12 | g.5045127_5045129del | CA2617209911 | KCNA5 | c.980_982del (p.Val327del)
| gnomAD v4 |
12 | g.5045127T>A | CA383465523 | KCNA5 | c.980T>A (p.Val327Glu)
| |
12 | g.5045127T>C | CA383465524 | KCNA5 | c.980T>C (p.Val327Ala)
| |
12 | g.5045127T>G | CA383465525 | KCNA5 | c.980T>G (p.Val327Gly)
| |
12 | g.5045128G>A | CA478095512 | KCNA5 | c.981G>A (p.Val327=)
| |
12 | g.5045128G>C | CA478095513 | KCNA5 | c.981G>C (p.Val327=)
| |
12 | g.5045128G>T | CA478095511 | KCNA5 | c.981G>T (p.Val327=)
| |
12 | g.5045129G>A | CA383465526 | KCNA5 | c.982G>A (p.Glu328Lys)
| |
12 | g.5045129G>C | CA383465527 | KCNA5 | c.982G>C (p.Glu328Gln)
| |
12 | g.5045129G>T | CA383465528 | KCNA5 | c.982G>T (p.Glu328Ter)
| |
12 | g.5045130A= | CA2013431085 | KCNA5 | c.983A= (p.Glu328=)
| |
12 | g.5045130A>C | CA383465529 | KCNA5 | c.983A>C (p.Glu328Ala)
| |
12 | g.5045130A>G | CA383465530 | KCNA5 | c.983A>G (p.Glu328Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045130A>T | CA383465531 | KCNA5 | c.983A>T (p.Glu328Val)
| |
12 | g.5045131G>A | CA478095515 | KCNA5 | c.984G>A (p.Glu328=)
| |
12 | g.5045131G>C | CA383465532 | KCNA5 | c.984G>C (p.Glu328Asp)
| |
12 | g.5045131G>T | CA383465533 | KCNA5 | c.984G>T (p.Glu328Asp)
| |
12 | g.5045132A= | CA2013431086 | KCNA5 | c.985A= (p.Thr329=)
| |
12 | g.5045132A>C | CA383465534 | KCNA5 | c.985A>C (p.Thr329Pro)
| |
12 | g.5045132A>G | CA383465536 | KCNA5 | c.985A>G (p.Thr329Ala)
| ClinVar dbSNP |
12 | g.5045132A>T | CA383465535 | KCNA5 | c.985A>T (p.Thr329Ser)
| dbSNP |
12 | g.5045133C>A | CA383465537 | KCNA5 | c.986C>A (p.Thr329Asn)
| |
12 | g.5045133C>G | CA383465539 | KCNA5 | c.986C>G (p.Thr329Ser)
| |
12 | g.5045133C>T | CA383465538 | KCNA5 | c.986C>T (p.Thr329Ile)
| |
12 | g.5045134C>A | CA478095518 | KCNA5 | c.987C>A (p.Thr329=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045134C= | CA2013431087 | KCNA5 | c.987C= (p.Thr329=)
| |
12 | g.5045134C>G | CA478095520 | KCNA5 | c.987C>G (p.Thr329=)
| |
12 | g.5045134C>T | CA478095519 | KCNA5 | c.987C>T (p.Thr329=)
| dbSNP gnomAD v4 |
12 | g.5045135A>C | CA383465540 | KCNA5 | c.988A>C (p.Thr330Pro)
| |
12 | g.5045135A>G | CA383465541 | KCNA5 | c.988A>G (p.Thr330Ala)
| |
12 | g.5045135A>T | CA383465542 | KCNA5 | c.988A>T (p.Thr330Ser)
| |
12 | g.5045136C>A | CA6399779 | KCNA5 | c.989C>A (p.Thr330Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045136C= | CA2013431088 | KCNA5 | c.989C= (p.Thr330=)
| |
12 | g.5045136C>G | CA383465543 | KCNA5 | c.989C>G (p.Thr330Arg)
| |
12 | g.5045136C>T | CA6399778 | KCNA5 | c.989C>T (p.Thr330Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045137del | CA2617209912 | KCNA5 | c.990del (p.Cys331AlafsTer27)
| gnomAD v4 |
12 | g.5045137G>A | CA478095524 | KCNA5 | c.990G>A (p.Thr330=)
| dbSNP gnomAD v2 |
12 | g.5045137G>C | CA478095526 | KCNA5 | c.990G>C (p.Thr330=)
| |
12 | g.5045137G= | CA2013431089 | KCNA5 | c.990G= (p.Thr330=)
| |
12 | g.5045137G>T | CA478095525 | KCNA5 | c.990G>T (p.Thr330=)
| gnomAD v4 |
12 | g.5045138T>A | CA383465544 | KCNA5 | c.991T>A (p.Cys331Ser)
| |
12 | g.5045138T>C | CA383465545 | KCNA5 | c.991T>C (p.Cys331Arg)
| |
12 | g.5045138T>G | CA383465546 | KCNA5 | c.991T>G (p.Cys331Gly)
| |
12 | g.5045139G>A | CA383465547 | KCNA5 | c.992G>A (p.Cys331Tyr)
