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 |
|---|---|---|---|---|---|
| 6 | g.7579831T>A | CA362684531 | DSP | c.3641T>A (p.Ile1214Asn) c.3582+59T>A (n.3582+59T>A) | |
| 6 | g.7579831T>C | CA362684532 | DSP | c.3641T>C (p.Ile1214Thr) c.3582+59T>C (n.3582+59T>C) | |
| 6 | g.7579831T>G | CA362684533 | DSP | c.3641T>G (p.Ile1214Ser) c.3582+59T>G (n.3582+59T>G) | |
| 6 | g.7579832T>A | CA038569 | DSP | c.3642T>A (p.Ile1214=) c.3582+60T>A (n.3582+60T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579832T>C | CA448714360 | DSP | c.3642T>C (p.Ile1214=) c.3582+60T>C (n.3582+60T>C) | |
| 6 | g.7579832T>G | CA362684534 | DSP | c.3642T>G (p.Ile1214Met) c.3582+60T>G (n.3582+60T>G) | ClinVar dbSNP |
| 6 | g.7579832T= | CA1608614907 | DSP | c.3642T= (p.Ile1214=) c.3582+60T= (n.3582+60T=) | |
| 6 | g.7579833A= | CA1608614915 | DSP | c.3643A= (p.Asn1215=) c.3582+61A= (n.3582+61A=) | |
| 6 | g.7579833A>C | CA362684537 | DSP | c.3643A>C (p.Asn1215His) c.3582+61A>C (n.3582+61A>C) | |
| 6 | g.7579833A>G | CA362684536 | DSP | c.3643A>G (p.Asn1215Asp) c.3582+61A>G (n.3582+61A>G) | dbSNP gnomAD v4 |
| 6 | g.7579833A>T | CA362684535 | DSP | c.3643A>T (p.Asn1215Tyr) c.3582+61A>T (n.3582+61A>T) | |
| 6 | g.7579834A= | CA1608614924 | DSP | c.3644A= (p.Asn1215=) c.3582+62A= (n.3582+62A=) | |
| 6 | g.7579834A>C | CA362684538 | DSP | c.3644A>C (p.Asn1215Thr) c.3582+62A>C (n.3582+62A>C) | |
| 6 | g.7579834A>G | CA038586 | DSP | c.3644A>G (p.Asn1215Ser) c.3582+62A>G (n.3582+62A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579834A>T | CA362684539 | DSP | c.3644A>T (p.Asn1215Ile) c.3582+62A>T (n.3582+62A>T) | |
| 6 | g.7579835C>A | CA362684540 | DSP | c.3645C>A (p.Asn1215Lys) c.3582+63C>A (n.3582+63C>A) | |
| 6 | g.7579835C>G | CA362684541 | DSP | c.3645C>G (p.Asn1215Lys) c.3582+63C>G (n.3582+63C>G) | |
| 6 | g.7579835C>T | CA448714365 | DSP | c.3645C>T (p.Asn1215=) c.3582+63C>T (n.3582+63C>T) | gnomAD v4 |
| 6 | g.7579836A= | CA1608614932 | DSP | c.3646A= (p.Ile1216=) c.3582+64A= (n.3582+64A=) | |
| 6 | g.7579836A>C | CA362684542 | DSP | c.3646A>C (p.Ile1216Leu) c.3582+64A>C (n.3582+64A>C) | |
| 6 | g.7579836A>G | CA004419 | DSP | c.3646A>G (p.Ile1216Val) c.3582+64A>G (n.3582+64A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7579836A>T | CA362684543 | DSP | c.3646A>T (p.Ile1216Phe) c.3582+64A>T (n.3582+64A>T) | |
| 6 | g.7579837T>A | CA133968609 | DSP | c.3647T>A (p.Ile1216Asn) c.3582+65T>A (n.3582+65T>A) | dbSNP gnomAD v4 |
| 6 | g.7579837T>C | CA362684544 | DSP | c.3647T>C (p.Ile1216Thr) c.3582+65T>C (n.3582+65T>C) | gnomAD v4 |
| 6 | g.7579837T>G | CA362684545 | DSP | c.3647T>G (p.Ile1216Ser) c.3582+65T>G (n.3582+65T>G) | |
| 6 | g.7579837T= | CA1608614941 | DSP | c.3647T= (p.Ile1216=) c.3582+65T= (n.3582+65T=) | |
| 6 | g.7579838T>A | CA448714370 | DSP | c.3648T>A (p.Ile1216=) c.3582+66T>A (n.3582+66T>A) | |
| 6 | g.7579838T>C | CA448714368 | DSP | c.3648T>C (p.Ile1216=) c.3582+66T>C (n.3582+66T>C) | dbSNP |
| 6 | g.7579838T>G | CA362684546 | DSP | c.3648T>G (p.Ile1216Met) c.3582+66T>G (n.3582+66T>G) | |
| 6 | g.7579838T= | CA1608614943 | DSP | c.3648T= (p.Ile1216=) c.3582+66T= (n.3582+66T=) | |
| 6 | g.7579839A= | CA1608614950 | DSP | c.3649A= (p.Thr1217=) c.3582+67A= (n.3582+67A=) | |
| 6 | g.7579839A>C | CA362684547 | DSP | c.3649A>C (p.Thr1217Pro) c.3582+67A>C (n.3582+67A>C) | |
| 6 | g.7579839A>G | CA362684548 | DSP | c.3649A>G (p.Thr1217Ala) c.3582+67A>G (n.3582+67A>G) | |
| 6 | g.7579839A>T | CA038612 | DSP | c.3649A>T (p.Thr1217Ser) c.3582+67A>T (n.3582+67A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579840C>A | CA362684550 | DSP | c.3650C>A (p.Thr1217Lys) c.3582+68C>A (n.3582+68C>A) | |
| 6 | g.7579840C= | CA1608614959 | DSP | c.3650C= (p.Thr1217=) c.3582+68C= (n.3582+68C=) | |
| 6 | g.7579840C>G | CA362684549 | DSP | c.3650C>G (p.Thr1217Arg) c.3582+68C>G (n.3582+68C>G) | |
| 6 | g.7579840C>T | CA004431 | DSP | c.3650C>T (p.Thr1217Met) c.3582+68C>T (n.3582+68C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7579841G>A | CA16605079 | DSP | c.3651G>A (p.Thr1217=) c.3582+69G>A (n.3582+69G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7579841G>C | CA448714374 | DSP | c.3651G>C (p.Thr1217=) c.3582+69G>C (n.3582+69G>C) | dbSNP gnomAD v4 |
| 6 | g.7579841G= | CA1608614964 | DSP | c.3651G= (p.Thr1217=) c.3582+69G= (n.3582+69G=) | |
| 6 | g.7579841G>T | CA448714375 | DSP | c.3651G>T (p.Thr1217=) c.3582+69G>T (n.3582+69G>T) | |
| 6 | g.7579842A>C | CA362684551 | DSP | c.3652A>C (p.Lys1218Gln) c.3582+70A>C (n.3582+70A>C) | |
| 6 | g.7579842A>G | CA362684552 | DSP | c.3652A>G (p.Lys1218Glu) c.3582+70A>G (n.3582+70A>G) | |
