |
| 20 | g.51784285T>C | CA409005583 | SALL4 | c.3142A>G (p.Asn1048Asp) c.811A>G (p.Asn271Asp) c.1831A>G (p.Asn611Asp) c.2836A>G (p.Asn946Asp) c.3016A>G (p.Asn1006Asp) | |
| 20 | g.51784285T>G | CA409005584 | SALL4 | c.3142A>C (p.Asn1048His) c.811A>C (p.Asn271His) c.1831A>C (p.Asn611His) c.2836A>C (p.Asn946His) c.3016A>C (p.Asn1006His) | |
| 20 | g.51784286T>A | CA409005585 | SALL4 | c.3141A>T (p.Glu1047Asp) c.810A>T (p.Glu270Asp) c.1830A>T (p.Glu610Asp) c.2835A>T (p.Glu945Asp) c.3015A>T (p.Glu1005Asp) | |
| 20 | g.51784286T>C | CA511025503 | SALL4 | c.3141A>G (p.Glu1047=) c.810A>G (p.Glu270=) c.1830A>G (p.Glu610=) c.2835A>G (p.Glu945=) c.3015A>G (p.Glu1005=) | |
| 20 | g.51784286T>G | CA409005586 | SALL4 | c.3141A>C (p.Glu1047Asp) c.810A>C (p.Glu270Asp) c.1830A>C (p.Glu610Asp) c.2835A>C (p.Glu945Asp) c.3015A>C (p.Glu1005Asp) | |
| 20 | g.51784289_51784291del | CA2577428493 | SALL4 | c.3139_3141del (p.Glu1047del) c.808_810del (p.Glu270del) c.1828_1830del (p.Glu610del) c.2833_2835del (p.Glu945del) c.3013_3015del (p.Glu1005del) | |
| 20 | g.51784287T>A | CA409005587 | SALL4 | c.3140A>T (p.Glu1047Val) c.809A>T (p.Glu270Val) c.1829A>T (p.Glu610Val) c.2834A>T (p.Glu945Val) c.3014A>T (p.Glu1005Val) | |
| 20 | g.51784287T>C | CA409005588 | SALL4 | c.3140A>G (p.Glu1047Gly) c.809A>G (p.Glu270Gly) c.1829A>G (p.Glu610Gly) c.2834A>G (p.Glu945Gly) c.3014A>G (p.Glu1005Gly) | gnomAD v4 |
| 20 | g.51784287T>G | CA409005589 | SALL4 | c.3140A>C (p.Glu1047Ala) c.809A>C (p.Glu270Ala) c.1829A>C (p.Glu610Ala) c.2834A>C (p.Glu945Ala) c.3014A>C (p.Glu1005Ala) | |
| 20 | g.51784288C>A | CA409005592 | SALL4 | c.3139G>T (p.Glu1047Ter) c.808G>T (p.Glu270Ter) c.1828G>T (p.Glu610Ter) c.2833G>T (p.Glu945Ter) c.3013G>T (p.Glu1005Ter) | COSMIC |
| 20 | g.51784288C>G | CA409005591 | SALL4 | c.3139G>C (p.Glu1047Gln) c.808G>C (p.Glu270Gln) c.1828G>C (p.Glu610Gln) c.2833G>C (p.Glu945Gln) c.3013G>C (p.Glu1005Gln) | |
| 20 | g.51784288C>T | CA409005590 | SALL4 | c.3139G>A (p.Glu1047Lys) c.808G>A (p.Glu270Lys) c.1828G>A (p.Glu610Lys) c.2833G>A (p.Glu945Lys) c.3013G>A (p.Glu1005Lys) | |
| 20 | g.51784289T>A | CA409005593 | SALL4 | c.3138A>T (p.Glu1046Asp) c.807A>T (p.Glu269Asp) c.1827A>T (p.Glu609Asp) c.2832A>T (p.Glu944Asp) c.3012A>T (p.Glu1004Asp) | |
| 20 | g.51784289T>C | CA511025509 | SALL4 | c.3138A>G (p.Glu1046=) c.807A>G (p.Glu269=) c.1827A>G (p.Glu609=) c.2832A>G (p.Glu944=) c.3012A>G (p.Glu1004=) | |
| 20 | g.51784289T>G | CA409005594 | SALL4 | c.3138A>C (p.Glu1046Asp) c.807A>C (p.Glu269Asp) c.1827A>C (p.Glu609Asp) c.2832A>C (p.Glu944Asp) c.3012A>C (p.Glu1004Asp) | |
| 20 | g.51784290T>A | CA409005595 | SALL4 | c.3137A>T (p.Glu1046Val) c.806A>T (p.Glu269Val) c.1826A>T (p.Glu609Val) c.2831A>T (p.Glu944Val) c.3011A>T (p.Glu1004Val) | |
| 20 | g.51784290T>C | CA409005596 | SALL4 | c.3137A>G (p.Glu1046Gly) c.806A>G (p.Glu269Gly) c.1826A>G (p.Glu609Gly) c.2831A>G (p.Glu944Gly) c.3011A>G (p.Glu1004Gly) | |
| 20 | g.51784290T>G | CA409005598 | SALL4 | c.3137A>C (p.Glu1046Ala) c.806A>C (p.Glu269Ala) c.1826A>C (p.Glu609Ala) c.2831A>C (p.Glu944Ala) c.3011A>C (p.Glu1004Ala) | |
| 20 | g.51784291C>A | CA409005599 | SALL4 | c.3136G>T (p.Glu1046Ter) c.805G>T (p.Glu269Ter) c.1825G>T (p.Glu609Ter) c.2830G>T (p.Glu944Ter) c.3010G>T (p.Glu1004Ter) | |
| 20 | g.51784291C>G | CA409005600 | SALL4 | c.3136G>C (p.Glu1046Gln) c.805G>C (p.Glu269Gln) c.1825G>C (p.Glu609Gln) c.2830G>C (p.Glu944Gln) c.3010G>C (p.Glu1004Gln) | |
| 20 | g.51784291C>T | CA409005601 | SALL4 | c.3136G>A (p.Glu1046Lys) c.805G>A (p.Glu269Lys) c.1825G>A (p.Glu609Lys) c.2830G>A (p.Glu944Lys) c.3010G>A (p.Glu1004Lys) | |
| 20 | g.51784292C>A | CA511025514 | SALL4 | c.3135G>T (p.Leu1045=) c.804G>T (p.Leu268=) c.1824G>T (p.Leu608=) c.2829G>T (p.Leu943=) c.3009G>T (p.Leu1003=) | |
| 20 | g.51784292C= | CA2369155198 | SALL4 | c.3135G= (p.Leu1045=) c.804G= (p.Leu268=) c.1824G= (p.Leu608=) c.2829G= (p.Leu943=) c.3009G= (p.Leu1003=) | |
| 20 | g.51784292C>G | CA511025515 | SALL4 | c.3135G>C (p.Leu1045=) c.804G>C (p.Leu268=) c.1824G>C (p.Leu608=) c.2829G>C (p.Leu943=) c.3009G>C (p.Leu1003=) | |
| 20 | g.51784292C>T | CA9911914 | SALL4 | c.3135G>A (p.Leu1045=) c.804G>A (p.Leu268=) c.1824G>A (p.Leu608=) c.2829G>A (p.Leu943=) c.3009G>A (p.Leu1003=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784293A= | CA2369155199 | SALL4 | c.3134T= (p.Leu1045=) c.803T= (p.Leu268=) c.1823T= (p.Leu608=) c.2828T= (p.Leu943=) c.3008T= (p.Leu1003=) | |
| 20 | g.51784293A>C | CA409005602 | SALL4 | c.3134T>G (p.Leu1045Arg) c.803T>G (p.Leu268Arg) c.1823T>G (p.Leu608Arg) c.2828T>G (p.Leu943Arg) c.3008T>G (p.Leu1003Arg) | |
| 20 | g.51784293A>G | CA409005603 | SALL4 | c.3134T>C (p.Leu1045Pro) c.803T>C (p.Leu268Pro) c.1823T>C (p.Leu608Pro) c.2828T>C (p.Leu943Pro) c.3008T>C (p.Leu1003Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784293A>T | CA409005604 | SALL4 | c.3134T>A (p.Leu1045Gln) c.803T>A (p.Leu268Gln) c.1823T>A (p.Leu608Gln) c.2828T>A (p.Leu943Gln) c.3008T>A (p.Leu1003Gln) | |
| 20 | g.51784294G>A | CA511025519 | SALL4 | c.3133C>T (p.Leu1045=) c.802C>T (p.Leu268=) c.1822C>T (p.Leu608=) c.2827C>T (p.Leu943=) c.3007C>T (p.Leu1003=) | dbSNP |
| 20 | g.51784294G>C | CA409005606 | SALL4 | c.3133C>G (p.Leu1045Val) c.802C>G (p.Leu268Val) c.1822C>G (p.Leu608Val) c.2827C>G (p.Leu943Val) c.3007C>G (p.Leu1003Val) | |
| 20 | g.51784294G= | CA2369155200 | SALL4 | c.3133C= (p.Leu1045=) c.802C= (p.Leu268=) c.1822C= (p.Leu608=) c.2827C= (p.Leu943=) c.3007C= (p.Leu1003=) | |
| 20 | g.51784294G>T | CA409005605 | SALL4 | c.3133C>A (p.Leu1045Met) c.802C>A (p.Leu268Met) c.1822C>A (p.Leu608Met) c.2827C>A (p.Leu943Met) c.3007C>A (p.Leu1003Met) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784295G>A | CA511025523 | SALL4 | c.3132C>T (p.Phe1044=) c.801C>T (p.Phe267=) c.1821C>T (p.Phe607=) c.2826C>T (p.Phe942=) c.3006C>T (p.Phe1002=) | |
| 20 | g.51784295G>C | CA409005607 | SALL4 | c.3132C>G (p.Phe1044Leu) c.801C>G (p.Phe267Leu) c.1821C>G (p.Phe607Leu) c.2826C>G (p.Phe942Leu) c.3006C>G (p.Phe1002Leu) | |