| |
12 | g.5045139G>C | CA383465548 | KCNA5 | c.992G>C (p.Cys331Ser)
| |
12 | g.5045139G>T | CA383465549 | KCNA5 | c.992G>T (p.Cys331Phe)
| gnomAD v4 |
12 | g.5045140C>A | CA383465551 | KCNA5 | c.993C>A (p.Cys331Ter)
| |
12 | g.5045140C>G | CA383465550 | KCNA5 | c.993C>G (p.Cys331Trp)
| dbSNP |
12 | g.5045140C>T | CA478095528 | KCNA5 | c.993C>T (p.Cys331=)
| |
12 | g.5045141G>A | CA383465552 | KCNA5 | c.994G>A (p.Val332Ile)
| gnomAD v4 COSMIC |
12 | g.5045141G>C | CA383465553 | KCNA5 | c.994G>C (p.Val332Leu)
| |
12 | g.5045141G= | CA2013431090 | KCNA5 | c.994G= (p.Val332=)
| |
12 | g.5045141G>T | CA383465554 | KCNA5 | c.994G>T (p.Val332Phe)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045142T>A | CA383465555 | KCNA5 | c.995T>A (p.Val332Asp)
| |
12 | g.5045142T>C | CA383465556 | KCNA5 | c.995T>C (p.Val332Ala)
| |
12 | g.5045142T>G | CA383465557 | KCNA5 | c.995T>G (p.Val332Gly)
| |
12 | g.5045143C>A | CA478095534 | KCNA5 | c.996C>A (p.Val332=)
| |
12 | g.5045143C>G | CA478095535 | KCNA5 | c.996C>G (p.Val332=)
| |
12 | g.5045143C>T | CA478095533 | KCNA5 | c.996C>T (p.Val332=)
| gnomAD v4 |
12 | g.5045144A= | CA2013431091 | KCNA5 | c.997A= (p.Ile333=)
| |
12 | g.5045144A>C | CA383465558 | KCNA5 | c.997A>C (p.Ile333Leu)
| |
12 | g.5045144A>G | CA383465559 | KCNA5 | c.997A>G (p.Ile333Val)
| |
12 | g.5045144A>T | CA6399780 | KCNA5 | c.997A>T (p.Ile333Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045145T>A | CA383465560 | KCNA5 | c.998T>A (p.Ile333Asn)
| |
12 | g.5045145T>C | CA6399781 | KCNA5 | c.998T>C (p.Ile333Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045145T>G | CA383465561 | KCNA5 | c.998T>G (p.Ile333Ser)
| |
12 | g.5045145T= | CA2013431092 | KCNA5 | c.998T= (p.Ile333=)
| |
12 | g.5045146C>A | CA478095537 | KCNA5 | c.999C>A (p.Ile333=)
| |
12 | g.5045146C>G | CA383465562 | KCNA5 | c.999C>G (p.Ile333Met)
| |
12 | g.5045146C>T | CA478095539 | KCNA5 | c.999C>T (p.Ile333=)
| |
12 | g.5045147T>A | CA383465565 | KCNA5 | c.1000T>A (p.Trp334Arg)
| |
12 | g.5045147T>C | CA383465563 | KCNA5 | c.1000T>C (p.Trp334Arg)
| gnomAD v4 |
12 | g.5045147T>G | CA383465564 | KCNA5 | c.1000T>G (p.Trp334Gly)
| dbSNP |
12 | g.5045147T= | CA2013431093 | KCNA5 | c.1000T= (p.Trp334=)
| |
12 | g.5045148G>A | CA383465566 | KCNA5 | c.1001G>A (p.Trp334Ter)
| gnomAD v4 |
12 | g.5045148G>C | CA383465567 | KCNA5 | c.1001G>C (p.Trp334Ser)
| gnomAD v4 |
12 | g.5045148G>T | CA383465568 | KCNA5 | c.1001G>T (p.Trp334Leu)
| gnomAD v4 |
12 | g.5045149G>A | CA383465569 | KCNA5 | c.1002G>A (p.Trp334Ter)
| |
12 | g.5045149G>C | CA383465570 | KCNA5 | c.1002G>C (p.Trp334Cys)
| gnomAD v4 |
12 | g.5045149G>T | CA383465571 | KCNA5 | c.1002G>T (p.Trp334Cys)
| |
12 | g.5045150T>A | CA383465572 | KCNA5 | c.1003T>A (p.Phe335Ile)
| |
12 | g.5045150T>C | CA383465573 | KCNA5 | c.1003T>C (p.Phe335Leu)
| |
12 | g.5045150T>G | CA383465574 | KCNA5 | c.1003T>G (p.Phe335Val)
| |
12 | g.5045151T>A | CA383465575 | KCNA5 | c.1004T>A (p.Phe335Tyr)
| |
12 | g.5045151T>C | CA6399782 | KCNA5 | c.1004T>C (p.Phe335Ser)
| dbSNP ExAC gnomAD v2 |
12 | g.5045151T>G | CA383465576 | KCNA5 | c.1004T>G (p.Phe335Cys)
| |
12 | g.5045151T= | CA2013431094 | KCNA5 | c.1004T= (p.Phe335=)
| |
