| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644817dup | CA2580068526 | BTD | c.901dup (p.Trp301LeufsTer4) c.399+2760dup (n.399+2760dup) c.165+2760dup (n.165+2760dup) c.961dup (p.Trp321LeufsTer4) c.967dup (p.Trp323LeufsTer4) c.679dup (p.Trp227LeufsTer4) c.*2679dup (n.*2679dup) | ClinVar |
| 3 | g.15644815T>A | CA351607575 | BTD | c.899T>A (p.Phe300Tyr) c.399+2758T>A (n.399+2758T>A) c.165+2758T>A (n.165+2758T>A) c.959T>A (p.Phe320Tyr) c.965T>A (p.Phe322Tyr) c.677T>A (p.Phe226Tyr) c.*2677T>A (n.*2677T>A) | |
| 3 | g.15644815T>C | CA351607576 | BTD | c.899T>C (p.Phe300Ser) c.399+2758T>C (n.399+2758T>C) c.165+2758T>C (n.165+2758T>C) c.959T>C (p.Phe320Ser) c.965T>C (p.Phe322Ser) c.677T>C (p.Phe226Ser) c.*2677T>C (n.*2677T>C) | |
| 3 | g.15644815T>G | CA351607577 | BTD | c.899T>G (p.Phe300Cys) c.399+2758T>G (n.399+2758T>G) c.165+2758T>G (n.165+2758T>G) c.959T>G (p.Phe320Cys) c.965T>G (p.Phe322Cys) c.677T>G (p.Phe226Cys) c.*2677T>G (n.*2677T>G) | |
| 3 | g.15644816T>A | CA351607578 | BTD | c.900T>A (p.Phe300Leu) c.399+2759T>A (n.399+2759T>A) c.165+2759T>A (n.165+2759T>A) c.960T>A (p.Phe320Leu) c.966T>A (p.Phe322Leu) c.678T>A (p.Phe226Leu) c.*2678T>A (n.*2678T>A) | |
| 3 | g.15644816T>C | CA432819106 | BTD | c.900T>C (p.Phe300=) c.399+2759T>C (n.399+2759T>C) c.165+2759T>C (n.165+2759T>C) c.960T>C (p.Phe320=) c.966T>C (p.Phe322=) c.678T>C (p.Phe226=) c.*2678T>C (n.*2678T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644816T>G | CA351607579 | BTD | c.900T>G (p.Phe300Leu) c.399+2759T>G (n.399+2759T>G) c.165+2759T>G (n.165+2759T>G) c.960T>G (p.Phe320Leu) c.966T>G (p.Phe322Leu) c.678T>G (p.Phe226Leu) c.*2678T>G (n.*2678T>G) | |
| 3 | g.15644816T= | CA1347664515 | BTD | c.900T= (p.Phe300=) c.399+2759T= (n.399+2759T=) c.165+2759T= (n.165+2759T=) c.960T= (p.Phe320=) c.966T= (p.Phe322=) c.678T= (p.Phe226=) c.*2678T= (n.*2678T=) | |
| 3 | g.15644817T>A | CA351607580 | BTD | c.901T>A (p.Trp301Arg) c.399+2760T>A (n.399+2760T>A) c.165+2760T>A (n.165+2760T>A) c.961T>A (p.Trp321Arg) c.967T>A (p.Trp323Arg) c.679T>A (p.Trp227Arg) c.*2679T>A (n.*2679T>A) | |
| 3 | g.15644817T>C | CA351607581 | BTD | c.901T>C (p.Trp301Arg) c.399+2760T>C (n.399+2760T>C) c.165+2760T>C (n.165+2760T>C) c.961T>C (p.Trp321Arg) c.967T>C (p.Trp323Arg) c.679T>C (p.Trp227Arg) c.*2679T>C (n.*2679T>C) | |
| 3 | g.15644817T>G | CA351607582 | BTD | c.901T>G (p.Trp301Gly) c.399+2760T>G (n.399+2760T>G) c.165+2760T>G (n.165+2760T>G) c.961T>G (p.Trp321Gly) c.967T>G (p.Trp323Gly) c.679T>G (p.Trp227Gly) c.*2679T>G (n.*2679T>G) | |
| 3 | g.15644818G>A | CA351607583 | BTD | c.902G>A (p.Trp301Ter) c.399+2761G>A (n.399+2761G>A) c.165+2761G>A (n.165+2761G>A) c.962G>A (p.Trp321Ter) c.968G>A (p.Trp323Ter) c.680G>A (p.Trp227Ter) c.*2680G>A (n.*2680G>A) | |
| 3 | g.15644818G>C | CA351607584 | BTD | c.902G>C (p.Trp301Ser) c.399+2761G>C (n.399+2761G>C) c.165+2761G>C (n.165+2761G>C) c.962G>C (p.Trp321Ser) c.968G>C (p.Trp323Ser) c.680G>C (p.Trp227Ser) c.*2680G>C (n.*2680G>C) | |
| 3 | g.15644818G>T | CA351607585 | BTD | c.902G>T (p.Trp301Leu) c.399+2761G>T (n.399+2761G>T) c.165+2761G>T (n.165+2761G>T) c.962G>T (p.Trp321Leu) c.968G>T (p.Trp323Leu) c.680G>T (p.Trp227Leu) c.*2680G>T (n.*2680G>T) | gnomAD v4 |
| 3 | g.15644819G>A | CA351607588 | BTD | c.903G>A (p.Trp301Ter) c.399+2762G>A (n.399+2762G>A) c.165+2762G>A (n.165+2762G>A) c.963G>A (p.Trp321Ter) c.969G>A (p.Trp323Ter) c.681G>A (p.Trp227Ter) c.*2681G>A (n.*2681G>A) | gnomAD v4 |
| 3 | g.15644819G>C | CA351607587 | BTD | c.903G>C (p.Trp301Cys) c.399+2762G>C (n.399+2762G>C) c.165+2762G>C (n.165+2762G>C) c.963G>C (p.Trp321Cys) c.969G>C (p.Trp323Cys) c.681G>C (p.Trp227Cys) c.*2681G>C (n.*2681G>C) | |
| 3 | g.15644819G>T | CA351607586 | BTD | c.903G>T (p.Trp301Cys) c.399+2762G>T (n.399+2762G>T) c.165+2762G>T (n.165+2762G>T) c.963G>T (p.Trp321Cys) c.969G>T (p.Trp323Cys) c.681G>T (p.Trp227Cys) c.*2681G>T (n.*2681G>T) | gnomAD v4 |
| 3 | g.15644820T>A | CA351607589 | BTD | c.904T>A (p.Tyr302Asn) c.399+2763T>A (n.399+2763T>A) c.165+2763T>A (n.165+2763T>A) c.964T>A (p.Tyr322Asn) c.970T>A (p.Tyr324Asn) c.682T>A (p.Tyr228Asn) c.*2682T>A (n.*2682T>A) | |
| 3 | g.15644820T>C | CA351607590 | BTD | c.904T>C (p.Tyr302His) c.399+2763T>C (n.399+2763T>C) c.165+2763T>C (n.165+2763T>C) c.964T>C (p.Tyr322His) c.970T>C (p.Tyr324His) c.682T>C (p.Tyr228His) c.*2682T>C (n.*2682T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644820T>G | CA351607591 | BTD | c.904T>G (p.Tyr302Asp) c.399+2763T>G (n.399+2763T>G) c.165+2763T>G (n.165+2763T>G) c.964T>G (p.Tyr322Asp) c.970T>G (p.Tyr324Asp) c.682T>G (p.Tyr228Asp) c.*2682T>G (n.*2682T>G) | |
| 3 | g.15644820T= | CA1347664517 | BTD | c.904T= (p.Tyr302=) c.399+2763T= (n.399+2763T=) c.165+2763T= (n.165+2763T=) c.964T= (p.Tyr322=) c.970T= (p.Tyr324=) c.682T= (p.Tyr228=) c.*2682T= (n.*2682T=) | |
| 3 | g.15644821A= | CA1347664521 | BTD | c.905A= (p.Tyr302=) c.399+2764A= (n.399+2764A=) c.165+2764A= (n.165+2764A=) c.965A= (p.Tyr322=) c.971A= (p.Tyr324=) c.683A= (p.Tyr228=) c.*2683A= (n.*2683A=) | |
| 3 | g.15644821A>C | CA351607592 | BTD | c.905A>C (p.Tyr302Ser) c.399+2764A>C (n.399+2764A>C) c.165+2764A>C (n.165+2764A>C) c.965A>C (p.Tyr322Ser) c.971A>C (p.Tyr324Ser) c.683A>C (p.Tyr228Ser) c.*2683A>C (n.*2683A>C) | |
| 3 | g.15644821A>G | CA70622350 | BTD | c.905A>G (p.Tyr302Cys) c.399+2764A>G (n.399+2764A>G) c.165+2764A>G (n.165+2764A>G) c.965A>G (p.Tyr322Cys) c.971A>G (p.Tyr324Cys) c.683A>G (p.Tyr228Cys) c.*2683A>G (n.*2683A>G) | dbSNP |
| 3 | g.15644821A>T | CA351607593 | BTD | c.905A>T (p.Tyr302Phe) c.399+2764A>T (n.399+2764A>T) c.165+2764A>T (n.165+2764A>T) c.965A>T (p.Tyr322Phe) c.971A>T (p.Tyr324Phe) c.683A>T (p.Tyr228Phe) c.*2683A>T (n.*2683A>T) | |
| 3 | g.15644822C>A | CA2277399 | BTD | c.906C>A (p.Tyr302Ter) c.399+2765C>A (n.399+2765C>A) c.165+2765C>A (n.165+2765C>A) c.966C>A (p.Tyr322Ter) c.972C>A (p.Tyr324Ter) c.684C>A (p.Tyr228Ter) c.*2684C>A (n.*2684C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644822C= | CA1347664524 | BTD | c.906C= (p.Tyr302=) c.399+2765C= (n.399+2765C=) c.165+2765C= (n.165+2765C=) c.966C= (p.Tyr322=) c.972C= (p.Tyr324=) c.684C= (p.Tyr228=) c.*2684C= (n.*2684C=) | |
| 3 | g.15644822C>G | CA351607594 | BTD | c.906C>G (p.Tyr302Ter) c.399+2765C>G (n.399+2765C>G) c.165+2765C>G (n.165+2765C>G) c.966C>G (p.Tyr322Ter) c.972C>G (p.Tyr324Ter) c.684C>G (p.Tyr228Ter) c.*2684C>G (n.*2684C>G) | |
| 3 | g.15644822C>T | CA432819112 | BTD | c.906C>T (p.Tyr302=) c.399+2765C>T (n.399+2765C>T) c.165+2765C>T (n.165+2765C>T) c.966C>T (p.Tyr322=) c.972C>T (p.Tyr324=) c.684C>T (p.Tyr228=) c.*2684C>T (n.*2684C>T) | gnomAD v4 COSMIC |
| 3 | g.15644823C>A | CA351607595 | BTD | c.907C>A (p.His303Asn) c.399+2766C>A (n.399+2766C>A) c.165+2766C>A (n.165+2766C>A) c.967C>A (p.His323Asn) c.973C>A (p.His325Asn) c.685C>A (p.His229Asn) c.*2685C>A (n.*2685C>A) | |
| 3 | g.15644823C>G | CA351607596 | BTD | c.907C>G (p.His303Asp) c.399+2766C>G (n.399+2766C>G) c.165+2766C>G (n.165+2766C>G) c.967C>G (p.His323Asp) c.973C>G (p.His325Asp) c.685C>G (p.His229Asp) c.*2685C>G (n.*2685C>G) | |
| 3 | g.15644823C>T | CA351607597 | BTD | c.907C>T (p.His303Tyr) c.399+2766C>T (n.399+2766C>T) c.165+2766C>T (n.165+2766C>T) c.967C>T (p.His323Tyr) c.973C>T (p.His325Tyr) c.685C>T (p.His229Tyr) c.*2685C>T (n.*2685C>T) | |
| 3 | g.15644824A= | CA1347664528 | BTD | c.908A= (p.His303=) c.399+2767A= (n.399+2767A=) c.165+2767A= (n.165+2767A=) c.968A= (p.His323=) c.974A= (p.His325=) c.686A= (p.His229=) c.*2686A= (n.*2686A=) | |
| 3 | g.15644824A>C | CA351607598 | BTD | c.908A>C (p.His303Pro) c.399+2767A>C (n.399+2767A>C) c.165+2767A>C (n.165+2767A>C) c.968A>C (p.His323Pro) c.974A>C (p.His325Pro) c.686A>C (p.His229Pro) c.*2686A>C (n.*2686A>C) | |
| 3 | g.15644824A>G | CA220339 | BTD | c.908A>G (p.His303Arg) c.399+2767A>G (n.399+2767A>G) c.165+2767A>G (n.165+2767A>G) c.968A>G (p.His323Arg) c.974A>G (p.His325Arg) c.686A>G (p.His229Arg) c.*2686A>G (n.*2686A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644824A>T | CA351607599 | BTD | c.908A>T (p.His303Leu) c.399+2767A>T (n.399+2767A>T) c.165+2767A>T (n.165+2767A>T) c.968A>T (p.His323Leu) c.974A>T (p.His325Leu) c.686A>T (p.His229Leu) c.*2686A>T (n.*2686A>T) | |
| 3 | g.15644825T>A | CA351607600 | BTD | c.909T>A (p.His303Gln) c.399+2768T>A (n.399+2768T>A) c.165+2768T>A (n.165+2768T>A) c.969T>A (p.His323Gln) c.975T>A (p.His325Gln) c.687T>A (p.His229Gln) c.*2687T>A (n.*2687T>A) | |
| 3 | g.15644825T>C | CA432819116 | BTD | c.909T>C (p.His303=) c.399+2768T>C (n.399+2768T>C) c.165+2768T>C (n.165+2768T>C) c.969T>C (p.His323=) c.975T>C (p.His325=) c.687T>C (p.His229=) c.*2687T>C (n.*2687T>C) | gnomAD v4 |
| 3 | g.15644825T>G | CA351607601 | BTD | c.909T>G (p.His303Gln) c.399+2768T>G (n.399+2768T>G) c.165+2768T>G (n.165+2768T>G) c.969T>G (p.His323Gln) c.975T>G (p.His325Gln) c.687T>G (p.His229Gln) c.*2687T>G (n.*2687T>G) | |
| 3 | g.15644826G>A | CA351607602 | BTD | c.910G>A (p.Asp304Asn) c.399+2769G>A (n.399+2769G>A) c.165+2769G>A (n.165+2769G>A) c.970G>A (p.Asp324Asn) c.976G>A (p.Asp326Asn) c.688G>A (p.Asp230Asn) c.*2688G>A (n.*2688G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644826G>C | CA351607603 | BTD | c.910G>C (p.Asp304His) c.399+2769G>C (n.399+2769G>C) c.165+2769G>C (n.165+2769G>C) c.970G>C (p.Asp324His) c.976G>C (p.Asp326His) c.688G>C (p.Asp230His) c.*2688G>C (n.*2688G>C) | |
| 3 | g.15644826G= | CA1347664535 | BTD | c.910G= (p.Asp304=) c.399+2769G= (n.399+2769G=) c.165+2769G= (n.165+2769G=) c.970G= (p.Asp324=) c.976G= (p.Asp326=) c.688G= (p.Asp230=) c.*2688G= (n.*2688G=) | |
| 3 | g.15644826G>T | CA351607604 | BTD | c.910G>T (p.Asp304Tyr) c.399+2769G>T (n.399+2769G>T) c.165+2769G>T (n.165+2769G>T) c.970G>T (p.Asp324Tyr) c.976G>T (p.Asp326Tyr) c.688G>T (p.Asp230Tyr) c.*2688G>T (n.*2688G>T) | gnomAD v4 COSMIC |