| 20 | g.51784295G= | CA2369155201 | SALL4 | c.3132C= (p.Phe1044=) c.801C= (p.Phe267=) c.1821C= (p.Phe607=) c.2826C= (p.Phe942=) c.3006C= (p.Phe1002=) | |
| 20 | g.51784295G>T | CA409005608 | SALL4 | c.3132C>A (p.Phe1044Leu) c.801C>A (p.Phe267Leu) c.1821C>A (p.Phe607Leu) c.2826C>A (p.Phe942Leu) c.3006C>A (p.Phe1002Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784296A= | CA2369155202 | SALL4 | c.3131T= (p.Phe1044=) c.800T= (p.Phe267=) c.1820T= (p.Phe607=) c.2825T= (p.Phe942=) c.3005T= (p.Phe1002=) | |
| 20 | g.51784296A>C | CA409005609 | SALL4 | c.3131T>G (p.Phe1044Cys) c.800T>G (p.Phe267Cys) c.1820T>G (p.Phe607Cys) c.2825T>G (p.Phe942Cys) c.3005T>G (p.Phe1002Cys) | |
| 20 | g.51784296A>G | CA409005610 | SALL4 | c.3131T>C (p.Phe1044Ser) c.800T>C (p.Phe267Ser) c.1820T>C (p.Phe607Ser) c.2825T>C (p.Phe942Ser) c.3005T>C (p.Phe1002Ser) | gnomAD v4 |
| 20 | g.51784296A>T | CA409005611 | SALL4 | c.3131T>A (p.Phe1044Tyr) c.800T>A (p.Phe267Tyr) c.1820T>A (p.Phe607Tyr) c.2825T>A (p.Phe942Tyr) c.3005T>A (p.Phe1002Tyr) | dbSNP |
| 20 | g.51784297A= | CA2369155203 | SALL4 | c.3130T= (p.Phe1044=) c.799T= (p.Phe267=) c.1819T= (p.Phe607=) c.2824T= (p.Phe942=) c.3004T= (p.Phe1002=) | |
| 20 | g.51784297A>C | CA409005612 | SALL4 | c.3130T>G (p.Phe1044Val) c.799T>G (p.Phe267Val) c.1819T>G (p.Phe607Val) c.2824T>G (p.Phe942Val) c.3004T>G (p.Phe1002Val) | dbSNP gnomAD v4 |
| 20 | g.51784297A>G | CA409005613 | SALL4 | c.3130T>C (p.Phe1044Leu) c.799T>C (p.Phe267Leu) c.1819T>C (p.Phe607Leu) c.2824T>C (p.Phe942Leu) c.3004T>C (p.Phe1002Leu) | dbSNP |
| 20 | g.51784297A>T | CA409005614 | SALL4 | c.3130T>A (p.Phe1044Ile) c.799T>A (p.Phe267Ile) c.1819T>A (p.Phe607Ile) c.2824T>A (p.Phe942Ile) c.3004T>A (p.Phe1002Ile) | dbSNP gnomAD v4 |
| 20 | g.51784298G>A | CA511025532 | SALL4 | c.3129C>T (p.His1043=) c.798C>T (p.His266=) c.1818C>T (p.His606=) c.2823C>T (p.His941=) c.3003C>T (p.His1001=) | |
| 20 | g.51784298G>C | CA409005615 | SALL4 | c.3129C>G (p.His1043Gln) c.798C>G (p.His266Gln) c.1818C>G (p.His606Gln) c.2823C>G (p.His941Gln) c.3003C>G (p.His1001Gln) | |
| 20 | g.51784298G= | CA2369155204 | SALL4 | c.3129C= (p.His1043=) c.798C= (p.His266=) c.1818C= (p.His606=) c.2823C= (p.His941=) c.3003C= (p.His1001=) | |
| 20 | g.51784298G>T | CA409005616 | SALL4 | c.3129C>A (p.His1043Gln) c.798C>A (p.His266Gln) c.1818C>A (p.His606Gln) c.2823C>A (p.His941Gln) c.3003C>A (p.His1001Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784299T>A | CA409005617 | SALL4 | c.3128A>T (p.His1043Leu) c.797A>T (p.His266Leu) c.1817A>T (p.His606Leu) c.2822A>T (p.His941Leu) c.3002A>T (p.His1001Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784299T>C | CA409005618 | SALL4 | c.3128A>G (p.His1043Arg) c.797A>G (p.His266Arg) c.1817A>G (p.His606Arg) c.2822A>G (p.His941Arg) c.3002A>G (p.His1001Arg) | |
| 20 | g.51784299T>G | CA9911915 | SALL4 | c.3128A>C (p.His1043Pro) c.797A>C (p.His266Pro) c.1817A>C (p.His606Pro) c.2822A>C (p.His941Pro) c.3002A>C (p.His1001Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784299T= | CA2369155205 | SALL4 | c.3128A= (p.His1043=) c.797A= (p.His266=) c.1817A= (p.His606=) c.2822A= (p.His941=) c.3002A= (p.His1001=) | |
| 20 | g.51784300G>A | CA409005621 | SALL4 | c.3127C>T (p.His1043Tyr) c.796C>T (p.His266Tyr) c.1816C>T (p.His606Tyr) c.2821C>T (p.His941Tyr) c.3001C>T (p.His1001Tyr) | |
| 20 | g.51784300G>C | CA409005619 | SALL4 | c.3127C>G (p.His1043Asp) c.796C>G (p.His266Asp) c.1816C>G (p.His606Asp) c.2821C>G (p.His941Asp) c.3001C>G (p.His1001Asp) | |
| 20 | g.51784300G>T | CA409005620 | SALL4 | c.3127C>A (p.His1043Asn) c.796C>A (p.His266Asn) c.1816C>A (p.His606Asn) c.2821C>A (p.His941Asn) c.3001C>A (p.His1001Asn) | |
| 20 | g.51784301A>C | CA511025544 | SALL4 | c.3126T>G (p.Pro1042=) c.795T>G (p.Pro265=) c.1815T>G (p.Pro605=) c.2820T>G (p.Pro940=) c.3000T>G (p.Pro1000=) | |
| 20 | g.51784301A>G | CA511025542 | SALL4 | c.3126T>C (p.Pro1042=) c.795T>C (p.Pro265=) c.1815T>C (p.Pro605=) c.2820T>C (p.Pro940=) c.3000T>C (p.Pro1000=) | |
| 20 | g.51784301A>T | CA511025540 | SALL4 | c.3126T>A (p.Pro1042=) c.795T>A (p.Pro265=) c.1815T>A (p.Pro605=) c.2820T>A (p.Pro940=) c.3000T>A (p.Pro1000=) | |
| 20 | g.51784302G>A | CA409005622 | SALL4 | c.3125C>T (p.Pro1042Leu) c.794C>T (p.Pro265Leu) c.1814C>T (p.Pro605Leu) c.2819C>T (p.Pro940Leu) c.2999C>T (p.Pro1000Leu) | |
| 20 | g.51784302G>C | CA409005623 | SALL4 | c.3125C>G (p.Pro1042Arg) c.794C>G (p.Pro265Arg) c.1814C>G (p.Pro605Arg) c.2819C>G (p.Pro940Arg) c.2999C>G (p.Pro1000Arg) | |
| 20 | g.51784302G>T | CA409005624 | SALL4 | c.3125C>A (p.Pro1042His) c.794C>A (p.Pro265His) c.1814C>A (p.Pro605His) c.2819C>A (p.Pro940His) c.2999C>A (p.Pro1000His) | |
| 20 | g.51784303G>A | CA409005625 | SALL4 | c.3124C>T (p.Pro1042Ser) c.793C>T (p.Pro265Ser) c.1813C>T (p.Pro605Ser) c.2818C>T (p.Pro940Ser) c.2998C>T (p.Pro1000Ser) | COSMIC |
| 20 | g.51784303G>C | CA409005626 | SALL4 | c.3124C>G (p.Pro1042Ala) c.793C>G (p.Pro265Ala) c.1813C>G (p.Pro605Ala) c.2818C>G (p.Pro940Ala) c.2998C>G (p.Pro1000Ala) | |
| 20 | g.51784303G>T | CA409005627 | SALL4 | c.3124C>A (p.Pro1042Thr) c.793C>A (p.Pro265Thr) c.1813C>A (p.Pro605Thr) c.2818C>A (p.Pro940Thr) c.2998C>A (p.Pro1000Thr) | |
| 20 | g.51784304A>C | CA409005628 | SALL4 | c.3123T>G (p.Phe1041Leu) c.792T>G (p.Phe264Leu) c.1812T>G (p.Phe604Leu) c.2817T>G (p.Phe939Leu) c.2997T>G (p.Phe999Leu) | |
| 20 | g.51784304A>G | CA511025551 | SALL4 | c.3123T>C (p.Phe1041=) c.792T>C (p.Phe264=) c.1812T>C (p.Phe604=) c.2817T>C (p.Phe939=) c.2997T>C (p.Phe999=) | |
| 20 | g.51784304A>T | CA409005629 | SALL4 | c.3123T>A (p.Phe1041Leu) c.792T>A (p.Phe264Leu) c.1812T>A (p.Phe604Leu) c.2817T>A (p.Phe939Leu) c.2997T>A (p.Phe999Leu) | |
| 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.51784305A>C | CA409005630 | SALL4 | c.3122T>G (p.Phe1041Cys) c.791T>G (p.Phe264Cys) c.1811T>G (p.Phe604Cys) c.2816T>G (p.Phe939Cys) c.2996T>G (p.Phe999Cys) | |
