view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHNAK2_chr14_104932253_104983374 | 104947584 | C | T | missense_variant | MODERATE | HG02027.hp2 HG02132.hp1 |
a0027 | a0027c0034 | a0027c0034t0002 | a0027c0034t0002g0200 a0027c0034t0002g0201 |
2 | 354 | 0.0056 | 0 | c.786 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8004/18335 | 7867/17388 | 2623/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947587 | T | C | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.786 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 8001/18335 | 7864/17388 | 2622/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947596 | G | C | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.785 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7992/18335 | 7855/17388 | 2619/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947611 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.784 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7977/18335 | 7840/17388 | 2614/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947614 | T | C | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.783 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7974/18335 | 7837/17388 | 2613/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947617 | A | G | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0075 | a0032c0021a0075c0063 | a0032c0021t0009a0075c0063t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 |
3 | 354 | 0.0085 | 0 | c.783 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7971/18335 | 7834/17388 | 2612/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947619 | A | T | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.783 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7969/18335 | 7832/17388 | 2611/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947626 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0075 | a0032c0021a0075c0063 | a0032c0021t0009a0075c0063t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 |
3 | 354 | 0.0085 | 0 | c.782 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7962/18335 | 7825/17388 | 2609/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947629 | C | T | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.782 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7959/18335 | 7822/17388 | 2608/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947640 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.781 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7948/18335 | 7811/17388 | 2604/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947648 | T | G | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.780 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7940/18335 | 7803/17388 | 2601/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947653 | C | T | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.779 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7935/18335 | 7798/17388 | 2600/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947661 | C | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.779 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7927/18335 | 7790/17388 | 2597/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947674 | G | C | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.777 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7914/18335 | 7777/17388 | 2593/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947675 | C | G | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.777 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7913/18335 | 7776/17388 | 2592/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947689 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0075 | a0032c0021a0075c0063 | a0032c0021t0009a0075c0063t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 |
3 | 354 | 0.0085 | 0 | c.776 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7899/18335 | 7762/17388 | 2588/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947695 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 352 | 0.0057 | 0 | c.775 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7893/18335 | 7756/17388 | 2586/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947695 | G | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 352 | 0.0057 | 0 | c.775 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7893/18335 | 7756/17388 | 2586/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947704 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.774 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7884/18335 | 7747/17388 | 2583/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947709 | A | T | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.774 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7879/18335 | 7742/17388 | 2581/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947714 | C | T | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 353 | 0.0028 | 0 | c.773 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7874/18335 | 7737/17388 | 2579/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947716 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.773 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7872/18335 | 7735/17388 | 2579/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947719 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0075 | a0032c0021a0075c0063 | a0032c0021t0009a0075c0063t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 |
3 | 354 | 0.0085 | 0 | c.773 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7869/18335 | 7732/17388 | 2578/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947743 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.770 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7845/18335 | 7708/17388 | 2570/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947746 | C | A | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 353 | 0.0028 | 0 | c.770 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7842/18335 | 7705/17388 | 2569/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947746 | C | G | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 353 | 0.0028 | 0 | c.770 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7842/18335 | 7705/17388 | 2569/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947781 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.767 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7807/18335 | 7670/17388 | 2557/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947787 | G | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.766 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7801/18335 | 7664/17388 | 2555/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947805 | A | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.764 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7783/18335 | 7646/17388 | 2549/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947834 | G | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.761 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7754/18335 | 7617/17388 | 2539/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947836 | C | G | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.761 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7752/18335 | 7615/17388 | 2539/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947847 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.760 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7741/18335 | 7604/17388 | 2535/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947851 | G | C | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.760 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7737/18335 | 7600/17388 | 2534/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947860 | G | T | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.759 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7728/18335 | 7591/17388 | 2531/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947868 | G | T | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.758 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7720/18335 | 7583/17388 | 2528/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947869 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0075a0086 | a0032c0021a0075c0063a0086c0099 | a0032c0021t0009a0075c0063t0001a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show |
4 | 354 | 0.0113 | 0 | c.758 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7719/18335 | 7582/17388 | 2528/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947893 | A | G | missense_variant | MODERATE | HG02559.hp2 HG02630.hp2 HG02723.hp2 others(11): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(6): Show | a0001c0001t0001g0003 a0001c0002t0001g0001 a0002c0003t0002g0038 others(8): Show |
14 | 354 | 0.0395 | 0 | c.755 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7695/18335 | 7558/17388 | 2520/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947901 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(154): Show |
a0002a0003a0004others(61): Show | a0002c0003a0002c0005a0002c0038others(75): Show | a0002c0003t0002a0002c0005t0002a0002c0038t0002others(76): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(119): Show |
157 | 354 | 0.4435 | 0 | c.755 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7687/18335 | 7550/17388 | 2517/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947902 | C | T | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.754 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7686/18335 | 7549/17388 | 2517/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947913 | A | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.753 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7675/18335 | 7538/17388 | 2513/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947919 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 HG03130.hp1 |
a0032a0086 | a0032c0021a0086c0099 | a0032c0021t0009a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216 |
3 | 354 | 0.0085 | 0 | c.753 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7669/18335 | 7532/17388 | 2511/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947922 | G | T | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.752 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7666/18335 | 7529/17388 | 2510/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947937 | G | A | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.751 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7651/18335 | 7514/17388 | 2505/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947940 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0075 | a0075c0063 | a0075c0063t0001 | a0075c0063t0001g0111 | 1 | 354 | 0.0028 | 0 | c.751 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7648/18335 | 7511/17388 | 2504/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947943 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(281): Show |
a0001a0002a0003others(97): Show | a0001c0001a0001c0002a0001c0040others(122): Show | a0001c0001t0001a0001c0002t0001a0001c0040t0001others(126): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 others(210): Show |
284 | 354 | 0.8023 | 0 | c.750 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7645/18335 | 7508/17388 | 2503/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947944 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.750 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7644/18335 | 7507/17388 | 2503/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947953 | T | C | missense_variant | MODERATE | HG03130.hp1 | a0086 | a0086c0099 | a0086c0099t0001 | a0086c0099t0001g0216 | 1 | 354 | 0.0028 | 0 | c.749 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7635/18335 | 7498/17388 | 2500/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947967 | A | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.748 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7621/18335 | 7484/17388 | 2495/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947971 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 HG03130.hp1 |
a0032a0086 | a0032c0021a0086c0099 | a0032c0021t0009a0086c0099t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216 |
3 | 354 | 0.0085 | 0 | c.748 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7617/18335 | 7480/17388 | 2494/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104947973 | A | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.747 others(4): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7615/18335 | 7478/17388 | 2493/5795 | chr14 | TogoVar |