12 | g.5045152C>A | CA383465577 | KCNA5 | c.1005C>A (p.Phe335Leu)
| |
12 | g.5045152C= | CA2013431095 | KCNA5 | c.1005C= (p.Phe335=)
| |
12 | g.5045152C>G | CA231868313 | KCNA5 | c.1005C>G (p.Phe335Leu)
| dbSNP |
12 | g.5045152C>T | CA478095542 | KCNA5 | c.1005C>T (p.Phe335=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045153A= | CA2013431096 | KCNA5 | c.1006A= (p.Thr336=)
| |
12 | g.5045153A>C | CA383465578 | KCNA5 | c.1006A>C (p.Thr336Pro)
| dbSNP |
12 | g.5045153A>G | CA383465579 | KCNA5 | c.1006A>G (p.Thr336Ala)
| |
12 | g.5045153A>T | CA383465580 | KCNA5 | c.1006A>T (p.Thr336Ser)
| ClinVar |
12 | g.5045154C>A | CA383465581 | KCNA5 | c.1007C>A (p.Thr336Asn)
| |
12 | g.5045154C= | CA2013431097 | KCNA5 | c.1007C= (p.Thr336=)
| |
12 | g.5045154C>G | CA383465582 | KCNA5 | c.1007C>G (p.Thr336Ser)
| |
12 | g.5045154C>T | CA383465583 | KCNA5 | c.1007C>T (p.Thr336Ile)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045155C>A | CA478095543 | KCNA5 | c.1008C>A (p.Thr336=)
| |
12 | g.5045155C= | CA2013431098 | KCNA5 | c.1008C= (p.Thr336=)
| |
12 | g.5045155C>G | CA478095544 | KCNA5 | c.1008C>G (p.Thr336=)
| |
12 | g.5045155C>T | CA478095547 | KCNA5 | c.1008C>T (p.Thr336=)
| dbSNP gnomAD v4 |
12 | g.5045156T>A | CA383465584 | KCNA5 | c.1009T>A (p.Phe337Ile)
| |
12 | g.5045156T>C | CA6399783 | KCNA5 | c.1009T>C (p.Phe337Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045156T>G | CA383465585 | KCNA5 | c.1009T>G (p.Phe337Val)
| |
12 | g.5045156T= | CA2013431099 | KCNA5 | c.1009T= (p.Phe337=)
| |
12 | g.5045157T>A | CA383465586 | KCNA5 | c.1010T>A (p.Phe337Tyr)
| |
12 | g.5045157T>C | CA383465587 | KCNA5 | c.1010T>C (p.Phe337Ser)
| |
12 | g.5045157T>G | CA383465588 | KCNA5 | c.1010T>G (p.Phe337Cys)
| |
12 | g.5045158C>A | CA383465590 | KCNA5 | c.1011C>A (p.Phe337Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045158C= | CA2013431100 | KCNA5 | c.1011C= (p.Phe337=)
| |
12 | g.5045158C>G | CA383465589 | KCNA5 | c.1011C>G (p.Phe337Leu)
| |
12 | g.5045158C>T | CA231868316 | KCNA5 | c.1011C>T (p.Phe337=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045159G>A | CA383465591 | KCNA5 | c.1012G>A (p.Glu338Lys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045159G>C | CA383465593 | KCNA5 | c.1012G>C (p.Glu338Gln)
| gnomAD v4 |
12 | g.5045159G= | CA2013431101 | KCNA5 | c.1012G= (p.Glu338=)
| |
12 | g.5045159G>T | CA383465592 | KCNA5 | c.1012G>T (p.Glu338Ter)
| |
12 | g.5045160A>C | CA383465594 | KCNA5 | c.1013A>C (p.Glu338Ala)
| |
12 | g.5045160A>G | CA383465596 | KCNA5 | c.1013A>G (p.Glu338Gly)
| |
12 | g.5045160A>T | CA383465595 | KCNA5 | c.1013A>T (p.Glu338Val)
| |
12 | g.5045161G>A | CA478095552 | KCNA5 | c.1014G>A (p.Glu338=)
| |
12 | g.5045161G>C | CA383465597 | KCNA5 | c.1014G>C (p.Glu338Asp)
| |
12 | g.5045161G>T | CA383465598 | KCNA5 | c.1014G>T (p.Glu338Asp)
| |
12 | g.5045161_5045181delinsGCTGCTCGTGCGCTTCTTCGC | CA2013431102 | KCNA5 | c.1014_1034delinsGCTGCTCGTGCGCTTCTTCGC (p.Glu338=)
| |
12 | g.5045162C>A | CA383465599 | KCNA5 | c.1015C>A (p.Leu339Met)
| gnomAD v4 |
12 | g.5045162C>G | CA383465600 | KCNA5 | c.1015C>G (p.Leu339Val)
| |
12 | g.5045162C>T | CA478095555 | KCNA5 | c.1015C>T (p.Leu339=)
| |
12 | g.5045166_5045185del | CA2013431103 | KCNA5 | c.1019_1038del (p.Leu340ProfsTer?)