| 20 | g.51784305A>G | CA409005631 | SALL4 | c.3122T>C (p.Phe1041Ser) c.791T>C (p.Phe264Ser) c.1811T>C (p.Phe604Ser) c.2816T>C (p.Phe939Ser) c.2996T>C (p.Phe999Ser) | |
| 20 | g.51784305A>T | CA409005632 | SALL4 | c.3122T>A (p.Phe1041Tyr) c.791T>A (p.Phe264Tyr) c.1811T>A (p.Phe604Tyr) c.2816T>A (p.Phe939Tyr) c.2996T>A (p.Phe999Tyr) | |
| 20 | g.51784306A= | CA2369155206 | SALL4 | c.3121T= (p.Phe1041=) c.790T= (p.Phe264=) c.1810T= (p.Phe604=) c.2815T= (p.Phe939=) c.2995T= (p.Phe999=) | |
| 20 | g.51784306A>C | CA409005635 | SALL4 | c.3121T>G (p.Phe1041Val) c.790T>G (p.Phe264Val) c.1810T>G (p.Phe604Val) c.2815T>G (p.Phe939Val) c.2995T>G (p.Phe999Val) | |
| 20 | g.51784306A>G | CA409005634 | SALL4 | c.3121T>C (p.Phe1041Leu) c.790T>C (p.Phe264Leu) c.1810T>C (p.Phe604Leu) c.2815T>C (p.Phe939Leu) c.2995T>C (p.Phe999Leu) | |
| 20 | g.51784306A>T | CA409005633 | SALL4 | c.3121T>A (p.Phe1041Ile) c.790T>A (p.Phe264Ile) c.1810T>A (p.Phe604Ile) c.2815T>A (p.Phe939Ile) c.2995T>A (p.Phe999Ile) | dbSNP |
| 20 | g.51784307C>A | CA409005636 | SALL4 | c.3120G>T (p.Gln1040His) c.789G>T (p.Gln263His) c.1809G>T (p.Gln603His) c.2814G>T (p.Gln938His) c.2994G>T (p.Gln998His) | |
| 20 | g.51784307C= | CA2369155207 | SALL4 | c.3120G= (p.Gln1040=) c.789G= (p.Gln263=) c.1809G= (p.Gln603=) c.2814G= (p.Gln938=) c.2994G= (p.Gln998=) | |
| 20 | g.51784307C>G | CA409005637 | SALL4 | c.3120G>C (p.Gln1040His) c.789G>C (p.Gln263His) c.1809G>C (p.Gln603His) c.2814G>C (p.Gln938His) c.2994G>C (p.Gln998His) | dbSNP gnomAD v4 |
| 20 | g.51784307C>T | CA511025556 | SALL4 | c.3120G>A (p.Gln1040=) c.789G>A (p.Gln263=) c.1809G>A (p.Gln603=) c.2814G>A (p.Gln938=) c.2994G>A (p.Gln998=) | |
| 20 | g.51784308T>A | CA409005638 | SALL4 | c.3119A>T (p.Gln1040Leu) c.788A>T (p.Gln263Leu) c.1808A>T (p.Gln603Leu) c.2813A>T (p.Gln938Leu) c.2993A>T (p.Gln998Leu) | |
| 20 | g.51784308T>C | CA409005639 | SALL4 | c.3119A>G (p.Gln1040Arg) c.788A>G (p.Gln263Arg) c.1808A>G (p.Gln603Arg) c.2813A>G (p.Gln938Arg) c.2993A>G (p.Gln998Arg) | |
| 20 | g.51784308T>G | CA315365628 | SALL4 | c.3119A>C (p.Gln1040Pro) c.788A>C (p.Gln263Pro) c.1808A>C (p.Gln603Pro) c.2813A>C (p.Gln938Pro) c.2993A>C (p.Gln998Pro) | dbSNP |
| 20 | g.51784308T= | CA2369155208 | SALL4 | c.3119A= (p.Gln1040=) c.788A= (p.Gln263=) c.1808A= (p.Gln603=) c.2813A= (p.Gln938=) c.2993A= (p.Gln998=) | |
| 20 | g.51784309G>A | CA409005640 | SALL4 | c.3118C>T (p.Gln1040Ter) c.787C>T (p.Gln263Ter) c.1807C>T (p.Gln603Ter) c.2812C>T (p.Gln938Ter) c.2992C>T (p.Gln998Ter) | |
| 20 | g.51784309G>C | CA409005641 | SALL4 | c.3118C>G (p.Gln1040Glu) c.787C>G (p.Gln263Glu) c.1807C>G (p.Gln603Glu) c.2812C>G (p.Gln938Glu) c.2992C>G (p.Gln998Glu) | |
| 20 | g.51784309G>T | CA409005642 | SALL4 | c.3118C>A (p.Gln1040Lys) c.787C>A (p.Gln263Lys) c.1807C>A (p.Gln603Lys) c.2812C>A (p.Gln938Lys) c.2992C>A (p.Gln998Lys) | |
| 20 | g.51784310G>A | CA511025562 | SALL4 | c.3117C>T (p.His1039=) c.786C>T (p.His262=) c.1806C>T (p.His602=) c.2811C>T (p.His937=) c.2991C>T (p.His997=) | gnomAD v4 |
| 20 | g.51784310G>C | CA409005643 | SALL4 | c.3117C>G (p.His1039Gln) c.786C>G (p.His262Gln) c.1806C>G (p.His602Gln) c.2811C>G (p.His937Gln) c.2991C>G (p.His997Gln) | |
| 20 | g.51784310G>T | CA409005644 | SALL4 | c.3117C>A (p.His1039Gln) c.786C>A (p.His262Gln) c.1806C>A (p.His602Gln) c.2811C>A (p.His937Gln) c.2991C>A (p.His997Gln) | |
| 20 | g.51784311T>A | CA409005645 | SALL4 | c.3116A>T (p.His1039Leu) c.785A>T (p.His262Leu) c.1805A>T (p.His602Leu) c.2810A>T (p.His937Leu) c.2990A>T (p.His997Leu) | |
| 20 | g.51784311T>C | CA409005646 | SALL4 | c.3116A>G (p.His1039Arg) c.785A>G (p.His262Arg) c.1805A>G (p.His602Arg) c.2810A>G (p.His937Arg) c.2990A>G (p.His997Arg) | |
| 20 | g.51784311T>G | CA409005647 | SALL4 | c.3116A>C (p.His1039Pro) c.785A>C (p.His262Pro) c.1805A>C (p.His602Pro) c.2810A>C (p.His937Pro) c.2990A>C (p.His997Pro) | |
| 20 | g.51784312G>A | CA409005650 | SALL4 | c.3115C>T (p.His1039Tyr) c.784C>T (p.His262Tyr) c.1804C>T (p.His602Tyr) c.2809C>T (p.His937Tyr) c.2989C>T (p.His997Tyr) | gnomAD v4 |
| 20 | g.51784312G>C | CA409005648 | SALL4 | c.3115C>G (p.His1039Asp) c.784C>G (p.His262Asp) c.1804C>G (p.His602Asp) c.2809C>G (p.His937Asp) c.2989C>G (p.His997Asp) | |
| 20 | g.51784312G>T | CA409005649 | SALL4 | c.3115C>A (p.His1039Asn) c.784C>A (p.His262Asn) c.1804C>A (p.His602Asn) c.2809C>A (p.His937Asn) c.2989C>A (p.His997Asn) | |
| 20 | g.51784313T>A | CA409005651 | SALL4 | c.3114A>T (p.Lys1038Asn) c.783A>T (p.Lys261Asn) c.1803A>T (p.Lys601Asn) c.2808A>T (p.Lys936Asn) c.2988A>T (p.Lys996Asn) | |
| 20 | g.51784313T>C | CA511025569 | SALL4 | c.3114A>G (p.Lys1038=) c.783A>G (p.Lys261=) c.1803A>G (p.Lys601=) c.2808A>G (p.Lys936=) c.2988A>G (p.Lys996=) | dbSNP |
| 20 | g.51784313T>G | CA409005652 | SALL4 | c.3114A>C (p.Lys1038Asn) c.783A>C (p.Lys261Asn) c.1803A>C (p.Lys601Asn) c.2808A>C (p.Lys936Asn) c.2988A>C (p.Lys996Asn) | |
| 20 | g.51784313T= | CA2369155209 | SALL4 | c.3114A= (p.Lys1038=) c.783A= (p.Lys261=) c.1803A= (p.Lys601=) c.2808A= (p.Lys936=) c.2988A= (p.Lys996=) | |
| 20 | g.51784314T>A | CA409005653 | SALL4 | c.3113A>T (p.Lys1038Ile) c.782A>T (p.Lys261Ile) c.1802A>T (p.Lys601Ile) c.2807A>T (p.Lys936Ile) c.2987A>T (p.Lys996Ile) | |
| 20 | g.51784314T>C | CA409005654 | SALL4 | c.3113A>G (p.Lys1038Arg) c.782A>G (p.Lys261Arg) c.1802A>G (p.Lys601Arg) c.2807A>G (p.Lys936Arg) c.2987A>G (p.Lys996Arg) | gnomAD v4 |
| 20 | g.51784314T>G | CA409005655 | SALL4 | c.3113A>C (p.Lys1038Thr) c.782A>C (p.Lys261Thr) c.1802A>C (p.Lys601Thr) c.2807A>C (p.Lys936Thr) c.2987A>C (p.Lys996Thr) | |
| 20 | g.51784315T>A | CA409005656 | SALL4 | c.3112A>T (p.Lys1038Ter) c.781A>T (p.Lys261Ter) c.1801A>T (p.Lys601Ter) c.2806A>T (p.Lys936Ter) c.2986A>T (p.Lys996Ter) | |
| 20 | g.51784315T>C | CA409005657 | SALL4 | c.3112A>G (p.Lys1038Glu) c.781A>G (p.Lys261Glu) c.1801A>G (p.Lys601Glu) c.2806A>G (p.Lys936Glu) c.2986A>G (p.Lys996Glu) | |
| 20 | g.51784315T>G | CA409005658 | SALL4 | c.3112A>C (p.Lys1038Gln) c.781A>C (p.Lys261Gln) c.1801A>C (p.Lys601Gln) c.2806A>C (p.Lys936Gln) c.2986A>C (p.Lys996Gln) | gnomAD v4 |
