| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169541744C>A | CA343118405 | F5 | c.3346G>T (p.Gly1116Cys) c.3361G>T (p.Gly1121Cys) c.2935G>T (p.Gly979Cys) | |
| 1 | g.169541744C>G | CA343118410 | F5 | c.3346G>C (p.Gly1116Arg) c.3361G>C (p.Gly1121Arg) c.2935G>C (p.Gly979Arg) | gnomAD v4 |
| 1 | g.169541744C>T | CA343118412 | F5 | c.3346G>A (p.Gly1116Ser) c.3361G>A (p.Gly1121Ser) c.2935G>A (p.Gly979Ser) | |
| 1 | g.169541745T>A | CA421930563 | F5 | c.3345A>T (p.Pro1115=) c.3360A>T (p.Pro1120=) c.2934A>T (p.Pro978=) | |
| 1 | g.169541745T>C | CA32385333 | F5 | c.3345A>G (p.Pro1115=) c.3360A>G (p.Pro1120=) c.2934A>G (p.Pro978=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541745T>G | CA421930564 | F5 | c.3345A>C (p.Pro1115=) c.3360A>C (p.Pro1120=) c.2934A>C (p.Pro978=) | |
| 1 | g.169541745T= | CA1206132416 | F5 | c.3345A= (p.Pro1115=) c.3360A= (p.Pro1120=) c.2934A= (p.Pro978=) | |
| 1 | g.169541746G>A | CA1233929 | F5 | c.3344C>T (p.Pro1115Leu) c.3359C>T (p.Pro1120Leu) c.2933C>T (p.Pro978Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541746G>C | CA343118416 | F5 | c.3344C>G (p.Pro1115Arg) c.3359C>G (p.Pro1120Arg) c.2933C>G (p.Pro978Arg) | |
| 1 | g.169541746G= | CA1206132418 | F5 | c.3344C= (p.Pro1115=) c.3359C= (p.Pro1120=) c.2933C= (p.Pro978=) | |
| 1 | g.169541746G>T | CA343118419 | F5 | c.3344C>A (p.Pro1115Gln) c.3359C>A (p.Pro1120Gln) c.2933C>A (p.Pro978Gln) | |
| 1 | g.169541747G>A | CA343118422 | F5 | c.3343C>T (p.Pro1115Ser) c.3358C>T (p.Pro1120Ser) c.2932C>T (p.Pro978Ser) | gnomAD v4 |
| 1 | g.169541747G>C | CA343118425 | F5 | c.3343C>G (p.Pro1115Ala) c.3358C>G (p.Pro1120Ala) c.2932C>G (p.Pro978Ala) | |
| 1 | g.169541747G>T | CA343118427 | F5 | c.3343C>A (p.Pro1115Thr) c.3358C>A (p.Pro1120Thr) c.2932C>A (p.Pro978Thr) | |
| 1 | g.169541748A>C | CA421930571 | F5 | c.3342T>G (p.Pro1114=) c.3357T>G (p.Pro1119=) c.2931T>G (p.Pro977=) | |
| 1 | g.169541748A>G | CA421930568 | F5 | c.3342T>C (p.Pro1114=) c.3357T>C (p.Pro1119=) c.2931T>C (p.Pro977=) | |
| 1 | g.169541748A>T | CA421930570 | F5 | c.3342T>A (p.Pro1114=) c.3357T>A (p.Pro1119=) c.2931T>A (p.Pro977=) | |
| 1 | g.169541749G>A | CA343118429 | F5 | c.3341C>T (p.Pro1114Leu) c.3356C>T (p.Pro1119Leu) c.2930C>T (p.Pro977Leu) | |
| 1 | g.169541749G>C | CA343118431 | F5 | c.3341C>G (p.Pro1114Arg) c.3356C>G (p.Pro1119Arg) c.2930C>G (p.Pro977Arg) | |
| 1 | g.169541749G>T | CA343118433 | F5 | c.3341C>A (p.Pro1114His) c.3356C>A (p.Pro1119His) c.2930C>A (p.Pro977His) | |
| 1 | g.169541750G>A | CA343118440 | F5 | c.3340C>T (p.Pro1114Ser) c.3355C>T (p.Pro1119Ser) c.2929C>T (p.Pro977Ser) | |
| 1 | g.169541750G>C | CA343118438 | F5 | c.3340C>G (p.Pro1114Ala) c.3355C>G (p.Pro1119Ala) c.2929C>G (p.Pro977Ala) | |
| 1 | g.169541750G>T | CA343118435 | F5 | c.3340C>A (p.Pro1114Thr) c.3355C>A (p.Pro1119Thr) c.2929C>A (p.Pro977Thr) | |
| 1 | g.169541751A= | CA1206132419 | F5 | c.3339T= (p.Cys1113=) c.3354T= (p.Cys1118=) c.2928T= (p.Cys976=) | |
| 1 | g.169541751A>C | CA343118443 | F5 | c.3339T>G (p.Cys1113Trp) c.3354T>G (p.Cys1118Trp) c.2928T>G (p.Cys976Trp) | |
| 1 | g.169541751A>G | CA421930574 | F5 | c.3339T>C (p.Cys1113=) c.3354T>C (p.Cys1118=) c.2928T>C (p.Cys976=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541751A>T | CA343118448 | F5 | c.3339T>A (p.Cys1113Ter) c.3354T>A (p.Cys1118Ter) c.2928T>A (p.Cys976Ter) | |
| 1 | g.169541752C>A | CA343118449 | F5 | c.3338G>T (p.Cys1113Phe) c.3353G>T (p.Cys1118Phe) c.2927G>T (p.Cys976Phe) | |
| 1 | g.169541752C>G | CA343118450 | F5 | c.3338G>C (p.Cys1113Ser) c.3353G>C (p.Cys1118Ser) c.2927G>C (p.Cys976Ser) | |
| 1 | g.169541752C>T | CA343118451 | F5 | c.3338G>A (p.Cys1113Tyr) c.3353G>A (p.Cys1118Tyr) c.2927G>A (p.Cys976Tyr) | |
| 1 | g.169541753A>C | CA343118452 | F5 | c.3337T>G (p.Cys1113Gly) c.3352T>G (p.Cys1118Gly) c.2926T>G (p.Cys976Gly) | |
| 1 | g.169541753A>G | CA343118454 | F5 | c.3337T>C (p.Cys1113Arg) c.3352T>C (p.Cys1118Arg) c.2926T>C (p.Cys976Arg) | |
| 1 | g.169541753A>T | CA343118456 | F5 | c.3337T>A (p.Cys1113Ser) c.3352T>A (p.Cys1118Ser) c.2926T>A (p.Cys976Ser) | |
| 1 | g.169541754G>A | CA421930578 | F5 | c.3336C>T (p.Ser1112=) c.3351C>T (p.Ser1117=) c.2925C>T (p.Ser975=) | gnomAD v4 |
| 1 | g.169541754G>C | CA343118458 | F5 | c.3336C>G (p.Ser1112Arg) c.3351C>G (p.Ser1117Arg) c.2925C>G (p.Ser975Arg) | |
| 1 | g.169541754G>T | CA343118465 | F5 | c.3336C>A (p.Ser1112Arg) c.3351C>A (p.Ser1117Arg) c.2925C>A (p.Ser975Arg) | |
| 1 | g.169541755C>A | CA343118467 | F5 | c.3335G>T (p.Ser1112Ile) c.3350G>T (p.Ser1117Ile) c.2924G>T (p.Ser975Ile) | |
| 1 | g.169541755C>G | CA343118470 | F5 | c.3335G>C (p.Ser1112Thr) c.3350G>C (p.Ser1117Thr) c.2924G>C (p.Ser975Thr) | ClinVar |
| 1 | g.169541755C>T | CA343118473 | F5 | c.3335G>A (p.Ser1112Asn) c.3350G>A (p.Ser1117Asn) c.2924G>A (p.Ser975Asn) | dbSNP gnomAD v4 |
| 1 | g.169541756T>A | CA343118480 | F5 | c.3334A>T (p.Ser1112Cys) c.3349A>T (p.Ser1117Cys) c.2923A>T (p.Ser975Cys) | |
| 1 | g.169541756T>C | CA343118476 | F5 | c.3334A>G (p.Ser1112Gly) c.3349A>G (p.Ser1117Gly) c.2923A>G (p.Ser975Gly) | gnomAD v4 |
| 1 | g.169541756T>G | CA343118478 | F5 | c.3334A>C (p.Ser1112Arg) c.3349A>C (p.Ser1117Arg) c.2923A>C (p.Ser975Arg) | |
| 1 | g.169541757T>A | CA421930584 | F5 | c.3333A>T (p.Ala1111=) c.3348A>T (p.Ala1116=) c.2922A>T (p.Ala974=) | |
