UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51138992_51138993delinsAT | CA645592646 | SALL1 | c.3229_3230delinsAT (p.Pro1077Ile) c.2938_2939delinsAT (p.Pro980Ile) c.77-1441_77-1440delinsAT (n.77-1441_77-1440delinsAT) | COSMIC |
| 16 | g.51138993G>A | CA395881248 | SALL1 | c.3229C>T (p.Pro1077Ser) c.2938C>T (p.Pro980Ser) c.77-1441C>T (n.77-1441C>T) | COSMIC |
| 16 | g.51138993G>C | CA395881252 | SALL1 | c.3229C>G (p.Pro1077Ala) c.2938C>G (p.Pro980Ala) c.77-1441C>G (n.77-1441C>G) | |
| 16 | g.51138993G>T | CA395881253 | SALL1 | c.3229C>A (p.Pro1077Thr) c.2938C>A (p.Pro980Thr) c.77-1441C>A (n.77-1441C>A) | |
| 16 | g.51138994A>C | CA395881256 | SALL1 | c.3228T>G (p.Ile1076Met) c.2937T>G (p.Ile979Met) c.77-1442T>G (n.77-1442T>G) | |
| 16 | g.51138994A>G | CA495779973 | SALL1 | c.3228T>C (p.Ile1076=) c.2937T>C (p.Ile979=) c.77-1442T>C (n.77-1442T>C) | |
| 16 | g.51138994A>T | CA495779975 | SALL1 | c.3228T>A (p.Ile1076=) c.2937T>A (p.Ile979=) c.77-1442T>A (n.77-1442T>A) | |
| 16 | g.51138995A>C | CA395881257 | SALL1 | c.3227T>G (p.Ile1076Ser) c.2936T>G (p.Ile979Ser) c.77-1443T>G (n.77-1443T>G) | |
| 16 | g.51138995A>G | CA395881258 | SALL1 | c.3227T>C (p.Ile1076Thr) c.2936T>C (p.Ile979Thr) c.77-1443T>C (n.77-1443T>C) | |
| 16 | g.51138995A>T | CA395881260 | SALL1 | c.3227T>A (p.Ile1076Asn) c.2936T>A (p.Ile979Asn) c.77-1443T>A (n.77-1443T>A) | |
| 16 | g.51138996T>A | CA395881270 | SALL1 | c.3226A>T (p.Ile1076Phe) c.2935A>T (p.Ile979Phe) c.77-1444A>T (n.77-1444A>T) | |
| 16 | g.51138996T>C | CA395881268 | SALL1 | c.3226A>G (p.Ile1076Val) c.2935A>G (p.Ile979Val) c.77-1444A>G (n.77-1444A>G) | |
| 16 | g.51138996T>G | CA395881266 | SALL1 | c.3226A>C (p.Ile1076Leu) c.2935A>C (p.Ile979Leu) c.77-1444A>C (n.77-1444A>C) | |
| 16 | g.51138997C>A | CA495779977 | SALL1 | c.3225G>T (p.Val1075=) c.2934G>T (p.Val978=) c.77-1445G>T (n.77-1445G>T) | |
| 16 | g.51138997C>G | CA495779978 | SALL1 | c.3225G>C (p.Val1075=) c.2934G>C (p.Val978=) c.77-1445G>C (n.77-1445G>C) | |
| 16 | g.51138997C>T | CA495779979 | SALL1 | c.3225G>A (p.Val1075=) c.2934G>A (p.Val978=) c.77-1445G>A (n.77-1445G>A) | gnomAD v4 |
| 16 | g.51138998A= | CA2222017203 | SALL1 | c.3224T= (p.Val1075=) c.2933T= (p.Val978=) c.77-1446T= (n.77-1446T=) | |
| 16 | g.51138998A>C | CA395881272 | SALL1 | c.3224T>G (p.Val1075Gly) c.2933T>G (p.Val978Gly) c.77-1446T>G (n.77-1446T>G) | |
| 16 | g.51138998A>G | CA395881276 | SALL1 | c.3224T>C (p.Val1075Ala) c.2933T>C (p.Val978Ala) c.77-1446T>C (n.77-1446T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138998A>T | CA395881278 | SALL1 | c.3224T>A (p.Val1075Glu) c.2933T>A (p.Val978Glu) c.77-1446T>A (n.77-1446T>A) | |
| 16 | g.51138999C>A | CA395881281 | SALL1 | c.3223G>T (p.Val1075Leu) c.2932G>T (p.Val978Leu) c.77-1447G>T (n.77-1447G>T) | |
| 16 | g.51138999C>G | CA395881283 | SALL1 | c.3223G>C (p.Val1075Leu) c.2932G>C (p.Val978Leu) c.77-1447G>C (n.77-1447G>C) | |
| 16 | g.51138999C>T | CA395881286 | SALL1 | c.3223G>A (p.Val1075Met) c.2932G>A (p.Val978Met) c.77-1447G>A (n.77-1447G>A) | gnomAD v4 |
| 16 | g.51139000C>A | CA495779983 | SALL1 | c.3222G>T (p.Ala1074=) c.2931G>T (p.Ala977=) c.77-1448G>T (n.77-1448G>T) | |
| 16 | g.51139000C= | CA2222017216 | SALL1 | c.3222G= (p.Ala1074=) c.2931G= (p.Ala977=) c.77-1448G= (n.77-1448G=) | |
| 16 | g.51139000C>G | CA8052974 | SALL1 | c.3222G>C (p.Ala1074=) c.2931G>C (p.Ala977=) c.77-1448G>C (n.77-1448G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51139000C>T | CA8052973 | SALL1 | c.3222G>A (p.Ala1074=) c.2931G>A (p.Ala977=) c.77-1448G>A (n.77-1448G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139001G>A | CA8052975 | SALL1 | c.3221C>T (p.Ala1074Val) c.2930C>T (p.Ala977Val) c.77-1449C>T (n.77-1449C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51139001G>C | CA395881301 | SALL1 | c.3221C>G (p.Ala1074Gly) c.2930C>G (p.Ala977Gly) c.77-1449C>G (n.77-1449C>G) | |
| 16 | g.51139001G= | CA2222017222 | SALL1 | c.3221C= (p.Ala1074=) c.2930C= (p.Ala977=) c.77-1449C= (n.77-1449C=) | |
| 16 | g.51139001G>T | CA395881302 | SALL1 | c.3221C>A (p.Ala1074Glu) c.2930C>A (p.Ala977Glu) c.77-1449C>A (n.77-1449C>A) | |
| 16 | g.51139002C>A | CA395881306 | SALL1 | c.3220G>T (p.Ala1074Ser) c.2929G>T (p.Ala977Ser) c.77-1450G>T (n.77-1450G>T) | |
| 16 | g.51139002C= | CA2222017229 | SALL1 | c.3220G= (p.Ala1074=) c.2929G= (p.Ala977=) c.77-1450G= (n.77-1450G=) | |
| 16 | g.51139002C>G | CA395881308 | SALL1 | c.3220G>C (p.Ala1074Pro) c.2929G>C (p.Ala977Pro) c.77-1450G>C (n.77-1450G>C) | |
| 16 | g.51139002C>T | CA395881310 | SALL1 | c.3220G>A (p.Ala1074Thr) c.2929G>A (p.Ala977Thr) c.77-1450G>A (n.77-1450G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139003T>A | CA495779984 | SALL1 | c.3219A>T (p.Ser1073=) c.2928A>T (p.Ser976=) c.77-1451A>T (n.77-1451A>T) | |
| 16 | g.51139003T>C | CA495779985 | SALL1 | c.3219A>G (p.Ser1073=) c.2928A>G (p.Ser976=) c.77-1451A>G (n.77-1451A>G) | |
| 16 | g.51139003T>G | CA495779987 | SALL1 | c.3219A>C (p.Ser1073=) c.2928A>C (p.Ser976=) c.77-1451A>C (n.77-1451A>C) | |
| 16 | g.51139004G>A | CA395881314 | SALL1 | c.3218C>T (p.Ser1073Leu) c.2927C>T (p.Ser976Leu) c.77-1452C>T (n.77-1452C>T) | gnomAD v4 |
| 16 | g.51139004G>C | CA395881315 | SALL1 | c.3218C>G (p.Ser1073Ter) c.2927C>G (p.Ser976Ter) c.77-1452C>G (n.77-1452C>G) | |
| 16 | g.51139004G>T | CA395881313 | SALL1 | c.3218C>A (p.Ser1073Ter) c.2927C>A (p.Ser976Ter) c.77-1452C>A (n.77-1452C>A) | |
| 16 | g.51139005A>C | CA395881316 | SALL1 | c.3217T>G (p.Ser1073Ala) c.2926T>G (p.Ser976Ala) c.77-1453T>G (n.77-1453T>G) | gnomAD v4 |
| 16 | g.51139005A>G | CA395881317 | SALL1 | c.3217T>C (p.Ser1073Pro) c.2926T>C (p.Ser976Pro) c.77-1453T>C (n.77-1453T>C) | |