| 20 | g.51784316G>A | CA511025574 | SALL4 | c.3111C>T (p.Pro1037=) c.780C>T (p.Pro260=) c.1800C>T (p.Pro600=) c.2805C>T (p.Pro935=) c.2985C>T (p.Pro995=) | dbSNP |
| 20 | g.51784316G>C | CA511025576 | SALL4 | c.3111C>G (p.Pro1037=) c.780C>G (p.Pro260=) c.1800C>G (p.Pro600=) c.2805C>G (p.Pro935=) c.2985C>G (p.Pro995=) | |
| 20 | g.51784316G= | CA2369155210 | SALL4 | c.3111C= (p.Pro1037=) c.780C= (p.Pro260=) c.1800C= (p.Pro600=) c.2805C= (p.Pro935=) c.2985C= (p.Pro995=) | |
| 20 | g.51784316G>T | CA511025578 | SALL4 | c.3111C>A (p.Pro1037=) c.780C>A (p.Pro260=) c.1800C>A (p.Pro600=) c.2805C>A (p.Pro935=) c.2985C>A (p.Pro995=) | |
| 20 | g.51784317G>A | CA409005659 | SALL4 | c.3110C>T (p.Pro1037Leu) c.779C>T (p.Pro260Leu) c.1799C>T (p.Pro600Leu) c.2804C>T (p.Pro935Leu) c.2984C>T (p.Pro995Leu) | COSMIC |
| 20 | g.51784317G>C | CA409005660 | SALL4 | c.3110C>G (p.Pro1037Arg) c.779C>G (p.Pro260Arg) c.1799C>G (p.Pro600Arg) c.2804C>G (p.Pro935Arg) c.2984C>G (p.Pro995Arg) | gnomAD v4 |
| 20 | g.51784317G>T | CA409005661 | SALL4 | c.3110C>A (p.Pro1037His) c.779C>A (p.Pro260His) c.1799C>A (p.Pro600His) c.2804C>A (p.Pro935His) c.2984C>A (p.Pro995His) | |
| 20 | g.51784318G>A | CA315365632 | SALL4 | c.3109C>T (p.Pro1037Ser) c.778C>T (p.Pro260Ser) c.1798C>T (p.Pro600Ser) c.2803C>T (p.Pro935Ser) c.2983C>T (p.Pro995Ser) | dbSNP |
| 20 | g.51784318G>C | CA409005663 | SALL4 | c.3109C>G (p.Pro1037Ala) c.778C>G (p.Pro260Ala) c.1798C>G (p.Pro600Ala) c.2803C>G (p.Pro935Ala) c.2983C>G (p.Pro995Ala) | |
| 20 | g.51784318G= | CA2369155211 | SALL4 | c.3109C= (p.Pro1037=) c.778C= (p.Pro260=) c.1798C= (p.Pro600=) c.2803C= (p.Pro935=) c.2983C= (p.Pro995=) | |
| 20 | g.51784318G>T | CA409005662 | SALL4 | c.3109C>A (p.Pro1037Thr) c.778C>A (p.Pro260Thr) c.1798C>A (p.Pro600Thr) c.2803C>A (p.Pro935Thr) c.2983C>A (p.Pro995Thr) | gnomAD v4 |
| 20 | g.51784319A>C | CA511025587 | SALL4 | c.3108T>G (p.Val1036=) c.777T>G (p.Val259=) c.1797T>G (p.Val599=) c.2802T>G (p.Val934=) c.2982T>G (p.Val994=) | |
| 20 | g.51784319A>G | CA511025589 | SALL4 | c.3108T>C (p.Val1036=) c.777T>C (p.Val259=) c.1797T>C (p.Val599=) c.2802T>C (p.Val934=) c.2982T>C (p.Val994=) | |
| 20 | g.51784319A>T | CA511025588 | SALL4 | c.3108T>A (p.Val1036=) c.777T>A (p.Val259=) c.1797T>A (p.Val599=) c.2802T>A (p.Val934=) c.2982T>A (p.Val994=) | |
| 20 | g.51784320A>C | CA409005664 | SALL4 | c.3107T>G (p.Val1036Gly) c.776T>G (p.Val259Gly) c.1796T>G (p.Val599Gly) c.2801T>G (p.Val934Gly) c.2981T>G (p.Val994Gly) | |
| 20 | g.51784320A>G | CA409005665 | SALL4 | c.3107T>C (p.Val1036Ala) c.776T>C (p.Val259Ala) c.1796T>C (p.Val599Ala) c.2801T>C (p.Val934Ala) c.2981T>C (p.Val994Ala) | |
| 20 | g.51784320A>T | CA409005666 | SALL4 | c.3107T>A (p.Val1036Asp) c.776T>A (p.Val259Asp) c.1796T>A (p.Val599Asp) c.2801T>A (p.Val934Asp) c.2981T>A (p.Val994Asp) | |
| 20 | g.51784321C>A | CA409005667 | SALL4 | c.3106G>T (p.Val1036Phe) c.775G>T (p.Val259Phe) c.1795G>T (p.Val599Phe) c.2800G>T (p.Val934Phe) c.2980G>T (p.Val994Phe) | |
| 20 | g.51784321C= | CA2369155212 | SALL4 | c.3106G= (p.Val1036=) c.775G= (p.Val259=) c.1795G= (p.Val599=) c.2800G= (p.Val934=) c.2980G= (p.Val994=) | |
| 20 | g.51784321C>G | CA409005668 | SALL4 | c.3106G>C (p.Val1036Leu) c.775G>C (p.Val259Leu) c.1795G>C (p.Val599Leu) c.2800G>C (p.Val934Leu) c.2980G>C (p.Val994Leu) | |
| 20 | g.51784321C>T | CA9911916 | SALL4 | c.3106G>A (p.Val1036Ile) c.775G>A (p.Val259Ile) c.1795G>A (p.Val599Ile) c.2800G>A (p.Val934Ile) c.2980G>A (p.Val994Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784322G>A | CA9911917 | SALL4 | c.3105C>T (p.Gly1035=) c.774C>T (p.Gly258=) c.1794C>T (p.Gly598=) c.2799C>T (p.Gly933=) c.2979C>T (p.Gly993=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784322G>C | CA9911918 | SALL4 | c.3105C>G (p.Gly1035=) c.774C>G (p.Gly258=) c.1794C>G (p.Gly598=) c.2799C>G (p.Gly933=) c.2979C>G (p.Gly993=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784322G= | CA2369155213 | SALL4 | c.3105C= (p.Gly1035=) c.774C= (p.Gly258=) c.1794C= (p.Gly598=) c.2799C= (p.Gly933=) c.2979C= (p.Gly993=) | |
| 20 | g.51784322G>T | CA511025598 | SALL4 | c.3105C>A (p.Gly1035=) c.774C>A (p.Gly258=) c.1794C>A (p.Gly598=) c.2799C>A (p.Gly933=) c.2979C>A (p.Gly993=) | |
| 20 | g.51784323C>A | CA409005669 | SALL4 | c.3104G>T (p.Gly1035Val) c.773G>T (p.Gly258Val) c.1793G>T (p.Gly598Val) c.2798G>T (p.Gly933Val) c.2978G>T (p.Gly993Val) | |
| 20 | g.51784323C= | CA2369155214 | SALL4 | c.3104G= (p.Gly1035=) c.773G= (p.Gly258=) c.1793G= (p.Gly598=) c.2798G= (p.Gly933=) c.2978G= (p.Gly993=) | |
| 20 | g.51784323C>G | CA409005670 | SALL4 | c.3104G>C (p.Gly1035Ala) c.773G>C (p.Gly258Ala) c.1793G>C (p.Gly598Ala) c.2798G>C (p.Gly933Ala) c.2978G>C (p.Gly993Ala) | |
| 20 | g.51784323C>T | CA409005671 | SALL4 | c.3104G>A (p.Gly1035Asp) c.773G>A (p.Gly258Asp) c.1793G>A (p.Gly598Asp) c.2798G>A (p.Gly933Asp) c.2978G>A (p.Gly993Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784324C>A | CA409005672 | SALL4 | c.3103G>T (p.Gly1035Cys) c.772G>T (p.Gly258Cys) c.1792G>T (p.Gly598Cys) c.2797G>T (p.Gly933Cys) c.2977G>T (p.Gly993Cys) | gnomAD v4 |
| 20 | g.51784324C= | CA2369155215 | SALL4 | c.3103G= (p.Gly1035=) c.772G= (p.Gly258=) c.1792G= (p.Gly598=) c.2797G= (p.Gly933=) c.2977G= (p.Gly993=) | |
| 20 | g.51784324C>G | CA409005673 | SALL4 | c.3103G>C (p.Gly1035Arg) c.772G>C (p.Gly258Arg) c.1792G>C (p.Gly598Arg) c.2797G>C (p.Gly933Arg) c.2977G>C (p.Gly993Arg) | gnomAD v4 |
| 20 | g.51784324C>T | CA9911919 | SALL4 | c.3103G>A (p.Gly1035Ser) c.772G>A (p.Gly258Ser) c.1792G>A (p.Gly598Ser) c.2797G>A (p.Gly933Ser) c.2977G>A (p.Gly993Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784325G>A | CA9911920 | SALL4 | c.3102C>T (p.Asp1034=) c.771C>T (p.Asp257=) c.1791C>T (p.Asp597=) c.2796C>T (p.Asp932=) c.2976C>T (p.Asp992=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784325G>C | CA409005675 | SALL4 | c.3102C>G (p.Asp1034Glu) c.771C>G (p.Asp257Glu) c.1791C>G (p.Asp597Glu) c.2796C>G (p.Asp932Glu) c.2976C>G (p.Asp992Glu) | dbSNP |