| 1 | g.169541757T>C | CA421930586 | F5 | c.3333A>G (p.Ala1111=) c.3348A>G (p.Ala1116=) c.2922A>G (p.Ala974=) | |
| 1 | g.169541757T>G | CA421930588 | F5 | c.3333A>C (p.Ala1111=) c.3348A>C (p.Ala1116=) c.2922A>C (p.Ala974=) | |
| 1 | g.169541758G>A | CA343118483 | F5 | c.3332C>T (p.Ala1111Val) c.3347C>T (p.Ala1116Val) c.2921C>T (p.Ala974Val) | |
| 1 | g.169541758G>C | CA343118485 | F5 | c.3332C>G (p.Ala1111Gly) c.3347C>G (p.Ala1116Gly) c.2921C>G (p.Ala974Gly) | |
| 1 | g.169541758G>T | CA343118487 | F5 | c.3332C>A (p.Ala1111Glu) c.3347C>A (p.Ala1116Glu) c.2921C>A (p.Ala974Glu) | |
| 1 | g.169541759C>A | CA343118490 | F5 | c.3331G>T (p.Ala1111Ser) c.3346G>T (p.Ala1116Ser) c.2920G>T (p.Ala974Ser) | |
| 1 | g.169541759C= | CA1206132420 | F5 | c.3331G= (p.Ala1111=) c.3346G= (p.Ala1116=) c.2920G= (p.Ala974=) | |
| 1 | g.169541759C>G | CA343118492 | F5 | c.3331G>C (p.Ala1111Pro) c.3346G>C (p.Ala1116Pro) c.2920G>C (p.Ala974Pro) | |
| 1 | g.169541759C>T | CA343118493 | F5 | c.3331G>A (p.Ala1111Thr) c.3346G>A (p.Ala1116Thr) c.2920G>A (p.Ala974Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541760C>A | CA343118496 | F5 | c.3330G>T (p.Gln1110His) c.3345G>T (p.Gln1115His) c.2919G>T (p.Gln973His) | |
| 1 | g.169541760C>G | CA343118499 | F5 | c.3330G>C (p.Gln1110His) c.3345G>C (p.Gln1115His) c.2919G>C (p.Gln973His) | |
| 1 | g.169541760C>T | CA421930594 | F5 | c.3330G>A (p.Gln1110=) c.3345G>A (p.Gln1115=) c.2919G>A (p.Gln973=) | |
| 1 | g.169541761T>A | CA343118501 | F5 | c.3329A>T (p.Gln1110Leu) c.3344A>T (p.Gln1115Leu) c.2918A>T (p.Gln973Leu) | |
| 1 | g.169541761T>C | CA343118502 | F5 | c.3329A>G (p.Gln1110Arg) c.3344A>G (p.Gln1115Arg) c.2918A>G (p.Gln973Arg) | dbSNP |
| 1 | g.169541761T>G | CA343118506 | F5 | c.3329A>C (p.Gln1110Pro) c.3344A>C (p.Gln1115Pro) c.2918A>C (p.Gln973Pro) | |
| 1 | g.169541761T= | CA1206132423 | F5 | c.3329A= (p.Gln1110=) c.3344A= (p.Gln1115=) c.2918A= (p.Gln973=) | |
| 1 | g.169541762G>A | CA343118512 | F5 | c.3328C>T (p.Gln1110Ter) c.3343C>T (p.Gln1115Ter) c.2917C>T (p.Gln973Ter) | |
| 1 | g.169541762G>C | CA32385336 | F5 | c.3328C>G (p.Gln1110Glu) c.3343C>G (p.Gln1115Glu) c.2917C>G (p.Gln973Glu) | dbSNP gnomAD v4 |
| 1 | g.169541762G= | CA1143972055 | F5 | c.3328C= (p.Gln1110=) c.3343C= (p.Gln1115=) c.2917C= (p.Gln973=) | |
| 1 | g.169541762G>T | CA343118509 | F5 | c.3328C>A (p.Gln1110Lys) c.3343C>A (p.Gln1115Lys) c.2917C>A (p.Gln973Lys) | gnomAD v4 |
| 1 | g.169541763A= | CA1206132430 | F5 | c.3327T= (p.Gly1109=) c.3342T= (p.Gly1114=) c.2916T= (p.Gly972=) | |
| 1 | g.169541763A>C | CA421930598 | F5 | c.3327T>G (p.Gly1109=) c.3342T>G (p.Gly1114=) c.2916T>G (p.Gly972=) | |
| 1 | g.169541763A>G | CA32385338 | F5 | c.3327T>C (p.Gly1109=) c.3342T>C (p.Gly1114=) c.2916T>C (p.Gly972=) | dbSNP gnomAD v4 |
| 1 | g.169541763A>T | CA421930602 | F5 | c.3327T>A (p.Gly1109=) c.3342T>A (p.Gly1114=) c.2916T>A (p.Gly972=) | |
| 1 | g.169541764C>A | CA1233930 | F5 | c.3326G>T (p.Gly1109Val) c.3341G>T (p.Gly1114Val) c.2915G>T (p.Gly972Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541764C= | CA1206132433 | F5 | c.3326G= (p.Gly1109=) c.3341G= (p.Gly1114=) c.2915G= (p.Gly972=) | |
| 1 | g.169541764C>G | CA343118516 | F5 | c.3326G>C (p.Gly1109Ala) c.3341G>C (p.Gly1114Ala) c.2915G>C (p.Gly972Ala) | COSMIC |
| 1 | g.169541764C>T | CA343118514 | F5 | c.3326G>A (p.Gly1109Asp) c.3341G>A (p.Gly1114Asp) c.2915G>A (p.Gly972Asp) | |
| 1 | g.169541765C>A | CA343118517 | F5 | c.3325G>T (p.Gly1109Cys) c.3340G>T (p.Gly1114Cys) c.2914G>T (p.Gly972Cys) | |
| 1 | g.169541765C= | CA1142250363 | F5 | c.3325G= (p.Gly1109=) c.3340G= (p.Gly1114=) c.2914G= (p.Gly972=) | |
| 1 | g.169541765C>G | CA343118519 | F5 | c.3325G>C (p.Gly1109Arg) c.3340G>C (p.Gly1114Arg) c.2914G>C (p.Gly972Arg) | |
| 1 | g.169541765C>T | CA1233931 | F5 | c.3325G>A (p.Gly1109Ser) c.3340G>A (p.Gly1114Ser) c.2914G>A (p.Gly972Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541766A>C | CA421930604 | F5 | c.3324T>G (p.Thr1108=) c.3339T>G (p.Thr1113=) c.2913T>G (p.Thr971=) | |
| 1 | g.169541766A>G | CA421930605 | F5 | c.3324T>C (p.Thr1108=) c.3339T>C (p.Thr1113=) c.2913T>C (p.Thr971=) | |
| 1 | g.169541766A>T | CA421930606 | F5 | c.3324T>A (p.Thr1108=) c.3339T>A (p.Thr1113=) c.2913T>A (p.Thr971=) | |
| 1 | g.169541767G>A | CA343118521 | F5 | c.3323C>T (p.Thr1108Ile) c.3338C>T (p.Thr1113Ile) c.2912C>T (p.Thr971Ile) | gnomAD v4 |
| 1 | g.169541767G>C | CA343118522 | F5 | c.3323C>G (p.Thr1108Ser) c.3338C>G (p.Thr1113Ser) c.2912C>G (p.Thr971Ser) | |
| 1 | g.169541767G= | CA1206132436 | F5 | c.3323C= (p.Thr1108=) c.3338C= (p.Thr1113=) c.2912C= (p.Thr971=) | |
| 1 | g.169541767G>T | CA343118523 | F5 | c.3323C>A (p.Thr1108Asn) c.3338C>A (p.Thr1113Asn) c.2912C>A (p.Thr971Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541768del | CA2697554642 | F5 | c.3322del (p.Thr1108LeufsTer?) c.3337del (p.Thr1113LeufsTer?) c.2911del (p.Thr971LeufsTer?) | ClinVar |
| 1 | g.169541768T>A | CA343118524 | F5 | c.3322A>T (p.Thr1108Ser) c.3337A>T (p.Thr1113Ser) c.2911A>T (p.Thr971Ser) | |
| 1 | g.169541768T>C | CA343118525 | F5 | c.3322A>G (p.Thr1108Ala) c.3337A>G (p.Thr1113Ala) c.2911A>G (p.Thr971Ala) | |
| 1 | g.169541768T>G | CA343118527 | F5 | c.3322A>C (p.Thr1108Pro) c.3337A>C (p.Thr1113Pro) c.2911A>C (p.Thr971Pro) | |