| 6 | g.7579842A>T | CA362684553 | DSP | c.3652A>T (p.Lys1218Ter) c.3582+70A>T (n.3582+70A>T) | |
| 6 | g.7579843A>C | CA362684554 | DSP | c.3653A>C (p.Lys1218Thr) c.3582+71A>C (n.3582+71A>C) | |
| 6 | g.7579843A>G | CA362684555 | DSP | c.3653A>G (p.Lys1218Arg) c.3582+71A>G (n.3582+71A>G) | |
| 6 | g.7579843A>T | CA362684556 | DSP | c.3653A>T (p.Lys1218Met) c.3582+71A>T (n.3582+71A>T) | COSMIC |
| 6 | g.7579844G>A | CA448714376 | DSP | c.3654G>A (p.Lys1218=) c.3582+72G>A (n.3582+72G>A) | |
| 6 | g.7579844G>C | CA038649 | DSP | c.3654G>C (p.Lys1218Asn) c.3582+72G>C (n.3582+72G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579844G= | CA1608614971 | DSP | c.3654G= (p.Lys1218=) c.3582+72G= (n.3582+72G=) | |
| 6 | g.7579844G>T | CA362684557 | DSP | c.3654G>T (p.Lys1218Asn) c.3582+72G>T (n.3582+72G>T) | |
| 6 | g.7579845A= | CA1608614974 | DSP | c.3655A= (p.Thr1219=) c.3582+73A= (n.3582+73A=) | |
| 6 | g.7579845A>C | CA362684558 | DSP | c.3655A>C (p.Thr1219Pro) c.3582+73A>C (n.3582+73A>C) | |
| 6 | g.7579845A>G | CA038664 | DSP | c.3655A>G (p.Thr1219Ala) c.3582+73A>G (n.3582+73A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7579845A>T | CA362684559 | DSP | c.3655A>T (p.Thr1219Ser) c.3582+73A>T (n.3582+73A>T) | |
| 6 | g.7579845_7579848del | CA2695206008 | DSP | c.3655_3658del (p.Thr1219ProfsTer30) c.3582+73_3582+76del (n.3582+73_3582+76del) | |
| 6 | g.7579846C>A | CA362684562 | DSP | c.3656C>A (p.Thr1219Asn) c.3582+74C>A (n.3582+74C>A) | ClinVar |
| 6 | g.7579846C>G | CA362684561 | DSP | c.3656C>G (p.Thr1219Ser) c.3582+74C>G (n.3582+74C>G) | |
| 6 | g.7579846C>T | CA362684560 | DSP | c.3656C>T (p.Thr1219Ile) c.3582+74C>T (n.3582+74C>T) | |
| 6 | g.7579847C>A | CA448714380 | DSP | c.3657C>A (p.Thr1219=) c.3582+75C>A (n.3582+75C>A) | |
| 6 | g.7579847C= | CA1608614979 | DSP | c.3657C= (p.Thr1219=) c.3582+75C= (n.3582+75C=) | |
| 6 | g.7579847C>G | CA448714381 | DSP | c.3657C>G (p.Thr1219=) c.3582+75C>G (n.3582+75C>G) | |
| 6 | g.7579847C>T | CA448714382 | DSP | c.3657C>T (p.Thr1219=) c.3582+75C>T (n.3582+75C>T) | dbSNP |
| 6 | g.7579848A>C | CA362684563 | DSP | c.3658A>C (p.Thr1220Pro) c.3582+76A>C (n.3582+76A>C) | |
| 6 | g.7579848A>G | CA362684564 | DSP | c.3658A>G (p.Thr1220Ala) c.3582+76A>G (n.3582+76A>G) | |
| 6 | g.7579848A>T | CA362684565 | DSP | c.3658A>T (p.Thr1220Ser) c.3582+76A>T (n.3582+76A>T) | |
| 6 | g.7579849C>A | CA362684566 | DSP | c.3659C>A (p.Thr1220Asn) c.3582+77C>A (n.3582+77C>A) | |
| 6 | g.7579849C= | CA1608614982 | DSP | c.3659C= (p.Thr1220=) c.3582+77C= (n.3582+77C=) | |
| 6 | g.7579849C>G | CA362684567 | DSP | c.3659C>G (p.Thr1220Ser) c.3582+77C>G (n.3582+77C>G) | |
| 6 | g.7579849C>T | CA362684568 | DSP | c.3659C>T (p.Thr1220Ile) c.3582+77C>T (n.3582+77C>T) | dbSNP |
| 6 | g.7579850C>A | CA448714384 | DSP | c.3660C>A (p.Thr1220=) c.3582+78C>A (n.3582+78C>A) | |
| 6 | g.7579850C= | CA1608614986 | DSP | c.3660C= (p.Thr1220=) c.3582+78C= (n.3582+78C=) | |
| 6 | g.7579850C>G | CA448714388 | DSP | c.3660C>G (p.Thr1220=) c.3582+78C>G (n.3582+78C>G) | |
| 6 | g.7579850C>T | CA038684 | DSP | c.3660C>T (p.Thr1220=) c.3582+78C>T (n.3582+78C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579851A= | CA1608614995 | DSP | c.3661A= (p.Ile1221=) c.3582+79A= (n.3582+79A=) | |
| 6 | g.7579851A>C | CA362684569 | DSP | c.3661A>C (p.Ile1221Leu) c.3582+79A>C (n.3582+79A>C) | |
| 6 | g.7579851A>G | CA004450 | DSP | c.3661A>G (p.Ile1221Val) c.3582+79A>G (n.3582+79A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579851A>T | CA362684570 | DSP | c.3661A>T (p.Ile1221Phe) c.3582+79A>T (n.3582+79A>T) | |
| 6 | g.7579852T>A | CA362684571 | DSP | c.3662T>A (p.Ile1221Asn) c.3582+80T>A (n.3582+80T>A) | |
| 6 | g.7579852T>C | CA362684572 | DSP | c.3662T>C (p.Ile1221Thr) c.3582+80T>C (n.3582+80T>C) | |
| 6 | g.7579852T>G | CA362684573 | DSP | c.3662T>G (p.Ile1221Ser) c.3582+80T>G (n.3582+80T>G) | |
| 6 | g.7579853C>A | CA448714546 | DSP | c.3663C>A (p.Ile1221=) c.3582+81C>A (n.3582+81C>A) | |
| 6 | g.7579853C>G | CA362684574 | DSP | c.3663C>G (p.Ile1221Met) c.3582+81C>G (n.3582+81C>G) | |
| 6 | g.7579853C>T | CA448714547 | DSP | c.3663C>T (p.Ile1221=) c.3582+81C>T (n.3582+81C>T) | ClinVar dbSNP |
| 6 | g.7579854A= | CA1608615002 | DSP | c.3664A= (p.Lys1222=) c.3582+82A= (n.3582+82A=) | |
| 6 | g.7579854A>C | CA362684575 | DSP | c.3664A>C (p.Lys1222Gln) c.3582+82A>C (n.3582+82A>C) | dbSNP |
| 6 | g.7579854A>G | CA362684577 | DSP | c.3664A>G (p.Lys1222Glu) c.3582+82A>G (n.3582+82A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579854A>T | CA362684576 | DSP | c.3664A>T (p.Lys1222Ter) c.3582+82A>T (n.3582+82A>T) | |
| 6 | g.7579855A>C | CA362684578 | DSP | c.3665A>C (p.Lys1222Thr) c.3582+83A>C (n.3582+83A>C) | |