| 20 | g.51784325G= | CA2369155216 | SALL4 | c.3102C= (p.Asp1034=) c.771C= (p.Asp257=) c.1791C= (p.Asp597=) c.2796C= (p.Asp932=) c.2976C= (p.Asp992=) | |
| 20 | g.51784325G>T | CA409005674 | SALL4 | c.3102C>A (p.Asp1034Glu) c.771C>A (p.Asp257Glu) c.1791C>A (p.Asp597Glu) c.2796C>A (p.Asp932Glu) c.2976C>A (p.Asp992Glu) | |
| 20 | g.51784326T>A | CA409005676 | SALL4 | c.3101A>T (p.Asp1034Val) c.770A>T (p.Asp257Val) c.1790A>T (p.Asp597Val) c.2795A>T (p.Asp932Val) c.2975A>T (p.Asp992Val) | |
| 20 | g.51784326T>C | CA409005677 | SALL4 | c.3101A>G (p.Asp1034Gly) c.770A>G (p.Asp257Gly) c.1790A>G (p.Asp597Gly) c.2795A>G (p.Asp932Gly) c.2975A>G (p.Asp992Gly) | |
| 20 | g.51784326T>G | CA409005678 | SALL4 | c.3101A>C (p.Asp1034Ala) c.770A>C (p.Asp257Ala) c.1790A>C (p.Asp597Ala) c.2795A>C (p.Asp932Ala) c.2975A>C (p.Asp992Ala) | |
| 20 | g.51784327C>A | CA409005679 | SALL4 | c.3100G>T (p.Asp1034Tyr) c.769G>T (p.Asp257Tyr) c.1789G>T (p.Asp597Tyr) c.2794G>T (p.Asp932Tyr) c.2974G>T (p.Asp992Tyr) | |
| 20 | g.51784327C= | CA2369155217 | SALL4 | c.3100G= (p.Asp1034=) c.769G= (p.Asp257=) c.1789G= (p.Asp597=) c.2794G= (p.Asp932=) c.2974G= (p.Asp992=) | |
| 20 | g.51784327C>G | CA409005680 | SALL4 | c.3100G>C (p.Asp1034His) c.769G>C (p.Asp257His) c.1789G>C (p.Asp597His) c.2794G>C (p.Asp932His) c.2974G>C (p.Asp992His) | |
| 20 | g.51784327C>T | CA409005681 | SALL4 | c.3100G>A (p.Asp1034Asn) c.769G>A (p.Asp257Asn) c.1789G>A (p.Asp597Asn) c.2794G>A (p.Asp932Asn) c.2974G>A (p.Asp992Asn) | |
| 20 | g.51784328A>C | CA511025610 | SALL4 | c.3099T>G (p.Thr1033=) c.768T>G (p.Thr256=) c.1788T>G (p.Thr596=) c.2793T>G (p.Thr931=) c.2973T>G (p.Thr991=) | |
| 20 | g.51784328A>G | CA511025611 | SALL4 | c.3099T>C (p.Thr1033=) c.768T>C (p.Thr256=) c.1788T>C (p.Thr596=) c.2793T>C (p.Thr931=) c.2973T>C (p.Thr991=) | |
| 20 | g.51784328A>T | CA511025612 | SALL4 | c.3099T>A (p.Thr1033=) c.768T>A (p.Thr256=) c.1788T>A (p.Thr596=) c.2793T>A (p.Thr931=) c.2973T>A (p.Thr991=) | |
| 20 | g.51784328dup | CA2369155218 | SALL4 | c.3099dup (p.Asp1034Ter) c.768dup (p.Asp257Ter) c.1788dup (p.Asp597Ter) c.2793dup (p.Asp932Ter) c.2973dup (p.Asp992Ter) | dbSNP |
| 20 | g.51784329G>A | CA315365687 | SALL4 | c.3098C>T (p.Thr1033Ile) c.767C>T (p.Thr256Ile) c.1787C>T (p.Thr596Ile) c.2792C>T (p.Thr931Ile) c.2972C>T (p.Thr991Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784329G>C | CA409005682 | SALL4 | c.3098C>G (p.Thr1033Ser) c.767C>G (p.Thr256Ser) c.1787C>G (p.Thr596Ser) c.2792C>G (p.Thr931Ser) c.2972C>G (p.Thr991Ser) | |
| 20 | g.51784329G= | CA2369155219 | SALL4 | c.3098C= (p.Thr1033=) c.767C= (p.Thr256=) c.1787C= (p.Thr596=) c.2792C= (p.Thr931=) c.2972C= (p.Thr991=) | |
| 20 | g.51784329G>T | CA409005683 | SALL4 | c.3098C>A (p.Thr1033Asn) c.767C>A (p.Thr256Asn) c.1787C>A (p.Thr596Asn) c.2792C>A (p.Thr931Asn) c.2972C>A (p.Thr991Asn) | |
| 20 | g.51784330T>A | CA409005684 | SALL4 | c.3097A>T (p.Thr1033Ser) c.766A>T (p.Thr256Ser) c.1786A>T (p.Thr596Ser) c.2791A>T (p.Thr931Ser) c.2971A>T (p.Thr991Ser) | |
| 20 | g.51784330T>C | CA315365693 | SALL4 | c.3097A>G (p.Thr1033Ala) c.766A>G (p.Thr256Ala) c.1786A>G (p.Thr596Ala) c.2791A>G (p.Thr931Ala) c.2971A>G (p.Thr991Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784330T>G | CA409005685 | SALL4 | c.3097A>C (p.Thr1033Pro) c.766A>C (p.Thr256Pro) c.1786A>C (p.Thr596Pro) c.2791A>C (p.Thr931Pro) c.2971A>C (p.Thr991Pro) | |
| 20 | g.51784330T= | CA2369155220 | SALL4 | c.3097A= (p.Thr1033=) c.766A= (p.Thr256=) c.1786A= (p.Thr596=) c.2791A= (p.Thr931=) c.2971A= (p.Thr991=) | |
| 20 | g.51784331A= | CA2369155221 | SALL4 | c.3096T= (p.Ala1032=) c.765T= (p.Ala255=) c.1785T= (p.Ala595=) c.2790T= (p.Ala930=) c.2970T= (p.Ala990=) | |
| 20 | g.51784331A>C | CA511025616 | SALL4 | c.3096T>G (p.Ala1032=) c.765T>G (p.Ala255=) c.1785T>G (p.Ala595=) c.2790T>G (p.Ala930=) c.2970T>G (p.Ala990=) | |
| 20 | g.51784331A>G | CA9911921 | SALL4 | c.3096T>C (p.Ala1032=) c.765T>C (p.Ala255=) c.1785T>C (p.Ala595=) c.2790T>C (p.Ala930=) c.2970T>C (p.Ala990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784331A>T | CA511025617 | SALL4 | c.3096T>A (p.Ala1032=) c.765T>A (p.Ala255=) c.1785T>A (p.Ala595=) c.2790T>A (p.Ala930=) c.2970T>A (p.Ala990=) | |
| 20 | g.51784332G>A | CA409005687 | SALL4 | c.3095C>T (p.Ala1032Val) c.764C>T (p.Ala255Val) c.1784C>T (p.Ala595Val) c.2789C>T (p.Ala930Val) c.2969C>T (p.Ala990Val) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784332G>C | CA409005686 | SALL4 | c.3095C>G (p.Ala1032Gly) c.764C>G (p.Ala255Gly) c.1784C>G (p.Ala595Gly) c.2789C>G (p.Ala930Gly) c.2969C>G (p.Ala990Gly) | |
| 20 | g.51784332G= | CA2369155222 | SALL4 | c.3095C= (p.Ala1032=) c.764C= (p.Ala255=) c.1784C= (p.Ala595=) c.2789C= (p.Ala930=) c.2969C= (p.Ala990=) | |
| 20 | g.51784332G>T | CA409005688 | SALL4 | c.3095C>A (p.Ala1032Asp) c.764C>A (p.Ala255Asp) c.1784C>A (p.Ala595Asp) c.2789C>A (p.Ala930Asp) c.2969C>A (p.Ala990Asp) | |
| 20 | g.51784333C>A | CA409005689 | SALL4 | c.3094G>T (p.Ala1032Ser) c.763G>T (p.Ala255Ser) c.1783G>T (p.Ala595Ser) c.2788G>T (p.Ala930Ser) c.2968G>T (p.Ala990Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784333C= | CA2369155223 | SALL4 | c.3094G= (p.Ala1032=) c.763G= (p.Ala255=) c.1783G= (p.Ala595=) c.2788G= (p.Ala930=) c.2968G= (p.Ala990=) | |
| 20 | g.51784333C>G | CA409005691 | SALL4 | c.3094G>C (p.Ala1032Pro) c.763G>C (p.Ala255Pro) c.1783G>C (p.Ala595Pro) c.2788G>C (p.Ala930Pro) c.2968G>C (p.Ala990Pro) | |
| 20 | g.51784333C>T | CA409005690 | SALL4 | c.3094G>A (p.Ala1032Thr) c.763G>A (p.Ala255Thr) c.1783G>A (p.Ala595Thr) c.2788G>A (p.Ala930Thr) c.2968G>A (p.Ala990Thr) | gnomAD v4 |
| 20 | g.51784334A= | CA2369155224 | SALL4 | c.3093T= (p.Ser1031=) c.762T= (p.Ser254=) c.1782T= (p.Ser594=) c.2787T= (p.Ser929=) c.2967T= (p.Ser989=) | |
| 20 | g.51784334A>C | CA409005692 | SALL4 | c.3093T>G (p.Ser1031Arg) c.762T>G (p.Ser254Arg) c.1782T>G (p.Ser594Arg) c.2787T>G (p.Ser929Arg) c.2967T>G (p.Ser989Arg) | dbSNP gnomAD v4 |