| 16 | g.51139005A>T | CA395881318 | SALL1 | c.3217T>A (p.Ser1073Thr) c.2926T>A (p.Ser976Thr) c.77-1453T>A (n.77-1453T>A) | |
| 16 | g.51139006G>A | CA495779988 | SALL1 | c.3216C>T (p.Asn1072=) c.2925C>T (p.Asn975=) c.77-1454C>T (n.77-1454C>T) | gnomAD v4 |
| 16 | g.51139006G>C | CA395881320 | SALL1 | c.3216C>G (p.Asn1072Lys) c.2925C>G (p.Asn975Lys) c.77-1454C>G (n.77-1454C>G) | |
| 16 | g.51139006G= | CA2222017233 | SALL1 | c.3216C= (p.Asn1072=) c.2925C= (p.Asn975=) c.77-1454C= (n.77-1454C=) | |
| 16 | g.51139006G>T | CA395881322 | SALL1 | c.3216C>A (p.Asn1072Lys) c.2925C>A (p.Asn975Lys) c.77-1454C>A (n.77-1454C>A) | dbSNP |
| 16 | g.51139007T>A | CA395881323 | SALL1 | c.3215A>T (p.Asn1072Ile) c.2924A>T (p.Asn975Ile) c.77-1455A>T (n.77-1455A>T) | |
| 16 | g.51139007T>C | CA395881325 | SALL1 | c.3215A>G (p.Asn1072Ser) c.2924A>G (p.Asn975Ser) c.77-1455A>G (n.77-1455A>G) | |
| 16 | g.51139007T>G | CA395881326 | SALL1 | c.3215A>C (p.Asn1072Thr) c.2924A>C (p.Asn975Thr) c.77-1455A>C (n.77-1455A>C) | |
| 16 | g.51139008T>A | CA395881329 | SALL1 | c.3214A>T (p.Asn1072Tyr) c.2923A>T (p.Asn975Tyr) c.77-1456A>T (n.77-1456A>T) | |
| 16 | g.51139008T>C | CA395881331 | SALL1 | c.3214A>G (p.Asn1072Asp) c.2923A>G (p.Asn975Asp) c.77-1456A>G (n.77-1456A>G) | |
| 16 | g.51139008T>G | CA395881334 | SALL1 | c.3214A>C (p.Asn1072His) c.2923A>C (p.Asn975His) c.77-1456A>C (n.77-1456A>C) | |
| 16 | g.51139009C>A | CA395881343 | SALL1 | c.3213G>T (p.Gln1071His) c.2922G>T (p.Gln974His) c.77-1457G>T (n.77-1457G>T) | |
| 16 | g.51139009C>G | CA395881349 | SALL1 | c.3213G>C (p.Gln1071His) c.2922G>C (p.Gln974His) c.77-1457G>C (n.77-1457G>C) | |
| 16 | g.51139009C>T | CA495779991 | SALL1 | c.3213G>A (p.Gln1071=) c.2922G>A (p.Gln974=) c.77-1457G>A (n.77-1457G>A) | |
| 16 | g.51139010T>A | CA395881357 | SALL1 | c.3212A>T (p.Gln1071Leu) c.2921A>T (p.Gln974Leu) c.77-1458A>T (n.77-1458A>T) | |
| 16 | g.51139010T>C | CA395881352 | SALL1 | c.3212A>G (p.Gln1071Arg) c.2921A>G (p.Gln974Arg) c.77-1458A>G (n.77-1458A>G) | |
| 16 | g.51139010T>G | CA395881354 | SALL1 | c.3212A>C (p.Gln1071Pro) c.2921A>C (p.Gln974Pro) c.77-1458A>C (n.77-1458A>C) | |
| 16 | g.51139011G>A | CA395881360 | SALL1 | c.3211C>T (p.Gln1071Ter) c.2920C>T (p.Gln974Ter) c.77-1459C>T (n.77-1459C>T) | |
| 16 | g.51139011G>C | CA395881362 | SALL1 | c.3211C>G (p.Gln1071Glu) c.2920C>G (p.Gln974Glu) c.77-1459C>G (n.77-1459C>G) | |
| 16 | g.51139011G>T | CA395881364 | SALL1 | c.3211C>A (p.Gln1071Lys) c.2920C>A (p.Gln974Lys) c.77-1459C>A (n.77-1459C>A) | gnomAD v4 |
| 16 | g.51139012A= | CA2222017236 | SALL1 | c.3210T= (p.Asn1070=) c.2919T= (p.Asn973=) c.77-1460T= (n.77-1460T=) | |
| 16 | g.51139012A>C | CA395881374 | SALL1 | c.3210T>G (p.Asn1070Lys) c.2919T>G (p.Asn973Lys) c.77-1460T>G (n.77-1460T>G) | dbSNP |
| 16 | g.51139012A>G | CA495779992 | SALL1 | c.3210T>C (p.Asn1070=) c.2919T>C (p.Asn973=) c.77-1460T>C (n.77-1460T>C) | |
| 16 | g.51139012A>T | CA395881376 | SALL1 | c.3210T>A (p.Asn1070Lys) c.2919T>A (p.Asn973Lys) c.77-1460T>A (n.77-1460T>A) | |
| 16 | g.51139013T>A | CA395881379 | SALL1 | c.3209A>T (p.Asn1070Ile) c.2918A>T (p.Asn973Ile) c.77-1461A>T (n.77-1461A>T) | gnomAD v4 |
| 16 | g.51139013T>C | CA8052976 | SALL1 | c.3209A>G (p.Asn1070Ser) c.2918A>G (p.Asn973Ser) c.77-1461A>G (n.77-1461A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139013T>G | CA395881383 | SALL1 | c.3209A>C (p.Asn1070Thr) c.2918A>C (p.Asn973Thr) c.77-1461A>C (n.77-1461A>C) | |
| 16 | g.51139013T= | CA2222017240 | SALL1 | c.3209A= (p.Asn1070=) c.2918A= (p.Asn973=) c.77-1461A= (n.77-1461A=) | |
| 16 | g.51139013_51139014insCCC | CA2222017241 | SALL1 | c.3208_3209insGGG (p.Asn1070delinsArgAsp) c.2917_2918insGGG (p.Asn973delinsArgAsp) c.77-1462_77-1461insGGG (n.77-1462_77-1461insGGG) | dbSNP |
| 16 | g.51139014T>A | CA395881388 | SALL1 | c.3208A>T (p.Asn1070Tyr) c.2917A>T (p.Asn973Tyr) c.77-1462A>T (n.77-1462A>T) | |
| 16 | g.51139014T>C | CA8052977 | SALL1 | c.3208A>G (p.Asn1070Asp) c.2917A>G (p.Asn973Asp) c.77-1462A>G (n.77-1462A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139014T>G | CA395881391 | SALL1 | c.3208A>C (p.Asn1070His) c.2917A>C (p.Asn973His) c.77-1462A>C (n.77-1462A>C) | gnomAD v4 |
| 16 | g.51139014T= | CA2222017243 | SALL1 | c.3208A= (p.Asn1070=) c.2917A= (p.Asn973=) c.77-1462A= (n.77-1462A=) | |
| 16 | g.51139015G>A | CA495779994 | SALL1 | c.3207C>T (p.Pro1069=) c.2916C>T (p.Pro972=) c.77-1463C>T (n.77-1463C>T) | |
| 16 | g.51139015G>C | CA495779996 | SALL1 | c.3207C>G (p.Pro1069=) c.2916C>G (p.Pro972=) c.77-1463C>G (n.77-1463C>G) | |
| 16 | g.51139015G>T | CA495779995 | SALL1 | c.3207C>A (p.Pro1069=) c.2916C>A (p.Pro972=) c.77-1463C>A (n.77-1463C>A) | |
| 16 | g.51139016G>A | CA395881394 | SALL1 | c.3206C>T (p.Pro1069Leu) c.2915C>T (p.Pro972Leu) c.77-1464C>T (n.77-1464C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139016G>C | CA395881399 | SALL1 | c.3206C>G (p.Pro1069Arg) c.2915C>G (p.Pro972Arg) c.77-1464C>G (n.77-1464C>G) | |
| 16 | g.51139016G= | CA2222017245 | SALL1 | c.3206C= (p.Pro1069=) c.2915C= (p.Pro972=) c.77-1464C= (n.77-1464C=) | |
| 16 | g.51139016G>T | CA395881396 | SALL1 | c.3206C>A (p.Pro1069His) c.2915C>A (p.Pro972His) c.77-1464C>A (n.77-1464C>A) | COSMIC |
| 16 | g.51139017G>A | CA395881400 | SALL1 | c.3205C>T (p.Pro1069Ser) c.2914C>T (p.Pro972Ser) c.77-1465C>T (n.77-1465C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139017G>C | CA395881402 | SALL1 | c.3205C>G (p.Pro1069Ala) c.2914C>G (p.Pro972Ala) c.77-1465C>G (n.77-1465C>G) | |
| 16 | g.51139017G= | CA2222017248 | SALL1 | c.3205C= (p.Pro1069=) c.2914C= (p.Pro972=) c.77-1465C= (n.77-1465C=) | |