| dbSNP gnomAD v4 |
12 | g.5045163T>A | CA383465601 | KCNA5 | c.1016T>A (p.Leu339Gln)
| |
12 | g.5045163T>C | CA383465602 | KCNA5 | c.1016T>C (p.Leu339Pro)
| |
12 | g.5045163T>G | CA383465603 | KCNA5 | c.1016T>G (p.Leu339Arg)
| |
12 | g.5045164G>A | CA478095557 | KCNA5 | c.1017G>A (p.Leu339=)
| |
12 | g.5045164G>C | CA478095558 | KCNA5 | c.1017G>C (p.Leu339=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045164G= | CA2013431104 | KCNA5 | c.1017G= (p.Leu339=)
| |
12 | g.5045164G>T | CA478095559 | KCNA5 | c.1017G>T (p.Leu339=)
| |
12 | g.5045165C>A | CA383465604 | KCNA5 | c.1018C>A (p.Leu340Ile)
| |
12 | g.5045165C= | CA2013431105 | KCNA5 | c.1018C= (p.Leu340=)
| |
12 | g.5045165C>G | CA383465605 | KCNA5 | c.1018C>G (p.Leu340Val)
| |
12 | g.5045165C>T | CA6399784 | KCNA5 | c.1018C>T (p.Leu340Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045166T>A | CA383465608 | KCNA5 | c.1019T>A (p.Leu340His)
| |
12 | g.5045166T>C | CA383465607 | KCNA5 | c.1019T>C (p.Leu340Pro)
| |
12 | g.5045166T>G | CA383465606 | KCNA5 | c.1019T>G (p.Leu340Arg)
| |
12 | g.5045167C>A | CA478095564 | KCNA5 | c.1020C>A (p.Leu340=)
| |
12 | g.5045167C= | CA2013431106 | KCNA5 | c.1020C= (p.Leu340=)
| |
12 | g.5045167C>G | CA231868351 | KCNA5 | c.1020C>G (p.Leu340=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045167C>T | CA6399785 | KCNA5 | c.1020C>T (p.Leu340=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045168G>A | CA6399787 | KCNA5 | c.1021G>A (p.Val341Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045168G>C | CA6399788 | KCNA5 | c.1021G>C (p.Val341Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045168G= | CA2013431107 | KCNA5 | c.1021G= (p.Val341=)
| |
12 | g.5045168G>T | CA6399786 | KCNA5 | c.1021G>T (p.Val341Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045169T>A | CA231868361 | KCNA5 | c.1022T>A (p.Val341Glu)
| dbSNP |
12 | g.5045169T>C | CA383465609 | KCNA5 | c.1022T>C (p.Val341Ala)
| |
12 | g.5045169T>G | CA383465610 | KCNA5 | c.1022T>G (p.Val341Gly)
| |
12 | g.5045169T= | CA2013431108 | KCNA5 | c.1022T= (p.Val341=)
| |
12 | g.5045170G>A | CA6399789 | KCNA5 | c.1023G>A (p.Val341=)
| dbSNP ExAC gnomAD v4 |
12 | g.5045170G>C | CA478095567 | KCNA5 | c.1023G>C (p.Val341=)
| |
12 | g.5045170G= | CA2013431109 | KCNA5 | c.1023G= (p.Val341=)
| |
12 | g.5045170G>T | CA478095569 | KCNA5 | c.1023G>T (p.Val341=)
| |
12 | g.5045171C>A | CA383465611 | KCNA5 | c.1024C>A (p.Arg342Ser)
| ClinVar COSMIC |
12 | g.5045171C= | CA2013431110 | KCNA5 | c.1024C= (p.Arg342=)
| |
12 | g.5045171C>G | CA383465612 | KCNA5 | c.1024C>G (p.Arg342Gly)
| |
12 | g.5045171C>T | CA383465613 | KCNA5 | c.1024C>T (p.Arg342Cys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045172G>A | CA383465615 | KCNA5 | c.1025G>A (p.Arg342His)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045172G>C | CA383465616 | KCNA5 | c.1025G>C (p.Arg342Pro)
| |
12 | g.5045172G= | CA2013431111 | KCNA5 | c.1025G= (p.Arg342=)
| |
12 | g.5045172G>T | CA383465614 | KCNA5 | c.1025G>T (p.Arg342Leu)
| ClinVar dbSNP COSMIC |
12 | g.5045173C>A | CA478095572 | KCNA5 | c.1026C>A (p.Arg342=)
| |
12 | g.5045173C>G | CA478095574 | KCNA5 | c.1026C>G (p.Arg342=)
| |
12 | g.5045173C>T | CA478095573 | KCNA5 | c.1026C>T (p.Arg342=)
| gnomAD v4 |
12 | g.5045174T>A | CA383465617 | KCNA5 | c.1027T>A (p.Phe343Ile)
| |
12 | g.5045174T>C | CA383465618 | KCNA5 | c.1027T>C (p.Phe343Leu)
| |
12 | g.5045174T>G | CA383465619 | KCNA5 | c.1027T>G (p.Phe343Val)
| |
12 | g.5045175T>A | CA383465620 | KCNA5 | c.1028T>A (p.Phe343Tyr)