| 6 | g.7579855A>G | CA362684579 | DSP | c.3665A>G (p.Lys1222Arg) c.3582+83A>G (n.3582+83A>G) | |
| 6 | g.7579855A>T | CA362684580 | DSP | c.3665A>T (p.Lys1222Met) c.3582+83A>T (n.3582+83A>T) | |
| 6 | g.7579856G>A | CA448714550 | DSP | c.3666G>A (p.Lys1222=) c.3582+84G>A (n.3582+84G>A) | |
| 6 | g.7579856G>C | CA362684581 | DSP | c.3666G>C (p.Lys1222Asn) c.3582+84G>C (n.3582+84G>C) | |
| 6 | g.7579856G>T | CA362684582 | DSP | c.3666G>T (p.Lys1222Asn) c.3582+84G>T (n.3582+84G>T) | |
| 6 | g.7579857G>A | CA362684583 | DSP | c.3667G>A (p.Glu1223Lys) c.3582+85G>A (n.3582+85G>A) | ClinVar |
| 6 | g.7579857G>C | CA362684584 | DSP | c.3667G>C (p.Glu1223Gln) c.3582+85G>C (n.3582+85G>C) | |
| 6 | g.7579857G>T | CA362684585 | DSP | c.3667G>T (p.Glu1223Ter) c.3582+85G>T (n.3582+85G>T) | |
| 6 | g.7579858A>C | CA362684586 | DSP | c.3668A>C (p.Glu1223Ala) c.3582+86A>C (n.3582+86A>C) | |
| 6 | g.7579858A>G | CA362684587 | DSP | c.3668A>G (p.Glu1223Gly) c.3582+86A>G (n.3582+86A>G) | |
| 6 | g.7579858A>T | CA362684588 | DSP | c.3668A>T (p.Glu1223Val) c.3582+86A>T (n.3582+86A>T) | |
| 6 | g.7579859G>A | CA448714553 | DSP | c.3669G>A (p.Glu1223=) c.3582+87G>A (n.3582+87G>A) | |
| 6 | g.7579859G>C | CA362684590 | DSP | c.3669G>C (p.Glu1223Asp) c.3582+87G>C (n.3582+87G>C) | |
| 6 | g.7579859G= | CA1608615006 | DSP | c.3669G= (p.Glu1223=) c.3582+87G= (n.3582+87G=) | |
| 6 | g.7579859G>T | CA362684589 | DSP | c.3669G>T (p.Glu1223Asp) c.3582+87G>T (n.3582+87G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579860A>C | CA362684591 | DSP | c.3670A>C (p.Ile1224Leu) c.3582+88A>C (n.3582+88A>C) | |
| 6 | g.7579860A>G | CA362684593 | DSP | c.3670A>G (p.Ile1224Val) c.3582+88A>G (n.3582+88A>G) | |
| 6 | g.7579860A>T | CA362684592 | DSP | c.3670A>T (p.Ile1224Leu) c.3582+88A>T (n.3582+88A>T) | |
| 6 | g.7579861T>A | CA362684594 | DSP | c.3671T>A (p.Ile1224Lys) c.3582+89T>A (n.3582+89T>A) | |
| 6 | g.7579861T>C | CA362684595 | DSP | c.3671T>C (p.Ile1224Thr) c.3582+89T>C (n.3582+89T>C) | |
| 6 | g.7579861T>G | CA362684596 | DSP | c.3671T>G (p.Ile1224Arg) c.3582+89T>G (n.3582+89T>G) | |
| 6 | g.7579862A>C | CA448714555 | DSP | c.3672A>C (p.Ile1224=) c.3582+90A>C (n.3582+90A>C) | ClinVar |
| 6 | g.7579862A>G | CA362684597 | DSP | c.3672A>G (p.Ile1224Met) c.3582+90A>G (n.3582+90A>G) | |
| 6 | g.7579862A>T | CA448714557 | DSP | c.3672A>T (p.Ile1224=) c.3582+90A>T (n.3582+90A>T) | |
| 6 | g.7579863T>A | CA362684598 | DSP | c.3673T>A (p.Ser1225Thr) c.3582+91T>A (n.3582+91T>A) | |
| 6 | g.7579863T>C | CA362684599 | DSP | c.3673T>C (p.Ser1225Pro) c.3582+91T>C (n.3582+91T>C) | ClinVar dbSNP |
| 6 | g.7579863T>G | CA362684600 | DSP | c.3673T>G (p.Ser1225Ala) c.3582+91T>G (n.3582+91T>G) | |
| 6 | g.7579863T= | CA1608615011 | DSP | c.3673T= (p.Ser1225=) c.3582+91T= (n.3582+91T=) | |
| 6 | g.7579864C>A | CA362684601 | DSP | c.3674C>A (p.Ser1225Tyr) c.3582+92C>A (n.3582+92C>A) | dbSNP gnomAD v4 |
| 6 | g.7579864C= | CA1608615015 | DSP | c.3674C= (p.Ser1225=) c.3582+92C= (n.3582+92C=) | |
| 6 | g.7579864C>G | CA362684602 | DSP | c.3674C>G (p.Ser1225Cys) c.3582+92C>G (n.3582+92C>G) | |
| 6 | g.7579864C>T | CA362684603 | DSP | c.3674C>T (p.Ser1225Phe) c.3582+92C>T (n.3582+92C>T) | dbSNP gnomAD v4 |
| 6 | g.7579865C>A | CA448714560 | DSP | c.3675C>A (p.Ser1225=) c.3582+93C>A (n.3582+93C>A) | |
| 6 | g.7579865C>G | CA448714561 | DSP | c.3675C>G (p.Ser1225=) c.3582+93C>G (n.3582+93C>G) | COSMIC |
| 6 | g.7579865C>T | CA448714562 | DSP | c.3675C>T (p.Ser1225=) c.3582+93C>T (n.3582+93C>T) | gnomAD v4 |
| 6 | g.7579866A= | CA1608615022 | DSP | c.3676A= (p.Met1226=) c.3582+94A= (n.3582+94A=) | |
| 6 | g.7579866A>C | CA362684604 | DSP | c.3676A>C (p.Met1226Leu) c.3582+94A>C (n.3582+94A>C) | |
| 6 | g.7579866A>G | CA038699 | DSP | c.3676A>G (p.Met1226Val) c.3582+94A>G (n.3582+94A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579866A>T | CA362684605 | DSP | c.3676A>T (p.Met1226Leu) c.3582+94A>T (n.3582+94A>T) | |
| 6 | g.7579867T>A | CA362684606 | DSP | c.3677T>A (p.Met1226Lys) c.3582+95T>A (n.3582+95T>A) | dbSNP gnomAD v2 |
| 6 | g.7579867T>C | CA362684608 | DSP | c.3677T>C (p.Met1226Thr) c.3582+95T>C (n.3582+95T>C) | gnomAD v4 |
| 6 | g.7579867T>G | CA362684607 | DSP | c.3677T>G (p.Met1226Arg) c.3582+95T>G (n.3582+95T>G) | gnomAD v4 |
| 6 | g.7579867T= | CA1608615046 | DSP | c.3677T= (p.Met1226=) c.3582+95T= (n.3582+95T=) | |
| 6 | g.7579868G>A | CA362684609 | DSP | c.3678G>A (p.Met1226Ile) c.3582+96G>A (n.3582+96G>A) | |
| 6 | g.7579868G>C | CA362684610 | DSP | c.3678G>C (p.Met1226Ile) c.3582+96G>C (n.3582+96G>C) | |
| 6 | g.7579868G>T | CA362684611 | DSP | c.3678G>T (p.Met1226Ile) c.3582+96G>T (n.3582+96G>T) | |