| 1 | g.169541769G>A | CA421930610 | F5 | c.3321C>T (p.Asp1107=) c.3336C>T (p.Asp1112=) c.2910C>T (p.Asp970=) | |
| 1 | g.169541769G>C | CA343118529 | F5 | c.3321C>G (p.Asp1107Glu) c.3336C>G (p.Asp1112Glu) c.2910C>G (p.Asp970Glu) | gnomAD v4 |
| 1 | g.169541769G>T | CA343118533 | F5 | c.3321C>A (p.Asp1107Glu) c.3336C>A (p.Asp1112Glu) c.2910C>A (p.Asp970Glu) | |
| 1 | g.169541770T>A | CA343118535 | F5 | c.3320A>T (p.Asp1107Val) c.3335A>T (p.Asp1112Val) c.2909A>T (p.Asp970Val) | |
| 1 | g.169541770T>C | CA343118537 | F5 | c.3320A>G (p.Asp1107Gly) c.3335A>G (p.Asp1112Gly) c.2909A>G (p.Asp970Gly) | |
| 1 | g.169541770T>G | CA343118538 | F5 | c.3320A>C (p.Asp1107Ala) c.3335A>C (p.Asp1112Ala) c.2909A>C (p.Asp970Ala) | |
| 1 | g.169541771C>A | CA343118548 | F5 | c.3319G>T (p.Asp1107Tyr) c.3334G>T (p.Asp1112Tyr) c.2908G>T (p.Asp970Tyr) | |
| 1 | g.169541771C= | CA1206132438 | F5 | c.3319G= (p.Asp1107=) c.3334G= (p.Asp1112=) c.2908G= (p.Asp970=) | |
| 1 | g.169541771C>G | CA1233932 | F5 | c.3319G>C (p.Asp1107His) c.3334G>C (p.Asp1112His) c.2908G>C (p.Asp970His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541771C>T | CA343118540 | F5 | c.3319G>A (p.Asp1107Asn) c.3334G>A (p.Asp1112Asn) c.2908G>A (p.Asp970Asn) | |
| 1 | g.169541772A>C | CA343118550 | F5 | c.3318T>G (p.Asn1106Lys) c.3333T>G (p.Asn1111Lys) c.2907T>G (p.Asn969Lys) | |
| 1 | g.169541772A>G | CA421930614 | F5 | c.3318T>C (p.Asn1106=) c.3333T>C (p.Asn1111=) c.2907T>C (p.Asn969=) | gnomAD v4 |
| 1 | g.169541772A>T | CA343118552 | F5 | c.3318T>A (p.Asn1106Lys) c.3333T>A (p.Asn1111Lys) c.2907T>A (p.Asn969Lys) | |
| 1 | g.169541773T>A | CA343118554 | F5 | c.3317A>T (p.Asn1106Ile) c.3332A>T (p.Asn1111Ile) c.2906A>T (p.Asn969Ile) | |
| 1 | g.169541773T>C | CA343118555 | F5 | c.3317A>G (p.Asn1106Ser) c.3332A>G (p.Asn1111Ser) c.2906A>G (p.Asn969Ser) | gnomAD v4 |
| 1 | g.169541773T>G | CA343118557 | F5 | c.3317A>C (p.Asn1106Thr) c.3332A>C (p.Asn1111Thr) c.2906A>C (p.Asn969Thr) | |
| 1 | g.169541774T>A | CA343118558 | F5 | c.3316A>T (p.Asn1106Tyr) c.3331A>T (p.Asn1111Tyr) c.2905A>T (p.Asn969Tyr) | |
| 1 | g.169541774T>C | CA343118560 | F5 | c.3316A>G (p.Asn1106Asp) c.3331A>G (p.Asn1111Asp) c.2905A>G (p.Asn969Asp) | gnomAD v4 |
| 1 | g.169541774T>G | CA343118561 | F5 | c.3316A>C (p.Asn1106His) c.3331A>C (p.Asn1111His) c.2905A>C (p.Asn969His) | |
| 1 | g.169541775T>A | CA421930616 | F5 | c.3315A>T (p.Ser1105=) c.3330A>T (p.Ser1110=) c.2904A>T (p.Ser968=) | |
| 1 | g.169541775T>C | CA421930618 | F5 | c.3315A>G (p.Ser1105=) c.3330A>G (p.Ser1110=) c.2904A>G (p.Ser968=) | |
| 1 | g.169541775T>G | CA421930617 | F5 | c.3315A>C (p.Ser1105=) c.3330A>C (p.Ser1110=) c.2904A>C (p.Ser968=) | |
| 1 | g.169541776G>A | CA343118563 | F5 | c.3314C>T (p.Ser1105Leu) c.3329C>T (p.Ser1110Leu) c.2903C>T (p.Ser968Leu) | |
| 1 | g.169541776G>C | CA343118564 | F5 | c.3314C>G (p.Ser1105Ter) c.3329C>G (p.Ser1110Ter) c.2903C>G (p.Ser968Ter) | |
| 1 | g.169541776G>T | CA343118566 | F5 | c.3314C>A (p.Ser1105Ter) c.3329C>A (p.Ser1110Ter) c.2903C>A (p.Ser968Ter) | |
| 1 | g.169541777A>C | CA343118572 | F5 | c.3313T>G (p.Ser1105Ala) c.3328T>G (p.Ser1110Ala) c.2902T>G (p.Ser968Ala) | |
| 1 | g.169541777A>G | CA343118570 | F5 | c.3313T>C (p.Ser1105Pro) c.3328T>C (p.Ser1110Pro) c.2902T>C (p.Ser968Pro) | |
| 1 | g.169541777A>T | CA343118568 | F5 | c.3313T>A (p.Ser1105Thr) c.3328T>A (p.Ser1110Thr) c.2902T>A (p.Ser968Thr) | |
| 1 | g.169541778G>A | CA421930624 | F5 | c.3312C>T (p.Ser1104=) c.3327C>T (p.Ser1109=) c.2901C>T (p.Ser967=) | ClinVar |
| 1 | g.169541778G>C | CA421930623 | F5 | c.3312C>G (p.Ser1104=) c.3327C>G (p.Ser1109=) c.2901C>G (p.Ser967=) | |
| 1 | g.169541778G>T | CA421930621 | F5 | c.3312C>A (p.Ser1104=) c.3327C>A (p.Ser1109=) c.2901C>A (p.Ser967=) | |
| 1 | g.169541779G>A | CA343118573 | F5 | c.3311C>T (p.Ser1104Phe) c.3326C>T (p.Ser1109Phe) c.2900C>T (p.Ser967Phe) | |
| 1 | g.169541779G>C | CA343118578 | F5 | c.3311C>G (p.Ser1104Cys) c.3326C>G (p.Ser1109Cys) c.2900C>G (p.Ser967Cys) | |
| 1 | g.169541779G= | CA1143028787 | F5 | c.3311C= (p.Ser1104=) c.3326C= (p.Ser1109=) c.2900C= (p.Ser967=) | |
| 1 | g.169541779G>T | CA1233933 | F5 | c.3311C>A (p.Ser1104Tyr) c.3326C>A (p.Ser1109Tyr) c.2900C>A (p.Ser967Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541780A>C | CA343118580 | F5 | c.3310T>G (p.Ser1104Ala) c.3325T>G (p.Ser1109Ala) c.2899T>G (p.Ser967Ala) | |
| 1 | g.169541780A>G | CA343118582 | F5 | c.3310T>C (p.Ser1104Pro) c.3325T>C (p.Ser1109Pro) c.2899T>C (p.Ser967Pro) | |
| 1 | g.169541780A>T | CA343118583 | F5 | c.3310T>A (p.Ser1104Thr) c.3325T>A (p.Ser1109Thr) c.2899T>A (p.Ser967Thr) | |
| 1 | g.169541781A>C | CA343118586 | F5 | c.3309T>G (p.Asn1103Lys) c.3324T>G (p.Asn1108Lys) c.2898T>G (p.Asn966Lys) | |
| 1 | g.169541781A>G | CA421930627 | F5 | c.3309T>C (p.Asn1103=) c.3324T>C (p.Asn1108=) c.2898T>C (p.Asn966=) | |
| 1 | g.169541781A>T | CA343118588 | F5 | c.3309T>A (p.Asn1103Lys) c.3324T>A (p.Asn1108Lys) c.2898T>A (p.Asn966Lys) | |
| 1 | g.169541782T>A | CA343118589 | F5 | c.3308A>T (p.Asn1103Ile) c.3323A>T (p.Asn1108Ile) c.2897A>T (p.Asn966Ile) | |
| 1 | g.169541782T>C | CA343118590 | F5 | c.3308A>G (p.Asn1103Ser) c.3323A>G (p.Asn1108Ser) c.2897A>G (p.Asn966Ser) | COSMIC |
| 1 | g.169541782T>G | CA343118592 | F5 | c.3308A>C (p.Asn1103Thr) c.3323A>C (p.Asn1108Thr) c.2897A>C (p.Asn966Thr) | |