| |
12 | g.5045175T>C | CA383465621 | KCNA5 | c.1028T>C (p.Phe343Ser)
| |
12 | g.5045175T>G | CA383465622 | KCNA5 | c.1028T>G (p.Phe343Cys)
| |
12 | g.5045176C>A | CA383465624 | KCNA5 | c.1029C>A (p.Phe343Leu)
| |
12 | g.5045176C>G | CA383465623 | KCNA5 | c.1029C>G (p.Phe343Leu)
| |
12 | g.5045176C>T | CA478095577 | KCNA5 | c.1029C>T (p.Phe343=)
| gnomAD v4 |
12 | g.5045177T>A | CA383465625 | KCNA5 | c.1030T>A (p.Phe344Ile)
| |
12 | g.5045177T>C | CA383465626 | KCNA5 | c.1030T>C (p.Phe344Leu)
| |
12 | g.5045177T>G | CA383465627 | KCNA5 | c.1030T>G (p.Phe344Val)
| |
12 | g.5045178T>A | CA383465628 | KCNA5 | c.1031T>A (p.Phe344Tyr)
| |
12 | g.5045178T>C | CA383465629 | KCNA5 | c.1031T>C (p.Phe344Ser)
| gnomAD v4 |
12 | g.5045178T>G | CA383465630 | KCNA5 | c.1031T>G (p.Phe344Cys)
| |
12 | g.5045179C>A | CA383465631 | KCNA5 | c.1032C>A (p.Phe344Leu)
| |
12 | g.5045179C= | CA2013431112 | KCNA5 | c.1032C= (p.Phe344=)
| |
12 | g.5045179C>G | CA383465632 | KCNA5 | c.1032C>G (p.Phe344Leu)
| |
12 | g.5045179C>T | CA6399790 | KCNA5 | c.1032C>T (p.Phe344=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045180G>A | CA383465633 | KCNA5 | c.1033G>A (p.Ala345Thr)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045180G>C | CA383465634 | KCNA5 | c.1033G>C (p.Ala345Pro)
| |
12 | g.5045180G= | CA2013431113 | KCNA5 | c.1033G= (p.Ala345=)
| |
12 | g.5045180G>T | CA383465635 | KCNA5 | c.1033G>T (p.Ala345Ser)
| |
12 | g.5045181C>A | CA383465636 | KCNA5 | c.1034C>A (p.Ala345Asp)
| |
12 | g.5045181C>G | CA383465637 | KCNA5 | c.1034C>G (p.Ala345Gly)
| |
12 | g.5045181C>T | CA383465638 | KCNA5 | c.1034C>T (p.Ala345Val)
| |
12 | g.5045182C>A | CA478095585 | KCNA5 | c.1035C>A (p.Ala345=)
| |
12 | g.5045182C>G | CA478095586 | KCNA5 | c.1035C>G (p.Ala345=)
| |
12 | g.5045182C>T | CA478095587 | KCNA5 | c.1035C>T (p.Ala345=)
| |
12 | g.5045183T>A | CA383465639 | KCNA5 | c.1036T>A (p.Cys346Ser)
| |
12 | g.5045183T>C | CA383465640 | KCNA5 | c.1036T>C (p.Cys346Arg)
| dbSNP gnomAD v4 |
12 | g.5045183T>G | CA383465641 | KCNA5 | c.1036T>G (p.Cys346Gly)
| |
12 | g.5045184G>A | CA383465642 | KCNA5 | c.1037G>A (p.Cys346Tyr)
| |
12 | g.5045184G>C | CA383465643 | KCNA5 | c.1037G>C (p.Cys346Ser)
| |
12 | g.5045184G>T | CA383465644 | KCNA5 | c.1037G>T (p.Cys346Phe)
| |
12 | g.5045185C>A | CA6399791 | KCNA5 | c.1038C>A (p.Cys346Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045185C= | CA2013431114 | KCNA5 | c.1038C= (p.Cys346=)
| |
12 | g.5045185C>G | CA383465645 | KCNA5 | c.1038C>G (p.Cys346Trp)
| dbSNP |
12 | g.5045185C>T | CA478095588 | KCNA5 | c.1038C>T (p.Cys346=)
| gnomAD v4 |
12 | g.5045188del | CA2617209913 | KCNA5 | c.1041del (p.Ser348AlafsTer10)
| gnomAD v4 |
12 | g.5045186C>A | CA383465646 | KCNA5 | c.1039C>A (p.Pro347Thr)
| |
12 | g.5045186C= | CA2013431115 | KCNA5 | c.1039C= (p.Pro347=)
| |
12 | g.5045186C>G | CA383465647 | KCNA5 | c.1039C>G (p.Pro347Ala)
| |
12 | g.5045186C>T | CA6399792 | KCNA5 | c.1039C>T (p.Pro347Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045187C>A | CA383465648 | KCNA5 | c.1040C>A (p.Pro347His)
| |
12 | g.5045187C>G | CA383465649 | KCNA5 | c.1040C>G (p.Pro347Arg)
| |
12 | g.5045187C>T | CA383465650 | KCNA5 | c.1040C>T (p.Pro347Leu)
| |
12 | g.5045188C>A | CA478095591 | KCNA5 | c.1041C>A (p.Pro347=)
| |
12 | g.5045188C= | CA2013431116 | KCNA5 | c.1041C= (p.Pro347=)
| |
12 | g.5045188C>G | CA478095593 | KCNA5 | c.1041C>G (p.Pro347=)
| |