| 16 | g.51139017G>T | CA395881401 | SALL1 | c.3205C>A (p.Pro1069Thr) c.2914C>A (p.Pro972Thr) c.77-1465C>A (n.77-1465C>A) | |
| 16 | g.51139018G>A | CA495779998 | SALL1 | c.3204C>T (p.Gly1068=) c.2913C>T (p.Gly971=) c.77-1466C>T (n.77-1466C>T) | |
| 16 | g.51139018G>C | CA495779999 | SALL1 | c.3204C>G (p.Gly1068=) c.2913C>G (p.Gly971=) c.77-1466C>G (n.77-1466C>G) | |
| 16 | g.51139018G>T | CA495780001 | SALL1 | c.3204C>A (p.Gly1068=) c.2913C>A (p.Gly971=) c.77-1466C>A (n.77-1466C>A) | |
| 16 | g.51139019C>A | CA395881404 | SALL1 | c.3203G>T (p.Gly1068Val) c.2912G>T (p.Gly971Val) c.77-1467G>T (n.77-1467G>T) | dbSNP |
| 16 | g.51139019C= | CA2222017250 | SALL1 | c.3203G= (p.Gly1068=) c.2912G= (p.Gly971=) c.77-1467G= (n.77-1467G=) | |
| 16 | g.51139019C>G | CA395881405 | SALL1 | c.3203G>C (p.Gly1068Ala) c.2912G>C (p.Gly971Ala) c.77-1467G>C (n.77-1467G>C) | |
| 16 | g.51139019C>T | CA395881412 | SALL1 | c.3203G>A (p.Gly1068Asp) c.2912G>A (p.Gly971Asp) c.77-1467G>A (n.77-1467G>A) | |
| 16 | g.51139020C>A | CA395881421 | SALL1 | c.3202G>T (p.Gly1068Cys) c.2911G>T (p.Gly971Cys) c.77-1468G>T (n.77-1468G>T) | |
| 16 | g.51139020C= | CA2222017253 | SALL1 | c.3202G= (p.Gly1068=) c.2911G= (p.Gly971=) c.77-1468G= (n.77-1468G=) | |
| 16 | g.51139020C>G | CA395881423 | SALL1 | c.3202G>C (p.Gly1068Arg) c.2911G>C (p.Gly971Arg) c.77-1468G>C (n.77-1468G>C) | |
| 16 | g.51139020C>T | CA395881425 | SALL1 | c.3202G>A (p.Gly1068Ser) c.2911G>A (p.Gly971Ser) c.77-1468G>A (n.77-1468G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139021A>C | CA495780002 | SALL1 | c.3201T>G (p.Leu1067=) c.2910T>G (p.Leu970=) c.77-1469T>G (n.77-1469T>G) | |
| 16 | g.51139021A>G | CA495780003 | SALL1 | c.3201T>C (p.Leu1067=) c.2910T>C (p.Leu970=) c.77-1469T>C (n.77-1469T>C) | gnomAD v4 |
| 16 | g.51139021A>T | CA495780004 | SALL1 | c.3201T>A (p.Leu1067=) c.2910T>A (p.Leu970=) c.77-1469T>A (n.77-1469T>A) | |
| 16 | g.51139021_51139022del | CA2511750274 | SALL1 | c.3200_3201del (p.Leu1067ArgfsTer?) c.2909_2910del (p.Leu970ArgfsTer?) c.77-1470_77-1469del (n.77-1470_77-1469del) | |
| 16 | g.51139022A>C | CA395881435 | SALL1 | c.3200T>G (p.Leu1067Arg) c.2909T>G (p.Leu970Arg) c.77-1470T>G (n.77-1470T>G) | |
| 16 | g.51139022A>G | CA395881439 | SALL1 | c.3200T>C (p.Leu1067Pro) c.2909T>C (p.Leu970Pro) c.77-1470T>C (n.77-1470T>C) | |
| 16 | g.51139022A>T | CA395881441 | SALL1 | c.3200T>A (p.Leu1067His) c.2909T>A (p.Leu970His) c.77-1470T>A (n.77-1470T>A) | |
| 16 | g.51139023G>A | CA395881442 | SALL1 | c.3199C>T (p.Leu1067Phe) c.2908C>T (p.Leu970Phe) c.77-1471C>T (n.77-1471C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139023G>C | CA395881445 | SALL1 | c.3199C>G (p.Leu1067Val) c.2908C>G (p.Leu970Val) c.77-1471C>G (n.77-1471C>G) | |
| 16 | g.51139023G= | CA2222017259 | SALL1 | c.3199C= (p.Leu1067=) c.2908C= (p.Leu970=) c.77-1471C= (n.77-1471C=) | |
| 16 | g.51139023G>T | CA395881447 | SALL1 | c.3199C>A (p.Leu1067Ile) c.2908C>A (p.Leu970Ile) c.77-1471C>A (n.77-1471C>A) | |
| 16 | g.51139024G>A | CA495780005 | SALL1 | c.3198C>T (p.Asn1066=) c.2907C>T (p.Asn969=) c.77-1472C>T (n.77-1472C>T) | |
| 16 | g.51139024G>C | CA8052978 | SALL1 | c.3198C>G (p.Asn1066Lys) c.2907C>G (p.Asn969Lys) c.77-1472C>G (n.77-1472C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51139024G= | CA2222017265 | SALL1 | c.3198C= (p.Asn1066=) c.2907C= (p.Asn969=) c.77-1472C= (n.77-1472C=) | |
| 16 | g.51139024G>T | CA395881450 | SALL1 | c.3198C>A (p.Asn1066Lys) c.2907C>A (p.Asn969Lys) c.77-1472C>A (n.77-1472C>A) | |
| 16 | g.51139025T>A | CA8052979 | SALL1 | c.3197A>T (p.Asn1066Ile) c.2906A>T (p.Asn969Ile) c.77-1473A>T (n.77-1473A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139025T>C | CA395881457 | SALL1 | c.3197A>G (p.Asn1066Ser) c.2906A>G (p.Asn969Ser) c.77-1473A>G (n.77-1473A>G) | gnomAD v4 |
| 16 | g.51139025T>G | CA395881458 | SALL1 | c.3197A>C (p.Asn1066Thr) c.2906A>C (p.Asn969Thr) c.77-1473A>C (n.77-1473A>C) | |
| 16 | g.51139025T= | CA2222017270 | SALL1 | c.3197A= (p.Asn1066=) c.2906A= (p.Asn969=) c.77-1473A= (n.77-1473A=) | |
| 16 | g.51139025_51139026insAC | CA2529794729 | SALL1 | c.3196_3197insGT (p.Asn1066SerfsTer11) c.2905_2906insGT (p.Asn969SerfsTer11) c.77-1474_77-1473insGT (n.77-1474_77-1473insGT) | |
| 16 | g.51139026T>A | CA395881460 | SALL1 | c.3196A>T (p.Asn1066Tyr) c.2905A>T (p.Asn969Tyr) c.77-1474A>T (n.77-1474A>T) | |
| 16 | g.51139026T>C | CA395881464 | SALL1 | c.3196A>G (p.Asn1066Asp) c.2905A>G (p.Asn969Asp) c.77-1474A>G (n.77-1474A>G) | |
| 16 | g.51139026T>G | CA395881469 | SALL1 | c.3196A>C (p.Asn1066His) c.2905A>C (p.Asn969His) c.77-1474A>C (n.77-1474A>C) | |
| 16 | g.51139027G>A | CA495780006 | SALL1 | c.3195C>T (p.Ser1065=) c.2904C>T (p.Ser968=) c.77-1475C>T (n.77-1475C>T) | |
| 16 | g.51139027G>C | CA495780007 | SALL1 | c.3195C>G (p.Ser1065=) c.2904C>G (p.Ser968=) c.77-1475C>G (n.77-1475C>G) | |
| 16 | g.51139027G= | CA2222017277 | SALL1 | c.3195C= (p.Ser1065=) c.2904C= (p.Ser968=) c.77-1475C= (n.77-1475C=) | |
| 16 | g.51139027G>T | CA495780008 | SALL1 | c.3195C>A (p.Ser1065=) c.2904C>A (p.Ser968=) c.77-1475C>A (n.77-1475C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139028G>A | CA395881472 | SALL1 | c.3194C>T (p.Ser1065Phe) c.2903C>T (p.Ser968Phe) c.77-1476C>T (n.77-1476C>T) | gnomAD v4 COSMIC |
| 16 | g.51139028G>C | CA395881474 | SALL1 | c.3194C>G (p.Ser1065Cys) c.2903C>G (p.Ser968Cys) c.77-1476C>G (n.77-1476C>G) | |
| 16 | g.51139028G>T | CA395881476 | SALL1 | c.3194C>A (p.Ser1065Tyr) c.2903C>A (p.Ser968Tyr) c.77-1476C>A (n.77-1476C>A) | |
| 16 | g.51139029A>C | CA395881480 | SALL1 | c.3193T>G (p.Ser1065Ala) c.2902T>G (p.Ser968Ala) c.77-1477T>G (n.77-1477T>G) | |