| 6 | g.7579869C>A | CA362684612 | DSP | c.3679C>A (p.Gln1227Lys) c.3582+97C>A (n.3582+97C>A) | |
| 6 | g.7579869C= | CA1608615053 | DSP | c.3679C= (p.Gln1227=) c.3582+97C= (n.3582+97C=) | |
| 6 | g.7579869C>G | CA362684613 | DSP | c.3679C>G (p.Gln1227Glu) c.3582+97C>G (n.3582+97C>G) | dbSNP |
| 6 | g.7579869C>T | CA362684614 | DSP | c.3679C>T (p.Gln1227Ter) c.3582+97C>T (n.3582+97C>T) | ClinVar dbSNP |
| 6 | g.7579870A= | CA1608615057 | DSP | c.3680A= (p.Gln1227=) c.3582+98A= (n.3582+98A=) | |
| 6 | g.7579870A>C | CA362684615 | DSP | c.3680A>C (p.Gln1227Pro) c.3582+98A>C (n.3582+98A>C) | ClinVar dbSNP |
| 6 | g.7579870A>G | CA362684616 | DSP | c.3680A>G (p.Gln1227Arg) c.3582+98A>G (n.3582+98A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579870A>T | CA362684617 | DSP | c.3680A>T (p.Gln1227Leu) c.3582+98A>T (n.3582+98A>T) | |
| 6 | g.7579874del | CA2580075400 | DSP | c.3684del (p.Glu1229ArgfsTer21) c.3582+102del (n.3582+102del) | ClinVar |
| 6 | g.7579871A>C | CA362684618 | DSP | c.3681A>C (p.Gln1227His) c.3582+99A>C (n.3582+99A>C) | |
| 6 | g.7579871A>G | CA448714570 | DSP | c.3681A>G (p.Gln1227=) c.3582+99A>G (n.3582+99A>G) | |
| 6 | g.7579871A>T | CA362684619 | DSP | c.3681A>T (p.Gln1227His) c.3582+99A>T (n.3582+99A>T) | |
| 6 | g.7579872A>C | CA362684622 | DSP | c.3682A>C (p.Lys1228Gln) c.3582+100A>C (n.3582+100A>C) | |
| 6 | g.7579872A>G | CA362684621 | DSP | c.3682A>G (p.Lys1228Glu) c.3582+100A>G (n.3582+100A>G) | |
| 6 | g.7579872A>T | CA362684620 | DSP | c.3682A>T (p.Lys1228Ter) c.3582+100A>T (n.3582+100A>T) | |
| 6 | g.7579873A>C | CA362684625 | DSP | c.3683A>C (p.Lys1228Thr) c.3582+101A>C (n.3582+101A>C) | |
| 6 | g.7579873A>G | CA362684623 | DSP | c.3683A>G (p.Lys1228Arg) c.3582+101A>G (n.3582+101A>G) | gnomAD v4 |
| 6 | g.7579873A>T | CA362684624 | DSP | c.3683A>T (p.Lys1228Ile) c.3582+101A>T (n.3582+101A>T) | |
| 6 | g.7579874A= | CA1608615066 | DSP | c.3684A= (p.Lys1228=) c.3582+102A= (n.3582+102A=) | |
| 6 | g.7579874A>C | CA362684626 | DSP | c.3684A>C (p.Lys1228Asn) c.3582+102A>C (n.3582+102A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579874A>G | CA038709 | DSP | c.3684A>G (p.Lys1228=) c.3582+102A>G (n.3582+102A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579874A>T | CA362684627 | DSP | c.3684A>T (p.Lys1228Asn) c.3582+102A>T (n.3582+102A>T) | ClinVar |
| 6 | g.7579875G>A | CA038718 | DSP | c.3685G>A (p.Glu1229Lys) c.3582+103G>A (n.3582+103G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579875G>C | CA362684628 | DSP | c.3685G>C (p.Glu1229Gln) c.3582+103G>C (n.3582+103G>C) | gnomAD v4 |
| 6 | g.7579875G= | CA1608615074 | DSP | c.3685G= (p.Glu1229=) c.3582+103G= (n.3582+103G=) | |
| 6 | g.7579875G>T | CA362684629 | DSP | c.3685G>T (p.Glu1229Ter) c.3582+103G>T (n.3582+103G>T) | |
| 6 | g.7579877_7579879dup | CA565358125 | DSP | c.3687_3689dup (p.Glu1229_Asp1230insGlu) c.3582+105_3582+107dup (n.3582+105_3582+107dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579877_7579879del | CA2677226244 | DSP | c.3687_3689del (p.Glu1229del) c.3582+105_3582+107del (n.3582+105_3582+107del) | gnomAD v4 |
| 6 | g.7579876A>C | CA362684630 | DSP | c.3686A>C (p.Glu1229Ala) c.3582+104A>C (n.3582+104A>C) | |
| 6 | g.7579876A>G | CA362684631 | DSP | c.3686A>G (p.Glu1229Gly) c.3582+104A>G (n.3582+104A>G) | |
| 6 | g.7579876A>T | CA362684632 | DSP | c.3686A>T (p.Glu1229Val) c.3582+104A>T (n.3582+104A>T) | |
| 6 | g.7579877G>A | CA448714581 | DSP | c.3687G>A (p.Glu1229=) c.3582+105G>A (n.3582+105G>A) | |
| 6 | g.7579877G>C | CA362684633 | DSP | c.3687G>C (p.Glu1229Asp) c.3582+105G>C (n.3582+105G>C) | |
| 6 | g.7579877G>T | CA362684634 | DSP | c.3687G>T (p.Glu1229Asp) c.3582+105G>T (n.3582+105G>T) | |
| 6 | g.7579878G>A | CA362684637 | DSP | c.3688G>A (p.Asp1230Asn) c.3582+106G>A (n.3582+106G>A) | COSMIC |
| 6 | g.7579878G>C | CA362684635 | DSP | c.3688G>C (p.Asp1230His) c.3582+106G>C (n.3582+106G>C) | |
| 6 | g.7579878G>T | CA362684636 | DSP | c.3688G>T (p.Asp1230Tyr) c.3582+106G>T (n.3582+106G>T) | |
| 6 | g.7579879A>C | CA362684638 | DSP | c.3689A>C (p.Asp1230Ala) c.3582+107A>C (n.3582+107A>C) | |
| 6 | g.7579879A>G | CA362684639 | DSP | c.3689A>G (p.Asp1230Gly) c.3582+107A>G (n.3582+107A>G) | |
| 6 | g.7579879A>T | CA362684640 | DSP | c.3689A>T (p.Asp1230Val) c.3582+107A>T (n.3582+107A>T) | |
| 6 | g.7579880T>A | CA362684641 | DSP | c.3690T>A (p.Asp1230Glu) c.3582+108T>A (n.3582+108T>A) | |
| 6 | g.7579880T>C | CA448714583 | DSP | c.3690T>C (p.Asp1230=) c.3582+108T>C (n.3582+108T>C) | |
| 6 | g.7579880T>G | CA362684642 | DSP | c.3690T>G (p.Asp1230Glu) c.3582+108T>G (n.3582+108T>G) | |