12 | g.5045188C>T | CA478095595 | KCNA5 | c.1041C>T (p.Pro347=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045189A>C | CA383465651 | KCNA5 | c.1042A>C (p.Ser348Arg)
| |
12 | g.5045189A>G | CA383465652 | KCNA5 | c.1042A>G (p.Ser348Gly)
| gnomAD v4 |
12 | g.5045189A>T | CA383465653 | KCNA5 | c.1042A>T (p.Ser348Cys)
| |
12 | g.5045190G>A | CA6399793 | KCNA5 | c.1043G>A (p.Ser348Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045190G>C | CA383465654 | KCNA5 | c.1043G>C (p.Ser348Thr)
| |
12 | g.5045190G= | CA2013431117 | KCNA5 | c.1043G= (p.Ser348=)
| |
12 | g.5045190G>T | CA383465655 | KCNA5 | c.1043G>T (p.Ser348Ile)
| |
12 | g.5045191C>A | CA383465656 | KCNA5 | c.1044C>A (p.Ser348Arg)
| gnomAD v4 |
12 | g.5045191C= | CA2013431118 | KCNA5 | c.1044C= (p.Ser348=)
| |
12 | g.5045191C>G | CA383465657 | KCNA5 | c.1044C>G (p.Ser348Arg)
| |
12 | g.5045191C>T | CA231868393 | KCNA5 | c.1044C>T (p.Ser348=)
| dbSNP |
12 | g.5045192A= | CA2013431119 | KCNA5 | c.1045A= (p.Lys349=)
| |
12 | g.5045192A>C | CA383465660 | KCNA5 | c.1045A>C (p.Lys349Gln)
| |
12 | g.5045192A>G | CA383465659 | KCNA5 | c.1045A>G (p.Lys349Glu)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045192A>T | CA383465658 | KCNA5 | c.1045A>T (p.Lys349Ter)
| |
12 | g.5045193A= | CA2013431120 | KCNA5 | c.1046A= (p.Lys349=)
| |
12 | g.5045193A>C | CA383465661 | KCNA5 | c.1046A>C (p.Lys349Thr)
| |
12 | g.5045193A>G | CA383465662 | KCNA5 | c.1046A>G (p.Lys349Arg)
| dbSNP gnomAD v2 |
12 | g.5045193A>T | CA383465663 | KCNA5 | c.1046A>T (p.Lys349Met)
| |
12 | g.5045194G>A | CA478095601 | KCNA5 | c.1047G>A (p.Lys349=)
| |
12 | g.5045194G>C | CA383465664 | KCNA5 | c.1047G>C (p.Lys349Asn)
| |
12 | g.5045194G>T | CA383465665 | KCNA5 | c.1047G>T (p.Lys349Asn)
| |
12 | g.5045195G>A | CA383465666 | KCNA5 | c.1048G>A (p.Ala350Thr)
| |
12 | g.5045195G>C | CA383465667 | KCNA5 | c.1048G>C (p.Ala350Pro)
| |
12 | g.5045195G>T | CA383465668 | KCNA5 | c.1048G>T (p.Ala350Ser)
| |
12 | g.5045196C>A | CA383465669 | KCNA5 | c.1049C>A (p.Ala350Glu)
| |
12 | g.5045196C= | CA2013431121 | KCNA5 | c.1049C= (p.Ala350=)
| |
12 | g.5045196C>G | CA383465670 | KCNA5 | c.1049C>G (p.Ala350Gly)
| |
12 | g.5045196C>T | CA383465671 | KCNA5 | c.1049C>T (p.Ala350Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045197A= | CA2013431122 | KCNA5 | c.1050A= (p.Ala350=)
| |
12 | g.5045197A>C | CA478095606 | KCNA5 | c.1050A>C (p.Ala350=)
| |
12 | g.5045197A>G | CA478095609 | KCNA5 | c.1050A>G (p.Ala350=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045197A>T | CA478095608 | KCNA5 | c.1050A>T (p.Ala350=)
| |
12 | g.5045198G>A | CA383465672 | KCNA5 | c.1051G>A (p.Gly351Arg)
| |
12 | g.5045198G>C | CA383465673 | KCNA5 | c.1051G>C (p.Gly351Arg)
| |
12 | g.5045198G>T | CA383465674 | KCNA5 | c.1051G>T (p.Gly351Trp)
| |
12 | g.5045200del | CA2573148460 | KCNA5 | c.1053del (p.Phe352SerfsTer6)
| ClinVar dbSNP |
12 | g.5045199G>A | CA383465676 | KCNA5 | c.1052G>A (p.Gly351Glu)
| gnomAD v4 |
12 | g.5045199G>C | CA6399794 | KCNA5 | c.1052G>C (p.Gly351Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045199G= | CA2013431123 | KCNA5 | c.1052G= (p.Gly351=)
| |
12 | g.5045199G>T | CA383465675 | KCNA5 | c.1052G>T (p.Gly351Val)
| |
12 | g.5045200G>A | CA478095613 | KCNA5 | c.1053G>A (p.Gly351=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045200G>C | CA478095614 | KCNA5 | c.1053G>C (p.Gly351=)
| |
12 | g.5045200G= | CA2013431124 | KCNA5 | c.1053G= (p.Gly351=)
| |
12 | g.5045200G>T | CA478095615 | KCNA5 | c.1053G>T (p.Gly351=)
| gnomAD v4 |
12 | g.5045201T>A | CA383465677 | KCNA5 | c.1054T>A (p.Phe352Ile)