| 20 | g.51784334A>G | CA511025621 | SALL4 | c.3093T>C (p.Ser1031=) c.762T>C (p.Ser254=) c.1782T>C (p.Ser594=) c.2787T>C (p.Ser929=) c.2967T>C (p.Ser989=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784334A>T | CA409005693 | SALL4 | c.3093T>A (p.Ser1031Arg) c.762T>A (p.Ser254Arg) c.1782T>A (p.Ser594Arg) c.2787T>A (p.Ser929Arg) c.2967T>A (p.Ser989Arg) | gnomAD v4 |
| 20 | g.51784335C>A | CA409005694 | SALL4 | c.3092G>T (p.Ser1031Ile) c.761G>T (p.Ser254Ile) c.1781G>T (p.Ser594Ile) c.2786G>T (p.Ser929Ile) c.2966G>T (p.Ser989Ile) | |
| 20 | g.51784335C>G | CA409005695 | SALL4 | c.3092G>C (p.Ser1031Thr) c.761G>C (p.Ser254Thr) c.1781G>C (p.Ser594Thr) c.2786G>C (p.Ser929Thr) c.2966G>C (p.Ser989Thr) | |
| 20 | g.51784335C>T | CA409005696 | SALL4 | c.3092G>A (p.Ser1031Asn) c.761G>A (p.Ser254Asn) c.1781G>A (p.Ser594Asn) c.2786G>A (p.Ser929Asn) c.2966G>A (p.Ser989Asn) | |
| 20 | g.51784336T>A | CA409005697 | SALL4 | c.3091A>T (p.Ser1031Cys) c.760A>T (p.Ser254Cys) c.1780A>T (p.Ser594Cys) c.2785A>T (p.Ser929Cys) c.2965A>T (p.Ser989Cys) | |
| 20 | g.51784336T>C | CA409005698 | SALL4 | c.3091A>G (p.Ser1031Gly) c.760A>G (p.Ser254Gly) c.1780A>G (p.Ser594Gly) c.2785A>G (p.Ser929Gly) c.2965A>G (p.Ser989Gly) | gnomAD v4 |
| 20 | g.51784336T>G | CA409005699 | SALL4 | c.3091A>C (p.Ser1031Arg) c.760A>C (p.Ser254Arg) c.1780A>C (p.Ser594Arg) c.2785A>C (p.Ser929Arg) c.2965A>C (p.Ser989Arg) | |
| 20 | g.51784337T>A | CA511025624 | SALL4 | c.3090A>T (p.Pro1030=) c.759A>T (p.Pro253=) c.1779A>T (p.Pro593=) c.2784A>T (p.Pro928=) c.2964A>T (p.Pro988=) | |
| 20 | g.51784337T>C | CA511025625 | SALL4 | c.3090A>G (p.Pro1030=) c.759A>G (p.Pro253=) c.1779A>G (p.Pro593=) c.2784A>G (p.Pro928=) c.2964A>G (p.Pro988=) | |
| 20 | g.51784337T>G | CA511025626 | SALL4 | c.3090A>C (p.Pro1030=) c.759A>C (p.Pro253=) c.1779A>C (p.Pro593=) c.2784A>C (p.Pro928=) c.2964A>C (p.Pro988=) | |
| 20 | g.51784338G>A | CA409005700 | SALL4 | c.3089C>T (p.Pro1030Leu) c.758C>T (p.Pro253Leu) c.1778C>T (p.Pro593Leu) c.2783C>T (p.Pro928Leu) c.2963C>T (p.Pro988Leu) | |
| 20 | g.51784338G>C | CA409005701 | SALL4 | c.3089C>G (p.Pro1030Arg) c.758C>G (p.Pro253Arg) c.1778C>G (p.Pro593Arg) c.2783C>G (p.Pro928Arg) c.2963C>G (p.Pro988Arg) | |
| 20 | g.51784338G>T | CA409005702 | SALL4 | c.3089C>A (p.Pro1030Gln) c.758C>A (p.Pro253Gln) c.1778C>A (p.Pro593Gln) c.2783C>A (p.Pro928Gln) c.2963C>A (p.Pro988Gln) | |
| 20 | g.51784339dup | CA2653358750 | SALL4 | c.3089dup (p.Ser1031LysfsTer4) c.758dup (p.Ser254LysfsTer4) c.1778dup (p.Ser594LysfsTer4) c.2783dup (p.Ser929LysfsTer4) c.2963dup (p.Ser989LysfsTer4) | gnomAD v4 |
| 20 | g.51784339G>A | CA409005705 | SALL4 | c.3088C>T (p.Pro1030Ser) c.757C>T (p.Pro253Ser) c.1777C>T (p.Pro593Ser) c.2782C>T (p.Pro928Ser) c.2962C>T (p.Pro988Ser) | |
| 20 | g.51784339G>C | CA409005703 | SALL4 | c.3088C>G (p.Pro1030Ala) c.757C>G (p.Pro253Ala) c.1777C>G (p.Pro593Ala) c.2782C>G (p.Pro928Ala) c.2962C>G (p.Pro988Ala) | |
| 20 | g.51784339G>T | CA409005704 | SALL4 | c.3088C>A (p.Pro1030Thr) c.757C>A (p.Pro253Thr) c.1777C>A (p.Pro593Thr) c.2782C>A (p.Pro928Thr) c.2962C>A (p.Pro988Thr) | |
| 20 | g.51784340T>A | CA409005706 | SALL4 | c.3087A>T (p.Lys1029Asn) c.756A>T (p.Lys252Asn) c.1776A>T (p.Lys592Asn) c.2781A>T (p.Lys927Asn) c.2961A>T (p.Lys987Asn) | |
| 20 | g.51784340T>C | CA511025628 | SALL4 | c.3087A>G (p.Lys1029=) c.756A>G (p.Lys252=) c.1776A>G (p.Lys592=) c.2781A>G (p.Lys927=) c.2961A>G (p.Lys987=) | |
| 20 | g.51784340T>G | CA9911922 | SALL4 | c.3087A>C (p.Lys1029Asn) c.756A>C (p.Lys252Asn) c.1776A>C (p.Lys592Asn) c.2781A>C (p.Lys927Asn) c.2961A>C (p.Lys987Asn) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784340T= | CA2369155225 | SALL4 | c.3087A= (p.Lys1029=) c.756A= (p.Lys252=) c.1776A= (p.Lys592=) c.2781A= (p.Lys927=) c.2961A= (p.Lys987=) | |
| 20 | g.51784341T>A | CA409005707 | SALL4 | c.3086A>T (p.Lys1029Ile) c.755A>T (p.Lys252Ile) c.1775A>T (p.Lys592Ile) c.2780A>T (p.Lys927Ile) c.2960A>T (p.Lys987Ile) | |
| 20 | g.51784341T>C | CA409005708 | SALL4 | c.3086A>G (p.Lys1029Arg) c.755A>G (p.Lys252Arg) c.1775A>G (p.Lys592Arg) c.2780A>G (p.Lys927Arg) c.2960A>G (p.Lys987Arg) | |
| 20 | g.51784341T>G | CA409005709 | SALL4 | c.3086A>C (p.Lys1029Thr) c.755A>C (p.Lys252Thr) c.1775A>C (p.Lys592Thr) c.2780A>C (p.Lys927Thr) c.2960A>C (p.Lys987Thr) | |
| 20 | g.51784342T>A | CA409005710 | SALL4 | c.3085A>T (p.Lys1029Ter) c.754A>T (p.Lys252Ter) c.1774A>T (p.Lys592Ter) c.2779A>T (p.Lys927Ter) c.2959A>T (p.Lys987Ter) | |
| 20 | g.51784342T>C | CA409005711 | SALL4 | c.3085A>G (p.Lys1029Glu) c.754A>G (p.Lys252Glu) c.1774A>G (p.Lys592Glu) c.2779A>G (p.Lys927Glu) c.2959A>G (p.Lys987Glu) | gnomAD v4 |
| 20 | g.51784342T>G | CA409005712 | SALL4 | c.3085A>C (p.Lys1029Gln) c.754A>C (p.Lys252Gln) c.1774A>C (p.Lys592Gln) c.2779A>C (p.Lys927Gln) c.2959A>C (p.Lys987Gln) | |
| 20 | g.51784343T>A | CA409005713 | SALL4 | c.3084A>T (p.Glu1028Asp) c.753A>T (p.Glu251Asp) c.1773A>T (p.Glu591Asp) c.2778A>T (p.Glu926Asp) c.2958A>T (p.Glu986Asp) | |
| 20 | g.51784343T>C | CA511025630 | SALL4 | c.3084A>G (p.Glu1028=) c.753A>G (p.Glu251=) c.1773A>G (p.Glu591=) c.2778A>G (p.Glu926=) c.2958A>G (p.Glu986=) | gnomAD v4 |
| 20 | g.51784343T>G | CA409005714 | SALL4 | c.3084A>C (p.Glu1028Asp) c.753A>C (p.Glu251Asp) c.1773A>C (p.Glu591Asp) c.2778A>C (p.Glu926Asp) c.2958A>C (p.Glu986Asp) | |
| 20 | g.51784344T>A | CA409005716 | SALL4 | c.3083A>T (p.Glu1028Val) c.752A>T (p.Glu251Val) c.1772A>T (p.Glu591Val) c.2777A>T (p.Glu926Val) c.2957A>T (p.Glu986Val) | |
| 20 | g.51784344T>C | CA315365717 | SALL4 | c.3083A>G (p.Glu1028Gly) c.752A>G (p.Glu251Gly) c.1772A>G (p.Glu591Gly) c.2777A>G (p.Glu926Gly) c.2957A>G (p.Glu986Gly) | dbSNP gnomAD v4 |
| 20 | g.51784344T>G | CA409005715 | SALL4 | c.3083A>C (p.Glu1028Ala) c.752A>C (p.Glu251Ala) c.1772A>C (p.Glu591Ala) c.2777A>C (p.Glu926Ala) c.2957A>C (p.Glu986Ala) | |
| 20 | g.51784344T= | CA2369155226 | SALL4 | c.3083A= (p.Glu1028=) c.752A= (p.Glu251=) c.1772A= (p.Glu591=) c.2777A= (p.Glu926=) c.2957A= (p.Glu986=) | |