| 6 | g.7579881G>A | CA362684643 | DSP | c.3691G>A (p.Asp1231Asn) c.3582+109G>A (n.3582+109G>A) | ClinVar COSMIC |
| 6 | g.7579881G>C | CA362684644 | DSP | c.3691G>C (p.Asp1231His) c.3582+109G>C (n.3582+109G>C) | |
| 6 | g.7579881G>T | CA362684645 | DSP | c.3691G>T (p.Asp1231Tyr) c.3582+109G>T (n.3582+109G>T) | |
| 6 | g.7579882A= | CA1608615085 | DSP | c.3692A= (p.Asp1231=) c.3582+110A= (n.3582+110A=) | |
| 6 | g.7579882A>C | CA362684646 | DSP | c.3692A>C (p.Asp1231Ala) c.3582+110A>C (n.3582+110A>C) | ClinVar dbSNP |
| 6 | g.7579882A>G | CA362684647 | DSP | c.3692A>G (p.Asp1231Gly) c.3582+110A>G (n.3582+110A>G) | gnomAD v4 |
| 6 | g.7579882A>T | CA362684648 | DSP | c.3692A>T (p.Asp1231Val) c.3582+110A>T (n.3582+110A>T) | |
| 6 | g.7579883T>A | CA362684649 | DSP | c.3693T>A (p.Asp1231Glu) c.3582+111T>A (n.3582+111T>A) | |
| 6 | g.7579883T>C | CA448714586 | DSP | c.3693T>C (p.Asp1231=) c.3582+111T>C (n.3582+111T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579883T>G | CA362684650 | DSP | c.3693T>G (p.Asp1231Glu) c.3582+111T>G (n.3582+111T>G) | |
| 6 | g.7579883T= | CA1608615089 | DSP | c.3693T= (p.Asp1231=) c.3582+111T= (n.3582+111T=) | |
| 6 | g.7579884T>A | CA362684652 | DSP | c.3694T>A (p.Ser1232Thr) c.3582+112T>A (n.3582+112T>A) | |
| 6 | g.7579884T>C | CA362684653 | DSP | c.3694T>C (p.Ser1232Pro) c.3582+112T>C (n.3582+112T>C) | ClinVar |
| 6 | g.7579884T>G | CA362684651 | DSP | c.3694T>G (p.Ser1232Ala) c.3582+112T>G (n.3582+112T>G) | |
| 6 | g.7579885C>A | CA362684654 | DSP | c.3695C>A (p.Ser1232Tyr) c.3582+113C>A (n.3582+113C>A) | |
| 6 | g.7579885C>G | CA362684656 | DSP | c.3695C>G (p.Ser1232Cys) c.3582+113C>G (n.3582+113C>G) | |
| 6 | g.7579885C>T | CA362684655 | DSP | c.3695C>T (p.Ser1232Phe) c.3582+113C>T (n.3582+113C>T) | |
| 6 | g.7579886C>A | CA004146 | DSP | c.3696C>A (p.Ser1232=) c.3582+114C>A (n.3582+114C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579886C= | CA1608615098 | DSP | c.3696C= (p.Ser1232=) c.3582+114C= (n.3582+114C=) | |
| 6 | g.7579886C>G | CA038761 | DSP | c.3696C>G (p.Ser1232=) c.3582+114C>G (n.3582+114C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579886C>T | CA448714590 | DSP | c.3696C>T (p.Ser1232=) c.3582+114C>T (n.3582+114C>T) | ClinVar |
| 6 | g.7579887A>C | CA362684657 | DSP | c.3697A>C (p.Lys1233Gln) c.3582+115A>C (n.3582+115A>C) | |
| 6 | g.7579887A>G | CA362684658 | DSP | c.3697A>G (p.Lys1233Glu) c.3582+115A>G (n.3582+115A>G) | gnomAD v4 |
| 6 | g.7579887A>T | CA362684659 | DSP | c.3697A>T (p.Lys1233Ter) c.3582+115A>T (n.3582+115A>T) | |
| 6 | g.7579891del | CA2677234272 | DSP | c.3701del (p.Asn1234IlefsTer16) c.3582+119del (n.3582+119del) | gnomAD v4 |
| 6 | g.7579888A>C | CA362684660 | DSP | c.3698A>C (p.Lys1233Thr) c.3582+116A>C (n.3582+116A>C) | |
| 6 | g.7579888A>G | CA362684661 | DSP | c.3698A>G (p.Lys1233Arg) c.3582+116A>G (n.3582+116A>G) | |
| 6 | g.7579888A>T | CA362684662 | DSP | c.3698A>T (p.Lys1233Ile) c.3582+116A>T (n.3582+116A>T) | |
| 6 | g.7579889A>C | CA362684663 | DSP | c.3699A>C (p.Lys1233Asn) c.3582+117A>C (n.3582+117A>C) | |
| 6 | g.7579889A>G | CA448714593 | DSP | c.3699A>G (p.Lys1233=) c.3582+117A>G (n.3582+117A>G) | |
| 6 | g.7579889A>T | CA362684664 | DSP | c.3699A>T (p.Lys1233Asn) c.3582+117A>T (n.3582+117A>T) | |
| 6 | g.7579890A>C | CA362684665 | DSP | c.3700A>C (p.Asn1234His) c.3582+118A>C (n.3582+118A>C) | |
| 6 | g.7579890A>G | CA362684666 | DSP | c.3700A>G (p.Asn1234Asp) c.3582+118A>G (n.3582+118A>G) | |
| 6 | g.7579890A>T | CA362684667 | DSP | c.3700A>T (p.Asn1234Tyr) c.3582+118A>T (n.3582+118A>T) | |
| 6 | g.7579891A= | CA1608615113 | DSP | c.3701A= (p.Asn1234=) c.3582+119A= (n.3582+119A=) | |
| 6 | g.7579891A>C | CA362684668 | DSP | c.3701A>C (p.Asn1234Thr) c.3582+119A>C (n.3582+119A>C) | |
| 6 | g.7579891A>G | CA004175 | DSP | c.3701A>G (p.Asn1234Ser) c.3582+119A>G (n.3582+119A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579891A>T | CA362684669 | DSP | c.3701A>T (p.Asn1234Ile) c.3582+119A>T (n.3582+119A>T) | |
| 6 | g.7579892T>A | CA362684670 | DSP | c.3702T>A (p.Asn1234Lys) c.3582+120T>A (n.3582+120T>A) | |
| 6 | g.7579892T>C | CA448714597 | DSP | c.3702T>C (p.Asn1234=) c.3582+120T>C (n.3582+120T>C) | |
| 6 | g.7579892T>G | CA362684671 | DSP | c.3702T>G (p.Asn1234Lys) c.3582+120T>G (n.3582+120T>G) | |
| 6 | g.7579893C>A | CA362684672 | DSP | c.3703C>A (p.Leu1235Ile) c.3582+121C>A (n.3582+121C>A) | |
| 6 | g.7579893C>G | CA362684673 | DSP | c.3703C>G (p.Leu1235Val) c.3582+121C>G (n.3582+121C>G) | gnomAD v4 COSMIC |
| 6 | g.7579893C>T | CA362684674 | DSP | c.3703C>T (p.Leu1235Phe) c.3582+121C>T (n.3582+121C>T) | |
| 6 | g.7579894T>A | CA362684675 | DSP | c.3704T>A (p.Leu1235His) c.3582+122T>A (n.3582+122T>A) | |