| 16 | g.51139029A>G | CA395881481 | SALL1 | c.3193T>C (p.Ser1065Pro) c.2902T>C (p.Ser968Pro) c.77-1477T>C (n.77-1477T>C) | |
| 16 | g.51139029A>T | CA395881482 | SALL1 | c.3193T>A (p.Ser1065Thr) c.2902T>A (p.Ser968Thr) c.77-1477T>A (n.77-1477T>A) | |
| 16 | g.51139030A>C | CA395881483 | SALL1 | c.3192T>G (p.Ser1064Arg) c.2901T>G (p.Ser967Arg) c.77-1478T>G (n.77-1478T>G) | |
| 16 | g.51139030A>G | CA495780009 | SALL1 | c.3192T>C (p.Ser1064=) c.2901T>C (p.Ser967=) c.77-1478T>C (n.77-1478T>C) | |
| 16 | g.51139030A>T | CA395881484 | SALL1 | c.3192T>A (p.Ser1064Arg) c.2901T>A (p.Ser967Arg) c.77-1478T>A (n.77-1478T>A) | |
| 16 | g.51139031C>A | CA395881485 | SALL1 | c.3191G>T (p.Ser1064Ile) c.2900G>T (p.Ser967Ile) c.77-1479G>T (n.77-1479G>T) | gnomAD v4 |
| 16 | g.51139031C= | CA2222017282 | SALL1 | c.3191G= (p.Ser1064=) c.2900G= (p.Ser967=) c.77-1479G= (n.77-1479G=) | |
| 16 | g.51139031C>G | CA395881486 | SALL1 | c.3191G>C (p.Ser1064Thr) c.2900G>C (p.Ser967Thr) c.77-1479G>C (n.77-1479G>C) | |
| 16 | g.51139031C>T | CA395881487 | SALL1 | c.3191G>A (p.Ser1064Asn) c.2900G>A (p.Ser967Asn) c.77-1479G>A (n.77-1479G>A) | dbSNP |
| 16 | g.51139032T>A | CA395881489 | SALL1 | c.3190A>T (p.Ser1064Cys) c.2899A>T (p.Ser967Cys) c.77-1480A>T (n.77-1480A>T) | |
| 16 | g.51139032T>C | CA395881493 | SALL1 | c.3190A>G (p.Ser1064Gly) c.2899A>G (p.Ser967Gly) c.77-1480A>G (n.77-1480A>G) | |
| 16 | g.51139032T>G | CA395881494 | SALL1 | c.3190A>C (p.Ser1064Arg) c.2899A>C (p.Ser967Arg) c.77-1480A>C (n.77-1480A>C) | |
| 16 | g.51139033G>A | CA495780011 | SALL1 | c.3189C>T (p.Pro1063=) c.2898C>T (p.Pro966=) c.77-1481C>T (n.77-1481C>T) | |
| 16 | g.51139033G>C | CA495780013 | SALL1 | c.3189C>G (p.Pro1063=) c.2898C>G (p.Pro966=) c.77-1481C>G (n.77-1481C>G) | |
| 16 | g.51139033G>T | CA495780014 | SALL1 | c.3189C>A (p.Pro1063=) c.2898C>A (p.Pro966=) c.77-1481C>A (n.77-1481C>A) | |
| 16 | g.51139034G>A | CA395881503 | SALL1 | c.3188C>T (p.Pro1063Leu) c.2897C>T (p.Pro966Leu) c.77-1482C>T (n.77-1482C>T) | |
| 16 | g.51139034G>C | CA395881498 | SALL1 | c.3188C>G (p.Pro1063Arg) c.2897C>G (p.Pro966Arg) c.77-1482C>G (n.77-1482C>G) | |
| 16 | g.51139034G>T | CA395881501 | SALL1 | c.3188C>A (p.Pro1063His) c.2897C>A (p.Pro966His) c.77-1482C>A (n.77-1482C>A) | |
| 16 | g.51139035G>A | CA395881506 | SALL1 | c.3187C>T (p.Pro1063Ser) c.2896C>T (p.Pro966Ser) c.77-1483C>T (n.77-1483C>T) | |
| 16 | g.51139035G>C | CA395881509 | SALL1 | c.3187C>G (p.Pro1063Ala) c.2896C>G (p.Pro966Ala) c.77-1483C>G (n.77-1483C>G) | |
| 16 | g.51139035G>T | CA395881510 | SALL1 | c.3187C>A (p.Pro1063Thr) c.2896C>A (p.Pro966Thr) c.77-1483C>A (n.77-1483C>A) | |
| 16 | g.51139036C>A | CA395881514 | SALL1 | c.3186G>T (p.Glu1062Asp) c.2895G>T (p.Glu965Asp) c.77-1484G>T (n.77-1484G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139036C= | CA2222017284 | SALL1 | c.3186G= (p.Glu1062=) c.2895G= (p.Glu965=) c.77-1484G= (n.77-1484G=) | |
| 16 | g.51139036C>G | CA395881517 | SALL1 | c.3186G>C (p.Glu1062Asp) c.2895G>C (p.Glu965Asp) c.77-1484G>C (n.77-1484G>C) | |
| 16 | g.51139036C>T | CA495780015 | SALL1 | c.3186G>A (p.Glu1062=) c.2895G>A (p.Glu965=) c.77-1484G>A (n.77-1484G>A) | |
| 16 | g.51139037T>A | CA395881520 | SALL1 | c.3185A>T (p.Glu1062Val) c.2894A>T (p.Glu965Val) c.77-1485A>T (n.77-1485A>T) | |
| 16 | g.51139037T>C | CA395881524 | SALL1 | c.3185A>G (p.Glu1062Gly) c.2894A>G (p.Glu965Gly) c.77-1485A>G (n.77-1485A>G) | gnomAD v4 |
| 16 | g.51139037T>G | CA395881523 | SALL1 | c.3185A>C (p.Glu1062Ala) c.2894A>C (p.Glu965Ala) c.77-1485A>C (n.77-1485A>C) | |
| 16 | g.51139038C>A | CA395881528 | SALL1 | c.3184G>T (p.Glu1062Ter) c.2893G>T (p.Glu965Ter) c.77-1486G>T (n.77-1486G>T) | |
| 16 | g.51139038C>G | CA395881530 | SALL1 | c.3184G>C (p.Glu1062Gln) c.2893G>C (p.Glu965Gln) c.77-1486G>C (n.77-1486G>C) | |
| 16 | g.51139038C>T | CA395881532 | SALL1 | c.3184G>A (p.Glu1062Lys) c.2893G>A (p.Glu965Lys) c.77-1486G>A (n.77-1486G>A) | COSMIC |
| 16 | g.51139039A= | CA2222017287 | SALL1 | c.3183T= (p.Phe1061=) c.2892T= (p.Phe964=) c.77-1487T= (n.77-1487T=) | |
| 16 | g.51139039A>C | CA395881536 | SALL1 | c.3183T>G (p.Phe1061Leu) c.2892T>G (p.Phe964Leu) c.77-1487T>G (n.77-1487T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139039A>G | CA495780017 | SALL1 | c.3183T>C (p.Phe1061=) c.2892T>C (p.Phe964=) c.77-1487T>C (n.77-1487T>C) | |
| 16 | g.51139039A>T | CA395881538 | SALL1 | c.3183T>A (p.Phe1061Leu) c.2892T>A (p.Phe964Leu) c.77-1487T>A (n.77-1487T>A) | |
| 16 | g.51139040A>C | CA395881539 | SALL1 | c.3182T>G (p.Phe1061Cys) c.2891T>G (p.Phe964Cys) c.77-1488T>G (n.77-1488T>G) | |
| 16 | g.51139040A>G | CA395881540 | SALL1 | c.3182T>C (p.Phe1061Ser) c.2891T>C (p.Phe964Ser) c.77-1488T>C (n.77-1488T>C) | |
| 16 | g.51139040A>T | CA395881541 | SALL1 | c.3182T>A (p.Phe1061Tyr) c.2891T>A (p.Phe964Tyr) c.77-1488T>A (n.77-1488T>A) | |
| 16 | g.51139041A>C | CA395881542 | SALL1 | c.3181T>G (p.Phe1061Val) c.2890T>G (p.Phe964Val) c.77-1489T>G (n.77-1489T>G) | |
| 16 | g.51139041A>G | CA395881543 | SALL1 | c.3181T>C (p.Phe1061Leu) c.2890T>C (p.Phe964Leu) c.77-1489T>C (n.77-1489T>C) | |
| 16 | g.51139041A>T | CA395881545 | SALL1 | c.3181T>A (p.Phe1061Ile) c.2890T>A (p.Phe964Ile) c.77-1489T>A (n.77-1489T>A) | |
| 16 | g.51139042G>A | CA281300755 | SALL1 | c.3180C>T (p.Leu1060=) c.2889C>T (p.Leu963=) c.77-1490C>T (n.77-1490C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139042G>C | CA495780021 | SALL1 | c.3180C>G (p.Leu1060=) c.2889C>G (p.Leu963=) c.77-1490C>G (n.77-1490C>G) | gnomAD v4 |
| 16 | g.51139042G= | CA2222017296 | SALL1 | c.3180C= (p.Leu1060=) c.2889C= (p.Leu963=) c.77-1490C= (n.77-1490C=) | |