| 20 | g.51784345C>A | CA409005717 | SALL4 | c.3082G>T (p.Glu1028Ter) c.751G>T (p.Glu251Ter) c.1771G>T (p.Glu591Ter) c.2776G>T (p.Glu926Ter) c.2956G>T (p.Glu986Ter) | COSMIC |
| 20 | g.51784345C= | CA2369155227 | SALL4 | c.3082G= (p.Glu1028=) c.751G= (p.Glu251=) c.1771G= (p.Glu591=) c.2776G= (p.Glu926=) c.2956G= (p.Glu986=) | |
| 20 | g.51784345C>G | CA9911923 | SALL4 | c.3082G>C (p.Glu1028Gln) c.751G>C (p.Glu251Gln) c.1771G>C (p.Glu591Gln) c.2776G>C (p.Glu926Gln) c.2956G>C (p.Glu986Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784345C>T | CA315365740 | SALL4 | c.3082G>A (p.Glu1028Lys) c.751G>A (p.Glu251Lys) c.1771G>A (p.Glu591Lys) c.2776G>A (p.Glu926Lys) c.2956G>A (p.Glu986Lys) | dbSNP gnomAD v4 |
| 20 | g.51784346C>A | CA511025634 | SALL4 | c.3081G>T (p.Val1027=) c.750G>T (p.Val250=) c.1770G>T (p.Val590=) c.2775G>T (p.Val925=) c.2955G>T (p.Val985=) | |
| 20 | g.51784346C= | CA2369155228 | SALL4 | c.3081G= (p.Val1027=) c.750G= (p.Val250=) c.1770G= (p.Val590=) c.2775G= (p.Val925=) c.2955G= (p.Val985=) | |
| 20 | g.51784346C>G | CA9911925 | SALL4 | c.3081G>C (p.Val1027=) c.750G>C (p.Val250=) c.1770G>C (p.Val590=) c.2775G>C (p.Val925=) c.2955G>C (p.Val985=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784346C>T | CA9911924 | SALL4 | c.3081G>A (p.Val1027=) c.750G>A (p.Val250=) c.1770G>A (p.Val590=) c.2775G>A (p.Val925=) c.2955G>A (p.Val985=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784347A= | CA2369155229 | SALL4 | c.3080T= (p.Val1027=) c.749T= (p.Val250=) c.1769T= (p.Val590=) c.2774T= (p.Val925=) c.2954T= (p.Val985=) | |
| 20 | g.51784347A>C | CA9911926 | SALL4 | c.3080T>G (p.Val1027Gly) c.749T>G (p.Val250Gly) c.1769T>G (p.Val590Gly) c.2774T>G (p.Val925Gly) c.2954T>G (p.Val985Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784347A>G | CA409005718 | SALL4 | c.3080T>C (p.Val1027Ala) c.749T>C (p.Val250Ala) c.1769T>C (p.Val590Ala) c.2774T>C (p.Val925Ala) c.2954T>C (p.Val985Ala) | COSMIC |
| 20 | g.51784347A>T | CA409005719 | SALL4 | c.3080T>A (p.Val1027Glu) c.749T>A (p.Val250Glu) c.1769T>A (p.Val590Glu) c.2774T>A (p.Val925Glu) c.2954T>A (p.Val985Glu) | |
| 20 | g.51784348C>A | CA409005720 | SALL4 | c.3079G>T (p.Val1027Leu) c.748G>T (p.Val250Leu) c.1768G>T (p.Val590Leu) c.2773G>T (p.Val925Leu) c.2953G>T (p.Val985Leu) | |
| 20 | g.51784348C>G | CA409005721 | SALL4 | c.3079G>C (p.Val1027Leu) c.748G>C (p.Val250Leu) c.1768G>C (p.Val590Leu) c.2773G>C (p.Val925Leu) c.2953G>C (p.Val985Leu) | |
| 20 | g.51784348C>T | CA409005722 | SALL4 | c.3079G>A (p.Val1027Met) c.748G>A (p.Val250Met) c.1768G>A (p.Val590Met) c.2773G>A (p.Val925Met) c.2953G>A (p.Val985Met) | |
| 20 | g.51784349A>C | CA409005723 | SALL4 | c.3078T>G (p.Asp1026Glu) c.747T>G (p.Asp249Glu) c.1767T>G (p.Asp589Glu) c.2772T>G (p.Asp924Glu) c.2952T>G (p.Asp984Glu) | |
| 20 | g.51784349A>G | CA511025637 | SALL4 | c.3078T>C (p.Asp1026=) c.747T>C (p.Asp249=) c.1767T>C (p.Asp589=) c.2772T>C (p.Asp924=) c.2952T>C (p.Asp984=) | gnomAD v4 |
| 20 | g.51784349A>T | CA409005724 | SALL4 | c.3078T>A (p.Asp1026Glu) c.747T>A (p.Asp249Glu) c.1767T>A (p.Asp589Glu) c.2772T>A (p.Asp924Glu) c.2952T>A (p.Asp984Glu) | |
| 20 | g.51784350T>A | CA409005725 | SALL4 | c.3077A>T (p.Asp1026Val) c.746A>T (p.Asp249Val) c.1766A>T (p.Asp589Val) c.2771A>T (p.Asp924Val) c.2951A>T (p.Asp984Val) | |
| 20 | g.51784350T>C | CA409005727 | SALL4 | c.3077A>G (p.Asp1026Gly) c.746A>G (p.Asp249Gly) c.1766A>G (p.Asp589Gly) c.2771A>G (p.Asp924Gly) c.2951A>G (p.Asp984Gly) | |
| 20 | g.51784350T>G | CA409005726 | SALL4 | c.3077A>C (p.Asp1026Ala) c.746A>C (p.Asp249Ala) c.1766A>C (p.Asp589Ala) c.2771A>C (p.Asp924Ala) c.2951A>C (p.Asp984Ala) | |
| 20 | g.51784351C>A | CA409005728 | SALL4 | c.3076G>T (p.Asp1026Tyr) c.745G>T (p.Asp249Tyr) c.1765G>T (p.Asp589Tyr) c.2770G>T (p.Asp924Tyr) c.2950G>T (p.Asp984Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784351C= | CA2369155230 | SALL4 | c.3076G= (p.Asp1026=) c.745G= (p.Asp249=) c.1765G= (p.Asp589=) c.2770G= (p.Asp924=) c.2950G= (p.Asp984=) | |
| 20 | g.51784351C>G | CA409005729 | SALL4 | c.3076G>C (p.Asp1026His) c.745G>C (p.Asp249His) c.1765G>C (p.Asp589His) c.2770G>C (p.Asp924His) c.2950G>C (p.Asp984His) | |
| 20 | g.51784351C>T | CA409005730 | SALL4 | c.3076G>A (p.Asp1026Asn) c.745G>A (p.Asp249Asn) c.1765G>A (p.Asp589Asn) c.2770G>A (p.Asp924Asn) c.2950G>A (p.Asp984Asn) | |
| 20 | g.51784352T>A | CA511025638 | SALL4 | c.3075A>T (p.Ala1025=) c.744A>T (p.Ala248=) c.1764A>T (p.Ala588=) c.2769A>T (p.Ala923=) c.2949A>T (p.Ala983=) | |
| 20 | g.51784352T>C | CA9911927 | SALL4 | c.3075A>G (p.Ala1025=) c.744A>G (p.Ala248=) c.1764A>G (p.Ala588=) c.2769A>G (p.Ala923=) c.2949A>G (p.Ala983=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.51784352T>G | CA511025639 | SALL4 | c.3075A>C (p.Ala1025=) c.744A>C (p.Ala248=) c.1764A>C (p.Ala588=) c.2769A>C (p.Ala923=) c.2949A>C (p.Ala983=) | |
| 20 | g.51784352T= | CA2369155231 | SALL4 | c.3075A= (p.Ala1025=) c.744A= (p.Ala248=) c.1764A= (p.Ala588=) c.2769A= (p.Ala923=) c.2949A= (p.Ala983=) | |
| 20 | g.51784353G>A | CA409005731 | SALL4 | c.3074C>T (p.Ala1025Val) c.743C>T (p.Ala248Val) c.1763C>T (p.Ala588Val) c.2768C>T (p.Ala923Val) c.2948C>T (p.Ala983Val) | |
| 20 | g.51784353G>C | CA409005732 | SALL4 | c.3074C>G (p.Ala1025Gly) c.743C>G (p.Ala248Gly) c.1763C>G (p.Ala588Gly) c.2768C>G (p.Ala923Gly) c.2948C>G (p.Ala983Gly) | |
| 20 | g.51784353G= | CA2369155232 | SALL4 | c.3074C= (p.Ala1025=) c.743C= (p.Ala248=) c.1763C= (p.Ala588=) c.2768C= (p.Ala923=) c.2948C= (p.Ala983=) | |
| 20 | g.51784353G>T | CA409005733 | SALL4 | c.3074C>A (p.Ala1025Glu) c.743C>A (p.Ala248Glu) c.1763C>A (p.Ala588Glu) c.2768C>A (p.Ala923Glu) c.2948C>A (p.Ala983Glu) | dbSNP |
| 20 | g.51784354C>A | CA409005734 | SALL4 | c.3073G>T (p.Ala1025Ser) c.742G>T (p.Ala248Ser) c.1762G>T (p.Ala588Ser) c.2767G>T (p.Ala923Ser) c.2947G>T (p.Ala983Ser) | |
| 20 | g.51784354C>G | CA409005735 | SALL4 | c.3073G>C (p.Ala1025Pro) c.742G>C (p.Ala248Pro) c.1762G>C (p.Ala588Pro) c.2767G>C (p.Ala923Pro) c.2947G>C (p.Ala983Pro) | |