| 1 | g.169541783T>A | CA10608312 | F5 | c.3307A>T (p.Asn1103Tyr) c.3322A>T (p.Asn1108Tyr) c.2896A>T (p.Asn966Tyr) | ClinVar dbSNP |
| 1 | g.169541783T>C | CA343118594 | F5 | c.3307A>G (p.Asn1103Asp) c.3322A>G (p.Asn1108Asp) c.2896A>G (p.Asn966Asp) | gnomAD v4 |
| 1 | g.169541783T>G | CA343118602 | F5 | c.3307A>C (p.Asn1103His) c.3322A>C (p.Asn1108His) c.2896A>C (p.Asn966His) | |
| 1 | g.169541783T= | CA1206132444 | F5 | c.3307A= (p.Asn1103=) c.3322A= (p.Asn1108=) c.2896A= (p.Asn966=) | |
| 1 | g.169541784C>A | CA343118605 | F5 | c.3306G>T (p.Gln1102His) c.3321G>T (p.Gln1107His) c.2895G>T (p.Gln965His) | gnomAD v4 |
| 1 | g.169541784C>G | CA343118606 | F5 | c.3306G>C (p.Gln1102His) c.3321G>C (p.Gln1107His) c.2895G>C (p.Gln965His) | |
| 1 | g.169541784C>T | CA421930632 | F5 | c.3306G>A (p.Gln1102=) c.3321G>A (p.Gln1107=) c.2895G>A (p.Gln965=) | |
| 1 | g.169541785T>A | CA343118609 | F5 | c.3305A>T (p.Gln1102Leu) c.3320A>T (p.Gln1107Leu) c.2894A>T (p.Gln965Leu) | |
| 1 | g.169541785T>C | CA343118610 | F5 | c.3305A>G (p.Gln1102Arg) c.3320A>G (p.Gln1107Arg) c.2894A>G (p.Gln965Arg) | |
| 1 | g.169541785T>G | CA343118612 | F5 | c.3305A>C (p.Gln1102Pro) c.3320A>C (p.Gln1107Pro) c.2894A>C (p.Gln965Pro) | |
| 1 | g.169541786G>A | CA343118614 | F5 | c.3304C>T (p.Gln1102Ter) c.3319C>T (p.Gln1107Ter) c.2893C>T (p.Gln965Ter) | |
| 1 | g.169541786G>C | CA343118616 | F5 | c.3304C>G (p.Gln1102Glu) c.3319C>G (p.Gln1107Glu) c.2893C>G (p.Gln965Glu) | |
| 1 | g.169541786G>T | CA343118618 | F5 | c.3304C>A (p.Gln1102Lys) c.3319C>A (p.Gln1107Lys) c.2893C>A (p.Gln965Lys) | |
| 1 | g.169541787A>C | CA343118620 | F5 | c.3303T>G (p.Asn1101Lys) c.3318T>G (p.Asn1106Lys) c.2892T>G (p.Asn964Lys) | |
| 1 | g.169541787A>G | CA421930637 | F5 | c.3303T>C (p.Asn1101=) c.3318T>C (p.Asn1106=) c.2892T>C (p.Asn964=) | |
| 1 | g.169541787A>T | CA343118622 | F5 | c.3303T>A (p.Asn1101Lys) c.3318T>A (p.Asn1106Lys) c.2892T>A (p.Asn964Lys) | gnomAD v4 |
| 1 | g.169541788T>A | CA343118624 | F5 | c.3302A>T (p.Asn1101Ile) c.3317A>T (p.Asn1106Ile) c.2891A>T (p.Asn964Ile) | |
| 1 | g.169541788T>C | CA343118626 | F5 | c.3302A>G (p.Asn1101Ser) c.3317A>G (p.Asn1106Ser) c.2891A>G (p.Asn964Ser) | |
| 1 | g.169541788T>G | CA343118628 | F5 | c.3302A>C (p.Asn1101Thr) c.3317A>C (p.Asn1106Thr) c.2891A>C (p.Asn964Thr) | |
| 1 | g.169541789T>A | CA343118634 | F5 | c.3301A>T (p.Asn1101Tyr) c.3316A>T (p.Asn1106Tyr) c.2890A>T (p.Asn964Tyr) | ClinVar gnomAD v4 |
| 1 | g.169541789T>C | CA343118632 | F5 | c.3301A>G (p.Asn1101Asp) c.3316A>G (p.Asn1106Asp) c.2890A>G (p.Asn964Asp) | |
| 1 | g.169541789T>G | CA343118630 | F5 | c.3301A>C (p.Asn1101His) c.3316A>C (p.Asn1106His) c.2890A>C (p.Asn964His) | |
| 1 | g.169541790A>C | CA343118635 | F5 | c.3300T>G (p.His1100Gln) c.3315T>G (p.His1105Gln) c.2889T>G (p.His963Gln) | |
| 1 | g.169541790A>G | CA421930640 | F5 | c.3300T>C (p.His1100=) c.3315T>C (p.His1105=) c.2889T>C (p.His963=) | |
| 1 | g.169541790A>T | CA343118636 | F5 | c.3300T>A (p.His1100Gln) c.3315T>A (p.His1105Gln) c.2889T>A (p.His963Gln) | |
| 1 | g.169541791T>A | CA343118639 | F5 | c.3299A>T (p.His1100Leu) c.3314A>T (p.His1105Leu) c.2888A>T (p.His963Leu) | |
| 1 | g.169541791T>C | CA1233934 | F5 | c.3299A>G (p.His1100Arg) c.3314A>G (p.His1105Arg) c.2888A>G (p.His963Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541791T>G | CA343118641 | F5 | c.3299A>C (p.His1100Pro) c.3314A>C (p.His1105Pro) c.2888A>C (p.His963Pro) | |
| 1 | g.169541791T= | CA1206132450 | F5 | c.3299A= (p.His1100=) c.3314A= (p.His1105=) c.2888A= (p.His963=) | |
| 1 | g.169541792G>A | CA343118643 | F5 | c.3298C>T (p.His1100Tyr) c.3313C>T (p.His1105Tyr) c.2887C>T (p.His963Tyr) | |
| 1 | g.169541792G>C | CA343118645 | F5 | c.3298C>G (p.His1100Asp) c.3313C>G (p.His1105Asp) c.2887C>G (p.His963Asp) | |
| 1 | g.169541792G>T | CA343118646 | F5 | c.3298C>A (p.His1100Asn) c.3313C>A (p.His1105Asn) c.2887C>A (p.His963Asn) | gnomAD v4 |
| 1 | g.169541793G>A | CA421930643 | F5 | c.3297C>T (p.Asp1099=) c.3312C>T (p.Asp1104=) c.2886C>T (p.Asp962=) | |
| 1 | g.169541793G>C | CA343118648 | F5 | c.3297C>G (p.Asp1099Glu) c.3312C>G (p.Asp1104Glu) c.2886C>G (p.Asp962Glu) | |
| 1 | g.169541793G>T | CA343118650 | F5 | c.3297C>A (p.Asp1099Glu) c.3312C>A (p.Asp1104Glu) c.2886C>A (p.Asp962Glu) | |
| 1 | g.169541794del | CA2586964380 | F5 | c.3296del (p.Asp1099AlafsTer?) c.3311del (p.Asp1104AlafsTer?) c.2885del (p.Asp962AlafsTer?) | |
| 1 | g.169541794T>A | CA343118652 | F5 | c.3296A>T (p.Asp1099Val) c.3311A>T (p.Asp1104Val) c.2885A>T (p.Asp962Val) | |
| 1 | g.169541794T>C | CA343118654 | F5 | c.3296A>G (p.Asp1099Gly) c.3311A>G (p.Asp1104Gly) c.2885A>G (p.Asp962Gly) | |
| 1 | g.169541794T>G | CA343118655 | F5 | c.3296A>C (p.Asp1099Ala) c.3311A>C (p.Asp1104Ala) c.2885A>C (p.Asp962Ala) | |
| 1 | g.169541795C>A | CA343118661 | F5 | c.3295G>T (p.Asp1099Tyr) c.3310G>T (p.Asp1104Tyr) c.2884G>T (p.Asp962Tyr) | |
| 1 | g.169541795C>G | CA343118659 | F5 | c.3295G>C (p.Asp1099His) c.3310G>C (p.Asp1104His) c.2884G>C (p.Asp962His) | |
| 1 | g.169541795C>T | CA343118658 | F5 | c.3295G>A (p.Asp1099Asn) c.3310G>A (p.Asp1104Asn) c.2884G>A (p.Asp962Asn) | |
| 1 | g.169541796A>C | CA421930645 | F5 | c.3294T>G (p.Pro1098=) c.3309T>G (p.Pro1103=) c.2883T>G (p.Pro961=) | |