| 3 | g.15644827A>C | CA351607605 | BTD | c.911A>C (p.Asp304Ala) c.399+2770A>C (n.399+2770A>C) c.165+2770A>C (n.165+2770A>C) c.971A>C (p.Asp324Ala) c.977A>C (p.Asp326Ala) c.689A>C (p.Asp230Ala) c.*2689A>C (n.*2689A>C) | |
| 3 | g.15644827A>G | CA351607606 | BTD | c.911A>G (p.Asp304Gly) c.399+2770A>G (n.399+2770A>G) c.165+2770A>G (n.165+2770A>G) c.971A>G (p.Asp324Gly) c.977A>G (p.Asp326Gly) c.689A>G (p.Asp230Gly) c.*2689A>G (n.*2689A>G) | gnomAD v4 |
| 3 | g.15644827A>T | CA351607607 | BTD | c.911A>T (p.Asp304Val) c.399+2770A>T (n.399+2770A>T) c.165+2770A>T (n.165+2770A>T) c.971A>T (p.Asp324Val) c.977A>T (p.Asp326Val) c.689A>T (p.Asp230Val) c.*2689A>T (n.*2689A>T) | |
| 3 | g.15644828C>A | CA351607608 | BTD | c.912C>A (p.Asp304Glu) c.399+2771C>A (n.399+2771C>A) c.165+2771C>A (n.165+2771C>A) c.972C>A (p.Asp324Glu) c.978C>A (p.Asp326Glu) c.690C>A (p.Asp230Glu) c.*2690C>A (n.*2690C>A) | |
| 3 | g.15644828C= | CA1347664537 | BTD | c.912C= (p.Asp304=) c.399+2771C= (n.399+2771C=) c.165+2771C= (n.165+2771C=) c.972C= (p.Asp324=) c.978C= (p.Asp326=) c.690C= (p.Asp230=) c.*2690C= (n.*2690C=) | |
| 3 | g.15644828C>G | CA351607609 | BTD | c.912C>G (p.Asp304Glu) c.399+2771C>G (n.399+2771C>G) c.165+2771C>G (n.165+2771C>G) c.972C>G (p.Asp324Glu) c.978C>G (p.Asp326Glu) c.690C>G (p.Asp230Glu) c.*2690C>G (n.*2690C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644828C>T | CA432819118 | BTD | c.912C>T (p.Asp304=) c.399+2771C>T (n.399+2771C>T) c.165+2771C>T (n.165+2771C>T) c.972C>T (p.Asp324=) c.978C>T (p.Asp326=) c.690C>T (p.Asp230=) c.*2690C>T (n.*2690C>T) | |
| 3 | g.15644829A>C | CA351607610 | BTD | c.913A>C (p.Met305Leu) c.399+2772A>C (n.399+2772A>C) c.165+2772A>C (n.165+2772A>C) c.973A>C (p.Met325Leu) c.979A>C (p.Met327Leu) c.691A>C (p.Met231Leu) c.*2691A>C (n.*2691A>C) | |
| 3 | g.15644829A>G | CA351607611 | BTD | c.913A>G (p.Met305Val) c.399+2772A>G (n.399+2772A>G) c.165+2772A>G (n.165+2772A>G) c.973A>G (p.Met325Val) c.979A>G (p.Met327Val) c.691A>G (p.Met231Val) c.*2691A>G (n.*2691A>G) | gnomAD v4 |
| 3 | g.15644829A>T | CA351607612 | BTD | c.913A>T (p.Met305Leu) c.399+2772A>T (n.399+2772A>T) c.165+2772A>T (n.165+2772A>T) c.973A>T (p.Met325Leu) c.979A>T (p.Met327Leu) c.691A>T (p.Met231Leu) c.*2691A>T (n.*2691A>T) | |
| 3 | g.15644830T>A | CA351607615 | BTD | c.914T>A (p.Met305Lys) c.399+2773T>A (n.399+2773T>A) c.165+2773T>A (n.165+2773T>A) c.974T>A (p.Met325Lys) c.980T>A (p.Met327Lys) c.692T>A (p.Met231Lys) c.*2692T>A (n.*2692T>A) | |
| 3 | g.15644830T>C | CA351607614 | BTD | c.914T>C (p.Met305Thr) c.399+2773T>C (n.399+2773T>C) c.165+2773T>C (n.165+2773T>C) c.974T>C (p.Met325Thr) c.980T>C (p.Met327Thr) c.692T>C (p.Met231Thr) c.*2692T>C (n.*2692T>C) | |
| 3 | g.15644830T>G | CA351607613 | BTD | c.914T>G (p.Met305Arg) c.399+2773T>G (n.399+2773T>G) c.165+2773T>G (n.165+2773T>G) c.974T>G (p.Met325Arg) c.980T>G (p.Met327Arg) c.692T>G (p.Met231Arg) c.*2692T>G (n.*2692T>G) | |
| 3 | g.15644831G>A | CA2277400 | BTD | c.915G>A (p.Met305Ile) c.399+2774G>A (n.399+2774G>A) c.165+2774G>A (n.165+2774G>A) c.975G>A (p.Met325Ile) c.981G>A (p.Met327Ile) c.693G>A (p.Met231Ile) c.*2693G>A (n.*2693G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644831G>C | CA351607617 | BTD | c.915G>C (p.Met305Ile) c.399+2774G>C (n.399+2774G>C) c.165+2774G>C (n.165+2774G>C) c.975G>C (p.Met325Ile) c.981G>C (p.Met327Ile) c.693G>C (p.Met231Ile) c.*2693G>C (n.*2693G>C) | |
| 3 | g.15644831G= | CA1347664539 | BTD | c.915G= (p.Met305=) c.399+2774G= (n.399+2774G=) c.165+2774G= (n.165+2774G=) c.975G= (p.Met325=) c.981G= (p.Met327=) c.693G= (p.Met231=) c.*2693G= (n.*2693G=) | |
| 3 | g.15644831G>T | CA351607616 | BTD | c.915G>T (p.Met305Ile) c.399+2774G>T (n.399+2774G>T) c.165+2774G>T (n.165+2774G>T) c.975G>T (p.Met325Ile) c.981G>T (p.Met327Ile) c.693G>T (p.Met231Ile) c.*2693G>T (n.*2693G>T) | |
| 3 | g.15644832del | CA2755329001 | BTD | c.916del (p.Glu306LysfsTer8) c.399+2775del (n.399+2775del) c.165+2775del (n.165+2775del) c.976del (p.Glu326LysfsTer8) c.982del (p.Glu328LysfsTer8) c.694del (p.Glu232LysfsTer8) c.*2694del (n.*2694del) | |
| 3 | g.15644832G>A | CA351607618 | BTD | c.916G>A (p.Glu306Lys) c.399+2775G>A (n.399+2775G>A) c.165+2775G>A (n.165+2775G>A) c.976G>A (p.Glu326Lys) c.982G>A (p.Glu328Lys) c.694G>A (p.Glu232Lys) c.*2694G>A (n.*2694G>A) | |
| 3 | g.15644832G>C | CA351607619 | BTD | c.916G>C (p.Glu306Gln) c.399+2775G>C (n.399+2775G>C) c.165+2775G>C (n.165+2775G>C) c.976G>C (p.Glu326Gln) c.982G>C (p.Glu328Gln) c.694G>C (p.Glu232Gln) c.*2694G>C (n.*2694G>C) | |
| 3 | g.15644832G>T | CA351607620 | BTD | c.916G>T (p.Glu306Ter) c.399+2775G>T (n.399+2775G>T) c.165+2775G>T (n.165+2775G>T) c.976G>T (p.Glu326Ter) c.982G>T (p.Glu328Ter) c.694G>T (p.Glu232Ter) c.*2694G>T (n.*2694G>T) | |
| 3 | g.15644833A= | CA1347664545 | BTD | c.917A= (p.Glu306=) c.399+2776A= (n.399+2776A=) c.165+2776A= (n.165+2776A=) c.977A= (p.Glu326=) c.983A= (p.Glu328=) c.695A= (p.Glu232=) c.*2695A= (n.*2695A=) | |
| 3 | g.15644833A>C | CA2277401 | BTD | c.917A>C (p.Glu306Ala) c.399+2776A>C (n.399+2776A>C) c.165+2776A>C (n.165+2776A>C) c.977A>C (p.Glu326Ala) c.983A>C (p.Glu328Ala) c.695A>C (p.Glu232Ala) c.*2695A>C (n.*2695A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644833A>G | CA351607621 | BTD | c.917A>G (p.Glu306Gly) c.399+2776A>G (n.399+2776A>G) c.165+2776A>G (n.165+2776A>G) c.977A>G (p.Glu326Gly) c.983A>G (p.Glu328Gly) c.695A>G (p.Glu232Gly) c.*2695A>G (n.*2695A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644833A>T | CA351607622 | BTD | c.917A>T (p.Glu306Val) c.399+2776A>T (n.399+2776A>T) c.165+2776A>T (n.165+2776A>T) c.977A>T (p.Glu326Val) c.983A>T (p.Glu328Val) c.695A>T (p.Glu232Val) c.*2695A>T (n.*2695A>T) | |
| 3 | g.15644836dup | CA2580068527 | BTD | c.920dup (p.Asn307LysfsTer27) c.399+2779dup (n.399+2779dup) c.165+2779dup (n.165+2779dup) c.980dup (p.Asn327LysfsTer27) c.986dup (p.Asn329LysfsTer27) c.698dup (p.Asn233LysfsTer27) c.*2698dup (n.*2698dup) | ClinVar |
| 3 | g.15644834A>C | CA351607623 | BTD | c.918A>C (p.Glu306Asp) c.399+2777A>C (n.399+2777A>C) c.165+2777A>C (n.165+2777A>C) c.978A>C (p.Glu326Asp) c.984A>C (p.Glu328Asp) c.696A>C (p.Glu232Asp) c.*2696A>C (n.*2696A>C) | |
| 3 | g.15644834A>G | CA432819127 | BTD | c.918A>G (p.Glu306=) c.399+2777A>G (n.399+2777A>G) c.165+2777A>G (n.165+2777A>G) c.978A>G (p.Glu326=) c.984A>G (p.Glu328=) c.696A>G (p.Glu232=) c.*2696A>G (n.*2696A>G) | gnomAD v4 |
| 3 | g.15644834A>T | CA351607624 | BTD | c.918A>T (p.Glu306Asp) c.399+2777A>T (n.399+2777A>T) c.165+2777A>T (n.165+2777A>T) c.978A>T (p.Glu326Asp) c.984A>T (p.Glu328Asp) c.696A>T (p.Glu232Asp) c.*2696A>T (n.*2696A>T) | |
| 3 | g.15644835A>C | CA351607625 | BTD | c.919A>C (p.Asn307His) c.399+2778A>C (n.399+2778A>C) c.165+2778A>C (n.165+2778A>C) c.979A>C (p.Asn327His) c.985A>C (p.Asn329His) c.697A>C (p.Asn233His) c.*2697A>C (n.*2697A>C) | |
| 3 | g.15644835A>G | CA351607626 | BTD | c.919A>G (p.Asn307Asp) c.399+2778A>G (n.399+2778A>G) c.165+2778A>G (n.165+2778A>G) c.979A>G (p.Asn327Asp) c.985A>G (p.Asn329Asp) c.697A>G (p.Asn233Asp) c.*2697A>G (n.*2697A>G) | |
| 3 | g.15644835A>T | CA351607627 | BTD | c.919A>T (p.Asn307Tyr) c.399+2778A>T (n.399+2778A>T) c.165+2778A>T (n.165+2778A>T) c.979A>T (p.Asn327Tyr) c.985A>T (p.Asn329Tyr) c.697A>T (p.Asn233Tyr) c.*2697A>T (n.*2697A>T) | |
| 3 | g.15644836A>C | CA351607628 | BTD | c.920A>C (p.Asn307Thr) c.399+2779A>C (n.399+2779A>C) c.165+2779A>C (n.165+2779A>C) c.980A>C (p.Asn327Thr) c.986A>C (p.Asn329Thr) c.698A>C (p.Asn233Thr) c.*2698A>C (n.*2698A>C) | COSMIC |
| 3 | g.15644836A>G | CA351607629 | BTD | c.920A>G (p.Asn307Ser) c.399+2779A>G (n.399+2779A>G) c.165+2779A>G (n.165+2779A>G) c.980A>G (p.Asn327Ser) c.986A>G (p.Asn329Ser) c.698A>G (p.Asn233Ser) c.*2698A>G (n.*2698A>G) | |
| 3 | g.15644836A>T | CA351607630 | BTD | c.920A>T (p.Asn307Ile) c.399+2779A>T (n.399+2779A>T) c.165+2779A>T (n.165+2779A>T) c.980A>T (p.Asn327Ile) c.986A>T (p.Asn329Ile) c.698A>T (p.Asn233Ile) c.*2698A>T (n.*2698A>T) | |
| 3 | g.15644837T>A | CA351607631 | BTD | c.921T>A (p.Asn307Lys) c.399+2780T>A (n.399+2780T>A) c.165+2780T>A (n.165+2780T>A) c.981T>A (p.Asn327Lys) c.987T>A (p.Asn329Lys) c.699T>A (p.Asn233Lys) c.*2699T>A (n.*2699T>A) | |
| 3 | g.15644837T>C | CA432819129 | BTD | c.921T>C (p.Asn307=) c.399+2780T>C (n.399+2780T>C) c.165+2780T>C (n.165+2780T>C) c.981T>C (p.Asn327=) c.987T>C (p.Asn329=) c.699T>C (p.Asn233=) c.*2699T>C (n.*2699T>C) | |
| 3 | g.15644837T>G | CA351607632 | BTD | c.921T>G (p.Asn307Lys) c.399+2780T>G (n.399+2780T>G) c.165+2780T>G (n.165+2780T>G) c.981T>G (p.Asn327Lys) c.987T>G (p.Asn329Lys) c.699T>G (p.Asn233Lys) c.*2699T>G (n.*2699T>G) | |
| 3 | g.15644838C>A | CA351607633 | BTD | c.922C>A (p.Pro308Thr) c.399+2781C>A (n.399+2781C>A) c.165+2781C>A (n.165+2781C>A) c.982C>A (p.Pro328Thr) c.988C>A (p.Pro330Thr) c.700C>A (p.Pro234Thr) c.*2700C>A (n.*2700C>A) | |
| 3 | g.15644838C>G | CA351607634 | BTD | c.922C>G (p.Pro308Ala) c.399+2781C>G (n.399+2781C>G) c.165+2781C>G (n.165+2781C>G) c.982C>G (p.Pro328Ala) c.988C>G (p.Pro330Ala) c.700C>G (p.Pro234Ala) c.*2700C>G (n.*2700C>G) | |
| 3 | g.15644838C>T | CA351607635 | BTD | c.922C>T (p.Pro308Ser) c.399+2781C>T (n.399+2781C>T) c.165+2781C>T (n.165+2781C>T) c.982C>T (p.Pro328Ser) c.988C>T (p.Pro330Ser) c.700C>T (p.Pro234Ser) c.*2700C>T (n.*2700C>T) | |
| 3 | g.15644839C>A | CA351607636 | BTD | c.923C>A (p.Pro308His) c.399+2782C>A (n.399+2782C>A) c.165+2782C>A (n.165+2782C>A) c.983C>A (p.Pro328His) c.989C>A (p.Pro330His) c.701C>A (p.Pro234His) c.*2701C>A (n.*2701C>A) | |
| 3 | g.15644839C>G | CA351607637 | BTD | c.923C>G (p.Pro308Arg) c.399+2782C>G (n.399+2782C>G) c.165+2782C>G (n.165+2782C>G) c.983C>G (p.Pro328Arg) c.989C>G (p.Pro330Arg) c.701C>G (p.Pro234Arg) c.*2701C>G (n.*2701C>G) | |