| 6 | g.7579894T>C | CA362684676 | DSP | c.3704T>C (p.Leu1235Pro) c.3582+122T>C (n.3582+122T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579894T>G | CA362684677 | DSP | c.3704T>G (p.Leu1235Arg) c.3582+122T>G (n.3582+122T>G) | |
| 6 | g.7579894T= | CA1608615120 | DSP | c.3704T= (p.Leu1235=) c.3582+122T= (n.3582+122T=) | |
| 6 | g.7579895T>A | CA448714606 | DSP | c.3705T>A (p.Leu1235=) c.3582+123T>A (n.3582+123T>A) | |
| 6 | g.7579895T>C | CA448714608 | DSP | c.3705T>C (p.Leu1235=) c.3582+123T>C (n.3582+123T>C) | |
| 6 | g.7579895T>G | CA448714609 | DSP | c.3705T>G (p.Leu1235=) c.3582+123T>G (n.3582+123T>G) | |
| 6 | g.7579896A= | CA1608615126 | DSP | c.3706A= (p.Arg1236=) c.3582+124A= (n.3582+124A=) | |
| 6 | g.7579896A>C | CA448714611 | DSP | c.3706A>C (p.Arg1236=) c.3582+124A>C (n.3582+124A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7579896A>G | CA038794 | DSP | c.3706A>G (p.Arg1236Gly) c.3582+124A>G (n.3582+124A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579896A>T | CA362684678 | DSP | c.3706A>T (p.Arg1236Ter) c.3582+124A>T (n.3582+124A>T) | |
| 6 | g.7579897G>A | CA362684681 | DSP | c.3707G>A (p.Arg1236Lys) c.3582+125G>A (n.3582+125G>A) | |
| 6 | g.7579897G>C | CA362684680 | DSP | c.3707G>C (p.Arg1236Thr) c.3582+125G>C (n.3582+125G>C) | |
| 6 | g.7579897G>T | CA362684679 | DSP | c.3707G>T (p.Arg1236Ile) c.3582+125G>T (n.3582+125G>T) | |
| 6 | g.7579898A>C | CA362684682 | DSP | c.3708A>C (p.Arg1236Ser) c.3582+126A>C (n.3582+126A>C) | |
| 6 | g.7579898A>G | CA448714615 | DSP | c.3708A>G (p.Arg1236=) c.3582+126A>G (n.3582+126A>G) | |
| 6 | g.7579898A>T | CA362684683 | DSP | c.3708A>T (p.Arg1236Ser) c.3582+126A>T (n.3582+126A>T) | |
| 6 | g.7579899A>C | CA362684684 | DSP | c.3709A>C (p.Asn1237His) c.3582+127A>C (n.3582+127A>C) | |
| 6 | g.7579899A>G | CA362684685 | DSP | c.3709A>G (p.Asn1237Asp) c.3582+127A>G (n.3582+127A>G) | |
| 6 | g.7579899A>T | CA362684686 | DSP | c.3709A>T (p.Asn1237Tyr) c.3582+127A>T (n.3582+127A>T) | |
| 6 | g.7579900A>C | CA362684687 | DSP | c.3710A>C (p.Asn1237Thr) c.3582+128A>C (n.3582+128A>C) | |
| 6 | g.7579900A>G | CA362684688 | DSP | c.3710A>G (p.Asn1237Ser) c.3582+128A>G (n.3582+128A>G) | |
| 6 | g.7579900A>T | CA362684689 | DSP | c.3710A>T (p.Asn1237Ile) c.3582+128A>T (n.3582+128A>T) | |
| 6 | g.7579901C>A | CA362684690 | DSP | c.3711C>A (p.Asn1237Lys) c.3582+129C>A (n.3582+129C>A) | |
| 6 | g.7579901C>G | CA362684691 | DSP | c.3711C>G (p.Asn1237Lys) c.3582+129C>G (n.3582+129C>G) | |
| 6 | g.7579901C>T | CA448714626 | DSP | c.3711C>T (p.Asn1237=) c.3582+129C>T (n.3582+129C>T) | |
| 6 | g.7579902C>A | CA038805 | DSP | c.3712C>A (p.Gln1238Lys) c.3582+130C>A (n.3582+130C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579902C= | CA1608615133 | DSP | c.3712C= (p.Gln1238=) c.3582+130C= (n.3582+130C=) | |
| 6 | g.7579902C>G | CA16622018 | DSP | c.3712C>G (p.Gln1238Glu) c.3582+130C>G (n.3582+130C>G) | ClinVar dbSNP |
| 6 | g.7579902C>T | CA362684692 | DSP | c.3712C>T (p.Gln1238Ter) c.3582+130C>T (n.3582+130C>T) | |
| 6 | g.7579903A>C | CA362684695 | DSP | c.3713A>C (p.Gln1238Pro) c.3582+131A>C (n.3582+131A>C) | |
| 6 | g.7579903A>G | CA362684693 | DSP | c.3713A>G (p.Gln1238Arg) c.3582+131A>G (n.3582+131A>G) | |
| 6 | g.7579903A>T | CA362684694 | DSP | c.3713A>T (p.Gln1238Leu) c.3582+131A>T (n.3582+131A>T) | |
| 6 | g.7579904G>A | CA448714636 | DSP | c.3714G>A (p.Gln1238=) c.3582+132G>A (n.3582+132G>A) | ClinVar dbSNP |
| 6 | g.7579904G>C | CA362684696 | DSP | c.3714G>C (p.Gln1238His) c.3582+132G>C (n.3582+132G>C) | |
| 6 | g.7579904G>T | CA362684697 | DSP | c.3714G>T (p.Gln1238His) c.3582+132G>T (n.3582+132G>T) | |
| 6 | g.7579905C>A | CA362684698 | DSP | c.3715C>A (p.Leu1239Ile) c.3582+133C>A (n.3582+133C>A) | |
| 6 | g.7579905C= | CA1608615139 | DSP | c.3715C= (p.Leu1239=) c.3582+133C= (n.3582+133C=) | |
| 6 | g.7579905C>G | CA362684699 | DSP | c.3715C>G (p.Leu1239Val) c.3582+133C>G (n.3582+133C>G) | |
| 6 | g.7579905C>T | CA004206 | DSP | c.3715C>T (p.Leu1239Phe) c.3582+133C>T (n.3582+133C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579906T>A | CA362684700 | DSP | c.3716T>A (p.Leu1239His) c.3582+134T>A (n.3582+134T>A) | gnomAD v4 |
| 6 | g.7579906T>C | CA362684701 | DSP | c.3716T>C (p.Leu1239Pro) c.3582+134T>C (n.3582+134T>C) | ClinVar |
| 6 | g.7579906T>G | CA362684702 | DSP | c.3716T>G (p.Leu1239Arg) c.3582+134T>G (n.3582+134T>G) | |
| 6 | g.7579907T>A | CA448714642 | DSP | c.3717T>A (p.Leu1239=) c.3582+135T>A (n.3582+135T>A) | |
| 6 | g.7579907T>C | CA448714648 | DSP | c.3717T>C (p.Leu1239=) c.3582+135T>C (n.3582+135T>C) | |
| 6 | g.7579907T>G | CA448714645 | DSP | c.3717T>G (p.Leu1239=) c.3582+135T>G (n.3582+135T>G) | |