| 1 | g.169541796A>G | CA421930647 | F5 | c.3294T>C (p.Pro1098=) c.3309T>C (p.Pro1103=) c.2883T>C (p.Pro961=) | |
| 1 | g.169541796A>T | CA421930646 | F5 | c.3294T>A (p.Pro1098=) c.3309T>A (p.Pro1103=) c.2883T>A (p.Pro961=) | |
| 1 | g.169541797G>A | CA343118663 | F5 | c.3293C>T (p.Pro1098Leu) c.3308C>T (p.Pro1103Leu) c.2882C>T (p.Pro961Leu) | |
| 1 | g.169541797G>C | CA343118665 | F5 | c.3293C>G (p.Pro1098Arg) c.3308C>G (p.Pro1103Arg) c.2882C>G (p.Pro961Arg) | |
| 1 | g.169541797G>T | CA343118666 | F5 | c.3293C>A (p.Pro1098His) c.3308C>A (p.Pro1103His) c.2882C>A (p.Pro961His) | gnomAD v4 |
| 1 | g.169541798G>A | CA343118668 | F5 | c.3292C>T (p.Pro1098Ser) c.3307C>T (p.Pro1103Ser) c.2881C>T (p.Pro961Ser) | COSMIC |
| 1 | g.169541798G>C | CA343118670 | F5 | c.3292C>G (p.Pro1098Ala) c.3307C>G (p.Pro1103Ala) c.2881C>G (p.Pro961Ala) | |
| 1 | g.169541798G= | CA1206132452 | F5 | c.3292C= (p.Pro1098=) c.3307C= (p.Pro1103=) c.2881C= (p.Pro961=) | |
| 1 | g.169541798G>T | CA343118672 | F5 | c.3292C>A (p.Pro1098Thr) c.3307C>A (p.Pro1103Thr) c.2881C>A (p.Pro961Thr) | dbSNP gnomAD v2 |
| 1 | g.169541799A>C | CA421930651 | F5 | c.3291T>G (p.Leu1097=) c.3306T>G (p.Leu1102=) c.2880T>G (p.Leu960=) | |
| 1 | g.169541799A>G | CA421930652 | F5 | c.3291T>C (p.Leu1097=) c.3306T>C (p.Leu1102=) c.2880T>C (p.Leu960=) | |
| 1 | g.169541799A>T | CA421930653 | F5 | c.3291T>A (p.Leu1097=) c.3306T>A (p.Leu1102=) c.2880T>A (p.Leu960=) | |
| 1 | g.169541800A>C | CA343118674 | F5 | c.3290T>G (p.Leu1097Arg) c.3305T>G (p.Leu1102Arg) c.2879T>G (p.Leu960Arg) | |
| 1 | g.169541800A>G | CA343118676 | F5 | c.3290T>C (p.Leu1097Pro) c.3305T>C (p.Leu1102Pro) c.2879T>C (p.Leu960Pro) | |
| 1 | g.169541800A>T | CA343118678 | F5 | c.3290T>A (p.Leu1097His) c.3305T>A (p.Leu1102His) c.2879T>A (p.Leu960His) | |
| 1 | g.169541801G>A | CA343118680 | F5 | c.3289C>T (p.Leu1097Phe) c.3304C>T (p.Leu1102Phe) c.2878C>T (p.Leu960Phe) | |
| 1 | g.169541801G>C | CA343118682 | F5 | c.3289C>G (p.Leu1097Val) c.3304C>G (p.Leu1102Val) c.2878C>G (p.Leu960Val) | |
| 1 | g.169541801G>T | CA343118684 | F5 | c.3289C>A (p.Leu1097Ile) c.3304C>A (p.Leu1102Ile) c.2878C>A (p.Leu960Ile) | |
| 1 | g.169541802T>A | CA421930658 | F5 | c.3288A>T (p.Ser1096=) c.3303A>T (p.Ser1101=) c.2877A>T (p.Ser959=) | |
| 1 | g.169541802T>C | CA421930660 | F5 | c.3288A>G (p.Ser1096=) c.3303A>G (p.Ser1101=) c.2877A>G (p.Ser959=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541802T>G | CA421930659 | F5 | c.3288A>C (p.Ser1096=) c.3303A>C (p.Ser1101=) c.2877A>C (p.Ser959=) | |
| 1 | g.169541802T= | CA1206132454 | F5 | c.3288A= (p.Ser1096=) c.3303A= (p.Ser1101=) c.2877A= (p.Ser959=) | |
| 1 | g.169541803G>A | CA343118688 | F5 | c.3287C>T (p.Ser1096Leu) c.3302C>T (p.Ser1101Leu) c.2876C>T (p.Ser959Leu) | gnomAD v4 |
| 1 | g.169541803G>C | CA343118690 | F5 | c.3287C>G (p.Ser1096Ter) c.3302C>G (p.Ser1101Ter) c.2876C>G (p.Ser959Ter) | |
| 1 | g.169541803G>T | CA343118686 | F5 | c.3287C>A (p.Ser1096Ter) c.3302C>A (p.Ser1101Ter) c.2876C>A (p.Ser959Ter) | |
| 1 | g.169541804A>C | CA343118691 | F5 | c.3286T>G (p.Ser1096Ala) c.3301T>G (p.Ser1101Ala) c.2875T>G (p.Ser959Ala) | |
| 1 | g.169541804A>G | CA343118693 | F5 | c.3286T>C (p.Ser1096Pro) c.3301T>C (p.Ser1101Pro) c.2875T>C (p.Ser959Pro) | |
| 1 | g.169541804A>T | CA343118695 | F5 | c.3286T>A (p.Ser1096Thr) c.3301T>A (p.Ser1101Thr) c.2875T>A (p.Ser959Thr) | |
| 1 | g.169541805G>A | CA421930662 | F5 | c.3285C>T (p.Ala1095=) c.3300C>T (p.Ala1100=) c.2874C>T (p.Ala958=) | |
| 1 | g.169541805G>C | CA421930663 | F5 | c.3285C>G (p.Ala1095=) c.3300C>G (p.Ala1100=) c.2874C>G (p.Ala958=) | |
| 1 | g.169541805G>T | CA421930664 | F5 | c.3285C>A (p.Ala1095=) c.3300C>A (p.Ala1100=) c.2874C>A (p.Ala958=) | |
| 1 | g.169541806G>A | CA343118697 | F5 | c.3284C>T (p.Ala1095Val) c.3299C>T (p.Ala1100Val) c.2873C>T (p.Ala958Val) | |
| 1 | g.169541806G>C | CA343118698 | F5 | c.3284C>G (p.Ala1095Gly) c.3299C>G (p.Ala1100Gly) c.2873C>G (p.Ala958Gly) | gnomAD v4 |
| 1 | g.169541806G>T | CA343118700 | F5 | c.3284C>A (p.Ala1095Asp) c.3299C>A (p.Ala1100Asp) c.2873C>A (p.Ala958Asp) | |
| 1 | g.169541807C>A | CA343118702 | F5 | c.3283G>T (p.Ala1095Ser) c.3298G>T (p.Ala1100Ser) c.2872G>T (p.Ala958Ser) | |
| 1 | g.169541807C= | CA1206132457 | F5 | c.3283G= (p.Ala1095=) c.3298G= (p.Ala1100=) c.2872G= (p.Ala958=) | |
| 1 | g.169541807C>G | CA343118704 | F5 | c.3283G>C (p.Ala1095Pro) c.3298G>C (p.Ala1100Pro) c.2872G>C (p.Ala958Pro) | |
| 1 | g.169541807C>T | CA343118705 | F5 | c.3283G>A (p.Ala1095Thr) c.3298G>A (p.Ala1100Thr) c.2872G>A (p.Ala958Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541808T>A | CA421930666 | F5 | c.3282A>T (p.Ile1094=) c.3297A>T (p.Ile1099=) c.2871A>T (p.Ile957=) | |
| 1 | g.169541808T>C | CA343118706 | F5 | c.3282A>G (p.Ile1094Met) c.3297A>G (p.Ile1099Met) c.2871A>G (p.Ile957Met) | |
| 1 | g.169541808T>G | CA421930667 | F5 | c.3282A>C (p.Ile1094=) c.3297A>C (p.Ile1099=) c.2871A>C (p.Ile957=) | |
| 1 | g.169541809A>C | CA343118708 | F5 | c.3281T>G (p.Ile1094Arg) c.3296T>G (p.Ile1099Arg) c.2870T>G (p.Ile957Arg) | |
| 1 | g.169541809A>G | CA343118709 | F5 | c.3281T>C (p.Ile1094Thr) c.3296T>C (p.Ile1099Thr) c.2870T>C (p.Ile957Thr) | |
| 1 | g.169541809A>T | CA343118711 | F5 | c.3281T>A (p.Ile1094Lys) c.3296T>A (p.Ile1099Lys) c.2870T>A (p.Ile957Lys) | |