| 3 | g.15644839C>T | CA351607638 | BTD | c.923C>T (p.Pro308Leu) c.399+2782C>T (n.399+2782C>T) c.165+2782C>T (n.165+2782C>T) c.983C>T (p.Pro328Leu) c.989C>T (p.Pro330Leu) c.701C>T (p.Pro234Leu) c.*2701C>T (n.*2701C>T) | COSMIC |
| 3 | g.15644840C>A | CA432819132 | BTD | c.924C>A (p.Pro308=) c.399+2783C>A (n.399+2783C>A) c.165+2783C>A (n.165+2783C>A) c.984C>A (p.Pro328=) c.990C>A (p.Pro330=) c.702C>A (p.Pro234=) c.*2702C>A (n.*2702C>A) | |
| 3 | g.15644840C= | CA1347664550 | BTD | c.924C= (p.Pro308=) c.399+2783C= (n.399+2783C=) c.165+2783C= (n.165+2783C=) c.984C= (p.Pro328=) c.990C= (p.Pro330=) c.702C= (p.Pro234=) c.*2702C= (n.*2702C=) | |
| 3 | g.15644840C>G | CA432819133 | BTD | c.924C>G (p.Pro308=) c.399+2783C>G (n.399+2783C>G) c.165+2783C>G (n.165+2783C>G) c.984C>G (p.Pro328=) c.990C>G (p.Pro330=) c.702C>G (p.Pro234=) c.*2702C>G (n.*2702C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644840C>T | CA432819141 | BTD | c.924C>T (p.Pro308=) c.399+2783C>T (n.399+2783C>T) c.165+2783C>T (n.165+2783C>T) c.984C>T (p.Pro328=) c.990C>T (p.Pro330=) c.702C>T (p.Pro234=) c.*2702C>T (n.*2702C>T) | gnomAD v4 |
| 3 | g.15644841A>C | CA351607639 | BTD | c.925A>C (p.Lys309Gln) c.399+2784A>C (n.399+2784A>C) c.165+2784A>C (n.165+2784A>C) c.985A>C (p.Lys329Gln) c.991A>C (p.Lys331Gln) c.703A>C (p.Lys235Gln) c.*2703A>C (n.*2703A>C) | |
| 3 | g.15644841A>G | CA351607640 | BTD | c.925A>G (p.Lys309Glu) c.399+2784A>G (n.399+2784A>G) c.165+2784A>G (n.165+2784A>G) c.985A>G (p.Lys329Glu) c.991A>G (p.Lys331Glu) c.703A>G (p.Lys235Glu) c.*2703A>G (n.*2703A>G) | gnomAD v4 |
| 3 | g.15644841A>T | CA351607641 | BTD | c.925A>T (p.Lys309Ter) c.399+2784A>T (n.399+2784A>T) c.165+2784A>T (n.165+2784A>T) c.985A>T (p.Lys329Ter) c.991A>T (p.Lys331Ter) c.703A>T (p.Lys235Ter) c.*2703A>T (n.*2703A>T) | |
| 3 | g.15644842A>C | CA351607642 | BTD | c.926A>C (p.Lys309Thr) c.399+2785A>C (n.399+2785A>C) c.165+2785A>C (n.165+2785A>C) c.986A>C (p.Lys329Thr) c.992A>C (p.Lys331Thr) c.704A>C (p.Lys235Thr) c.*2704A>C (n.*2704A>C) | |
| 3 | g.15644842A>G | CA351607643 | BTD | c.926A>G (p.Lys309Arg) c.399+2785A>G (n.399+2785A>G) c.165+2785A>G (n.165+2785A>G) c.986A>G (p.Lys329Arg) c.992A>G (p.Lys331Arg) c.704A>G (p.Lys235Arg) c.*2704A>G (n.*2704A>G) | |
| 3 | g.15644842A>T | CA351607644 | BTD | c.926A>T (p.Lys309Ile) c.399+2785A>T (n.399+2785A>T) c.165+2785A>T (n.165+2785A>T) c.986A>T (p.Lys329Ile) c.992A>T (p.Lys331Ile) c.704A>T (p.Lys235Ile) c.*2704A>T (n.*2704A>T) | |
| 3 | g.15644843A>C | CA351607646 | BTD | c.927A>C (p.Lys309Asn) c.399+2786A>C (n.399+2786A>C) c.165+2786A>C (n.165+2786A>C) c.987A>C (p.Lys329Asn) c.993A>C (p.Lys331Asn) c.705A>C (p.Lys235Asn) c.*2705A>C (n.*2705A>C) | |
| 3 | g.15644843A>G | CA432819143 | BTD | c.927A>G (p.Lys309=) c.399+2786A>G (n.399+2786A>G) c.165+2786A>G (n.165+2786A>G) c.987A>G (p.Lys329=) c.993A>G (p.Lys331=) c.705A>G (p.Lys235=) c.*2705A>G (n.*2705A>G) | |
| 3 | g.15644843A>T | CA351607645 | BTD | c.927A>T (p.Lys309Asn) c.399+2786A>T (n.399+2786A>T) c.165+2786A>T (n.165+2786A>T) c.987A>T (p.Lys329Asn) c.993A>T (p.Lys331Asn) c.705A>T (p.Lys235Asn) c.*2705A>T (n.*2705A>T) | |
| 3 | g.15644844A= | CA1347664551 | BTD | c.928A= (p.Ser310=) c.399+2787A= (n.399+2787A=) c.165+2787A= (n.165+2787A=) c.988A= (p.Ser330=) c.994A= (p.Ser332=) c.706A= (p.Ser236=) c.*2706A= (n.*2706A=) | |
| 3 | g.15644844A>C | CA2277402 | BTD | c.928A>C (p.Ser310Arg) c.399+2787A>C (n.399+2787A>C) c.165+2787A>C (n.165+2787A>C) c.988A>C (p.Ser330Arg) c.994A>C (p.Ser332Arg) c.706A>C (p.Ser236Arg) c.*2706A>C (n.*2706A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644844A>G | CA351607651 | BTD | c.928A>G (p.Ser310Gly) c.399+2787A>G (n.399+2787A>G) c.165+2787A>G (n.165+2787A>G) c.988A>G (p.Ser330Gly) c.994A>G (p.Ser332Gly) c.706A>G (p.Ser236Gly) c.*2706A>G (n.*2706A>G) | |
| 3 | g.15644844A>T | CA351607650 | BTD | c.928A>T (p.Ser310Cys) c.399+2787A>T (n.399+2787A>T) c.165+2787A>T (n.165+2787A>T) c.988A>T (p.Ser330Cys) c.994A>T (p.Ser332Cys) c.706A>T (p.Ser236Cys) c.*2706A>T (n.*2706A>T) | |
| 3 | g.15644845G>A | CA351607654 | BTD | c.929G>A (p.Ser310Asn) c.399+2788G>A (n.399+2788G>A) c.165+2788G>A (n.165+2788G>A) c.989G>A (p.Ser330Asn) c.995G>A (p.Ser332Asn) c.707G>A (p.Ser236Asn) c.*2707G>A (n.*2707G>A) | |
| 3 | g.15644845G>C | CA2277403 | BTD | c.929G>C (p.Ser310Thr) c.399+2788G>C (n.399+2788G>C) c.165+2788G>C (n.165+2788G>C) c.989G>C (p.Ser330Thr) c.995G>C (p.Ser332Thr) c.707G>C (p.Ser236Thr) c.*2707G>C (n.*2707G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644845G= | CA1347664555 | BTD | c.929G= (p.Ser310=) c.399+2788G= (n.399+2788G=) c.165+2788G= (n.165+2788G=) c.989G= (p.Ser330=) c.995G= (p.Ser332=) c.707G= (p.Ser236=) c.*2707G= (n.*2707G=) | |
| 3 | g.15644845G>T | CA351607656 | BTD | c.929G>T (p.Ser310Ile) c.399+2788G>T (n.399+2788G>T) c.165+2788G>T (n.165+2788G>T) c.989G>T (p.Ser330Ile) c.995G>T (p.Ser332Ile) c.707G>T (p.Ser236Ile) c.*2707G>T (n.*2707G>T) | |
| 3 | g.15644846T>A | CA351607659 | BTD | c.930T>A (p.Ser310Arg) c.399+2789T>A (n.399+2789T>A) c.165+2789T>A (n.165+2789T>A) c.990T>A (p.Ser330Arg) c.996T>A (p.Ser332Arg) c.708T>A (p.Ser236Arg) c.*2708T>A (n.*2708T>A) | |
| 3 | g.15644846T>C | CA432819149 | BTD | c.930T>C (p.Ser310=) c.399+2789T>C (n.399+2789T>C) c.165+2789T>C (n.165+2789T>C) c.990T>C (p.Ser330=) c.996T>C (p.Ser332=) c.708T>C (p.Ser236=) c.*2708T>C (n.*2708T>C) | |
| 3 | g.15644846T>G | CA351607660 | BTD | c.930T>G (p.Ser310Arg) c.399+2789T>G (n.399+2789T>G) c.165+2789T>G (n.165+2789T>G) c.990T>G (p.Ser330Arg) c.996T>G (p.Ser332Arg) c.708T>G (p.Ser236Arg) c.*2708T>G (n.*2708T>G) | |
| 3 | g.15644847_15644857del | CA913102314 | BTD | c.931_941del (p.His311CysfsTer19) c.399+2790_399+2800del (n.399+2790_399+2800del) c.165+2790_165+2800del (n.165+2790_165+2800del) c.991_1001del (p.His331CysfsTer19) c.997_1007del (p.His333CysfsTer19) c.709_719del (p.His237CysfsTer19) c.*2709_*2719del (n.*2709_*2719del) | |
| 3 | g.15644847C>A | CA351607662 | BTD | c.931C>A (p.His311Asn) c.399+2790C>A (n.399+2790C>A) c.165+2790C>A (n.165+2790C>A) c.991C>A (p.His331Asn) c.997C>A (p.His333Asn) c.709C>A (p.His237Asn) c.*2709C>A (n.*2709C>A) | |
| 3 | g.15644847C>G | CA351607664 | BTD | c.931C>G (p.His311Asp) c.399+2790C>G (n.399+2790C>G) c.165+2790C>G (n.165+2790C>G) c.991C>G (p.His331Asp) c.997C>G (p.His333Asp) c.709C>G (p.His237Asp) c.*2709C>G (n.*2709C>G) | |
| 3 | g.15644847C>T | CA351607666 | BTD | c.931C>T (p.His311Tyr) c.399+2790C>T (n.399+2790C>T) c.165+2790C>T (n.165+2790C>T) c.991C>T (p.His331Tyr) c.997C>T (p.His333Tyr) c.709C>T (p.His237Tyr) c.*2709C>T (n.*2709C>T) | |
| 3 | g.15644847_15644857delinsCACCTTATAAT | CA1347664560 | BTD | c.931_941delinsCACCTTATAAT (p.His311=) c.399+2790_399+2800delinsCACCTTATAAT (n.399+2790_399+2800delinsCACCTTATAAT) c.165+2790_165+2800delinsCACCTTATAAT (n.165+2790_165+2800delinsCACCTTATAAT) c.991_1001delinsCACCTTATAAT (p.His331=) c.997_1007delinsCACCTTATAAT (p.His333=) c.709_719delinsCACCTTATAAT (p.His237=) c.*2709_*2719delinsCACCTTATAAT (n.*2709_*2719delinsCACCTTATAAT) | |
| 3 | g.15644848A= | CA1347664567 | BTD | c.932A= (p.His311=) c.399+2791A= (n.399+2791A=) c.165+2791A= (n.165+2791A=) c.992A= (p.His331=) c.998A= (p.His333=) c.710A= (p.His237=) c.*2710A= (n.*2710A=) | |
| 3 | g.15644848A>C | CA351607669 | BTD | c.932A>C (p.His311Pro) c.399+2791A>C (n.399+2791A>C) c.165+2791A>C (n.165+2791A>C) c.992A>C (p.His331Pro) c.998A>C (p.His333Pro) c.710A>C (p.His237Pro) c.*2710A>C (n.*2710A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644848A>G | CA351607670 | BTD | c.932A>G (p.His311Arg) c.399+2791A>G (n.399+2791A>G) c.165+2791A>G (n.165+2791A>G) c.992A>G (p.His331Arg) c.998A>G (p.His333Arg) c.710A>G (p.His237Arg) c.*2710A>G (n.*2710A>G) | dbSNP |
| 3 | g.15644848A>T | CA351607672 | BTD | c.932A>T (p.His311Leu) c.399+2791A>T (n.399+2791A>T) c.165+2791A>T (n.165+2791A>T) c.992A>T (p.His331Leu) c.998A>T (p.His333Leu) c.710A>T (p.His237Leu) c.*2710A>T (n.*2710A>T) | |
| 3 | g.15644848_15644857del | CA2277404 | BTD | c.932_941del (p.His311LeufsTer29) c.399+2791_399+2800del (n.399+2791_399+2800del) c.932_941del (p.His311LeufsTer?) c.165+2791_165+2800del (n.165+2791_165+2800del) c.992_1001del (p.His331LeufsTer29) c.998_1007del (p.His333LeufsTer29) c.710_719del (p.His237LeufsTer?) c.*2710_*2719del (n.*2710_*2719del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644849C>A | CA351607674 | BTD | c.933C>A (p.His311Gln) c.399+2792C>A (n.399+2792C>A) c.165+2792C>A (n.165+2792C>A) c.993C>A (p.His331Gln) c.999C>A (p.His333Gln) c.711C>A (p.His237Gln) c.*2711C>A (n.*2711C>A) | |
| 3 | g.15644849C>G | CA351607675 | BTD | c.933C>G (p.His311Gln) c.399+2792C>G (n.399+2792C>G) c.165+2792C>G (n.165+2792C>G) c.993C>G (p.His331Gln) c.999C>G (p.His333Gln) c.711C>G (p.His237Gln) c.*2711C>G (n.*2711C>G) | |
| 3 | g.15644849C>T | CA432819151 | BTD | c.933C>T (p.His311=) c.399+2792C>T (n.399+2792C>T) c.165+2792C>T (n.165+2792C>T) c.993C>T (p.His331=) c.999C>T (p.His333=) c.711C>T (p.His237=) c.*2711C>T (n.*2711C>T) | |
| 3 | g.15644850C>A | CA351607679 | BTD | c.934C>A (p.Leu312Ile) c.399+2793C>A (n.399+2793C>A) c.165+2793C>A (n.165+2793C>A) c.994C>A (p.Leu332Ile) c.1000C>A (p.Leu334Ile) c.712C>A (p.Leu238Ile) c.*2712C>A (n.*2712C>A) | |
| 3 | g.15644850C>G | CA351607680 | BTD | c.934C>G (p.Leu312Val) c.399+2793C>G (n.399+2793C>G) c.165+2793C>G (n.165+2793C>G) c.994C>G (p.Leu332Val) c.1000C>G (p.Leu334Val) c.712C>G (p.Leu238Val) c.*2712C>G (n.*2712C>G) | |
| 3 | g.15644850C>T | CA351607682 | BTD | c.934C>T (p.Leu312Phe) c.399+2793C>T (n.399+2793C>T) c.165+2793C>T (n.165+2793C>T) c.994C>T (p.Leu332Phe) c.1000C>T (p.Leu334Phe) c.712C>T (p.Leu238Phe) c.*2712C>T (n.*2712C>T) | |
| 3 | g.15644851T>A | CA351607684 | BTD | c.935T>A (p.Leu312His) c.399+2794T>A (n.399+2794T>A) c.165+2794T>A (n.165+2794T>A) c.995T>A (p.Leu332His) c.1001T>A (p.Leu334His) c.713T>A (p.Leu238His) c.*2713T>A (n.*2713T>A) | |