| 6 | g.7579908G>A | CA362684703 | DSP | c.3718G>A (p.Asp1240Asn) c.3582+136G>A (n.3582+136G>A) | COSMIC |
| 6 | g.7579908G>C | CA362684704 | DSP | c.3718G>C (p.Asp1240His) c.3582+136G>C (n.3582+136G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579908G= | CA1608615147 | DSP | c.3718G= (p.Asp1240=) c.3582+136G= (n.3582+136G=) | |
| 6 | g.7579908G>T | CA362684705 | DSP | c.3718G>T (p.Asp1240Tyr) c.3582+136G>T (n.3582+136G>T) | gnomAD v4 |
| 6 | g.7579909A>C | CA362684708 | DSP | c.3719A>C (p.Asp1240Ala) c.3582+137A>C (n.3582+137A>C) | |
| 6 | g.7579909A>G | CA362684706 | DSP | c.3719A>G (p.Asp1240Gly) c.3582+137A>G (n.3582+137A>G) | |
| 6 | g.7579909A>T | CA362684707 | DSP | c.3719A>T (p.Asp1240Val) c.3582+137A>T (n.3582+137A>T) | |
| 6 | g.7579910T>A | CA362684709 | DSP | c.3720T>A (p.Asp1240Glu) c.3582+138T>A (n.3582+138T>A) | ClinVar dbSNP |
| 6 | g.7579910T>C | CA448714651 | DSP | c.3720T>C (p.Asp1240=) c.3582+138T>C (n.3582+138T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579910T>G | CA362684710 | DSP | c.3720T>G (p.Asp1240Glu) c.3582+138T>G (n.3582+138T>G) | |
| 6 | g.7579910T= | CA1608615154 | DSP | c.3720T= (p.Asp1240=) c.3582+138T= (n.3582+138T=) | |
| 6 | g.7579911A>C | CA448714653 | DSP | c.3721A>C (p.Arg1241=) c.3582+139A>C (n.3582+139A>C) | |
| 6 | g.7579911A>G | CA362684711 | DSP | c.3721A>G (p.Arg1241Gly) c.3582+139A>G (n.3582+139A>G) | |
| 6 | g.7579911A>T | CA362684712 | DSP | c.3721A>T (p.Arg1241Ter) c.3582+139A>T (n.3582+139A>T) | |
| 6 | g.7579912G>A | CA362684713 | DSP | c.3722G>A (p.Arg1241Lys) c.3582+140G>A (n.3582+140G>A) | |
| 6 | g.7579912G>C | CA362684714 | DSP | c.3722G>C (p.Arg1241Thr) c.3582+140G>C (n.3582+140G>C) | |
| 6 | g.7579912G>T | CA362684715 | DSP | c.3722G>T (p.Arg1241Ile) c.3582+140G>T (n.3582+140G>T) | |
| 6 | g.7579913A= | CA1608615160 | DSP | c.3723A= (p.Arg1241=) c.3582+141A= (n.3582+141A=) | |
| 6 | g.7579913A>C | CA362684717 | DSP | c.3723A>C (p.Arg1241Ser) c.3582+141A>C (n.3582+141A>C) | |
| 6 | g.7579913A>G | CA448714659 | DSP | c.3723A>G (p.Arg1241=) c.3582+141A>G (n.3582+141A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7579913A>T | CA362684716 | DSP | c.3723A>T (p.Arg1241Ser) c.3582+141A>T (n.3582+141A>T) | |
| 6 | g.7579914C>A | CA362684718 | DSP | c.3724C>A (p.Leu1242Ile) c.3582+142C>A (n.3582+142C>A) | |
| 6 | g.7579914C>G | CA362684719 | DSP | c.3724C>G (p.Leu1242Val) c.3582+142C>G (n.3582+142C>G) | |
| 6 | g.7579914C>T | CA362684720 | DSP | c.3724C>T (p.Leu1242Phe) c.3582+142C>T (n.3582+142C>T) | |
| 6 | g.7579915T>A | CA362684721 | DSP | c.3725T>A (p.Leu1242His) c.3582+143T>A (n.3582+143T>A) | |
| 6 | g.7579915T>C | CA362684722 | DSP | c.3725T>C (p.Leu1242Pro) c.3582+143T>C (n.3582+143T>C) | ClinVar dbSNP |
| 6 | g.7579915T>G | CA362684723 | DSP | c.3725T>G (p.Leu1242Arg) c.3582+143T>G (n.3582+143T>G) | |
| 6 | g.7579915T= | CA1608615164 | DSP | c.3725T= (p.Leu1242=) c.3582+143T= (n.3582+143T=) | |
| 6 | g.7579917del | CA2578524501 | DSP | c.3727del (p.Ser1243GlnfsTer7) c.3582+145del (n.3582+145del) | |
| 6 | g.7579916T>A | CA448714664 | DSP | c.3726T>A (p.Leu1242=) c.3582+144T>A (n.3582+144T>A) | |
| 6 | g.7579916T>C | CA448714665 | DSP | c.3726T>C (p.Leu1242=) c.3582+144T>C (n.3582+144T>C) | dbSNP |
| 6 | g.7579916T>G | CA448714667 | DSP | c.3726T>G (p.Leu1242=) c.3582+144T>G (n.3582+144T>G) | |
| 6 | g.7579917T>A | CA362684724 | DSP | c.3727T>A (p.Ser1243Thr) c.3582+145T>A (n.3582+145T>A) | |
| 6 | g.7579917T>C | CA362684726 | DSP | c.3727T>C (p.Ser1243Pro) c.3582+145T>C (n.3582+145T>C) | |
| 6 | g.7579917T>G | CA362684725 | DSP | c.3727T>G (p.Ser1243Ala) c.3582+145T>G (n.3582+145T>G) | |
| 6 | g.7579918C>A | CA362684727 | DSP | c.3728C>A (p.Ser1243Ter) c.3582+146C>A (n.3582+146C>A) | gnomAD v4 |
| 6 | g.7579918C>G | CA362684728 | DSP | c.3728C>G (p.Ser1243Ter) c.3582+146C>G (n.3582+146C>G) | gnomAD v4 |
| 6 | g.7579918C>T | CA362684729 | DSP | c.3728C>T (p.Ser1243Leu) c.3582+146C>T (n.3582+146C>T) | |
| 6 | g.7579919A= | CA1608615170 | DSP | c.3729A= (p.Ser1243=) c.3582+147A= (n.3582+147A=) | |
| 6 | g.7579919A>C | CA448714681 | DSP | c.3729A>C (p.Ser1243=) c.3582+147A>C (n.3582+147A>C) | |
| 6 | g.7579919A>G | CA038842 | DSP | c.3729A>G (p.Ser1243=) c.3582+147A>G (n.3582+147A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579919A>T | CA448714686 | DSP | c.3729A>T (p.Ser1243=) c.3582+147A>T (n.3582+147A>T) | |
| 6 | g.7579920A>C | CA448714688 | DSP | c.3730A>C (p.Arg1244=) c.3582+148A>C (n.3582+148A>C) | |
| 6 | g.7579920A>G | CA362684730 | DSP | c.3730A>G (p.Arg1244Gly) c.3582+148A>G (n.3582+148A>G) | ClinVar dbSNP |