| 1 | g.169541810T>A | CA343118717 | F5 | c.3280A>T (p.Ile1094Leu) c.3295A>T (p.Ile1099Leu) c.2869A>T (p.Ile957Leu) | |
| 1 | g.169541810T>C | CA343118715 | F5 | c.3280A>G (p.Ile1094Val) c.3295A>G (p.Ile1099Val) c.2869A>G (p.Ile957Val) | |
| 1 | g.169541810T>G | CA1233935 | F5 | c.3280A>C (p.Ile1094Leu) c.3295A>C (p.Ile1099Leu) c.2869A>C (p.Ile957Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541810T= | CA1148392661 | F5 | c.3280A= (p.Ile1094=) c.3295A= (p.Ile1099=) c.2869A= (p.Ile957=) | |
| 1 | g.169541811C>A | CA343118719 | F5 | c.3279G>T (p.Trp1093Cys) c.3294G>T (p.Trp1098Cys) c.2868G>T (p.Trp956Cys) | gnomAD v4 |
| 1 | g.169541811C>G | CA343118721 | F5 | c.3279G>C (p.Trp1093Cys) c.3294G>C (p.Trp1098Cys) c.2868G>C (p.Trp956Cys) | |
| 1 | g.169541811C>T | CA343118722 | F5 | c.3279G>A (p.Trp1093Ter) c.3294G>A (p.Trp1098Ter) c.2868G>A (p.Trp956Ter) | |
| 1 | g.169541812C>A | CA343118724 | F5 | c.3278G>T (p.Trp1093Leu) c.3293G>T (p.Trp1098Leu) c.2867G>T (p.Trp956Leu) | |
| 1 | g.169541812C>G | CA343118726 | F5 | c.3278G>C (p.Trp1093Ser) c.3293G>C (p.Trp1098Ser) c.2867G>C (p.Trp956Ser) | |
| 1 | g.169541812C>T | CA343118728 | F5 | c.3278G>A (p.Trp1093Ter) c.3293G>A (p.Trp1098Ter) c.2867G>A (p.Trp956Ter) | |
| 1 | g.169541813A= | CA1206132460 | F5 | c.3277T= (p.Trp1093=) c.3292T= (p.Trp1098=) c.2866T= (p.Trp956=) | |
| 1 | g.169541813A>C | CA343118730 | F5 | c.3277T>G (p.Trp1093Gly) c.3292T>G (p.Trp1098Gly) c.2866T>G (p.Trp956Gly) | |
| 1 | g.169541813A>G | CA343118732 | F5 | c.3277T>C (p.Trp1093Arg) c.3292T>C (p.Trp1098Arg) c.2866T>C (p.Trp956Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541813A>T | CA343118734 | F5 | c.3277T>A (p.Trp1093Arg) c.3292T>A (p.Trp1098Arg) c.2866T>A (p.Trp956Arg) | |
| 1 | g.169541814G>A | CA421930677 | F5 | c.3276C>T (p.Gly1092=) c.3291C>T (p.Gly1097=) c.2865C>T (p.Gly955=) | |
| 1 | g.169541814G>C | CA421930678 | F5 | c.3276C>G (p.Gly1092=) c.3291C>G (p.Gly1097=) c.2865C>G (p.Gly955=) | |
| 1 | g.169541814G>T | CA421930679 | F5 | c.3276C>A (p.Gly1092=) c.3291C>A (p.Gly1097=) c.2865C>A (p.Gly955=) | |
| 1 | g.169541815C>A | CA343118736 | F5 | c.3275G>T (p.Gly1092Val) c.3290G>T (p.Gly1097Val) c.2864G>T (p.Gly955Val) | dbSNP gnomAD v4 |
| 1 | g.169541815C= | CA1206132462 | F5 | c.3275G= (p.Gly1092=) c.3290G= (p.Gly1097=) c.2864G= (p.Gly955=) | |
| 1 | g.169541815C>G | CA343118737 | F5 | c.3275G>C (p.Gly1092Ala) c.3290G>C (p.Gly1097Ala) c.2864G>C (p.Gly955Ala) | |
| 1 | g.169541815C>T | CA343118739 | F5 | c.3275G>A (p.Gly1092Asp) c.3290G>A (p.Gly1097Asp) c.2864G>A (p.Gly955Asp) | |
| 1 | g.169541816C>A | CA343118744 | F5 | c.3274G>T (p.Gly1092Cys) c.3289G>T (p.Gly1097Cys) c.2863G>T (p.Gly955Cys) | |
| 1 | g.169541816C>G | CA343118742 | F5 | c.3274G>C (p.Gly1092Arg) c.3289G>C (p.Gly1097Arg) c.2863G>C (p.Gly955Arg) | |
| 1 | g.169541816C>T | CA343118741 | F5 | c.3274G>A (p.Gly1092Ser) c.3289G>A (p.Gly1097Ser) c.2863G>A (p.Gly955Ser) | |
| 1 | g.169541817A= | CA1206132463 | F5 | c.3273T= (p.Phe1091=) c.3288T= (p.Phe1096=) c.2862T= (p.Phe954=) | |
| 1 | g.169541817A>C | CA343118746 | F5 | c.3273T>G (p.Phe1091Leu) c.3288T>G (p.Phe1096Leu) c.2862T>G (p.Phe954Leu) | dbSNP |
| 1 | g.169541817A>G | CA421930683 | F5 | c.3273T>C (p.Phe1091=) c.3288T>C (p.Phe1096=) c.2862T>C (p.Phe954=) | gnomAD v4 |
| 1 | g.169541817A>T | CA343118748 | F5 | c.3273T>A (p.Phe1091Leu) c.3288T>A (p.Phe1096Leu) c.2862T>A (p.Phe954Leu) | |
| 1 | g.169541818A>C | CA343118750 | F5 | c.3272T>G (p.Phe1091Cys) c.3287T>G (p.Phe1096Cys) c.2861T>G (p.Phe954Cys) | |
| 1 | g.169541818A>G | CA343118751 | F5 | c.3272T>C (p.Phe1091Ser) c.3287T>C (p.Phe1096Ser) c.2861T>C (p.Phe954Ser) | |
| 1 | g.169541818A>T | CA343118753 | F5 | c.3272T>A (p.Phe1091Tyr) c.3287T>A (p.Phe1096Tyr) c.2861T>A (p.Phe954Tyr) | |
| 1 | g.169541819A= | CA1206132464 | F5 | c.3271T= (p.Phe1091=) c.3286T= (p.Phe1096=) c.2860T= (p.Phe954=) | |
| 1 | g.169541819A>C | CA343118755 | F5 | c.3271T>G (p.Phe1091Val) c.3286T>G (p.Phe1096Val) c.2860T>G (p.Phe954Val) | |
| 1 | g.169541819A>G | CA343118757 | F5 | c.3271T>C (p.Phe1091Leu) c.3286T>C (p.Phe1096Leu) c.2860T>C (p.Phe954Leu) | |
| 1 | g.169541819A>T | CA1233936 | F5 | c.3271T>A (p.Phe1091Ile) c.3286T>A (p.Phe1096Ile) c.2860T>A (p.Phe954Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.169541819_169541820insC | CA2746577668 | F5 | c.3270_3271insG (p.Phe1091ValfsTer9) c.3285_3286insG (p.Phe1096ValfsTer9) c.2859_2860insG (p.Phe954ValfsTer9) | |
| 1 | g.169541819_169541820insCACACCCAACAC | CA2746577669 | F5 | c.3270_3271insGTGTTGGGTGTG (p.Asp1090_Phe1091insValLeuGlyVal) c.3285_3286insGTGTTGGGTGTG (p.Asp1095_Phe1096insValLeuGlyVal) c.2859_2860insGTGTTGGGTGTG (p.Asp953_Phe954insValLeuGlyVal) | |
| 1 | g.169541820A>C | CA343118761 | F5 | c.3270T>G (p.Asp1090Glu) c.3285T>G (p.Asp1095Glu) c.2859T>G (p.Asp953Glu) | |
| 1 | g.169541820A>G | CA421930687 | F5 | c.3270T>C (p.Asp1090=) c.3285T>C (p.Asp1095=) c.2859T>C (p.Asp953=) | |
| 1 | g.169541820A>T | CA343118759 | F5 | c.3270T>A (p.Asp1090Glu) c.3285T>A (p.Asp1095Glu) c.2859T>A (p.Asp953Glu) | gnomAD v4 |
| 1 | g.169541821T>A | CA343118763 | F5 | c.3269A>T (p.Asp1090Val) c.3284A>T (p.Asp1095Val) c.2858A>T (p.Asp953Val) | |
| 1 | g.169541821T>C | CA343118764 | F5 | c.3269A>G (p.Asp1090Gly) c.3284A>G (p.Asp1095Gly) c.2858A>G (p.Asp953Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541821T>G | CA343118766 | F5 | c.3269A>C (p.Asp1090Ala) c.3284A>C (p.Asp1095Ala) c.2858A>C (p.Asp953Ala) | |