| 3 | g.15644851T>C | CA351607685 | BTD | c.935T>C (p.Leu312Pro) c.399+2794T>C (n.399+2794T>C) c.165+2794T>C (n.165+2794T>C) c.995T>C (p.Leu332Pro) c.1001T>C (p.Leu334Pro) c.713T>C (p.Leu238Pro) c.*2713T>C (n.*2713T>C) | |
| 3 | g.15644851T>G | CA351607687 | BTD | c.935T>G (p.Leu312Arg) c.399+2794T>G (n.399+2794T>G) c.165+2794T>G (n.165+2794T>G) c.995T>G (p.Leu332Arg) c.1001T>G (p.Leu334Arg) c.713T>G (p.Leu238Arg) c.*2713T>G (n.*2713T>G) | |
| 3 | g.15644852T>A | CA432819162 | BTD | c.936T>A (p.Leu312=) c.399+2795T>A (n.399+2795T>A) c.165+2795T>A (n.165+2795T>A) c.996T>A (p.Leu332=) c.1002T>A (p.Leu334=) c.714T>A (p.Leu238=) c.*2714T>A (n.*2714T>A) | |
| 3 | g.15644852T>C | CA432819163 | BTD | c.936T>C (p.Leu312=) c.399+2795T>C (n.399+2795T>C) c.165+2795T>C (n.165+2795T>C) c.996T>C (p.Leu332=) c.1002T>C (p.Leu334=) c.714T>C (p.Leu238=) c.*2714T>C (n.*2714T>C) | |
| 3 | g.15644852T>G | CA432819161 | BTD | c.936T>G (p.Leu312=) c.399+2795T>G (n.399+2795T>G) c.165+2795T>G (n.165+2795T>G) c.996T>G (p.Leu332=) c.1002T>G (p.Leu334=) c.714T>G (p.Leu238=) c.*2714T>G (n.*2714T>G) | |
| 3 | g.15644853A>C | CA351607690 | BTD | c.937A>C (p.Ile313Leu) c.399+2796A>C (n.399+2796A>C) c.165+2796A>C (n.165+2796A>C) c.997A>C (p.Ile333Leu) c.1003A>C (p.Ile335Leu) c.715A>C (p.Ile239Leu) c.*2715A>C (n.*2715A>C) | gnomAD v4 |
| 3 | g.15644853A>G | CA351607691 | BTD | c.937A>G (p.Ile313Val) c.399+2796A>G (n.399+2796A>G) c.165+2796A>G (n.165+2796A>G) c.997A>G (p.Ile333Val) c.1003A>G (p.Ile335Val) c.715A>G (p.Ile239Val) c.*2715A>G (n.*2715A>G) | |
| 3 | g.15644853A>T | CA351607694 | BTD | c.937A>T (p.Ile313Leu) c.399+2796A>T (n.399+2796A>T) c.165+2796A>T (n.165+2796A>T) c.997A>T (p.Ile333Leu) c.1003A>T (p.Ile335Leu) c.715A>T (p.Ile239Leu) c.*2715A>T (n.*2715A>T) | |
| 3 | g.15644854T>A | CA351607696 | BTD | c.938T>A (p.Ile313Lys) c.399+2797T>A (n.399+2797T>A) c.165+2797T>A (n.165+2797T>A) c.998T>A (p.Ile333Lys) c.1004T>A (p.Ile335Lys) c.716T>A (p.Ile239Lys) c.*2716T>A (n.*2716T>A) | |
| 3 | g.15644854T>C | CA351607698 | BTD | c.938T>C (p.Ile313Thr) c.399+2797T>C (n.399+2797T>C) c.165+2797T>C (n.165+2797T>C) c.998T>C (p.Ile333Thr) c.1004T>C (p.Ile335Thr) c.716T>C (p.Ile239Thr) c.*2716T>C (n.*2716T>C) | |
| 3 | g.15644854T>G | CA351607700 | BTD | c.938T>G (p.Ile313Arg) c.399+2797T>G (n.399+2797T>G) c.165+2797T>G (n.165+2797T>G) c.998T>G (p.Ile333Arg) c.1004T>G (p.Ile335Arg) c.716T>G (p.Ile239Arg) c.*2716T>G (n.*2716T>G) | |
| 3 | g.15644855A= | CA1347664571 | BTD | c.939A= (p.Ile313=) c.399+2798A= (n.399+2798A=) c.165+2798A= (n.165+2798A=) c.999A= (p.Ile333=) c.1005A= (p.Ile335=) c.717A= (p.Ile239=) c.*2717A= (n.*2717A=) | |
| 3 | g.15644855A>C | CA432819167 | BTD | c.939A>C (p.Ile313=) c.399+2798A>C (n.399+2798A>C) c.165+2798A>C (n.165+2798A>C) c.999A>C (p.Ile333=) c.1005A>C (p.Ile335=) c.717A>C (p.Ile239=) c.*2717A>C (n.*2717A>C) | |
| 3 | g.15644855A>G | CA351607702 | BTD | c.939A>G (p.Ile313Met) c.399+2798A>G (n.399+2798A>G) c.165+2798A>G (n.165+2798A>G) c.999A>G (p.Ile333Met) c.1005A>G (p.Ile335Met) c.717A>G (p.Ile239Met) c.*2717A>G (n.*2717A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644855A>T | CA432819168 | BTD | c.939A>T (p.Ile313=) c.399+2798A>T (n.399+2798A>T) c.165+2798A>T (n.165+2798A>T) c.999A>T (p.Ile333=) c.1005A>T (p.Ile335=) c.717A>T (p.Ile239=) c.*2717A>T (n.*2717A>T) | |
| 3 | g.15644856A= | CA1347664575 | BTD | c.940A= (p.Ile314=) c.399+2799A= (n.399+2799A=) c.165+2799A= (n.165+2799A=) c.1000A= (p.Ile334=) c.1006A= (p.Ile336=) c.718A= (p.Ile240=) c.*2718A= (n.*2718A=) | |
| 3 | g.15644856A>C | CA351607704 | BTD | c.940A>C (p.Ile314Leu) c.399+2799A>C (n.399+2799A>C) c.165+2799A>C (n.165+2799A>C) c.1000A>C (p.Ile334Leu) c.1006A>C (p.Ile336Leu) c.718A>C (p.Ile240Leu) c.*2718A>C (n.*2718A>C) | |
| 3 | g.15644856A>G | CA351607708 | BTD | c.940A>G (p.Ile314Val) c.399+2799A>G (n.399+2799A>G) c.165+2799A>G (n.165+2799A>G) c.1000A>G (p.Ile334Val) c.1006A>G (p.Ile336Val) c.718A>G (p.Ile240Val) c.*2718A>G (n.*2718A>G) | dbSNP |
| 3 | g.15644856A>T | CA351607706 | BTD | c.940A>T (p.Ile314Phe) c.399+2799A>T (n.399+2799A>T) c.165+2799A>T (n.165+2799A>T) c.1000A>T (p.Ile334Phe) c.1006A>T (p.Ile336Phe) c.718A>T (p.Ile240Phe) c.*2718A>T (n.*2718A>T) | |
| 3 | g.15644856_15644858del | CA913102315 | BTD | c.940_942del (p.Ile314del) c.399+2799_399+2801del (n.399+2799_399+2801del) c.165+2799_165+2801del (n.165+2799_165+2801del) c.1000_1002del (p.Ile334del) c.1006_1008del (p.Ile336del) c.718_720del (p.Ile240del) c.*2718_*2720del (n.*2718_*2720del) | |
| 3 | g.15644856_15644858delinsATT | CA1347664577 | BTD | c.940_942delinsATT (p.Ile314=) c.399+2799_399+2801delinsATT (n.399+2799_399+2801delinsATT) c.165+2799_165+2801delinsATT (n.165+2799_165+2801delinsATT) c.1000_1002delinsATT (p.Ile334=) c.1006_1008delinsATT (p.Ile336=) c.718_720delinsATT (p.Ile240=) c.*2718_*2720delinsATT (n.*2718_*2720delinsATT) | |
| 3 | g.15644857T>A | CA278368 | BTD | c.941T>A (p.Ile314Asn) c.399+2800T>A (n.399+2800T>A) c.165+2800T>A (n.165+2800T>A) c.1001T>A (p.Ile334Asn) c.1007T>A (p.Ile336Asn) c.719T>A (p.Ile240Asn) c.*2719T>A (n.*2719T>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644857T>C | CA351607711 | BTD | c.941T>C (p.Ile314Thr) c.399+2800T>C (n.399+2800T>C) c.165+2800T>C (n.165+2800T>C) c.1001T>C (p.Ile334Thr) c.1007T>C (p.Ile336Thr) c.719T>C (p.Ile240Thr) c.*2719T>C (n.*2719T>C) | |
| 3 | g.15644857T>G | CA351607713 | BTD | c.941T>G (p.Ile314Ser) c.399+2800T>G (n.399+2800T>G) c.165+2800T>G (n.165+2800T>G) c.1001T>G (p.Ile334Ser) c.1007T>G (p.Ile336Ser) c.719T>G (p.Ile240Ser) c.*2719T>G (n.*2719T>G) | |
| 3 | g.15644857T= | CA1347664587 | BTD | c.941T= (p.Ile314=) c.399+2800T= (n.399+2800T=) c.165+2800T= (n.165+2800T=) c.1001T= (p.Ile334=) c.1007T= (p.Ile336=) c.719T= (p.Ile240=) c.*2719T= (n.*2719T=) | |
| 3 | g.15644857_15644858del | CA2277405 | BTD | c.941_942del (p.Ile314SerfsTer19) c.399+2800_399+2801del (n.399+2800_399+2801del) c.165+2800_165+2801del (n.165+2800_165+2801del) c.1001_1002del (p.Ile334SerfsTer19) c.1007_1008del (p.Ile336SerfsTer19) c.719_720del (p.Ile240SerfsTer19) c.*2719_*2720del (n.*2719_*2720del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644858T>A | CA432819173 | BTD | c.942T>A (p.Ile314=) c.399+2801T>A (n.399+2801T>A) c.165+2801T>A (n.165+2801T>A) c.1002T>A (p.Ile334=) c.1008T>A (p.Ile336=) c.720T>A (p.Ile240=) c.*2720T>A (n.*2720T>A) | |
| 3 | g.15644858T>C | CA432819174 | BTD | c.942T>C (p.Ile314=) c.399+2801T>C (n.399+2801T>C) c.165+2801T>C (n.165+2801T>C) c.1002T>C (p.Ile334=) c.1008T>C (p.Ile336=) c.720T>C (p.Ile240=) c.*2720T>C (n.*2720T>C) | |
| 3 | g.15644858T>G | CA351607715 | BTD | c.942T>G (p.Ile314Met) c.399+2801T>G (n.399+2801T>G) c.165+2801T>G (n.165+2801T>G) c.1002T>G (p.Ile334Met) c.1008T>G (p.Ile336Met) c.720T>G (p.Ile240Met) c.*2720T>G (n.*2720T>G) | |
| 3 | g.15644859G>A | CA351607717 | BTD | c.943G>A (p.Ala315Thr) c.399+2802G>A (n.399+2802G>A) c.165+2802G>A (n.165+2802G>A) c.1003G>A (p.Ala335Thr) c.1009G>A (p.Ala337Thr) c.721G>A (p.Ala241Thr) c.*2721G>A (n.*2721G>A) | |
| 3 | g.15644859G>C | CA351607719 | BTD | c.943G>C (p.Ala315Pro) c.399+2802G>C (n.399+2802G>C) c.165+2802G>C (n.165+2802G>C) c.1003G>C (p.Ala335Pro) c.1009G>C (p.Ala337Pro) c.721G>C (p.Ala241Pro) c.*2721G>C (n.*2721G>C) | |
| 3 | g.15644859G>T | CA351607721 | BTD | c.943G>T (p.Ala315Ser) c.399+2802G>T (n.399+2802G>T) c.165+2802G>T (n.165+2802G>T) c.1003G>T (p.Ala335Ser) c.1009G>T (p.Ala337Ser) c.721G>T (p.Ala241Ser) c.*2721G>T (n.*2721G>T) | |
| 3 | g.15644860C>A | CA351607723 | BTD | c.944C>A (p.Ala315Asp) c.399+2803C>A (n.399+2803C>A) c.165+2803C>A (n.165+2803C>A) c.1004C>A (p.Ala335Asp) c.1010C>A (p.Ala337Asp) c.722C>A (p.Ala241Asp) c.*2722C>A (n.*2722C>A) | |
| 3 | g.15644860C= | CA1347664590 | BTD | c.944C= (p.Ala315=) c.399+2803C= (n.399+2803C=) c.165+2803C= (n.165+2803C=) c.1004C= (p.Ala335=) c.1010C= (p.Ala337=) c.722C= (p.Ala241=) c.*2722C= (n.*2722C=) | |
| 3 | g.15644860C>G | CA351607725 | BTD | c.944C>G (p.Ala315Gly) c.399+2803C>G (n.399+2803C>G) c.165+2803C>G (n.165+2803C>G) c.1004C>G (p.Ala335Gly) c.1010C>G (p.Ala337Gly) c.722C>G (p.Ala241Gly) c.*2722C>G (n.*2722C>G) | |
| 3 | g.15644860C>T | CA351607727 | BTD | c.944C>T (p.Ala315Val) c.399+2803C>T (n.399+2803C>T) c.165+2803C>T (n.165+2803C>T) c.1004C>T (p.Ala335Val) c.1010C>T (p.Ala337Val) c.722C>T (p.Ala241Val) c.*2722C>T (n.*2722C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644861C>A | CA432819179 | BTD | c.945C>A (p.Ala315=) c.399+2804C>A (n.399+2804C>A) c.165+2804C>A (n.165+2804C>A) c.1005C>A (p.Ala335=) c.1011C>A (p.Ala337=) c.723C>A (p.Ala241=) c.*2723C>A (n.*2723C>A) | |
| 3 | g.15644861C>G | CA432819180 | BTD | c.945C>G (p.Ala315=) c.399+2804C>G (n.399+2804C>G) c.165+2804C>G (n.165+2804C>G) c.1005C>G (p.Ala335=) c.1011C>G (p.Ala337=) c.723C>G (p.Ala241=) c.*2723C>G (n.*2723C>G) | gnomAD v4 |
| 3 | g.15644861C>T | CA432819182 | BTD | c.945C>T (p.Ala315=) c.399+2804C>T (n.399+2804C>T) c.165+2804C>T (n.165+2804C>T) c.1005C>T (p.Ala335=) c.1011C>T (p.Ala337=) c.723C>T (p.Ala241=) c.*2723C>T (n.*2723C>T) | |
| 3 | g.15644862C>A | CA351607729 | BTD | c.946C>A (p.Gln316Lys) c.399+2805C>A (n.399+2805C>A) c.165+2805C>A (n.165+2805C>A) c.1006C>A (p.Gln336Lys) c.1012C>A (p.Gln338Lys) c.724C>A (p.Gln242Lys) c.*2724C>A (n.*2724C>A) | |
| 3 | g.15644862C= | CA1347664592 | BTD | c.946C= (p.Gln316=) c.399+2805C= (n.399+2805C=) c.165+2805C= (n.165+2805C=) c.1006C= (p.Gln336=) c.1012C= (p.Gln338=) c.724C= (p.Gln242=) c.*2724C= (n.*2724C=) | |
| 3 | g.15644862C>G | CA351607731 | BTD | c.946C>G (p.Gln316Glu) c.399+2805C>G (n.399+2805C>G) c.165+2805C>G (n.165+2805C>G) c.1006C>G (p.Gln336Glu) c.1012C>G (p.Gln338Glu) c.724C>G (p.Gln242Glu) c.*2724C>G (n.*2724C>G) | |