| 6 | g.7579920A>T | CA362684731 | DSP | c.3730A>T (p.Arg1244Trp) c.3582+148A>T (n.3582+148A>T) | |
| 6 | g.7579920_7579921delinsAG | CA1608615179 | DSP | c.3730_3731delinsAG (p.Arg1244=) c.3582+148_3582+149delinsAG (n.3582+148_3582+149delinsAG) | |
| 6 | g.7579921G>A | CA362684732 | DSP | c.3731G>A (p.Arg1244Lys) c.3582+149G>A (n.3582+149G>A) | dbSNP |
| 6 | g.7579921G>C | CA362684733 | DSP | c.3731G>C (p.Arg1244Thr) c.3582+149G>C (n.3582+149G>C) | COSMIC |
| 6 | g.7579921G= | CA1608615191 | DSP | c.3731G= (p.Arg1244=) c.3582+149G= (n.3582+149G=) | |
| 6 | g.7579921G>T | CA362684734 | DSP | c.3731G>T (p.Arg1244Met) c.3582+149G>T (n.3582+149G>T) | |
| 6 | g.7579923del | CA005899 | DSP | c.3733del (p.Glu1245LysfsTer5) c.3582+151del (n.3582+151del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579922G>A | CA448714695 | DSP | c.3732G>A (p.Arg1244=) c.3582+150G>A (n.3582+150G>A) | |
| 6 | g.7579922G>C | CA362684735 | DSP | c.3732G>C (p.Arg1244Ser) c.3582+150G>C (n.3582+150G>C) | |
| 6 | g.7579922G= | CA1608615196 | DSP | c.3732G= (p.Arg1244=) c.3582+150G= (n.3582+150G=) | |
| 6 | g.7579922G>T | CA362684736 | DSP | c.3732G>T (p.Arg1244Ser) c.3582+150G>T (n.3582+150G>T) | |
| 6 | g.7579923G>A | CA362684739 | DSP | c.3733G>A (p.Glu1245Lys) c.3582+151G>A (n.3582+151G>A) | gnomAD v4 |
| 6 | g.7579923G>C | CA362684738 | DSP | c.3733G>C (p.Glu1245Gln) c.3582+151G>C (n.3582+151G>C) | |
| 6 | g.7579923G>T | CA362684737 | DSP | c.3733G>T (p.Glu1245Ter) c.3582+151G>T (n.3582+151G>T) | |
| 6 | g.7579925_7579931dup | CA303944 | DSP | c.3735_3741dup (p.Asp1248LysfsTer7) c.3582+153_3582+159dup (n.3582+153_3582+159dup) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.7579924A>C | CA362684742 | DSP | c.3734A>C (p.Glu1245Ala) c.3582+152A>C (n.3582+152A>C) | |
| 6 | g.7579924A>G | CA362684740 | DSP | c.3734A>G (p.Glu1245Gly) c.3582+152A>G (n.3582+152A>G) | |
| 6 | g.7579924A>T | CA362684741 | DSP | c.3734A>T (p.Glu1245Val) c.3582+152A>T (n.3582+152A>T) | |
| 6 | g.7579927dup | CA2695206009 | DSP | c.3737dup (p.Asn1246LysfsTer7) c.3582+155dup (n.3582+155dup) | |
| 6 | g.7579925A= | CA1608615203 | DSP | c.3735A= (p.Glu1245=) c.3582+153A= (n.3582+153A=) | |
| 6 | g.7579925A>C | CA362684743 | DSP | c.3735A>C (p.Glu1245Asp) c.3582+153A>C (n.3582+153A>C) | |
| 6 | g.7579925A>G | CA448714704 | DSP | c.3735A>G (p.Glu1245=) c.3582+153A>G (n.3582+153A>G) | dbSNP gnomAD v4 |
| 6 | g.7579925A>T | CA362684744 | DSP | c.3735A>T (p.Glu1245Asp) c.3582+153A>T (n.3582+153A>T) | |
| 6 | g.7579926A>C | CA362684745 | DSP | c.3736A>C (p.Asn1246His) c.3582+154A>C (n.3582+154A>C) | |
| 6 | g.7579926A>G | CA362684746 | DSP | c.3736A>G (p.Asn1246Asp) c.3582+154A>G (n.3582+154A>G) | |
| 6 | g.7579926A>T | CA362684747 | DSP | c.3736A>T (p.Asn1246Tyr) c.3582+154A>T (n.3582+154A>T) | |
| 6 | g.7579927A>C | CA362684748 | DSP | c.3737A>C (p.Asn1246Thr) c.3582+155A>C (n.3582+155A>C) | |
| 6 | g.7579927A>G | CA362684749 | DSP | c.3737A>G (p.Asn1246Ser) c.3582+155A>G (n.3582+155A>G) | |
| 6 | g.7579927A>T | CA362684750 | DSP | c.3737A>T (p.Asn1246Ile) c.3582+155A>T (n.3582+155A>T) | |
| 6 | g.7579928T>A | CA362684751 | DSP | c.3738T>A (p.Asn1246Lys) c.3582+156T>A (n.3582+156T>A) | |
| 6 | g.7579928T>C | CA448714711 | DSP | c.3738T>C (p.Asn1246=) c.3582+156T>C (n.3582+156T>C) | ClinVar gnomAD v4 |
| 6 | g.7579928T>G | CA362684752 | DSP | c.3738T>G (p.Asn1246Lys) c.3582+156T>G (n.3582+156T>G) | |
| 6 | g.7579929C>A | CA448714712 | DSP | c.3739C>A (p.Arg1247=) c.3582+157C>A (n.3582+157C>A) | |
| 6 | g.7579929C= | CA1608615207 | DSP | c.3739C= (p.Arg1247=) c.3582+157C= (n.3582+157C=) | |
| 6 | g.7579929C>G | CA362684753 | DSP | c.3739C>G (p.Arg1247Gly) c.3582+157C>G (n.3582+157C>G) | |
| 6 | g.7579929C>T | CA362684754 | DSP | c.3739C>T (p.Arg1247Ter) c.3582+157C>T (n.3582+157C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7579930G>A | CA10584679 | DSP | c.3740G>A (p.Arg1247Gln) c.3582+158G>A (n.3582+158G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579930G>C | CA362684755 | DSP | c.3740G>C (p.Arg1247Pro) c.3582+158G>C (n.3582+158G>C) | dbSNP |
| 6 | g.7579930G= | CA1608615215 | DSP | c.3740G= (p.Arg1247=) c.3582+158G= (n.3582+158G=) | |
| 6 | g.7579930G>T | CA362684756 | DSP | c.3740G>T (p.Arg1247Leu) c.3582+158G>T (n.3582+158G>T) | |
| 6 | g.7579931A= | CA1608615220 | DSP | c.3741A= (p.Arg1247=) c.3582+159A= (n.3582+159A=) | |
| 6 | g.7579931A>C | CA448714720 | DSP | c.3741A>C (p.Arg1247=) c.3582+159A>C (n.3582+159A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579931A>G | CA448714721 | DSP | c.3741A>G (p.Arg1247=) c.3582+159A>G (n.3582+159A>G) | |
| 6 | g.7579931A>T | CA448714722 | DSP | c.3741A>T (p.Arg1247=) c.3582+159A>T (n.3582+159A>T) |