| 1 | g.169541821T= | CA1206132467 | F5 | c.3269A= (p.Asp1090=) c.3284A= (p.Asp1095=) c.2858A= (p.Asp953=) | |
| 1 | g.169541822C>A | CA343118768 | F5 | c.3268G>T (p.Asp1090Tyr) c.3283G>T (p.Asp1095Tyr) c.2857G>T (p.Asp953Tyr) | |
| 1 | g.169541822C>G | CA343118769 | F5 | c.3268G>C (p.Asp1090His) c.3283G>C (p.Asp1095His) c.2857G>C (p.Asp953His) | |
| 1 | g.169541822C>T | CA343118770 | F5 | c.3268G>A (p.Asp1090Asn) c.3283G>A (p.Asp1095Asn) c.2857G>A (p.Asp953Asn) | gnomAD v4 |
| 1 | g.169541823C>A | CA343118775 | F5 | c.3267G>T (p.Met1089Ile) c.3282G>T (p.Met1094Ile) c.2856G>T (p.Met952Ile) | |
| 1 | g.169541823C>G | CA343118772 | F5 | c.3267G>C (p.Met1089Ile) c.3282G>C (p.Met1094Ile) c.2856G>C (p.Met952Ile) | |
| 1 | g.169541823C>T | CA343118773 | F5 | c.3267G>A (p.Met1089Ile) c.3282G>A (p.Met1094Ile) c.2856G>A (p.Met952Ile) | gnomAD v4 |
| 1 | g.169541824A= | CA1206132468 | F5 | c.3266T= (p.Met1089=) c.3281T= (p.Met1094=) c.2855T= (p.Met952=) | |
| 1 | g.169541824A>C | CA343118777 | F5 | c.3266T>G (p.Met1089Arg) c.3281T>G (p.Met1094Arg) c.2855T>G (p.Met952Arg) | |
| 1 | g.169541824A>G | CA343118779 | F5 | c.3266T>C (p.Met1089Thr) c.3281T>C (p.Met1094Thr) c.2855T>C (p.Met952Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541824A>T | CA343118780 | F5 | c.3266T>A (p.Met1089Lys) c.3281T>A (p.Met1094Lys) c.2855T>A (p.Met952Lys) | |
| 1 | g.169541825_169541826del | CA2649035357 | F5 | c.3265_3266del (p.Met1089GlyfsTer10) c.3280_3281del (p.Met1094GlyfsTer10) c.2854_2855del (p.Met952GlyfsTer10) | gnomAD v4 |
| 1 | g.169541825T>A | CA343118782 | F5 | c.3265A>T (p.Met1089Leu) c.3280A>T (p.Met1094Leu) c.2854A>T (p.Met952Leu) | |
| 1 | g.169541825T>C | CA1233937 | F5 | c.3265A>G (p.Met1089Val) c.3280A>G (p.Met1094Val) c.2854A>G (p.Met952Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541825T>G | CA343118784 | F5 | c.3265A>C (p.Met1089Leu) c.3280A>C (p.Met1094Leu) c.2854A>C (p.Met952Leu) | |
| 1 | g.169541825T= | CA1206132469 | F5 | c.3265A= (p.Met1089=) c.3280A= (p.Met1094=) c.2854A= (p.Met952=) | |
| 1 | g.169541826A= | CA1206132471 | F5 | c.3264T= (p.Ser1088=) c.3279T= (p.Ser1093=) c.2853T= (p.Ser951=) | |
| 1 | g.169541826A>C | CA421930694 | F5 | c.3264T>G (p.Ser1088=) c.3279T>G (p.Ser1093=) c.2853T>G (p.Ser951=) | |
| 1 | g.169541826A>G | CA421930695 | F5 | c.3264T>C (p.Ser1088=) c.3279T>C (p.Ser1093=) c.2853T>C (p.Ser951=) | gnomAD v4 |
| 1 | g.169541826A>T | CA421930696 | F5 | c.3264T>A (p.Ser1088=) c.3279T>A (p.Ser1093=) c.2853T>A (p.Ser951=) | dbSNP gnomAD v2 |
| 1 | g.169541827G>A | CA343118786 | F5 | c.3263C>T (p.Ser1088Phe) c.3278C>T (p.Ser1093Phe) c.2852C>T (p.Ser951Phe) | |
| 1 | g.169541827G>C | CA1233938 | F5 | c.3263C>G (p.Ser1088Cys) c.3278C>G (p.Ser1093Cys) c.2852C>G (p.Ser951Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541827G= | CA1149138072 | F5 | c.3263C= (p.Ser1088=) c.3278C= (p.Ser1093=) c.2852C= (p.Ser951=) | |
| 1 | g.169541827G>T | CA343118788 | F5 | c.3263C>A (p.Ser1088Tyr) c.3278C>A (p.Ser1093Tyr) c.2852C>A (p.Ser951Tyr) | |
| 1 | g.169541828A>C | CA343118790 | F5 | c.3262T>G (p.Ser1088Ala) c.3277T>G (p.Ser1093Ala) c.2851T>G (p.Ser951Ala) | |
| 1 | g.169541828A>G | CA343118791 | F5 | c.3262T>C (p.Ser1088Pro) c.3277T>C (p.Ser1093Pro) c.2851T>C (p.Ser951Pro) | gnomAD v4 |
| 1 | g.169541828A>T | CA343118792 | F5 | c.3262T>A (p.Ser1088Thr) c.3277T>A (p.Ser1093Thr) c.2851T>A (p.Ser951Thr) | |
| 1 | g.169541829G>A | CA421930701 | F5 | c.3261C>T (p.Pro1087=) c.3276C>T (p.Pro1092=) c.2850C>T (p.Pro950=) | |
| 1 | g.169541829G>C | CA10608718 | F5 | c.3261C>G (p.Pro1087=) c.3276C>G (p.Pro1092=) c.2850C>G (p.Pro950=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541829G= | CA1206132474 | F5 | c.3261C= (p.Pro1087=) c.3276C= (p.Pro1092=) c.2850C= (p.Pro950=) | |
| 1 | g.169541829G>T | CA421930703 | F5 | c.3261C>A (p.Pro1087=) c.3276C>A (p.Pro1092=) c.2850C>A (p.Pro950=) | |
| 1 | g.169541830G>A | CA343118793 | F5 | c.3260C>T (p.Pro1087Leu) c.3275C>T (p.Pro1092Leu) c.2849C>T (p.Pro950Leu) | gnomAD v4 |
| 1 | g.169541830G>C | CA343118796 | F5 | c.3260C>G (p.Pro1087Arg) c.3275C>G (p.Pro1092Arg) c.2849C>G (p.Pro950Arg) | |
| 1 | g.169541830G>T | CA343118794 | F5 | c.3260C>A (p.Pro1087His) c.3275C>A (p.Pro1092His) c.2849C>A (p.Pro950His) | |
| 1 | g.169541831G>A | CA1233939 | F5 | c.3259C>T (p.Pro1087Ser) c.3274C>T (p.Pro1092Ser) c.2848C>T (p.Pro950Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541831G>C | CA343118798 | F5 | c.3259C>G (p.Pro1087Ala) c.3274C>G (p.Pro1092Ala) c.2848C>G (p.Pro950Ala) | |
| 1 | g.169541831G= | CA1206132475 | F5 | c.3259C= (p.Pro1087=) c.3274C= (p.Pro1092=) c.2848C= (p.Pro950=) | |
| 1 | g.169541831G>T | CA343118800 | F5 | c.3259C>A (p.Pro1087Thr) c.3274C>A (p.Pro1092Thr) c.2848C>A (p.Pro950Thr) | |
| 1 | g.169541832C>A | CA343118802 | F5 | c.3258G>T (p.Leu1086Phe) c.3273G>T (p.Leu1091Phe) c.2847G>T (p.Leu949Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541832C= | CA1206132477 | F5 | c.3258G= (p.Leu1086=) c.3273G= (p.Leu1091=) c.2847G= (p.Leu949=) | |
| 1 | g.169541832C>G | CA343118804 | F5 | c.3258G>C (p.Leu1086Phe) c.3273G>C (p.Leu1091Phe) c.2847G>C (p.Leu949Phe) | |