| 3 | g.15644862C>T | CA351607733 | BTD | c.946C>T (p.Gln316Ter) c.399+2805C>T (n.399+2805C>T) c.165+2805C>T (n.165+2805C>T) c.1006C>T (p.Gln336Ter) c.1012C>T (p.Gln338Ter) c.724C>T (p.Gln242Ter) c.*2724C>T (n.*2724C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644863A= | CA1347664596 | BTD | c.947A= (p.Gln316=) c.399+2806A= (n.399+2806A=) c.165+2806A= (n.165+2806A=) c.1007A= (p.Gln336=) c.1013A= (p.Gln338=) c.725A= (p.Gln242=) c.*2725A= (n.*2725A=) | |
| 3 | g.15644863A>C | CA351607738 | BTD | c.947A>C (p.Gln316Pro) c.399+2806A>C (n.399+2806A>C) c.165+2806A>C (n.165+2806A>C) c.1007A>C (p.Gln336Pro) c.1013A>C (p.Gln338Pro) c.725A>C (p.Gln242Pro) c.*2725A>C (n.*2725A>C) | |
| 3 | g.15644863A>G | CA2277406 | BTD | c.947A>G (p.Gln316Arg) c.399+2806A>G (n.399+2806A>G) c.165+2806A>G (n.165+2806A>G) c.1007A>G (p.Gln336Arg) c.1013A>G (p.Gln338Arg) c.725A>G (p.Gln242Arg) c.*2725A>G (n.*2725A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644863A>T | CA351607736 | BTD | c.947A>T (p.Gln316Leu) c.399+2806A>T (n.399+2806A>T) c.165+2806A>T (n.165+2806A>T) c.1007A>T (p.Gln336Leu) c.1013A>T (p.Gln338Leu) c.725A>T (p.Gln242Leu) c.*2725A>T (n.*2725A>T) | |
| 3 | g.15644864G>A | CA432819188 | BTD | c.948G>A (p.Gln316=) c.399+2807G>A (n.399+2807G>A) c.165+2807G>A (n.165+2807G>A) c.1008G>A (p.Gln336=) c.1014G>A (p.Gln338=) c.726G>A (p.Gln242=) c.*2726G>A (n.*2726G>A) | |
| 3 | g.15644864G>C | CA351607740 | BTD | c.948G>C (p.Gln316His) c.399+2807G>C (n.399+2807G>C) c.165+2807G>C (n.165+2807G>C) c.1008G>C (p.Gln336His) c.1014G>C (p.Gln338His) c.726G>C (p.Gln242His) c.*2726G>C (n.*2726G>C) | |
| 3 | g.15644864G>T | CA351607742 | BTD | c.948G>T (p.Gln316His) c.399+2807G>T (n.399+2807G>T) c.165+2807G>T (n.165+2807G>T) c.1008G>T (p.Gln336His) c.1014G>T (p.Gln338His) c.726G>T (p.Gln242His) c.*2726G>T (n.*2726G>T) | |
| 3 | g.15644865G>A | CA351607744 | BTD | c.949G>A (p.Val317Met) c.399+2808G>A (n.399+2808G>A) c.165+2808G>A (n.165+2808G>A) c.1009G>A (p.Val337Met) c.1015G>A (p.Val339Met) c.727G>A (p.Val243Met) c.*2727G>A (n.*2727G>A) | dbSNP |
| 3 | g.15644865G>C | CA351607746 | BTD | c.949G>C (p.Val317Leu) c.399+2808G>C (n.399+2808G>C) c.165+2808G>C (n.165+2808G>C) c.1009G>C (p.Val337Leu) c.1015G>C (p.Val339Leu) c.727G>C (p.Val243Leu) c.*2727G>C (n.*2727G>C) | |
| 3 | g.15644865G= | CA1347664599 | BTD | c.949G= (p.Val317=) c.399+2808G= (n.399+2808G=) c.165+2808G= (n.165+2808G=) c.1009G= (p.Val337=) c.1015G= (p.Val339=) c.727G= (p.Val243=) c.*2727G= (n.*2727G=) | |
| 3 | g.15644865G>T | CA351607748 | BTD | c.949G>T (p.Val317Leu) c.399+2808G>T (n.399+2808G>T) c.165+2808G>T (n.165+2808G>T) c.1009G>T (p.Val337Leu) c.1015G>T (p.Val339Leu) c.727G>T (p.Val243Leu) c.*2727G>T (n.*2727G>T) | gnomAD v4 |
| 3 | g.15644866del | CA2573136197 | BTD | c.950del (p.Val317GlyfsTer26) c.399+2809del (n.399+2809del) c.950del (p.Val317GlyfsTer?) c.165+2809del (n.165+2809del) c.1010del (p.Val337GlyfsTer26) c.1016del (p.Val339GlyfsTer26) c.728del (p.Val243GlyfsTer?) c.*2728del (n.*2728del) | ClinVar dbSNP |
| 3 | g.15644866T>A | CA351607750 | BTD | c.950T>A (p.Val317Glu) c.399+2809T>A (n.399+2809T>A) c.165+2809T>A (n.165+2809T>A) c.1010T>A (p.Val337Glu) c.1016T>A (p.Val339Glu) c.728T>A (p.Val243Glu) c.*2728T>A (n.*2728T>A) | |
| 3 | g.15644866T>C | CA351607752 | BTD | c.950T>C (p.Val317Ala) c.399+2809T>C (n.399+2809T>C) c.165+2809T>C (n.165+2809T>C) c.1010T>C (p.Val337Ala) c.1016T>C (p.Val339Ala) c.728T>C (p.Val243Ala) c.*2728T>C (n.*2728T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644866T>G | CA351607754 | BTD | c.950T>G (p.Val317Gly) c.399+2809T>G (n.399+2809T>G) c.165+2809T>G (n.165+2809T>G) c.1010T>G (p.Val337Gly) c.1016T>G (p.Val339Gly) c.728T>G (p.Val243Gly) c.*2728T>G (n.*2728T>G) | |
| 3 | g.15644866T= | CA1347664603 | BTD | c.950T= (p.Val317=) c.399+2809T= (n.399+2809T=) c.165+2809T= (n.165+2809T=) c.1010T= (p.Val337=) c.1016T= (p.Val339=) c.728T= (p.Val243=) c.*2728T= (n.*2728T=) | |
| 3 | g.15644867G>A | CA432819194 | BTD | c.951G>A (p.Val317=) c.399+2810G>A (n.399+2810G>A) c.165+2810G>A (n.165+2810G>A) c.1011G>A (p.Val337=) c.1017G>A (p.Val339=) c.729G>A (p.Val243=) c.*2729G>A (n.*2729G>A) | |
| 3 | g.15644867G>C | CA432819195 | BTD | c.951G>C (p.Val317=) c.399+2810G>C (n.399+2810G>C) c.165+2810G>C (n.165+2810G>C) c.1011G>C (p.Val337=) c.1017G>C (p.Val339=) c.729G>C (p.Val243=) c.*2729G>C (n.*2729G>C) | |
| 3 | g.15644867G>T | CA432819196 | BTD | c.951G>T (p.Val317=) c.399+2810G>T (n.399+2810G>T) c.165+2810G>T (n.165+2810G>T) c.1011G>T (p.Val337=) c.1017G>T (p.Val339=) c.729G>T (p.Val243=) c.*2729G>T (n.*2729G>T) | |
| 3 | g.15644868G>A | CA351607756 | BTD | c.952G>A (p.Ala318Thr) c.399+2811G>A (n.399+2811G>A) c.165+2811G>A (n.165+2811G>A) c.1012G>A (p.Ala338Thr) c.1018G>A (p.Ala340Thr) c.730G>A (p.Ala244Thr) c.*2730G>A (n.*2730G>A) | |
| 3 | g.15644868G>C | CA351607757 | BTD | c.952G>C (p.Ala318Pro) c.399+2811G>C (n.399+2811G>C) c.165+2811G>C (n.165+2811G>C) c.1012G>C (p.Ala338Pro) c.1018G>C (p.Ala340Pro) c.730G>C (p.Ala244Pro) c.*2730G>C (n.*2730G>C) | |
| 3 | g.15644868G= | CA1347664605 | BTD | c.952G= (p.Ala318=) c.399+2811G= (n.399+2811G=) c.165+2811G= (n.165+2811G=) c.1012G= (p.Ala338=) c.1018G= (p.Ala340=) c.730G= (p.Ala244=) c.*2730G= (n.*2730G=) | |
| 3 | g.15644868G>T | CA351607759 | BTD | c.952G>T (p.Ala318Ser) c.399+2811G>T (n.399+2811G>T) c.165+2811G>T (n.165+2811G>T) c.1012G>T (p.Ala338Ser) c.1018G>T (p.Ala340Ser) c.730G>T (p.Ala244Ser) c.*2730G>T (n.*2730G>T) | dbSNP |
| 3 | g.15644869C>A | CA351607763 | BTD | c.953C>A (p.Ala318Asp) c.399+2812C>A (n.399+2812C>A) c.165+2812C>A (n.165+2812C>A) c.1013C>A (p.Ala338Asp) c.1019C>A (p.Ala340Asp) c.731C>A (p.Ala244Asp) c.*2731C>A (n.*2731C>A) | |
| 3 | g.15644869C>G | CA351607765 | BTD | c.953C>G (p.Ala318Gly) c.399+2812C>G (n.399+2812C>G) c.165+2812C>G (n.165+2812C>G) c.1013C>G (p.Ala338Gly) c.1019C>G (p.Ala340Gly) c.731C>G (p.Ala244Gly) c.*2731C>G (n.*2731C>G) | |
| 3 | g.15644869C>T | CA351607761 | BTD | c.953C>T (p.Ala318Val) c.399+2812C>T (n.399+2812C>T) c.165+2812C>T (n.165+2812C>T) c.1013C>T (p.Ala338Val) c.1019C>T (p.Ala340Val) c.731C>T (p.Ala244Val) c.*2731C>T (n.*2731C>T) | |
| 3 | g.15644870C>A | CA432819203 | BTD | c.954C>A (p.Ala318=) c.399+2813C>A (n.399+2813C>A) c.165+2813C>A (n.165+2813C>A) c.1014C>A (p.Ala338=) c.1020C>A (p.Ala340=) c.732C>A (p.Ala244=) c.*2732C>A (n.*2732C>A) | |
| 3 | g.15644870C>G | CA432819200 | BTD | c.954C>G (p.Ala318=) c.399+2813C>G (n.399+2813C>G) c.165+2813C>G (n.165+2813C>G) c.1014C>G (p.Ala338=) c.1020C>G (p.Ala340=) c.732C>G (p.Ala244=) c.*2732C>G (n.*2732C>G) | |
| 3 | g.15644870C>T | CA432819202 | BTD | c.954C>T (p.Ala318=) c.399+2813C>T (n.399+2813C>T) c.165+2813C>T (n.165+2813C>T) c.1014C>T (p.Ala338=) c.1020C>T (p.Ala340=) c.732C>T (p.Ala244=) c.*2732C>T (n.*2732C>T) | |
| 3 | g.15644871A>C | CA351607767 | BTD | c.955A>C (p.Lys319Gln) c.399+2814A>C (n.399+2814A>C) c.165+2814A>C (n.165+2814A>C) c.1015A>C (p.Lys339Gln) c.1021A>C (p.Lys341Gln) c.733A>C (p.Lys245Gln) c.*2733A>C (n.*2733A>C) | |
| 3 | g.15644871A>G | CA351607769 | BTD | c.955A>G (p.Lys319Glu) c.399+2814A>G (n.399+2814A>G) c.165+2814A>G (n.165+2814A>G) c.1015A>G (p.Lys339Glu) c.1021A>G (p.Lys341Glu) c.733A>G (p.Lys245Glu) c.*2733A>G (n.*2733A>G) | |
| 3 | g.15644871A>T | CA351607771 | BTD | c.955A>T (p.Lys319Ter) c.399+2814A>T (n.399+2814A>T) c.165+2814A>T (n.165+2814A>T) c.1015A>T (p.Lys339Ter) c.1021A>T (p.Lys341Ter) c.733A>T (p.Lys245Ter) c.*2733A>T (n.*2733A>T) | |
| 3 | g.15644872A>C | CA351607773 | BTD | c.956A>C (p.Lys319Thr) c.399+2815A>C (n.399+2815A>C) c.165+2815A>C (n.165+2815A>C) c.1016A>C (p.Lys339Thr) c.1022A>C (p.Lys341Thr) c.734A>C (p.Lys245Thr) c.*2734A>C (n.*2734A>C) | |
| 3 | g.15644872A>G | CA351607775 | BTD | c.956A>G (p.Lys319Arg) c.399+2815A>G (n.399+2815A>G) c.165+2815A>G (n.165+2815A>G) c.1016A>G (p.Lys339Arg) c.1022A>G (p.Lys341Arg) c.734A>G (p.Lys245Arg) c.*2734A>G (n.*2734A>G) | |
| 3 | g.15644872A>T | CA351607777 | BTD | c.956A>T (p.Lys319Ile) c.399+2815A>T (n.399+2815A>T) c.165+2815A>T (n.165+2815A>T) c.1016A>T (p.Lys339Ile) c.1022A>T (p.Lys341Ile) c.734A>T (p.Lys245Ile) c.*2734A>T (n.*2734A>T) | |
| 3 | g.15644873A>C | CA351607781 | BTD | c.957A>C (p.Lys319Asn) c.399+2816A>C (n.399+2816A>C) c.165+2816A>C (n.165+2816A>C) c.1017A>C (p.Lys339Asn) c.1023A>C (p.Lys341Asn) c.735A>C (p.Lys245Asn) c.*2735A>C (n.*2735A>C) | dbSNP |
| 3 | g.15644873A>G | CA432819205 | BTD | c.957A>G (p.Lys319=) c.399+2816A>G (n.399+2816A>G) c.165+2816A>G (n.165+2816A>G) c.1017A>G (p.Lys339=) c.1023A>G (p.Lys341=) c.735A>G (p.Lys245=) c.*2735A>G (n.*2735A>G) | |
| 3 | g.15644873A>T | CA351607779 | BTD | c.957A>T (p.Lys319Asn) c.399+2816A>T (n.399+2816A>T) c.165+2816A>T (n.165+2816A>T) c.1017A>T (p.Lys339Asn) c.1023A>T (p.Lys341Asn) c.735A>T (p.Lys245Asn) c.*2735A>T (n.*2735A>T) | |
| 3 | g.15644874A>C | CA351607782 | BTD | c.958A>C (p.Asn320His) c.399+2817A>C (n.399+2817A>C) c.165+2817A>C (n.165+2817A>C) c.1018A>C (p.Asn340His) c.1024A>C (p.Asn342His) c.736A>C (p.Asn246His) c.*2736A>C (n.*2736A>C) | |
| 3 | g.15644874A>G | CA351607784 | BTD | c.958A>G (p.Asn320Asp) c.399+2817A>G (n.399+2817A>G) c.165+2817A>G (n.165+2817A>G) c.1018A>G (p.Asn340Asp) c.1024A>G (p.Asn342Asp) c.736A>G (p.Asn246Asp) c.*2736A>G (n.*2736A>G) | |
| 3 | g.15644874A>T | CA351607786 | BTD | c.958A>T (p.Asn320Tyr) c.399+2817A>T (n.399+2817A>T) c.165+2817A>T (n.165+2817A>T) c.1018A>T (p.Asn340Tyr) c.1024A>T (p.Asn342Tyr) c.736A>T (p.Asn246Tyr) c.*2736A>T (n.*2736A>T) | |
| 3 | g.15644875A>C | CA351607788 | BTD | c.959A>C (p.Asn320Thr) c.399+2818A>C (n.399+2818A>C) c.165+2818A>C (n.165+2818A>C) c.1019A>C (p.Asn340Thr) c.1025A>C (p.Asn342Thr) c.737A>C (p.Asn246Thr) c.*2737A>C (n.*2737A>C) | |
| 3 | g.15644875A>G | CA351607790 | BTD | c.959A>G (p.Asn320Ser) c.399+2818A>G (n.399+2818A>G) c.165+2818A>G (n.165+2818A>G) c.1019A>G (p.Asn340Ser) c.1025A>G (p.Asn342Ser) c.737A>G (p.Asn246Ser) c.*2737A>G (n.*2737A>G) | |