| 16 | g.51139042G>T | CA8052980 | SALL1 | c.3180C>A (p.Leu1060=) c.2889C>A (p.Leu963=) c.77-1490C>A (n.77-1490C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139043A>C | CA395881549 | SALL1 | c.3179T>G (p.Leu1060Arg) c.2888T>G (p.Leu963Arg) c.77-1491T>G (n.77-1491T>G) | |
| 16 | g.51139043A>G | CA395881547 | SALL1 | c.3179T>C (p.Leu1060Pro) c.2888T>C (p.Leu963Pro) c.77-1491T>C (n.77-1491T>C) | |
| 16 | g.51139043A>T | CA395881551 | SALL1 | c.3179T>A (p.Leu1060His) c.2888T>A (p.Leu963His) c.77-1491T>A (n.77-1491T>A) | |
| 16 | g.51139044G>A | CA8052981 | SALL1 | c.3178C>T (p.Leu1060Phe) c.2887C>T (p.Leu963Phe) c.77-1492C>T (n.77-1492C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139044G>C | CA395881558 | SALL1 | c.3178C>G (p.Leu1060Val) c.2887C>G (p.Leu963Val) c.77-1492C>G (n.77-1492C>G) | |
| 16 | g.51139044G= | CA2222017306 | SALL1 | c.3178C= (p.Leu1060=) c.2887C= (p.Leu963=) c.77-1492C= (n.77-1492C=) | |
| 16 | g.51139044G>T | CA395881559 | SALL1 | c.3178C>A (p.Leu1060Ile) c.2887C>A (p.Leu963Ile) c.77-1492C>A (n.77-1492C>A) | |
| 16 | g.51139045C>A | CA395881562 | SALL1 | c.3177G>T (p.Gln1059His) c.2886G>T (p.Gln962His) c.77-1493G>T (n.77-1493G>T) | |
| 16 | g.51139045C= | CA2222017322 | SALL1 | c.3177G= (p.Gln1059=) c.2886G= (p.Gln962=) c.77-1493G= (n.77-1493G=) | |
| 16 | g.51139045C>G | CA395881564 | SALL1 | c.3177G>C (p.Gln1059His) c.2886G>C (p.Gln962His) c.77-1493G>C (n.77-1493G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139045C>T | CA8052982 | SALL1 | c.3177G>A (p.Gln1059=) c.2886G>A (p.Gln962=) c.77-1493G>A (n.77-1493G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51139046T>A | CA395881572 | SALL1 | c.3176A>T (p.Gln1059Leu) c.2885A>T (p.Gln962Leu) c.77-1494A>T (n.77-1494A>T) | |
| 16 | g.51139046T>C | CA395881570 | SALL1 | c.3176A>G (p.Gln1059Arg) c.2885A>G (p.Gln962Arg) c.77-1494A>G (n.77-1494A>G) | |
| 16 | g.51139046T>G | CA395881568 | SALL1 | c.3176A>C (p.Gln1059Pro) c.2885A>C (p.Gln962Pro) c.77-1494A>C (n.77-1494A>C) | |
| 16 | g.51139047G>A | CA395881574 | SALL1 | c.3175C>T (p.Gln1059Ter) c.2884C>T (p.Gln962Ter) c.77-1495C>T (n.77-1495C>T) | |
| 16 | g.51139047G>C | CA395881575 | SALL1 | c.3175C>G (p.Gln1059Glu) c.2884C>G (p.Gln962Glu) c.77-1495C>G (n.77-1495C>G) | |
| 16 | g.51139047G>T | CA395881576 | SALL1 | c.3175C>A (p.Gln1059Lys) c.2884C>A (p.Gln962Lys) c.77-1495C>A (n.77-1495C>A) | |
| 16 | g.51139048G>A | CA495780023 | SALL1 | c.3174C>T (p.Ser1058=) c.2883C>T (p.Ser961=) c.77-1496C>T (n.77-1496C>T) | gnomAD v4 COSMIC |
| 16 | g.51139048G>C | CA495780024 | SALL1 | c.3174C>G (p.Ser1058=) c.2883C>G (p.Ser961=) c.77-1496C>G (n.77-1496C>G) | |
| 16 | g.51139048G>T | CA495780025 | SALL1 | c.3174C>A (p.Ser1058=) c.2883C>A (p.Ser961=) c.77-1496C>A (n.77-1496C>A) | gnomAD v3 gnomAD v4 |
| 16 | g.51139049G>A | CA395881577 | SALL1 | c.3173C>T (p.Ser1058Phe) c.2882C>T (p.Ser961Phe) c.77-1497C>T (n.77-1497C>T) | |
| 16 | g.51139049G>C | CA395881578 | SALL1 | c.3173C>G (p.Ser1058Cys) c.2882C>G (p.Ser961Cys) c.77-1497C>G (n.77-1497C>G) | ClinVar dbSNP |
| 16 | g.51139049G>T | CA395881580 | SALL1 | c.3173C>A (p.Ser1058Tyr) c.2882C>A (p.Ser961Tyr) c.77-1497C>A (n.77-1497C>A) | |
| 16 | g.51139050A>C | CA395881589 | SALL1 | c.3172T>G (p.Ser1058Ala) c.2881T>G (p.Ser961Ala) c.77-1498T>G (n.77-1498T>G) | |
| 16 | g.51139050A>G | CA395881582 | SALL1 | c.3172T>C (p.Ser1058Pro) c.2881T>C (p.Ser961Pro) c.77-1498T>C (n.77-1498T>C) | |
| 16 | g.51139050A>T | CA395881587 | SALL1 | c.3172T>A (p.Ser1058Thr) c.2881T>A (p.Ser961Thr) c.77-1498T>A (n.77-1498T>A) | |
| 16 | g.51139051T>A | CA495780026 | SALL1 | c.3171A>T (p.Pro1057=) c.2880A>T (p.Pro960=) c.77-1499A>T (n.77-1499A>T) | |
| 16 | g.51139051T>C | CA495780027 | SALL1 | c.3171A>G (p.Pro1057=) c.2880A>G (p.Pro960=) c.77-1499A>G (n.77-1499A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139051T>G | CA495780028 | SALL1 | c.3171A>C (p.Pro1057=) c.2880A>C (p.Pro960=) c.77-1499A>C (n.77-1499A>C) | |
| 16 | g.51139051T= | CA2222017327 | SALL1 | c.3171A= (p.Pro1057=) c.2880A= (p.Pro960=) c.77-1499A= (n.77-1499A=) | |
| 16 | g.51139052G>A | CA395881592 | SALL1 | c.3170C>T (p.Pro1057Leu) c.2879C>T (p.Pro960Leu) c.77-1500C>T (n.77-1500C>T) | |
| 16 | g.51139052G>C | CA395881599 | SALL1 | c.3170C>G (p.Pro1057Arg) c.2879C>G (p.Pro960Arg) c.77-1500C>G (n.77-1500C>G) | |
| 16 | g.51139052G>T | CA395881602 | SALL1 | c.3170C>A (p.Pro1057Gln) c.2879C>A (p.Pro960Gln) c.77-1500C>A (n.77-1500C>A) | |
| 16 | g.51139053G>A | CA395881604 | SALL1 | c.3169C>T (p.Pro1057Ser) c.2878C>T (p.Pro960Ser) c.77-1501C>T (n.77-1501C>T) | |
| 16 | g.51139053G>C | CA395881606 | SALL1 | c.3169C>G (p.Pro1057Ala) c.2878C>G (p.Pro960Ala) c.77-1501C>G (n.77-1501C>G) | |
| 16 | g.51139053G>T | CA395881608 | SALL1 | c.3169C>A (p.Pro1057Thr) c.2878C>A (p.Pro960Thr) c.77-1501C>A (n.77-1501C>A) | |
| 16 | g.51139054del | CA2695223341 | SALL1 | c.3168del (p.Pro1057HisfsTer19) c.2877del (p.Pro960HisfsTer19) c.77-1502del (n.77-1502del) | |
| 16 | g.51139054C>A | CA495780030 | SALL1 | c.3168G>T (p.Leu1056=) c.2877G>T (p.Leu959=) c.77-1502G>T (n.77-1502G>T) | |
| 16 | g.51139054C>G | CA495780031 | SALL1 | c.3168G>C (p.Leu1056=) c.2877G>C (p.Leu959=) c.77-1502G>C (n.77-1502G>C) | |
| 16 | g.51139054C>T | CA495780032 | SALL1 | c.3168G>A (p.Leu1056=) c.2877G>A (p.Leu959=) c.77-1502G>A (n.77-1502G>A) | dbSNP gnomAD v4 |
| 16 | g.51139055A>C | CA395881611 | SALL1 | c.3167T>G (p.Leu1056Arg) c.2876T>G (p.Leu959Arg) c.77-1503T>G (n.77-1503T>G) | |
| 16 | g.51139055A>G | CA395881613 | SALL1 | c.3167T>C (p.Leu1056Pro) c.2876T>C (p.Leu959Pro) c.77-1503T>C (n.77-1503T>C) | |