| 1 | g.169541832C>T | CA1233940 | F5 | c.3258G>A (p.Leu1086=) c.3273G>A (p.Leu1091=) c.2847G>A (p.Leu949=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541833A= | CA1141529190 | F5 | c.3257T= (p.Leu1086=) c.3272T= (p.Leu1091=) c.2846T= (p.Leu949=) | |
| 1 | g.169541833A>C | CA343118806 | F5 | c.3257T>G (p.Leu1086Trp) c.3272T>G (p.Leu1091Trp) c.2846T>G (p.Leu949Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541833A>G | CA1233941 | F5 | c.3257T>C (p.Leu1086Ser) c.3272T>C (p.Leu1091Ser) c.2846T>C (p.Leu949Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541833A>T | CA343118808 | F5 | c.3257T>A (p.Leu1086Ter) c.3272T>A (p.Leu1091Ter) c.2846T>A (p.Leu949Ter) | |
| 1 | g.169541834A>C | CA343118810 | F5 | c.3256T>G (p.Leu1086Val) c.3271T>G (p.Leu1091Val) c.2845T>G (p.Leu949Val) | |
| 1 | g.169541834A>G | CA421930708 | F5 | c.3256T>C (p.Leu1086=) c.3271T>C (p.Leu1091=) c.2845T>C (p.Leu949=) | |
| 1 | g.169541834A>T | CA343118812 | F5 | c.3256T>A (p.Leu1086Met) c.3271T>A (p.Leu1091Met) c.2845T>A (p.Leu949Met) | |
| 1 | g.169541835T>A | CA421930710 | F5 | c.3255A>T (p.Thr1085=) c.3270A>T (p.Thr1090=) c.2844A>T (p.Thr948=) | |
| 1 | g.169541835T>C | CA32385355 | F5 | c.3255A>G (p.Thr1085=) c.3270A>G (p.Thr1090=) c.2844A>G (p.Thr948=) | ClinVar dbSNP |
| 1 | g.169541835T>G | CA1233942 | F5 | c.3255A>C (p.Thr1085=) c.3270A>C (p.Thr1090=) c.2844A>C (p.Thr948=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541835T= | CA1139773060 | F5 | c.3255A= (p.Thr1085=) c.3270A= (p.Thr1090=) c.2844A= (p.Thr948=) | |
| 1 | g.169541836G>A | CA343118818 | F5 | c.3254C>T (p.Thr1085Ile) c.3269C>T (p.Thr1090Ile) c.2843C>T (p.Thr948Ile) | gnomAD v4 |
| 1 | g.169541836G>C | CA343118815 | F5 | c.3254C>G (p.Thr1085Arg) c.3269C>G (p.Thr1090Arg) c.2843C>G (p.Thr948Arg) | |
| 1 | g.169541836G>T | CA343118817 | F5 | c.3254C>A (p.Thr1085Lys) c.3269C>A (p.Thr1090Lys) c.2843C>A (p.Thr948Lys) | |
| 1 | g.169541837T>A | CA1233943 | F5 | c.3253A>T (p.Thr1085Ser) c.3268A>T (p.Thr1090Ser) c.2842A>T (p.Thr948Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541837T>C | CA343118821 | F5 | c.3253A>G (p.Thr1085Ala) c.3268A>G (p.Thr1090Ala) c.2842A>G (p.Thr948Ala) | |
| 1 | g.169541837T>G | CA343118823 | F5 | c.3253A>C (p.Thr1085Pro) c.3268A>C (p.Thr1090Pro) c.2842A>C (p.Thr948Pro) | |
| 1 | g.169541837T= | CA1206132482 | F5 | c.3253A= (p.Thr1085=) c.3268A= (p.Thr1090=) c.2842A= (p.Thr948=) | |
| 1 | g.169541838C>A | CA343118825 | F5 | c.3252G>T (p.Gln1084His) c.3267G>T (p.Gln1089His) c.2841G>T (p.Gln947His) | |
| 1 | g.169541838C= | CA1206132483 | F5 | c.3252G= (p.Gln1084=) c.3267G= (p.Gln1089=) c.2841G= (p.Gln947=) | |
| 1 | g.169541838C>G | CA343118827 | F5 | c.3252G>C (p.Gln1084His) c.3267G>C (p.Gln1089His) c.2841G>C (p.Gln947His) | |
| 1 | g.169541838C>T | CA1233944 | F5 | c.3252G>A (p.Gln1084=) c.3267G>A (p.Gln1089=) c.2841G>A (p.Gln947=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541839T>A | CA343118829 | F5 | c.3251A>T (p.Gln1084Leu) c.3266A>T (p.Gln1089Leu) c.2840A>T (p.Gln947Leu) | |
| 1 | g.169541839T>C | CA343118831 | F5 | c.3251A>G (p.Gln1084Arg) c.3266A>G (p.Gln1089Arg) c.2840A>G (p.Gln947Arg) | |
| 1 | g.169541839T>G | CA343118833 | F5 | c.3251A>C (p.Gln1084Pro) c.3266A>C (p.Gln1089Pro) c.2840A>C (p.Gln947Pro) | |
| 1 | g.169541840G>A | CA343118834 | F5 | c.3250C>T (p.Gln1084Ter) c.3265C>T (p.Gln1089Ter) c.2839C>T (p.Gln947Ter) | |
| 1 | g.169541840G>C | CA343118836 | F5 | c.3250C>G (p.Gln1084Glu) c.3265C>G (p.Gln1089Glu) c.2839C>G (p.Gln947Glu) | dbSNP gnomAD v4 |
| 1 | g.169541840G= | CA1206132485 | F5 | c.3250C= (p.Gln1084=) c.3265C= (p.Gln1089=) c.2839C= (p.Gln947=) | |
| 1 | g.169541840G>T | CA343118838 | F5 | c.3250C>A (p.Gln1084Lys) c.3265C>A (p.Gln1089Lys) c.2839C>A (p.Gln947Lys) | |
| 1 | g.169541841A>C | CA343118839 | F5 | c.3249T>G (p.Asn1083Lys) c.3264T>G (p.Asn1088Lys) c.2838T>G (p.Asn946Lys) | |
| 1 | g.169541841A>G | CA421930721 | F5 | c.3249T>C (p.Asn1083=) c.3264T>C (p.Asn1088=) c.2838T>C (p.Asn946=) | |
| 1 | g.169541841A>T | CA343118841 | F5 | c.3249T>A (p.Asn1083Lys) c.3264T>A (p.Asn1088Lys) c.2838T>A (p.Asn946Lys) | |
| 1 | g.169541842T>A | CA343118843 | F5 | c.3248A>T (p.Asn1083Ile) c.3263A>T (p.Asn1088Ile) c.2837A>T (p.Asn946Ile) | |
| 1 | g.169541842T>C | CA343118846 | F5 | c.3248A>G (p.Asn1083Ser) c.3263A>G (p.Asn1088Ser) c.2837A>G (p.Asn946Ser) | dbSNP gnomAD v4 |
| 1 | g.169541842T>G | CA343118845 | F5 | c.3248A>C (p.Asn1083Thr) c.3263A>C (p.Asn1088Thr) c.2837A>C (p.Asn946Thr) | |
| 1 | g.169541842T= | CA1206132487 | F5 | c.3248A= (p.Asn1083=) c.3263A= (p.Asn1088=) c.2837A= (p.Asn946=) | |
| 1 | g.169541843T>A | CA343118848 | F5 | c.3247A>T (p.Asn1083Tyr) c.3262A>T (p.Asn1088Tyr) c.2836A>T (p.Asn946Tyr) | gnomAD v4 |
| 1 | g.169541843T>C | CA343118850 | F5 | c.3247A>G (p.Asn1083Asp) c.3262A>G (p.Asn1088Asp) c.2836A>G (p.Asn946Asp) | |
| 1 | g.169541843T>G | CA343118852 | F5 | c.3247A>C (p.Asn1083His) c.3262A>C (p.Asn1088His) c.2836A>C (p.Asn946His) | gnomAD v4 |
| 1 | g.169541844G>A | CA421930723 | F5 | c.3246C>T (p.Leu1082=) c.3261C>T (p.Leu1087=) c.2835C>T (p.Leu945=) | |
| 1 | g.169541844G>C | CA421930724 | F5 | c.3246C>G (p.Leu1082=) c.3261C>G (p.Leu1087=) c.2835C>G (p.Leu945=) | |
| 1 | g.169541844G>T | CA421930726 | F5 | c.3246C>A (p.Leu1082=) c.3261C>A (p.Leu1087=) c.2835C>A (p.Leu945=) |