| 3 | g.15644875A>T | CA351607791 | BTD | c.959A>T (p.Asn320Ile) c.399+2818A>T (n.399+2818A>T) c.165+2818A>T (n.165+2818A>T) c.1019A>T (p.Asn340Ile) c.1025A>T (p.Asn342Ile) c.737A>T (p.Asn246Ile) c.*2737A>T (n.*2737A>T) | |
| 3 | g.15644876T>A | CA351607792 | BTD | c.960T>A (p.Asn320Lys) c.399+2819T>A (n.399+2819T>A) c.165+2819T>A (n.165+2819T>A) c.1020T>A (p.Asn340Lys) c.1026T>A (p.Asn342Lys) c.738T>A (p.Asn246Lys) c.*2738T>A (n.*2738T>A) | |
| 3 | g.15644876T>C | CA70622401 | BTD | c.960T>C (p.Asn320=) c.399+2819T>C (n.399+2819T>C) c.165+2819T>C (n.165+2819T>C) c.1020T>C (p.Asn340=) c.1026T>C (p.Asn342=) c.738T>C (p.Asn246=) c.*2738T>C (n.*2738T>C) | dbSNP |
| 3 | g.15644876T>G | CA351607793 | BTD | c.960T>G (p.Asn320Lys) c.399+2819T>G (n.399+2819T>G) c.165+2819T>G (n.165+2819T>G) c.1020T>G (p.Asn340Lys) c.1026T>G (p.Asn342Lys) c.738T>G (p.Asn246Lys) c.*2738T>G (n.*2738T>G) | |
| 3 | g.15644876T= | CA1347664607 | BTD | c.960T= (p.Asn320=) c.399+2819T= (n.399+2819T=) c.165+2819T= (n.165+2819T=) c.1020T= (p.Asn340=) c.1026T= (p.Asn342=) c.738T= (p.Asn246=) c.*2738T= (n.*2738T=) | |
| 3 | g.15644877C>A | CA351607796 | BTD | c.961C>A (p.Pro321Thr) c.399+2820C>A (n.399+2820C>A) c.165+2820C>A (n.165+2820C>A) c.1021C>A (p.Pro341Thr) c.1027C>A (p.Pro343Thr) c.739C>A (p.Pro247Thr) c.*2739C>A (n.*2739C>A) | |
| 3 | g.15644877C= | CA1347664612 | BTD | c.961C= (p.Pro321=) c.399+2820C= (n.399+2820C=) c.165+2820C= (n.165+2820C=) c.1021C= (p.Pro341=) c.1027C= (p.Pro343=) c.739C= (p.Pro247=) c.*2739C= (n.*2739C=) | |
| 3 | g.15644877C>G | CA351607798 | BTD | c.961C>G (p.Pro321Ala) c.399+2820C>G (n.399+2820C>G) c.165+2820C>G (n.165+2820C>G) c.1021C>G (p.Pro341Ala) c.1027C>G (p.Pro343Ala) c.739C>G (p.Pro247Ala) c.*2739C>G (n.*2739C>G) | dbSNP gnomAD v4 |
| 3 | g.15644877C>T | CA351607800 | BTD | c.961C>T (p.Pro321Ser) c.399+2820C>T (n.399+2820C>T) c.165+2820C>T (n.165+2820C>T) c.1021C>T (p.Pro341Ser) c.1027C>T (p.Pro343Ser) c.739C>T (p.Pro247Ser) c.*2739C>T (n.*2739C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644878C>A | CA351607803 | BTD | c.962C>A (p.Pro321Gln) c.399+2821C>A (n.399+2821C>A) c.165+2821C>A (n.165+2821C>A) c.1022C>A (p.Pro341Gln) c.1028C>A (p.Pro343Gln) c.740C>A (p.Pro247Gln) c.*2740C>A (n.*2740C>A) | |
| 3 | g.15644878C>G | CA351607804 | BTD | c.962C>G (p.Pro321Arg) c.399+2821C>G (n.399+2821C>G) c.165+2821C>G (n.165+2821C>G) c.1022C>G (p.Pro341Arg) c.1028C>G (p.Pro343Arg) c.740C>G (p.Pro247Arg) c.*2740C>G (n.*2740C>G) | |
| 3 | g.15644878C>T | CA351607806 | BTD | c.962C>T (p.Pro321Leu) c.399+2821C>T (n.399+2821C>T) c.165+2821C>T (n.165+2821C>T) c.1022C>T (p.Pro341Leu) c.1028C>T (p.Pro343Leu) c.740C>T (p.Pro247Leu) c.*2740C>T (n.*2740C>T) | ClinVar |
| 3 | g.15644878_15644879delinsCA | CA1347664614 | BTD | c.962_963delinsCA (p.Pro321=) c.399+2821_399+2822delinsCA (n.399+2821_399+2822delinsCA) c.165+2821_165+2822delinsCA (n.165+2821_165+2822delinsCA) c.1022_1023delinsCA (p.Pro341=) c.1028_1029delinsCA (p.Pro343=) c.740_741delinsCA (p.Pro247=) c.*2740_*2741delinsCA (n.*2740_*2741delinsCA) | |
| 3 | g.15644879del | CA1347664617 | BTD | c.963del (p.Val322TrpfsTer21) c.399+2822del (n.399+2822del) c.963del (p.Val322TrpfsTer26) c.165+2822del (n.165+2822del) c.1023del (p.Val342TrpfsTer21) c.1029del (p.Val344TrpfsTer21) c.963del (p.Val322TrpfsTer?) c.741del (p.Val248TrpfsTer26) c.*2741del (n.*2741del) | dbSNP |
| 3 | g.15644879A= | CA1347664618 | BTD | c.963A= (p.Pro321=) c.399+2822A= (n.399+2822A=) c.165+2822A= (n.165+2822A=) c.1023A= (p.Pro341=) c.1029A= (p.Pro343=) c.741A= (p.Pro247=) c.*2741A= (n.*2741A=) | |
| 3 | g.15644879A>C | CA432819209 | BTD | c.963A>C (p.Pro321=) c.399+2822A>C (n.399+2822A>C) c.165+2822A>C (n.165+2822A>C) c.1023A>C (p.Pro341=) c.1029A>C (p.Pro343=) c.741A>C (p.Pro247=) c.*2741A>C (n.*2741A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644879A>G | CA432819210 | BTD | c.963A>G (p.Pro321=) c.399+2822A>G (n.399+2822A>G) c.165+2822A>G (n.165+2822A>G) c.1023A>G (p.Pro341=) c.1029A>G (p.Pro343=) c.741A>G (p.Pro247=) c.*2741A>G (n.*2741A>G) | dbSNP gnomAD v4 |
| 3 | g.15644879A>T | CA432819211 | BTD | c.963A>T (p.Pro321=) c.399+2822A>T (n.399+2822A>T) c.165+2822A>T (n.165+2822A>T) c.1023A>T (p.Pro341=) c.1029A>T (p.Pro343=) c.741A>T (p.Pro247=) c.*2741A>T (n.*2741A>T) | ClinVar dbSNP |
| 3 | g.15644880G>A | CA351607808 | BTD | c.964G>A (p.Val322Met) c.399+2823G>A (n.399+2823G>A) c.165+2823G>A (n.165+2823G>A) c.1024G>A (p.Val342Met) c.1030G>A (p.Val344Met) c.742G>A (p.Val248Met) c.*2742G>A (n.*2742G>A) | |
| 3 | g.15644880G>C | CA351607809 | BTD | c.964G>C (p.Val322Leu) c.399+2823G>C (n.399+2823G>C) c.165+2823G>C (n.165+2823G>C) c.1024G>C (p.Val342Leu) c.1030G>C (p.Val344Leu) c.742G>C (p.Val248Leu) c.*2742G>C (n.*2742G>C) | |
| 3 | g.15644880G>T | CA351607811 | BTD | c.964G>T (p.Val322Leu) c.399+2823G>T (n.399+2823G>T) c.165+2823G>T (n.165+2823G>T) c.1024G>T (p.Val342Leu) c.1030G>T (p.Val344Leu) c.742G>T (p.Val248Leu) c.*2742G>T (n.*2742G>T) | |
| 3 | g.15644881T>A | CA351607813 | BTD | c.965T>A (p.Val322Glu) c.399+2824T>A (n.399+2824T>A) c.165+2824T>A (n.165+2824T>A) c.1025T>A (p.Val342Glu) c.1031T>A (p.Val344Glu) c.743T>A (p.Val248Glu) c.*2743T>A (n.*2743T>A) | |
| 3 | g.15644881T>C | CA2277407 | BTD | c.965T>C (p.Val322Ala) c.399+2824T>C (n.399+2824T>C) c.165+2824T>C (n.165+2824T>C) c.1025T>C (p.Val342Ala) c.1031T>C (p.Val344Ala) c.743T>C (p.Val248Ala) c.*2743T>C (n.*2743T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.15644881T>G | CA351607816 | BTD | c.965T>G (p.Val322Gly) c.399+2824T>G (n.399+2824T>G) c.165+2824T>G (n.165+2824T>G) c.1025T>G (p.Val342Gly) c.1031T>G (p.Val344Gly) c.743T>G (p.Val248Gly) c.*2743T>G (n.*2743T>G) | |
| 3 | g.15644881T= | CA1347664620 | BTD | c.965T= (p.Val322=) c.399+2824T= (n.399+2824T=) c.165+2824T= (n.165+2824T=) c.1025T= (p.Val342=) c.1031T= (p.Val344=) c.743T= (p.Val248=) c.*2743T= (n.*2743T=) | |
| 3 | g.15644882G>A | CA432819215 | BTD | c.966G>A (p.Val322=) c.399+2825G>A (n.399+2825G>A) c.165+2825G>A (n.165+2825G>A) c.1026G>A (p.Val342=) c.1032G>A (p.Val344=) c.744G>A (p.Val248=) c.*2744G>A (n.*2744G>A) | |
| 3 | g.15644882G>C | CA432819216 | BTD | c.966G>C (p.Val322=) c.399+2825G>C (n.399+2825G>C) c.165+2825G>C (n.165+2825G>C) c.1026G>C (p.Val342=) c.1032G>C (p.Val344=) c.744G>C (p.Val248=) c.*2744G>C (n.*2744G>C) | |
| 3 | g.15644882G>T | CA432819217 | BTD | c.966G>T (p.Val322=) c.399+2825G>T (n.399+2825G>T) c.165+2825G>T (n.165+2825G>T) c.1026G>T (p.Val342=) c.1032G>T (p.Val344=) c.744G>T (p.Val248=) c.*2744G>T (n.*2744G>T) | |
| 3 | g.15644883G>A | CA351607819 | BTD | c.967G>A (p.Gly323Ser) c.399+2826G>A (n.399+2826G>A) c.165+2826G>A (n.165+2826G>A) c.1027G>A (p.Gly343Ser) c.1033G>A (p.Gly345Ser) c.745G>A (p.Gly249Ser) c.*2745G>A (n.*2745G>A) | gnomAD v4 |
| 3 | g.15644883G>C | CA2277408 | BTD | c.967G>C (p.Gly323Arg) c.399+2826G>C (n.399+2826G>C) c.165+2826G>C (n.165+2826G>C) c.1027G>C (p.Gly343Arg) c.1033G>C (p.Gly345Arg) c.745G>C (p.Gly249Arg) c.*2745G>C (n.*2745G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644883G= | CA1347664624 | BTD | c.967G= (p.Gly323=) c.399+2826G= (n.399+2826G=) c.165+2826G= (n.165+2826G=) c.1027G= (p.Gly343=) c.1033G= (p.Gly345=) c.745G= (p.Gly249=) c.*2745G= (n.*2745G=) | |
| 3 | g.15644883G>T | CA351607821 | BTD | c.967G>T (p.Gly323Cys) c.399+2826G>T (n.399+2826G>T) c.165+2826G>T (n.165+2826G>T) c.1027G>T (p.Gly343Cys) c.1033G>T (p.Gly345Cys) c.745G>T (p.Gly249Cys) c.*2745G>T (n.*2745G>T) | gnomAD v4 |
| 3 | g.15644884G>A | CA351607824 | BTD | c.968G>A (p.Gly323Asp) c.399+2827G>A (n.399+2827G>A) c.165+2827G>A (n.165+2827G>A) c.1028G>A (p.Gly343Asp) c.1034G>A (p.Gly345Asp) c.746G>A (p.Gly249Asp) c.*2746G>A (n.*2746G>A) | |
| 3 | g.15644884G>C | CA351607826 | BTD | c.968G>C (p.Gly323Ala) c.399+2827G>C (n.399+2827G>C) c.165+2827G>C (n.165+2827G>C) c.1028G>C (p.Gly343Ala) c.1034G>C (p.Gly345Ala) c.746G>C (p.Gly249Ala) c.*2746G>C (n.*2746G>C) | |
| 3 | g.15644884G= | CA1347664628 | BTD | c.968G= (p.Gly323=) c.399+2827G= (n.399+2827G=) c.165+2827G= (n.165+2827G=) c.1028G= (p.Gly343=) c.1034G= (p.Gly345=) c.746G= (p.Gly249=) c.*2746G= (n.*2746G=) | |
| 3 | g.15644884G>T | CA2277409 | BTD | c.968G>T (p.Gly323Val) c.399+2827G>T (n.399+2827G>T) c.165+2827G>T (n.165+2827G>T) c.1028G>T (p.Gly343Val) c.1034G>T (p.Gly345Val) c.746G>T (p.Gly249Val) c.*2746G>T (n.*2746G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644885T>A | CA432819221 | BTD | c.969T>A (p.Gly323=) c.399+2828T>A (n.399+2828T>A) c.165+2828T>A (n.165+2828T>A) c.1029T>A (p.Gly343=) c.1035T>A (p.Gly345=) c.747T>A (p.Gly249=) c.*2747T>A (n.*2747T>A) | gnomAD v4 |
| 3 | g.15644885T>C | CA432819222 | BTD | c.969T>C (p.Gly323=) c.399+2828T>C (n.399+2828T>C) c.165+2828T>C (n.165+2828T>C) c.1029T>C (p.Gly343=) c.1035T>C (p.Gly345=) c.747T>C (p.Gly249=) c.*2747T>C (n.*2747T>C) | |
| 3 | g.15644885T>G | CA432819223 | BTD | c.969T>G (p.Gly323=) c.399+2828T>G (n.399+2828T>G) c.165+2828T>G (n.165+2828T>G) c.1029T>G (p.Gly343=) c.1035T>G (p.Gly345=) c.747T>G (p.Gly249=) c.*2747T>G (n.*2747T>G) | |
| 3 | g.15644886C>A | CA351607829 | BTD | c.970C>A (p.Leu324Ile) c.399+2829C>A (n.399+2829C>A) c.165+2829C>A (n.165+2829C>A) c.1030C>A (p.Leu344Ile) c.1036C>A (p.Leu346Ile) c.748C>A (p.Leu250Ile) c.*2748C>A (n.*2748C>A) | |
| 3 | g.15644886C>G | CA351607832 | BTD | c.970C>G (p.Leu324Val) c.399+2829C>G (n.399+2829C>G) c.165+2829C>G (n.165+2829C>G) c.1030C>G (p.Leu344Val) c.1036C>G (p.Leu346Val) c.748C>G (p.Leu250Val) c.*2748C>G (n.*2748C>G) | |
| 3 | g.15644886C>T | CA351607830 | BTD | c.970C>T (p.Leu324Phe) c.399+2829C>T (n.399+2829C>T) c.165+2829C>T (n.165+2829C>T) c.1030C>T (p.Leu344Phe) c.1036C>T (p.Leu346Phe) c.748C>T (p.Leu250Phe) c.*2748C>T (n.*2748C>T) | |