| 16 | g.51139055A>T | CA395881614 | SALL1 | c.3167T>A (p.Leu1056Gln) c.2876T>A (p.Leu959Gln) c.77-1503T>A (n.77-1503T>A) | |
| 16 | g.51139056G>A | CA495780033 | SALL1 | c.3166C>T (p.Leu1056=) c.2875C>T (p.Leu959=) c.77-1504C>T (n.77-1504C>T) | dbSNP gnomAD v4 COSMIC |
| 16 | g.51139056G>C | CA395881616 | SALL1 | c.3166C>G (p.Leu1056Val) c.2875C>G (p.Leu959Val) c.77-1504C>G (n.77-1504C>G) | |
| 16 | g.51139056G= | CA2222017330 | SALL1 | c.3166C= (p.Leu1056=) c.2875C= (p.Leu959=) c.77-1504C= (n.77-1504C=) | |
| 16 | g.51139056G>T | CA395881619 | SALL1 | c.3166C>A (p.Leu1056Met) c.2875C>A (p.Leu959Met) c.77-1504C>A (n.77-1504C>A) | |
| 16 | g.51139057A>C | CA395881621 | SALL1 | c.3165T>G (p.Asp1055Glu) c.2874T>G (p.Asp958Glu) c.77-1505T>G (n.77-1505T>G) | |
| 16 | g.51139057A>G | CA495780035 | SALL1 | c.3165T>C (p.Asp1055=) c.2874T>C (p.Asp958=) c.77-1505T>C (n.77-1505T>C) | |
| 16 | g.51139057A>T | CA395881623 | SALL1 | c.3165T>A (p.Asp1055Glu) c.2874T>A (p.Asp958Glu) c.77-1505T>A (n.77-1505T>A) | |
| 16 | g.51139058T>A | CA281300783 | SALL1 | c.3164A>T (p.Asp1055Val) c.2873A>T (p.Asp958Val) c.77-1506A>T (n.77-1506A>T) | dbSNP |
| 16 | g.51139058T>C | CA395881628 | SALL1 | c.3164A>G (p.Asp1055Gly) c.2873A>G (p.Asp958Gly) c.77-1506A>G (n.77-1506A>G) | |
| 16 | g.51139058T>G | CA395881626 | SALL1 | c.3164A>C (p.Asp1055Ala) c.2873A>C (p.Asp958Ala) c.77-1506A>C (n.77-1506A>C) | |
| 16 | g.51139058T= | CA2222017336 | SALL1 | c.3164A= (p.Asp1055=) c.2873A= (p.Asp958=) c.77-1506A= (n.77-1506A=) | |
| 16 | g.51139059C>A | CA395881631 | SALL1 | c.3163G>T (p.Asp1055Tyr) c.2872G>T (p.Asp958Tyr) c.77-1507G>T (n.77-1507G>T) | |
| 16 | g.51139059C= | CA2222017338 | SALL1 | c.3163G= (p.Asp1055=) c.2872G= (p.Asp958=) c.77-1507G= (n.77-1507G=) | |
| 16 | g.51139059C>G | CA8052983 | SALL1 | c.3163G>C (p.Asp1055His) c.2872G>C (p.Asp958His) c.77-1507G>C (n.77-1507G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51139059C>T | CA395881636 | SALL1 | c.3163G>A (p.Asp1055Asn) c.2872G>A (p.Asp958Asn) c.77-1507G>A (n.77-1507G>A) | |
| 16 | g.51139060T>A | CA495780036 | SALL1 | c.3162A>T (p.Arg1054=) c.2871A>T (p.Arg957=) c.77-1508A>T (n.77-1508A>T) | |
| 16 | g.51139060T>C | CA495780037 | SALL1 | c.3162A>G (p.Arg1054=) c.2871A>G (p.Arg957=) c.77-1508A>G (n.77-1508A>G) | |
| 16 | g.51139060T>G | CA495780038 | SALL1 | c.3162A>C (p.Arg1054=) c.2871A>C (p.Arg957=) c.77-1508A>C (n.77-1508A>C) | |
| 16 | g.51139061C>A | CA395881638 | SALL1 | c.3161G>T (p.Arg1054Leu) c.2870G>T (p.Arg957Leu) c.77-1509G>T (n.77-1509G>T) | |
| 16 | g.51139061C= | CA2222017343 | SALL1 | c.3161G= (p.Arg1054=) c.2870G= (p.Arg957=) c.77-1509G= (n.77-1509G=) | |
| 16 | g.51139061C>G | CA8052984 | SALL1 | c.3161G>C (p.Arg1054Pro) c.2870G>C (p.Arg957Pro) c.77-1509G>C (n.77-1509G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51139061C>T | CA395881641 | SALL1 | c.3161G>A (p.Arg1054Gln) c.2870G>A (p.Arg957Gln) c.77-1509G>A (n.77-1509G>A) | dbSNP COSMIC |
| 16 | g.51139062G>A | CA347917 | SALL1 | c.3160C>T (p.Arg1054Ter) c.2869C>T (p.Arg957Ter) c.77-1510C>T (n.77-1510C>T) | ClinVar dbSNP COSMIC |
| 16 | g.51139062G>C | CA395881644 | SALL1 | c.3160C>G (p.Arg1054Gly) c.2869C>G (p.Arg957Gly) c.77-1510C>G (n.77-1510C>G) | |
| 16 | g.51139062G= | CA2222017353 | SALL1 | c.3160C= (p.Arg1054=) c.2869C= (p.Arg957=) c.77-1510C= (n.77-1510C=) | |
| 16 | g.51139062G>T | CA495780041 | SALL1 | c.3160C>A (p.Arg1054=) c.2869C>A (p.Arg957=) c.77-1510C>A (n.77-1510C>A) | gnomAD v4 |
| 16 | g.51139063C>A | CA395881648 | SALL1 | c.3159G>T (p.Met1053Ile) c.2868G>T (p.Met956Ile) c.77-1511G>T (n.77-1511G>T) | |
| 16 | g.51139063C>G | CA395881651 | SALL1 | c.3159G>C (p.Met1053Ile) c.2868G>C (p.Met956Ile) c.77-1511G>C (n.77-1511G>C) | |
| 16 | g.51139063C>T | CA395881652 | SALL1 | c.3159G>A (p.Met1053Ile) c.2868G>A (p.Met956Ile) c.77-1511G>A (n.77-1511G>A) | gnomAD v4 |
| 16 | g.51139064A>C | CA395881655 | SALL1 | c.3158T>G (p.Met1053Arg) c.2867T>G (p.Met956Arg) c.77-1512T>G (n.77-1512T>G) | |
| 16 | g.51139064A>G | CA395881657 | SALL1 | c.3158T>C (p.Met1053Thr) c.2867T>C (p.Met956Thr) c.77-1512T>C (n.77-1512T>C) | gnomAD v4 |
| 16 | g.51139064A>T | CA395881660 | SALL1 | c.3158T>A (p.Met1053Lys) c.2867T>A (p.Met956Lys) c.77-1512T>A (n.77-1512T>A) | |
| 16 | g.51139065T>A | CA395881662 | SALL1 | c.3157A>T (p.Met1053Leu) c.2866A>T (p.Met956Leu) c.77-1513A>T (n.77-1513A>T) | |
| 16 | g.51139065T>C | CA395881664 | SALL1 | c.3157A>G (p.Met1053Val) c.2866A>G (p.Met956Val) c.77-1513A>G (n.77-1513A>G) | gnomAD v4 |
| 16 | g.51139065T>G | CA16607036 | SALL1 | c.3157A>C (p.Met1053Leu) c.2866A>C (p.Met956Leu) c.77-1513A>C (n.77-1513A>C) | ClinVar dbSNP |
| 16 | g.51139065T= | CA2222017359 | SALL1 | c.3157A= (p.Met1053=) c.2866A= (p.Met956=) c.77-1513A= (n.77-1513A=) | |
| 16 | g.51139066C>A | CA395881667 | SALL1 | c.3156G>T (p.Gln1052His) c.2865G>T (p.Gln955His) c.77-1514G>T (n.77-1514G>T) | |
| 16 | g.51139066C= | CA2222017366 | SALL1 | c.3156G= (p.Gln1052=) c.2865G= (p.Gln955=) c.77-1514G= (n.77-1514G=) | |
| 16 | g.51139066C>G | CA281300818 | SALL1 | c.3156G>C (p.Gln1052His) c.2865G>C (p.Gln955His) c.77-1514G>C (n.77-1514G>C) | dbSNP |
| 16 | g.51139066C>T | CA495780043 | SALL1 | c.3156G>A (p.Gln1052=) c.2865G>A (p.Gln955=) c.77-1514G>A (n.77-1514G>A) | |
| 16 | g.51139067T>A | CA395881671 | SALL1 | c.3155A>T (p.Gln1052Leu) c.2864A>T (p.Gln955Leu) c.77-1515A>T (n.77-1515A>T) | |
| 16 | g.51139067T>C | CA395881673 | SALL1 | c.3155A>G (p.Gln1052Arg) c.2864A>G (p.Gln955Arg) c.77-1515A>G (n.77-1515A>G) | dbSNP gnomAD v2 |