| |
12 | g.5045201T>C | CA383465678 | KCNA5 | c.1054T>C (p.Phe352Leu)
| dbSNP gnomAD v4 |
12 | g.5045201T>G | CA383465679 | KCNA5 | c.1054T>G (p.Phe352Val)
| dbSNP |
12 | g.5045201T= | CA2013431125 | KCNA5 | c.1054T= (p.Phe352=)
| |
12 | g.5045202T>A | CA383465680 | KCNA5 | c.1055T>A (p.Phe352Tyr)
| |
12 | g.5045202T>C | CA383465681 | KCNA5 | c.1055T>C (p.Phe352Ser)
| COSMIC |
12 | g.5045202T>G | CA383465682 | KCNA5 | c.1055T>G (p.Phe352Cys)
| |
12 | g.5045203C>A | CA383465683 | KCNA5 | c.1056C>A (p.Phe352Leu)
| |
12 | g.5045203C>G | CA383465684 | KCNA5 | c.1056C>G (p.Phe352Leu)
| |
12 | g.5045203C>T | CA478095619 | KCNA5 | c.1056C>T (p.Phe352=)
| |
12 | g.5045204T>A | CA383465685 | KCNA5 | c.1057T>A (p.Ser353Thr)
| |
12 | g.5045204T>C | CA383465686 | KCNA5 | c.1057T>C (p.Ser353Pro)
| |
12 | g.5045204T>G | CA383465687 | KCNA5 | c.1057T>G (p.Ser353Ala)
| |
12 | g.5045205C>A | CA383465688 | KCNA5 | c.1058C>A (p.Ser353Tyr)
| |
12 | g.5045205C>G | CA383465689 | KCNA5 | c.1058C>G (p.Ser353Cys)
| |
12 | g.5045205C>T | CA383465690 | KCNA5 | c.1058C>T (p.Ser353Phe)
| gnomAD v4 |
12 | g.5045206C>A | CA478095621 | KCNA5 | c.1059C>A (p.Ser353=)
| |
12 | g.5045206C>G | CA478095624 | KCNA5 | c.1059C>G (p.Ser353=)
| gnomAD v4 COSMIC |
12 | g.5045206C>T | CA478095626 | KCNA5 | c.1059C>T (p.Ser353=)
| |
12 | g.5045207C>A | CA478095629 | KCNA5 | c.1060C>A (p.Arg354=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045207C= | CA2013431126 | KCNA5 | c.1060C= (p.Arg354=)
| |
12 | g.5045207C>G | CA383465691 | KCNA5 | c.1060C>G (p.Arg354Gly)
| |
12 | g.5045207C>T | CA6399795 | KCNA5 | c.1060C>T (p.Arg354Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045208G>A | CA383465692 | KCNA5 | c.1061G>A (p.Arg354Gln)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045208G>C | CA383465693 | KCNA5 | c.1061G>C (p.Arg354Pro)
| |
12 | g.5045208G= | CA2013431127 | KCNA5 | c.1061G= (p.Arg354=)
| |
12 | g.5045208G>T | CA383465694 | KCNA5 | c.1061G>T (p.Arg354Leu)
| |
12 | g.5045209G>A | CA478095632 | KCNA5 | c.1062G>A (p.Arg354=)
| |
12 | g.5045209G>C | CA478095633 | KCNA5 | c.1062G>C (p.Arg354=)
| |
12 | g.5045209G= | CA2013431128 | KCNA5 | c.1062G= (p.Arg354=)
| |
12 | g.5045209G>T | CA6399796 | KCNA5 | c.1062G>T (p.Arg354=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045218_5045226dup | CA603482592 | KCNA5 | c.1071_1079dup (p.Ile359_Ile360insMetAsnIle)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045210A>C | CA383465695 | KCNA5 | c.1063A>C (p.Asn355His)
| |
12 | g.5045210A>G | CA383465696 | KCNA5 | c.1063A>G (p.Asn355Asp)
| gnomAD v4 |
12 | g.5045210A>T | CA383465697 | KCNA5 | c.1063A>T (p.Asn355Tyr)
| |
12 | g.5045211A>C | CA383465698 | KCNA5 | c.1064A>C (p.Asn355Thr)
| |
12 | g.5045211A>G | CA383465699 | KCNA5 | c.1064A>G (p.Asn355Ser)
| |
12 | g.5045211A>T | CA383465700 | KCNA5 | c.1064A>T (p.Asn355Ile)
| |
12 | g.5045212C>A | CA383465701 | KCNA5 | c.1065C>A (p.Asn355Lys)
| gnomAD v4 |
12 | g.5045212C= | CA2013431129 | KCNA5 | c.1065C= (p.Asn355=)
| |
12 | g.5045212C>G | CA383465702 | KCNA5 | c.1065C>G (p.Asn355Lys)
| |
12 | g.5045212C>T | CA478095635 | KCNA5 | c.1065C>T (p.Asn355=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045213A>C | CA383465703 | KCNA5 | c.1066A>C (p.Ile356Leu)
| |
12 | g.5045213A>G | CA383465705 | KCNA5 | c.1066A>G (p.Ile356Val)
| |
12 | g.5045213A>T | CA383465704 | KCNA5 | c.1066A>T (p.Ile356Phe)
| |
12 | g.5045214T>A | CA383465706 | KCNA5 | c.1067T>A (p.Ile356Asn)
| |
12 | g.5045214T>C | CA383465707 | KCNA5 | c.1067T>C (p.Ile356Thr)