| 3 | g.15644887T>A | CA351607835 | BTD | c.971T>A (p.Leu324His) c.399+2830T>A (n.399+2830T>A) c.165+2830T>A (n.165+2830T>A) c.1031T>A (p.Leu344His) c.1037T>A (p.Leu346His) c.749T>A (p.Leu250His) c.*2749T>A (n.*2749T>A) | |
| 3 | g.15644887T>C | CA351607836 | BTD | c.971T>C (p.Leu324Pro) c.399+2830T>C (n.399+2830T>C) c.165+2830T>C (n.165+2830T>C) c.1031T>C (p.Leu344Pro) c.1037T>C (p.Leu346Pro) c.749T>C (p.Leu250Pro) c.*2749T>C (n.*2749T>C) | dbSNP |
| 3 | g.15644887T>G | CA351607838 | BTD | c.971T>G (p.Leu324Arg) c.399+2830T>G (n.399+2830T>G) c.165+2830T>G (n.165+2830T>G) c.1031T>G (p.Leu344Arg) c.1037T>G (p.Leu346Arg) c.749T>G (p.Leu250Arg) c.*2749T>G (n.*2749T>G) | |
| 3 | g.15644887T= | CA1347664633 | BTD | c.971T= (p.Leu324=) c.399+2830T= (n.399+2830T=) c.165+2830T= (n.165+2830T=) c.1031T= (p.Leu344=) c.1037T= (p.Leu346=) c.749T= (p.Leu250=) c.*2749T= (n.*2749T=) | |
| 3 | g.15644888C>A | CA432819225 | BTD | c.972C>A (p.Leu324=) c.399+2831C>A (n.399+2831C>A) c.165+2831C>A (n.165+2831C>A) c.1032C>A (p.Leu344=) c.1038C>A (p.Leu346=) c.750C>A (p.Leu250=) c.*2750C>A (n.*2750C>A) | |
| 3 | g.15644888C= | CA1347664636 | BTD | c.972C= (p.Leu324=) c.399+2831C= (n.399+2831C=) c.165+2831C= (n.165+2831C=) c.1032C= (p.Leu344=) c.1038C= (p.Leu346=) c.750C= (p.Leu250=) c.*2750C= (n.*2750C=) | |
| 3 | g.15644888C>G | CA432819226 | BTD | c.972C>G (p.Leu324=) c.399+2831C>G (n.399+2831C>G) c.165+2831C>G (n.165+2831C>G) c.1032C>G (p.Leu344=) c.1038C>G (p.Leu346=) c.750C>G (p.Leu250=) c.*2750C>G (n.*2750C>G) | |
| 3 | g.15644888C>T | CA2277410 | BTD | c.972C>T (p.Leu324=) c.399+2831C>T (n.399+2831C>T) c.165+2831C>T (n.165+2831C>T) c.1032C>T (p.Leu344=) c.1038C>T (p.Leu346=) c.750C>T (p.Leu250=) c.*2750C>T (n.*2750C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644889A= | CA1347664640 | BTD | c.973A= (p.Ile325=) c.399+2832A= (n.399+2832A=) c.165+2832A= (n.165+2832A=) c.1033A= (p.Ile345=) c.1039A= (p.Ile347=) c.751A= (p.Ile251=) c.*2751A= (n.*2751A=) | |
| 3 | g.15644889A>C | CA351607842 | BTD | c.973A>C (p.Ile325Leu) c.399+2832A>C (n.399+2832A>C) c.165+2832A>C (n.165+2832A>C) c.1033A>C (p.Ile345Leu) c.1039A>C (p.Ile347Leu) c.751A>C (p.Ile251Leu) c.*2751A>C (n.*2751A>C) | gnomAD v4 |
| 3 | g.15644889A>G | CA351607843 | BTD | c.973A>G (p.Ile325Val) c.399+2832A>G (n.399+2832A>G) c.165+2832A>G (n.165+2832A>G) c.1033A>G (p.Ile345Val) c.1039A>G (p.Ile347Val) c.751A>G (p.Ile251Val) c.*2751A>G (n.*2751A>G) | |
| 3 | g.15644889A>T | CA351607845 | BTD | c.973A>T (p.Ile325Phe) c.399+2832A>T (n.399+2832A>T) c.165+2832A>T (n.165+2832A>T) c.1033A>T (p.Ile345Phe) c.1039A>T (p.Ile347Phe) c.751A>T (p.Ile251Phe) c.*2751A>T (n.*2751A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644890T>A | CA351607847 | BTD | c.974T>A (p.Ile325Asn) c.399+2833T>A (n.399+2833T>A) c.165+2833T>A (n.165+2833T>A) c.1034T>A (p.Ile345Asn) c.1040T>A (p.Ile347Asn) c.752T>A (p.Ile251Asn) c.*2752T>A (n.*2752T>A) | |
| 3 | g.15644890T>C | CA2277411 | BTD | c.974T>C (p.Ile325Thr) c.399+2833T>C (n.399+2833T>C) c.165+2833T>C (n.165+2833T>C) c.1034T>C (p.Ile345Thr) c.1040T>C (p.Ile347Thr) c.752T>C (p.Ile251Thr) c.*2752T>C (n.*2752T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644890T>G | CA351607850 | BTD | c.974T>G (p.Ile325Ser) c.399+2833T>G (n.399+2833T>G) c.165+2833T>G (n.165+2833T>G) c.1034T>G (p.Ile345Ser) c.1040T>G (p.Ile347Ser) c.752T>G (p.Ile251Ser) c.*2752T>G (n.*2752T>G) | |
| 3 | g.15644890T= | CA1347664644 | BTD | c.974T= (p.Ile325=) c.399+2833T= (n.399+2833T=) c.165+2833T= (n.165+2833T=) c.1034T= (p.Ile345=) c.1040T= (p.Ile347=) c.752T= (p.Ile251=) c.*2752T= (n.*2752T=) | |
| 3 | g.15644891T>A | CA432819229 | BTD | c.975T>A (p.Ile325=) c.399+2834T>A (n.399+2834T>A) c.165+2834T>A (n.165+2834T>A) c.1035T>A (p.Ile345=) c.1041T>A (p.Ile347=) c.753T>A (p.Ile251=) c.*2753T>A (n.*2753T>A) | |
| 3 | g.15644891T>C | CA432819230 | BTD | c.975T>C (p.Ile325=) c.399+2834T>C (n.399+2834T>C) c.165+2834T>C (n.165+2834T>C) c.1035T>C (p.Ile345=) c.1041T>C (p.Ile347=) c.753T>C (p.Ile251=) c.*2753T>C (n.*2753T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644891T>G | CA351607852 | BTD | c.975T>G (p.Ile325Met) c.399+2834T>G (n.399+2834T>G) c.165+2834T>G (n.165+2834T>G) c.1035T>G (p.Ile345Met) c.1041T>G (p.Ile347Met) c.753T>G (p.Ile251Met) c.*2753T>G (n.*2753T>G) | |
| 3 | g.15644891T= | CA1347664646 | BTD | c.975T= (p.Ile325=) c.399+2834T= (n.399+2834T=) c.165+2834T= (n.165+2834T=) c.1035T= (p.Ile345=) c.1041T= (p.Ile347=) c.753T= (p.Ile251=) c.*2753T= (n.*2753T=) | |
| 3 | g.15644892G>A | CA351607854 | BTD | c.976G>A (p.Gly326Ser) c.399+2835G>A (n.399+2835G>A) c.165+2835G>A (n.165+2835G>A) c.1036G>A (p.Gly346Ser) c.1042G>A (p.Gly348Ser) c.754G>A (p.Gly252Ser) c.*2754G>A (n.*2754G>A) | |
| 3 | g.15644892G>C | CA351607858 | BTD | c.976G>C (p.Gly326Arg) c.399+2835G>C (n.399+2835G>C) c.165+2835G>C (n.165+2835G>C) c.1036G>C (p.Gly346Arg) c.1042G>C (p.Gly348Arg) c.754G>C (p.Gly252Arg) c.*2754G>C (n.*2754G>C) | |
| 3 | g.15644892G>T | CA351607856 | BTD | c.976G>T (p.Gly326Cys) c.399+2835G>T (n.399+2835G>T) c.165+2835G>T (n.165+2835G>T) c.1036G>T (p.Gly346Cys) c.1042G>T (p.Gly348Cys) c.754G>T (p.Gly252Cys) c.*2754G>T (n.*2754G>T) | |
| 3 | g.15644893G>A | CA351607860 | BTD | c.977G>A (p.Gly326Asp) c.399+2836G>A (n.399+2836G>A) c.165+2836G>A (n.165+2836G>A) c.1037G>A (p.Gly346Asp) c.1043G>A (p.Gly348Asp) c.755G>A (p.Gly252Asp) c.*2755G>A (n.*2755G>A) | |
| 3 | g.15644893G>C | CA351607862 | BTD | c.977G>C (p.Gly326Ala) c.399+2836G>C (n.399+2836G>C) c.165+2836G>C (n.165+2836G>C) c.1037G>C (p.Gly346Ala) c.1043G>C (p.Gly348Ala) c.755G>C (p.Gly252Ala) c.*2755G>C (n.*2755G>C) | |
| 3 | g.15644893G>T | CA351607864 | BTD | c.977G>T (p.Gly326Val) c.399+2836G>T (n.399+2836G>T) c.165+2836G>T (n.165+2836G>T) c.1037G>T (p.Gly346Val) c.1043G>T (p.Gly348Val) c.755G>T (p.Gly252Val) c.*2755G>T (n.*2755G>T) | |
| 3 | g.15644894T>A | CA432819233 | BTD | c.978T>A (p.Gly326=) c.399+2837T>A (n.399+2837T>A) c.165+2837T>A (n.165+2837T>A) c.1038T>A (p.Gly346=) c.1044T>A (p.Gly348=) c.756T>A (p.Gly252=) c.*2756T>A (n.*2756T>A) | |
| 3 | g.15644894T>C | CA432819234 | BTD | c.978T>C (p.Gly326=) c.399+2837T>C (n.399+2837T>C) c.165+2837T>C (n.165+2837T>C) c.1038T>C (p.Gly346=) c.1044T>C (p.Gly348=) c.756T>C (p.Gly252=) c.*2756T>C (n.*2756T>C) | |
| 3 | g.15644894T>G | CA432819236 | BTD | c.978T>G (p.Gly326=) c.399+2837T>G (n.399+2837T>G) c.165+2837T>G (n.165+2837T>G) c.1038T>G (p.Gly346=) c.1044T>G (p.Gly348=) c.756T>G (p.Gly252=) c.*2756T>G (n.*2756T>G) | ClinVar dbSNP |
| 3 | g.15644895G>A | CA351607866 | BTD | c.979G>A (p.Ala327Thr) c.399+2838G>A (n.399+2838G>A) c.165+2838G>A (n.165+2838G>A) c.1039G>A (p.Ala347Thr) c.1045G>A (p.Ala349Thr) c.757G>A (p.Ala253Thr) c.*2757G>A (n.*2757G>A) | gnomAD v4 |
| 3 | g.15644895G>C | CA351607867 | BTD | c.979G>C (p.Ala327Pro) c.399+2838G>C (n.399+2838G>C) c.165+2838G>C (n.165+2838G>C) c.1039G>C (p.Ala347Pro) c.1045G>C (p.Ala349Pro) c.757G>C (p.Ala253Pro) c.*2757G>C (n.*2757G>C) | |
| 3 | g.15644895G>T | CA351607869 | BTD | c.979G>T (p.Ala327Ser) c.399+2838G>T (n.399+2838G>T) c.165+2838G>T (n.165+2838G>T) c.1039G>T (p.Ala347Ser) c.1045G>T (p.Ala349Ser) c.757G>T (p.Ala253Ser) c.*2757G>T (n.*2757G>T) | |
| 3 | g.15644896C>A | CA351607872 | BTD | c.980C>A (p.Ala327Glu) c.399+2839C>A (n.399+2839C>A) c.165+2839C>A (n.165+2839C>A) c.1040C>A (p.Ala347Glu) c.1046C>A (p.Ala349Glu) c.758C>A (p.Ala253Glu) c.*2758C>A (n.*2758C>A) | |
| 3 | g.15644896C>G | CA351607873 | BTD | c.980C>G (p.Ala327Gly) c.399+2839C>G (n.399+2839C>G) c.165+2839C>G (n.165+2839C>G) c.1040C>G (p.Ala347Gly) c.1046C>G (p.Ala349Gly) c.758C>G (p.Ala253Gly) c.*2758C>G (n.*2758C>G) | |
| 3 | g.15644896C>T | CA351607875 | BTD | c.980C>T (p.Ala327Val) c.399+2839C>T (n.399+2839C>T) c.165+2839C>T (n.165+2839C>T) c.1040C>T (p.Ala347Val) c.1046C>T (p.Ala349Val) c.758C>T (p.Ala253Val) c.*2758C>T (n.*2758C>T) | |
| 3 | g.15644896_15644897insCA | CA2515397665 | BTD | c.980_981insCA (p.Glu328LysfsTer16) c.399+2839_399+2840insCA (n.399+2839_399+2840insCA) c.980_981insCA (p.Glu328LysfsTer21) c.165+2839_165+2840insCA (n.165+2839_165+2840insCA) c.1040_1041insCA (p.Glu348LysfsTer16) c.1046_1047insCA (p.Glu350LysfsTer16) c.980_981insCA (p.Glu328LysfsTer?) c.758_759insCA (p.Glu254LysfsTer21) c.*2758_*2759insCA (n.*2758_*2759insCA) | |
| 3 | g.15644897A>C | CA432819245 | BTD | c.981A>C (p.Ala327=) c.399+2840A>C (n.399+2840A>C) c.165+2840A>C (n.165+2840A>C) c.1041A>C (p.Ala347=) c.1047A>C (p.Ala349=) c.759A>C (p.Ala253=) c.*2759A>C (n.*2759A>C) | |
| 3 | g.15644897A>G | CA432819243 | BTD | c.981A>G (p.Ala327=) c.399+2840A>G (n.399+2840A>G) c.165+2840A>G (n.165+2840A>G) c.1041A>G (p.Ala347=) c.1047A>G (p.Ala349=) c.759A>G (p.Ala253=) c.*2759A>G (n.*2759A>G) | |
| 3 | g.15644897A>T | CA432819244 | BTD | c.981A>T (p.Ala327=) c.399+2840A>T (n.399+2840A>T) c.165+2840A>T (n.165+2840A>T) c.1041A>T (p.Ala347=) c.1047A>T (p.Ala349=) c.759A>T (p.Ala253=) c.*2759A>T (n.*2759A>T) | |
| 3 | g.15644898G>A | CA351607879 | BTD | c.982G>A (p.Glu328Lys) c.399+2841G>A (n.399+2841G>A) c.165+2841G>A (n.165+2841G>A) c.1042G>A (p.Glu348Lys) c.1048G>A (p.Glu350Lys) c.760G>A (p.Glu254Lys) c.*2760G>A (n.*2760G>A) | ClinVar |
| 3 | g.15644898G>C | CA351607881 | BTD | c.982G>C (p.Glu328Gln) c.399+2841G>C (n.399+2841G>C) c.165+2841G>C (n.165+2841G>C) c.1042G>C (p.Glu348Gln) c.1048G>C (p.Glu350Gln) c.760G>C (p.Glu254Gln) c.*2760G>C (n.*2760G>C) | |
| 3 | g.15644898G>T | CA351607878 | BTD | c.982G>T (p.Glu328Ter) c.399+2841G>T (n.399+2841G>T) c.165+2841G>T (n.165+2841G>T) c.1042G>T (p.Glu348Ter) c.1048G>T (p.Glu350Ter) c.760G>T (p.Glu254Ter) c.*2760G>T (n.*2760G>T) | |
| 3 | g.15644899A>C | CA351607883 | BTD | c.983A>C (p.Glu328Ala) c.399+2842A>C (n.399+2842A>C) c.165+2842A>C (n.165+2842A>C) c.1043A>C (p.Glu348Ala) c.1049A>C (p.Glu350Ala) c.761A>C (p.Glu254Ala) c.*2761A>C (n.*2761A>C) | gnomAD v4 |