| 16 | g.51139067T>G | CA395881676 | SALL1 | c.3155A>C (p.Gln1052Pro) c.2864A>C (p.Gln955Pro) c.77-1515A>C (n.77-1515A>C) | |
| 16 | g.51139067T= | CA2222017367 | SALL1 | c.3155A= (p.Gln1052=) c.2864A= (p.Gln955=) c.77-1515A= (n.77-1515A=) | |
| 16 | g.51139068G>A | CA16042991 | SALL1 | c.3154C>T (p.Gln1052Ter) c.2863C>T (p.Gln955Ter) c.77-1516C>T (n.77-1516C>T) | ClinVar dbSNP COSMIC |
| 16 | g.51139068G>C | CA395881681 | SALL1 | c.3154C>G (p.Gln1052Glu) c.2863C>G (p.Gln955Glu) c.77-1516C>G (n.77-1516C>G) | gnomAD v4 |
| 16 | g.51139068G= | CA2222017373 | SALL1 | c.3154C= (p.Gln1052=) c.2863C= (p.Gln955=) c.77-1516C= (n.77-1516C=) | |
| 16 | g.51139068G>T | CA395881683 | SALL1 | c.3154C>A (p.Gln1052Lys) c.2863C>A (p.Gln955Lys) c.77-1516C>A (n.77-1516C>A) | |
| 16 | g.51139069A>C | CA395881685 | SALL1 | c.3153T>G (p.His1051Gln) c.2862T>G (p.His954Gln) c.77-1517T>G (n.77-1517T>G) | |
| 16 | g.51139069A>G | CA495779868 | SALL1 | c.3153T>C (p.His1051=) c.2862T>C (p.His954=) c.77-1517T>C (n.77-1517T>C) | |
| 16 | g.51139069A>T | CA395881687 | SALL1 | c.3153T>A (p.His1051Gln) c.2862T>A (p.His954Gln) c.77-1517T>A (n.77-1517T>A) | gnomAD v4 |
| 16 | g.51139070T>A | CA395881691 | SALL1 | c.3152A>T (p.His1051Leu) c.2861A>T (p.His954Leu) c.77-1518A>T (n.77-1518A>T) | |
| 16 | g.51139070T>C | CA395881694 | SALL1 | c.3152A>G (p.His1051Arg) c.2861A>G (p.His954Arg) c.77-1518A>G (n.77-1518A>G) | |
| 16 | g.51139070T>G | CA395881692 | SALL1 | c.3152A>C (p.His1051Pro) c.2861A>C (p.His954Pro) c.77-1518A>C (n.77-1518A>C) | |
| 16 | g.51139071G>A | CA395881696 | SALL1 | c.3151C>T (p.His1051Tyr) c.2860C>T (p.His954Tyr) c.77-1519C>T (n.77-1519C>T) | |
| 16 | g.51139071G>C | CA395881702 | SALL1 | c.3151C>G (p.His1051Asp) c.2860C>G (p.His954Asp) c.77-1519C>G (n.77-1519C>G) | |
| 16 | g.51139071G>T | CA395881699 | SALL1 | c.3151C>A (p.His1051Asn) c.2860C>A (p.His954Asn) c.77-1519C>A (n.77-1519C>A) | |
| 16 | g.51139072T>A | CA495779873 | SALL1 | c.3150A>T (p.Thr1050=) c.2859A>T (p.Thr953=) c.77-1520A>T (n.77-1520A>T) | |
| 16 | g.51139072T>C | CA495779874 | SALL1 | c.3150A>G (p.Thr1050=) c.2859A>G (p.Thr953=) c.77-1520A>G (n.77-1520A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139072T>G | CA495779875 | SALL1 | c.3150A>C (p.Thr1050=) c.2859A>C (p.Thr953=) c.77-1520A>C (n.77-1520A>C) | gnomAD v4 |
| 16 | g.51139072T= | CA2222017378 | SALL1 | c.3150A= (p.Thr1050=) c.2859A= (p.Thr953=) c.77-1520A= (n.77-1520A=) | |
| 16 | g.51139073G>A | CA395881705 | SALL1 | c.3149C>T (p.Thr1050Ile) c.2858C>T (p.Thr953Ile) c.77-1521C>T (n.77-1521C>T) | COSMIC |
| 16 | g.51139073G>C | CA395881708 | SALL1 | c.3149C>G (p.Thr1050Arg) c.2858C>G (p.Thr953Arg) c.77-1521C>G (n.77-1521C>G) | |
| 16 | g.51139073G>T | CA395881711 | SALL1 | c.3149C>A (p.Thr1050Lys) c.2858C>A (p.Thr953Lys) c.77-1521C>A (n.77-1521C>A) | |
| 16 | g.51139074T>A | CA395881714 | SALL1 | c.3148A>T (p.Thr1050Ser) c.2857A>T (p.Thr953Ser) c.77-1522A>T (n.77-1522A>T) | |
| 16 | g.51139074T>C | CA395881715 | SALL1 | c.3148A>G (p.Thr1050Ala) c.2857A>G (p.Thr953Ala) c.77-1522A>G (n.77-1522A>G) | |
| 16 | g.51139074T>G | CA395881716 | SALL1 | c.3148A>C (p.Thr1050Pro) c.2857A>C (p.Thr953Pro) c.77-1522A>C (n.77-1522A>C) | |
| 16 | g.51139075C>A | CA395881717 | SALL1 | c.3147G>T (p.Leu1049Phe) c.2856G>T (p.Leu952Phe) c.77-1523G>T (n.77-1523G>T) | |
| 16 | g.51139075C>G | CA395881718 | SALL1 | c.3147G>C (p.Leu1049Phe) c.2856G>C (p.Leu952Phe) c.77-1523G>C (n.77-1523G>C) | |
| 16 | g.51139075C>T | CA495779880 | SALL1 | c.3147G>A (p.Leu1049=) c.2856G>A (p.Leu952=) c.77-1523G>A (n.77-1523G>A) | |
| 16 | g.51139076A>C | CA395881721 | SALL1 | c.3146T>G (p.Leu1049Trp) c.2855T>G (p.Leu952Trp) c.77-1524T>G (n.77-1524T>G) | |
| 16 | g.51139076A>G | CA395881726 | SALL1 | c.3146T>C (p.Leu1049Ser) c.2855T>C (p.Leu952Ser) c.77-1524T>C (n.77-1524T>C) | |
| 16 | g.51139076A>T | CA395881729 | SALL1 | c.3146T>A (p.Leu1049Ter) c.2855T>A (p.Leu952Ter) c.77-1524T>A (n.77-1524T>A) | |
| 16 | g.51139077A>C | CA395881733 | SALL1 | c.3145T>G (p.Leu1049Val) c.2854T>G (p.Leu952Val) c.77-1525T>G (n.77-1525T>G) | |
| 16 | g.51139077A>G | CA495779885 | SALL1 | c.3145T>C (p.Leu1049=) c.2854T>C (p.Leu952=) c.77-1525T>C (n.77-1525T>C) | gnomAD v4 |
| 16 | g.51139077A>T | CA395881731 | SALL1 | c.3145T>A (p.Leu1049Met) c.2854T>A (p.Leu952Met) c.77-1525T>A (n.77-1525T>A) | |
| 16 | g.51139078C>A | CA395881735 | SALL1 | c.3144G>T (p.Met1048Ile) c.2853G>T (p.Met951Ile) c.77-1526G>T (n.77-1526G>T) | |
| 16 | g.51139078C>G | CA395881736 | SALL1 | c.3144G>C (p.Met1048Ile) c.2853G>C (p.Met951Ile) c.77-1526G>C (n.77-1526G>C) | |
| 16 | g.51139078C>T | CA395881738 | SALL1 | c.3144G>A (p.Met1048Ile) c.2853G>A (p.Met951Ile) c.77-1526G>A (n.77-1526G>A) | |
| 16 | g.51139079A= | CA2222017383 | SALL1 | c.3143T= (p.Met1048=) c.2852T= (p.Met951=) c.77-1527T= (n.77-1527T=) | |
| 16 | g.51139079A>C | CA8052985 | SALL1 | c.3143T>G (p.Met1048Arg) c.2852T>G (p.Met951Arg) c.77-1527T>G (n.77-1527T>G) | dbSNP ExAC gnomAD v2 |
| 16 | g.51139079A>G | CA395881741 | SALL1 | c.3143T>C (p.Met1048Thr) c.2852T>C (p.Met951Thr) c.77-1527T>C (n.77-1527T>C) | gnomAD v4 |
| 16 | g.51139079A>T | CA395881743 | SALL1 | c.3143T>A (p.Met1048Lys) c.2852T>A (p.Met951Lys) c.77-1527T>A (n.77-1527T>A) | |
| 16 | g.51139080T>A | CA395881747 | SALL1 | c.3142A>T (p.Met1048Leu) c.2851A>T (p.Met951Leu) c.77-1528A>T (n.77-1528A>T) | |
| 16 | g.51139080T>C | CA395881749 | SALL1 | c.3142A>G (p.Met1048Val) c.2851A>G (p.Met951Val) c.77-1528A>G (n.77-1528A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139080T>G | CA395881751 | SALL1 | c.3142A>C (p.Met1048Leu) c.2851A>C (p.Met951Leu) c.77-1528A>C (n.77-1528A>C) | |