| |
12 | g.5045214T>G | CA383465708 | KCNA5 | c.1067T>G (p.Ile356Ser)
| |
12 | g.5045215C>A | CA478095640 | KCNA5 | c.1068C>A (p.Ile356=)
| |
12 | g.5045215C>G | CA383465709 | KCNA5 | c.1068C>G (p.Ile356Met)
| gnomAD v4 |
12 | g.5045215C>T | CA478095642 | KCNA5 | c.1068C>T (p.Ile356=)
| |
12 | g.5045216A= | CA2013431130 | KCNA5 | c.1069A= (p.Met357=)
| |
12 | g.5045216A>C | CA383465710 | KCNA5 | c.1069A>C (p.Met357Leu)
| |
12 | g.5045216A>G | CA231868413 | KCNA5 | c.1069A>G (p.Met357Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045216A>T | CA383465711 | KCNA5 | c.1069A>T (p.Met357Leu)
| |
12 | g.5045217T>A | CA383465713 | KCNA5 | c.1070T>A (p.Met357Lys)
| |
12 | g.5045217T>C | CA6399797 | KCNA5 | c.1070T>C (p.Met357Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045217T>G | CA383465712 | KCNA5 | c.1070T>G (p.Met357Arg)
| |
12 | g.5045217T= | CA2013431131 | KCNA5 | c.1070T= (p.Met357=)
| |
12 | g.5045218G>A | CA383465714 | KCNA5 | c.1071G>A (p.Met357Ile)
| |
12 | g.5045218G>C | CA383465715 | KCNA5 | c.1071G>C (p.Met357Ile)
| |
12 | g.5045218G>T | CA383465716 | KCNA5 | c.1071G>T (p.Met357Ile)
| |
12 | g.5045219A>C | CA383465717 | KCNA5 | c.1072A>C (p.Asn358His)
| |
12 | g.5045219A>G | CA383465718 | KCNA5 | c.1072A>G (p.Asn358Asp)
| |
12 | g.5045219A>T | CA383465719 | KCNA5 | c.1072A>T (p.Asn358Tyr)
| |
12 | g.5045220_5045222del | CA2617209914 | KCNA5 | c.1073_1075del (p.Asn358del)
| gnomAD v4 |
12 | g.5045220A>C | CA383465720 | KCNA5 | c.1073A>C (p.Asn358Thr)
| |
12 | g.5045220A>G | CA383465722 | KCNA5 | c.1073A>G (p.Asn358Ser)
| |
12 | g.5045220A>T | CA383465721 | KCNA5 | c.1073A>T (p.Asn358Ile)
| |
12 | g.5045221C>A | CA383465723 | KCNA5 | c.1074C>A (p.Asn358Lys)
| |
12 | g.5045221C>G | CA383465724 | KCNA5 | c.1074C>G (p.Asn358Lys)
| |
12 | g.5045221C>T | CA478095648 | KCNA5 | c.1074C>T (p.Asn358=)
| |
12 | g.5045222A= | CA2013431132 | KCNA5 | c.1075A= (p.Ile359=)
| |
12 | g.5045222A>C | CA383465725 | KCNA5 | c.1075A>C (p.Ile359Leu)
| |
12 | g.5045222A>G | CA6399798 | KCNA5 | c.1075A>G (p.Ile359Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045222A>T | CA383465726 | KCNA5 | c.1075A>T (p.Ile359Phe)
| |
12 | g.5045222_5045223del | CA2617209915 | KCNA5 | c.1075_1076del (p.Ile359HisfsTer?)
| gnomAD v4 |
12 | g.5045223T>A | CA383465727 | KCNA5 | c.1076T>A (p.Ile359Asn)
| |
12 | g.5045223T>C | CA383465728 | KCNA5 | c.1076T>C (p.Ile359Thr)
| |
12 | g.5045223T>G | CA383465729 | KCNA5 | c.1076T>G (p.Ile359Ser)
| |
12 | g.5045224C>A | CA478095649 | KCNA5 | c.1077C>A (p.Ile359=)
| |
12 | g.5045224C>G | CA383465730 | KCNA5 | c.1077C>G (p.Ile359Met)
| |
12 | g.5045224C>T | CA478095650 | KCNA5 | c.1077C>T (p.Ile359=)
| gnomAD v4 COSMIC |
12 | g.5045225A>C | CA383465731 | KCNA5 | c.1078A>C (p.Ile360Leu)
| |
12 | g.5045225A>G | CA383465732 | KCNA5 | c.1078A>G (p.Ile360Val)
| ClinVar gnomAD v4 |
12 | g.5045225A>T | CA383465733 | KCNA5 | c.1078A>T (p.Ile360Phe)
| |
12 | g.5045226T>A | CA383465734 | KCNA5 | c.1079T>A (p.Ile360Asn)
| |
12 | g.5045226T>C | CA383465736 | KCNA5 | c.1079T>C (p.Ile360Thr)
| dbSNP |
12 | g.5045226T>G | CA383465735 | KCNA5 | c.1079T>G (p.Ile360Ser)
| |
12 | g.5045226T= | CA2013431133 | KCNA5 | c.1079T= (p.Ile360=)
| |
12 | g.5045227C>A | CA478095652 | KCNA5 | c.1080C>A (p.Ile360=)
| |
12 | g.5045227C= | CA2013431134 | KCNA5 | c.1080C= (p.Ile360=)
| |
12 | g.5045227C>G | CA383465737 | KCNA5 | c.1080C>G (p.Ile360Met)
| |
12 | g.5045227C>T | CA6399799 | KCNA5 | c.1080C>T (p.Ile360=)
| dbSNP ExAC gnomAD v4 |