| 20 | g.51784354C>T | CA409005736 | SALL4 | c.3073G>A (p.Ala1025Thr) c.742G>A (p.Ala248Thr) c.1762G>A (p.Ala588Thr) c.2767G>A (p.Ala923Thr) c.2947G>A (p.Ala983Thr) | |
| 20 | g.51784355A= | CA2369155233 | SALL4 | c.3072T= (p.Ser1024=) c.741T= (p.Ser247=) c.1761T= (p.Ser587=) c.2766T= (p.Ser922=) c.2946T= (p.Ser982=) | |
| 20 | g.51784355A>C | CA409005737 | SALL4 | c.3072T>G (p.Ser1024Arg) c.741T>G (p.Ser247Arg) c.1761T>G (p.Ser587Arg) c.2766T>G (p.Ser922Arg) c.2946T>G (p.Ser982Arg) | |
| 20 | g.51784355A>G | CA511025643 | SALL4 | c.3072T>C (p.Ser1024=) c.741T>C (p.Ser247=) c.1761T>C (p.Ser587=) c.2766T>C (p.Ser922=) c.2946T>C (p.Ser982=) | |
| 20 | g.51784355A>T | CA9911928 | SALL4 | c.3072T>A (p.Ser1024Arg) c.741T>A (p.Ser247Arg) c.1761T>A (p.Ser587Arg) c.2766T>A (p.Ser922Arg) c.2946T>A (p.Ser982Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784356C>A | CA315365765 | SALL4 | c.3071G>T (p.Ser1024Ile) c.740G>T (p.Ser247Ile) c.1760G>T (p.Ser587Ile) c.2765G>T (p.Ser922Ile) c.2945G>T (p.Ser982Ile) | dbSNP |
| 20 | g.51784356C= | CA2369155234 | SALL4 | c.3071G= (p.Ser1024=) c.740G= (p.Ser247=) c.1760G= (p.Ser587=) c.2765G= (p.Ser922=) c.2945G= (p.Ser982=) | |
| 20 | g.51784356C>G | CA409005739 | SALL4 | c.3071G>C (p.Ser1024Thr) c.740G>C (p.Ser247Thr) c.1760G>C (p.Ser587Thr) c.2765G>C (p.Ser922Thr) c.2945G>C (p.Ser982Thr) | |
| 20 | g.51784356C>T | CA409005738 | SALL4 | c.3071G>A (p.Ser1024Asn) c.740G>A (p.Ser247Asn) c.1760G>A (p.Ser587Asn) c.2765G>A (p.Ser922Asn) c.2945G>A (p.Ser982Asn) | |
| 20 | g.51784357T>A | CA409005740 | SALL4 | c.3070A>T (p.Ser1024Cys) c.739A>T (p.Ser247Cys) c.1759A>T (p.Ser587Cys) c.2764A>T (p.Ser922Cys) c.2944A>T (p.Ser982Cys) | |
| 20 | g.51784357T>C | CA409005741 | SALL4 | c.3070A>G (p.Ser1024Gly) c.739A>G (p.Ser247Gly) c.1759A>G (p.Ser587Gly) c.2764A>G (p.Ser922Gly) c.2944A>G (p.Ser982Gly) | |
| 20 | g.51784357T>G | CA409005742 | SALL4 | c.3070A>C (p.Ser1024Arg) c.739A>C (p.Ser247Arg) c.1759A>C (p.Ser587Arg) c.2764A>C (p.Ser922Arg) c.2944A>C (p.Ser982Arg) | |
| 20 | g.51784358G>A | CA9911929 | SALL4 | c.3069C>T (p.Ile1023=) c.738C>T (p.Ile246=) c.1758C>T (p.Ile586=) c.2763C>T (p.Ile921=) c.2943C>T (p.Ile981=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784358G>C | CA409005743 | SALL4 | c.3069C>G (p.Ile1023Met) c.738C>G (p.Ile246Met) c.1758C>G (p.Ile586Met) c.2763C>G (p.Ile921Met) c.2943C>G (p.Ile981Met) | |
| 20 | g.51784358G= | CA2369155235 | SALL4 | c.3069C= (p.Ile1023=) c.738C= (p.Ile246=) c.1758C= (p.Ile586=) c.2763C= (p.Ile921=) c.2943C= (p.Ile981=) | |
| 20 | g.51784358G>T | CA9911930 | SALL4 | c.3069C>A (p.Ile1023=) c.738C>A (p.Ile246=) c.1758C>A (p.Ile586=) c.2763C>A (p.Ile921=) c.2943C>A (p.Ile981=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784359A= | CA2369155236 | SALL4 | c.3068T= (p.Ile1023=) c.737T= (p.Ile246=) c.1757T= (p.Ile586=) c.2762T= (p.Ile921=) c.2942T= (p.Ile981=) | |
| 20 | g.51784359A>C | CA409005746 | SALL4 | c.3068T>G (p.Ile1023Ser) c.737T>G (p.Ile246Ser) c.1757T>G (p.Ile586Ser) c.2762T>G (p.Ile921Ser) c.2942T>G (p.Ile981Ser) | |
| 20 | g.51784359A>G | CA409005744 | SALL4 | c.3068T>C (p.Ile1023Thr) c.737T>C (p.Ile246Thr) c.1757T>C (p.Ile586Thr) c.2762T>C (p.Ile921Thr) c.2942T>C (p.Ile981Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784359A>T | CA409005745 | SALL4 | c.3068T>A (p.Ile1023Asn) c.737T>A (p.Ile246Asn) c.1757T>A (p.Ile586Asn) c.2762T>A (p.Ile921Asn) c.2942T>A (p.Ile981Asn) | |
| 20 | g.51784360T>A | CA409005747 | SALL4 | c.3067A>T (p.Ile1023Phe) c.736A>T (p.Ile246Phe) c.1756A>T (p.Ile586Phe) c.2761A>T (p.Ile921Phe) c.2941A>T (p.Ile981Phe) | dbSNP |
| 20 | g.51784360T>C | CA409005748 | SALL4 | c.3067A>G (p.Ile1023Val) c.736A>G (p.Ile246Val) c.1756A>G (p.Ile586Val) c.2761A>G (p.Ile921Val) c.2941A>G (p.Ile981Val) | dbSNP gnomAD v4 |
| 20 | g.51784360T>G | CA409005749 | SALL4 | c.3067A>C (p.Ile1023Leu) c.736A>C (p.Ile246Leu) c.1756A>C (p.Ile586Leu) c.2761A>C (p.Ile921Leu) c.2941A>C (p.Ile981Leu) | |
| 20 | g.51784360T= | CA2369155237 | SALL4 | c.3067A= (p.Ile1023=) c.736A= (p.Ile246=) c.1756A= (p.Ile586=) c.2761A= (p.Ile921=) c.2941A= (p.Ile981=) | |
| 20 | g.51784361A>C | CA511025650 | SALL4 | c.3066T>G (p.Gly1022=) c.735T>G (p.Gly245=) c.1755T>G (p.Gly585=) c.2760T>G (p.Gly920=) c.2940T>G (p.Gly980=) | |
| 20 | g.51784361A>G | CA511025651 | SALL4 | c.3066T>C (p.Gly1022=) c.735T>C (p.Gly245=) c.1755T>C (p.Gly585=) c.2760T>C (p.Gly920=) c.2940T>C (p.Gly980=) | |
| 20 | g.51784361A>T | CA511025649 | SALL4 | c.3066T>A (p.Gly1022=) c.735T>A (p.Gly245=) c.1755T>A (p.Gly585=) c.2760T>A (p.Gly920=) c.2940T>A (p.Gly980=) | gnomAD v4 |
| 20 | g.51784362C>A | CA409005750 | SALL4 | c.3065G>T (p.Gly1022Val) c.734G>T (p.Gly245Val) c.1754G>T (p.Gly585Val) c.2759G>T (p.Gly920Val) c.2939G>T (p.Gly980Val) | gnomAD v4 |
| 20 | g.51784362C= | CA2369155238 | SALL4 | c.3065G= (p.Gly1022=) c.734G= (p.Gly245=) c.1754G= (p.Gly585=) c.2759G= (p.Gly920=) c.2939G= (p.Gly980=) | |
| 20 | g.51784362C>G | CA315365790 | SALL4 | c.3065G>C (p.Gly1022Ala) c.734G>C (p.Gly245Ala) c.1754G>C (p.Gly585Ala) c.2759G>C (p.Gly920Ala) c.2939G>C (p.Gly980Ala) | dbSNP gnomAD v4 |
| 20 | g.51784362C>T | CA409005751 | SALL4 | c.3065G>A (p.Gly1022Asp) c.734G>A (p.Gly245Asp) c.1754G>A (p.Gly585Asp) c.2759G>A (p.Gly920Asp) c.2939G>A (p.Gly980Asp) | dbSNP |
| 20 | g.51784363C>A | CA409005752 | SALL4 | c.3064G>T (p.Gly1022Cys) c.733G>T (p.Gly245Cys) c.1753G>T (p.Gly585Cys) c.2758G>T (p.Gly920Cys) c.2938G>T (p.Gly980Cys) | |
| 20 | g.51784363C= | CA2369155239 | SALL4 | c.3064G= (p.Gly1022=) c.733G= (p.Gly245=) c.1753G= (p.Gly585=) c.2758G= (p.Gly920=) c.2938G= (p.Gly980=) | |
| 20 | g.51784363C>G | CA9911931 | SALL4 | c.3064G>C (p.Gly1022Arg) c.733G>C (p.Gly245Arg) c.1753G>C (p.Gly585Arg) c.2758G>C (p.Gly920Arg) c.2938G>C (p.Gly980Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784363C>T | CA409005753 | SALL4 | c.3064G>A (p.Gly1022Ser) c.733G>A (p.Gly245Ser) c.1753G>A (p.Gly585Ser) c.2758G>A (p.Gly920Ser) c.2938G>A (p.Gly980Ser) |