| 16 | g.51139080T= | CA2222017388 | SALL1 | c.3142A= (p.Met1048=) c.2851A= (p.Met951=) c.77-1528A= (n.77-1528A=) | |
| 16 | g.51139081G>A | CA495779890 | SALL1 | c.3141C>T (p.His1047=) c.2850C>T (p.His950=) c.77-1529C>T (n.77-1529C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139081G>C | CA395881753 | SALL1 | c.3141C>G (p.His1047Gln) c.2850C>G (p.His950Gln) c.77-1529C>G (n.77-1529C>G) | |
| 16 | g.51139081G= | CA2222017393 | SALL1 | c.3141C= (p.His1047=) c.2850C= (p.His950=) c.77-1529C= (n.77-1529C=) | |
| 16 | g.51139081G>T | CA395881755 | SALL1 | c.3141C>A (p.His1047Gln) c.2850C>A (p.His950Gln) c.77-1529C>A (n.77-1529C>A) | |
| 16 | g.51139082T>A | CA395881758 | SALL1 | c.3140A>T (p.His1047Leu) c.2849A>T (p.His950Leu) c.77-1530A>T (n.77-1530A>T) | |
| 16 | g.51139082T>C | CA395881760 | SALL1 | c.3140A>G (p.His1047Arg) c.2849A>G (p.His950Arg) c.77-1530A>G (n.77-1530A>G) | |
| 16 | g.51139082T>G | CA395881756 | SALL1 | c.3140A>C (p.His1047Pro) c.2849A>C (p.His950Pro) c.77-1530A>C (n.77-1530A>C) | |
| 16 | g.51139083G>A | CA395881762 | SALL1 | c.3139C>T (p.His1047Tyr) c.2848C>T (p.His950Tyr) c.77-1531C>T (n.77-1531C>T) | COSMIC |
| 16 | g.51139083G>C | CA395881764 | SALL1 | c.3139C>G (p.His1047Asp) c.2848C>G (p.His950Asp) c.77-1531C>G (n.77-1531C>G) | |
| 16 | g.51139083G>T | CA395881766 | SALL1 | c.3139C>A (p.His1047Asn) c.2848C>A (p.His950Asn) c.77-1531C>A (n.77-1531C>A) | |
| 16 | g.51139084C>A | CA395881770 | SALL1 | c.3138G>T (p.Gln1046His) c.2847G>T (p.Gln949His) c.77-1532G>T (n.77-1532G>T) | |
| 16 | g.51139084C>G | CA395881772 | SALL1 | c.3138G>C (p.Gln1046His) c.2847G>C (p.Gln949His) c.77-1532G>C (n.77-1532G>C) | |
| 16 | g.51139084C>T | CA495779896 | SALL1 | c.3138G>A (p.Gln1046=) c.2847G>A (p.Gln949=) c.77-1532G>A (n.77-1532G>A) | |
| 16 | g.51139085T>A | CA395881779 | SALL1 | c.3137A>T (p.Gln1046Leu) c.2846A>T (p.Gln949Leu) c.77-1533A>T (n.77-1533A>T) | |
| 16 | g.51139085T>C | CA395881774 | SALL1 | c.3137A>G (p.Gln1046Arg) c.2846A>G (p.Gln949Arg) c.77-1533A>G (n.77-1533A>G) | |
| 16 | g.51139085T>G | CA395881776 | SALL1 | c.3137A>C (p.Gln1046Pro) c.2846A>C (p.Gln949Pro) c.77-1533A>C (n.77-1533A>C) | |
| 16 | g.51139086G>A | CA395881781 | SALL1 | c.3136C>T (p.Gln1046Ter) c.2845C>T (p.Gln949Ter) c.77-1534C>T (n.77-1534C>T) | |
| 16 | g.51139086G>C | CA395881783 | SALL1 | c.3136C>G (p.Gln1046Glu) c.2845C>G (p.Gln949Glu) c.77-1534C>G (n.77-1534C>G) | |
| 16 | g.51139086G>T | CA395881785 | SALL1 | c.3136C>A (p.Gln1046Lys) c.2845C>A (p.Gln949Lys) c.77-1534C>A (n.77-1534C>A) | |
| 16 | g.51139087C>A | CA395881787 | SALL1 | c.3135G>T (p.Lys1045Asn) c.2844G>T (p.Lys948Asn) c.77-1535G>T (n.77-1535G>T) | |
| 16 | g.51139087C>G | CA395881789 | SALL1 | c.3135G>C (p.Lys1045Asn) c.2844G>C (p.Lys948Asn) c.77-1535G>C (n.77-1535G>C) | |
| 16 | g.51139087C>T | CA495779902 | SALL1 | c.3135G>A (p.Lys1045=) c.2844G>A (p.Lys948=) c.77-1535G>A (n.77-1535G>A) | |
| 16 | g.51139088T>A | CA395881791 | SALL1 | c.3134A>T (p.Lys1045Met) c.2843A>T (p.Lys948Met) c.77-1536A>T (n.77-1536A>T) | |
| 16 | g.51139088T>C | CA395881794 | SALL1 | c.3134A>G (p.Lys1045Arg) c.2843A>G (p.Lys948Arg) c.77-1536A>G (n.77-1536A>G) | |
| 16 | g.51139088T>G | CA395881792 | SALL1 | c.3134A>C (p.Lys1045Thr) c.2843A>C (p.Lys948Thr) c.77-1536A>C (n.77-1536A>C) | |
| 16 | g.51139089T>A | CA395881798 | SALL1 | c.3133A>T (p.Lys1045Ter) c.2842A>T (p.Lys948Ter) c.77-1537A>T (n.77-1537A>T) | |
| 16 | g.51139089T>C | CA395881800 | SALL1 | c.3133A>G (p.Lys1045Glu) c.2842A>G (p.Lys948Glu) c.77-1537A>G (n.77-1537A>G) | |
| 16 | g.51139089T>G | CA395881802 | SALL1 | c.3133A>C (p.Lys1045Gln) c.2842A>C (p.Lys948Gln) c.77-1537A>C (n.77-1537A>C) | |
| 16 | g.51139090C>A | CA395881810 | SALL1 | c.3132G>T (p.Leu1044Phe) c.2841G>T (p.Leu947Phe) c.77-1538G>T (n.77-1538G>T) | |
| 16 | g.51139090C>G | CA395881814 | SALL1 | c.3132G>C (p.Leu1044Phe) c.2841G>C (p.Leu947Phe) c.77-1538G>C (n.77-1538G>C) | |
| 16 | g.51139090C>T | CA495779909 | SALL1 | c.3132G>A (p.Leu1044=) c.2841G>A (p.Leu947=) c.77-1538G>A (n.77-1538G>A) | |
| 16 | g.51139091A>C | CA395881818 | SALL1 | c.3131T>G (p.Leu1044Trp) c.2840T>G (p.Leu947Trp) c.77-1539T>G (n.77-1539T>G) | |
| 16 | g.51139091A>G | CA395881821 | SALL1 | c.3131T>C (p.Leu1044Ser) c.2840T>C (p.Leu947Ser) c.77-1539T>C (n.77-1539T>C) | |
| 16 | g.51139091A>T | CA395881824 | SALL1 | c.3131T>A (p.Leu1044Ter) c.2840T>A (p.Leu947Ter) c.77-1539T>A (n.77-1539T>A) | |
| 16 | g.51139092A= | CA2222017398 | SALL1 | c.3130T= (p.Leu1044=) c.2839T= (p.Leu947=) c.77-1540T= (n.77-1540T=) | |
| 16 | g.51139092A>C | CA395881826 | SALL1 | c.3130T>G (p.Leu1044Val) c.2839T>G (p.Leu947Val) c.77-1540T>G (n.77-1540T>G) | |
| 16 | g.51139092A>G | CA495779910 | SALL1 | c.3130T>C (p.Leu1044=) c.2839T>C (p.Leu947=) c.77-1540T>C (n.77-1540T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139092A>T | CA395881828 | SALL1 | c.3130T>A (p.Leu1044Met) c.2839T>A (p.Leu947Met) c.77-1540T>A (n.77-1540T>A) | |
| 16 | g.51139093A= | CA2222017403 | SALL1 | c.3129T= (p.Asn1043=) c.2838T= (p.Asn946=) c.77-1541T= (n.77-1541T=) | |
| 16 | g.51139093A>C | CA395881830 | SALL1 | c.3129T>G (p.Asn1043Lys) c.2838T>G (p.Asn946Lys) c.77-1541T>G (n.77-1541T>G) | |
| 16 | g.51139093A>G | CA495779914 | SALL1 | c.3129T>C (p.Asn1043=) c.2838T>C (p.Asn946=) c.77-1541T>C (n.77-1541T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139093A>T | CA395881831 | SALL1 | c.3129T>A (p.Asn1043Lys) c.2838T>A (p.Asn946Lys) c.77-1541T>A (n.77-1541T>A) | |
| 16 | g.51139093_51139094del | CA2739266761 | SALL1 | c.3128_3129del (p.Asn1043IlefsTer19) c.2837_2838del (p.Asn946IlefsTer19) c.77-1542_77-1541del (n.77-1542_77-1541del) | ClinVar |