| 3 | g.15644899A>G | CA351607885 | BTD | c.983A>G (p.Glu328Gly) c.399+2842A>G (n.399+2842A>G) c.165+2842A>G (n.165+2842A>G) c.1043A>G (p.Glu348Gly) c.1049A>G (p.Glu350Gly) c.761A>G (p.Glu254Gly) c.*2761A>G (n.*2761A>G) | gnomAD v4 |
| 3 | g.15644899A>T | CA351607886 | BTD | c.983A>T (p.Glu328Val) c.399+2842A>T (n.399+2842A>T) c.165+2842A>T (n.165+2842A>T) c.1043A>T (p.Glu348Val) c.1049A>T (p.Glu350Val) c.761A>T (p.Glu254Val) c.*2761A>T (n.*2761A>T) | |
| 3 | g.15644900G>A | CA432819249 | BTD | c.984G>A (p.Glu328=) c.399+2843G>A (n.399+2843G>A) c.165+2843G>A (n.165+2843G>A) c.1044G>A (p.Glu348=) c.1050G>A (p.Glu350=) c.762G>A (p.Glu254=) c.*2762G>A (n.*2762G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644900G>C | CA351607888 | BTD | c.984G>C (p.Glu328Asp) c.399+2843G>C (n.399+2843G>C) c.165+2843G>C (n.165+2843G>C) c.1044G>C (p.Glu348Asp) c.1050G>C (p.Glu350Asp) c.762G>C (p.Glu254Asp) c.*2762G>C (n.*2762G>C) | |
| 3 | g.15644900G= | CA1347664648 | BTD | c.984G= (p.Glu328=) c.399+2843G= (n.399+2843G=) c.165+2843G= (n.165+2843G=) c.1044G= (p.Glu348=) c.1050G= (p.Glu350=) c.762G= (p.Glu254=) c.*2762G= (n.*2762G=) | |
| 3 | g.15644900G>T | CA351607890 | BTD | c.984G>T (p.Glu328Asp) c.399+2843G>T (n.399+2843G>T) c.165+2843G>T (n.165+2843G>T) c.1044G>T (p.Glu348Asp) c.1050G>T (p.Glu350Asp) c.762G>T (p.Glu254Asp) c.*2762G>T (n.*2762G>T) | |
| 3 | g.15644901A>C | CA351607895 | BTD | c.985A>C (p.Asn329His) c.399+2844A>C (n.399+2844A>C) c.165+2844A>C (n.165+2844A>C) c.1045A>C (p.Asn349His) c.1051A>C (p.Asn351His) c.763A>C (p.Asn255His) c.*2763A>C (n.*2763A>C) | |
| 3 | g.15644901A>G | CA351607892 | BTD | c.985A>G (p.Asn329Asp) c.399+2844A>G (n.399+2844A>G) c.165+2844A>G (n.165+2844A>G) c.1045A>G (p.Asn349Asp) c.1051A>G (p.Asn351Asp) c.763A>G (p.Asn255Asp) c.*2763A>G (n.*2763A>G) | |
| 3 | g.15644901A>T | CA351607893 | BTD | c.985A>T (p.Asn329Tyr) c.399+2844A>T (n.399+2844A>T) c.165+2844A>T (n.165+2844A>T) c.1045A>T (p.Asn349Tyr) c.1051A>T (p.Asn351Tyr) c.763A>T (p.Asn255Tyr) c.*2763A>T (n.*2763A>T) | |
| 3 | g.15644901_15644902del | CA2550531259 | BTD | c.985_986del (p.Asn329CysfsTer4) c.399+2844_399+2845del (n.399+2844_399+2845del) c.165+2844_165+2845del (n.165+2844_165+2845del) c.1045_1046del (p.Asn349CysfsTer4) c.1051_1052del (p.Asn351CysfsTer4) c.763_764del (p.Asn255CysfsTer4) c.*2763_*2764del (n.*2763_*2764del) | |
| 3 | g.15644902A= | CA1347664651 | BTD | c.986A= (p.Asn329=) c.399+2845A= (n.399+2845A=) c.165+2845A= (n.165+2845A=) c.1046A= (p.Asn349=) c.1052A= (p.Asn351=) c.764A= (p.Asn255=) c.*2764A= (n.*2764A=) | |
| 3 | g.15644902A>C | CA278370 | BTD | c.986A>C (p.Asn329Thr) c.399+2845A>C (n.399+2845A>C) c.165+2845A>C (n.165+2845A>C) c.1046A>C (p.Asn349Thr) c.1052A>C (p.Asn351Thr) c.764A>C (p.Asn255Thr) c.*2764A>C (n.*2764A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644902A>G | CA351607898 | BTD | c.986A>G (p.Asn329Ser) c.399+2845A>G (n.399+2845A>G) c.165+2845A>G (n.165+2845A>G) c.1046A>G (p.Asn349Ser) c.1052A>G (p.Asn351Ser) c.764A>G (p.Asn255Ser) c.*2764A>G (n.*2764A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644902A>T | CA351607900 | BTD | c.986A>T (p.Asn329Ile) c.399+2845A>T (n.399+2845A>T) c.165+2845A>T (n.165+2845A>T) c.1046A>T (p.Asn349Ile) c.1052A>T (p.Asn351Ile) c.764A>T (p.Asn255Ile) c.*2764A>T (n.*2764A>T) | |
| 3 | g.15644903T>A | CA351607902 | BTD | c.987T>A (p.Asn329Lys) c.399+2846T>A (n.399+2846T>A) c.165+2846T>A (n.165+2846T>A) c.1047T>A (p.Asn349Lys) c.1053T>A (p.Asn351Lys) c.765T>A (p.Asn255Lys) c.*2765T>A (n.*2765T>A) | |
| 3 | g.15644903T>C | CA432819254 | BTD | c.987T>C (p.Asn329=) c.399+2846T>C (n.399+2846T>C) c.165+2846T>C (n.165+2846T>C) c.1047T>C (p.Asn349=) c.1053T>C (p.Asn351=) c.765T>C (p.Asn255=) c.*2765T>C (n.*2765T>C) | |
| 3 | g.15644903T>G | CA351607904 | BTD | c.987T>G (p.Asn329Lys) c.399+2846T>G (n.399+2846T>G) c.165+2846T>G (n.165+2846T>G) c.1047T>G (p.Asn349Lys) c.1053T>G (p.Asn351Lys) c.765T>G (p.Asn255Lys) c.*2765T>G (n.*2765T>G) | |
| 3 | g.15644904G>A | CA351607906 | BTD | c.988G>A (p.Ala330Thr) c.399+2847G>A (n.399+2847G>A) c.165+2847G>A (n.165+2847G>A) c.1048G>A (p.Ala350Thr) c.1054G>A (p.Ala352Thr) c.766G>A (p.Ala256Thr) c.*2766G>A (n.*2766G>A) | |
| 3 | g.15644904G>C | CA351607910 | BTD | c.988G>C (p.Ala330Pro) c.399+2847G>C (n.399+2847G>C) c.165+2847G>C (n.165+2847G>C) c.1048G>C (p.Ala350Pro) c.1054G>C (p.Ala352Pro) c.766G>C (p.Ala256Pro) c.*2766G>C (n.*2766G>C) | |
| 3 | g.15644904G>T | CA351607908 | BTD | c.988G>T (p.Ala330Ser) c.399+2847G>T (n.399+2847G>T) c.165+2847G>T (n.165+2847G>T) c.1048G>T (p.Ala350Ser) c.1054G>T (p.Ala352Ser) c.766G>T (p.Ala256Ser) c.*2766G>T (n.*2766G>T) | |
| 3 | g.15644904_15644905delinsGC | CA1347664658 | BTD | c.988_989delinsGC (p.Ala330=) c.399+2847_399+2848delinsGC (n.399+2847_399+2848delinsGC) c.165+2847_165+2848delinsGC (n.165+2847_165+2848delinsGC) c.1048_1049delinsGC (p.Ala350=) c.1054_1055delinsGC (p.Ala352=) c.766_767delinsGC (p.Ala256=) c.*2766_*2767delinsGC (n.*2766_*2767delinsGC) | |
| 3 | g.15644905del | CA278287 | BTD | c.989del (p.Ala330GlufsTer13) c.399+2848del (n.399+2848del) c.989del (p.Ala330GlufsTer18) c.165+2848del (n.165+2848del) c.1049del (p.Ala350GlufsTer13) c.1055del (p.Ala352GlufsTer13) c.989del (p.Ala330GlufsTer?) c.767del (p.Ala256GlufsTer18) c.*2767del (n.*2767del) | dbSNP |
| 3 | g.15644905C>A | CA351607912 | BTD | c.989C>A (p.Ala330Glu) c.399+2848C>A (n.399+2848C>A) c.165+2848C>A (n.165+2848C>A) c.1049C>A (p.Ala350Glu) c.1055C>A (p.Ala352Glu) c.767C>A (p.Ala256Glu) c.*2767C>A (n.*2767C>A) | |
| 3 | g.15644905C>G | CA351607914 | BTD | c.989C>G (p.Ala330Gly) c.399+2848C>G (n.399+2848C>G) c.165+2848C>G (n.165+2848C>G) c.1049C>G (p.Ala350Gly) c.1055C>G (p.Ala352Gly) c.767C>G (p.Ala256Gly) c.*2767C>G (n.*2767C>G) | |
| 3 | g.15644905C>T | CA351607916 | BTD | c.989C>T (p.Ala330Val) c.399+2848C>T (n.399+2848C>T) c.165+2848C>T (n.165+2848C>T) c.1049C>T (p.Ala350Val) c.1055C>T (p.Ala352Val) c.767C>T (p.Ala256Val) c.*2767C>T (n.*2767C>T) | |
| 3 | g.15644906A>C | CA432819259 | BTD | c.990A>C (p.Ala330=) c.399+2849A>C (n.399+2849A>C) c.165+2849A>C (n.165+2849A>C) c.1050A>C (p.Ala350=) c.1056A>C (p.Ala352=) c.768A>C (p.Ala256=) c.*2768A>C (n.*2768A>C) | |
| 3 | g.15644906A>G | CA432819261 | BTD | c.990A>G (p.Ala330=) c.399+2849A>G (n.399+2849A>G) c.165+2849A>G (n.165+2849A>G) c.1050A>G (p.Ala350=) c.1056A>G (p.Ala352=) c.768A>G (p.Ala256=) c.*2768A>G (n.*2768A>G) | |
| 3 | g.15644906A>T | CA432819262 | BTD | c.990A>T (p.Ala330=) c.399+2849A>T (n.399+2849A>T) c.165+2849A>T (n.165+2849A>T) c.1050A>T (p.Ala350=) c.1056A>T (p.Ala352=) c.768A>T (p.Ala256=) c.*2768A>T (n.*2768A>T) | |
| 3 | g.15644907A= | CA1347664667 | BTD | c.991A= (p.Thr331=) c.399+2850A= (n.399+2850A=) c.165+2850A= (n.165+2850A=) c.1051A= (p.Thr351=) c.1057A= (p.Thr353=) c.769A= (p.Thr257=) c.*2769A= (n.*2769A=) | |
| 3 | g.15644907A>C | CA351607917 | BTD | c.991A>C (p.Thr331Pro) c.399+2850A>C (n.399+2850A>C) c.165+2850A>C (n.165+2850A>C) c.1051A>C (p.Thr351Pro) c.1057A>C (p.Thr353Pro) c.769A>C (p.Thr257Pro) c.*2769A>C (n.*2769A>C) | |
| 3 | g.15644907A>G | CA351607918 | BTD | c.991A>G (p.Thr331Ala) c.399+2850A>G (n.399+2850A>G) c.165+2850A>G (n.165+2850A>G) c.1051A>G (p.Thr351Ala) c.1057A>G (p.Thr353Ala) c.769A>G (p.Thr257Ala) c.*2769A>G (n.*2769A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644907A>T | CA351607919 | BTD | c.991A>T (p.Thr331Ser) c.399+2850A>T (n.399+2850A>T) c.165+2850A>T (n.165+2850A>T) c.1051A>T (p.Thr351Ser) c.1057A>T (p.Thr353Ser) c.769A>T (p.Thr257Ser) c.*2769A>T (n.*2769A>T) | |
| 3 | g.15644907_15644908delinsAC | CA1347664666 | BTD | c.991_992delinsAC (p.Thr331=) c.399+2850_399+2851delinsAC (n.399+2850_399+2851delinsAC) c.165+2850_165+2851delinsAC (n.165+2850_165+2851delinsAC) c.1051_1052delinsAC (p.Thr351=) c.1057_1058delinsAC (p.Thr353=) c.769_770delinsAC (p.Thr257=) c.*2769_*2770delinsAC (n.*2769_*2770delinsAC) | |
| 3 | g.15644908del | CA278288 | BTD | c.992del (p.Thr331LysfsTer12) c.399+2851del (n.399+2851del) c.992del (p.Thr331LysfsTer17) c.165+2851del (n.165+2851del) c.1052del (p.Thr351LysfsTer12) c.1058del (p.Thr353LysfsTer12) c.992del (p.Thr331LysfsTer?) c.770del (p.Thr257LysfsTer17) c.*2770del (n.*2770del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644908C>A | CA351607921 | BTD | c.992C>A (p.Thr331Lys) c.399+2851C>A (n.399+2851C>A) c.165+2851C>A (n.165+2851C>A) c.1052C>A (p.Thr351Lys) c.1058C>A (p.Thr353Lys) c.770C>A (p.Thr257Lys) c.*2770C>A (n.*2770C>A) | |
| 3 | g.15644908C>G | CA351607923 | BTD | c.992C>G (p.Thr331Arg) c.399+2851C>G (n.399+2851C>G) c.165+2851C>G (n.165+2851C>G) c.1052C>G (p.Thr351Arg) c.1058C>G (p.Thr353Arg) c.770C>G (p.Thr257Arg) c.*2770C>G (n.*2770C>G) | |
| 3 | g.15644908C>T | CA351607924 | BTD | c.992C>T (p.Thr331Ile) c.399+2851C>T (n.399+2851C>T) c.165+2851C>T (n.165+2851C>T) c.1052C>T (p.Thr351Ile) c.1058C>T (p.Thr353Ile) c.770C>T (p.Thr257Ile) c.*2770C>T (n.*2770C>T) | |
| 3 | g.15644909A= | CA1347664675 | BTD | c.993A= (p.Thr331=) c.399+2852A= (n.399+2852A=) c.165+2852A= (n.165+2852A=) c.1053A= (p.Thr351=) c.1059A= (p.Thr353=) c.771A= (p.Thr257=) c.*2771A= (n.*2771A=) | |
| 3 | g.15644909A>C | CA432819268 | BTD | c.993A>C (p.Thr331=) c.399+2852A>C (n.399+2852A>C) c.165+2852A>C (n.165+2852A>C) c.1053A>C (p.Thr351=) c.1059A>C (p.Thr353=) c.771A>C (p.Thr257=) c.*2771A>C (n.*2771A>C) | |
| 3 | g.15644909A>G | CA432819266 | BTD | c.993A>G (p.Thr331=) c.399+2852A>G (n.399+2852A>G) c.165+2852A>G (n.165+2852A>G) c.1053A>G (p.Thr351=) c.1059A>G (p.Thr353=) c.771A>G (p.Thr257=) c.*2771A>G (n.*2771A>G) | dbSNP gnomAD v4 COSMIC |
| 3 | g.15644909A>T | CA432819267 | BTD | c.993A>T (p.Thr331=) c.399+2852A>T (n.399+2852A>T) c.165+2852A>T (n.165+2852A>T) c.1053A>T (p.Thr351=) c.1059A>T (p.Thr353=) c.771A>T (p.Thr257=) c.*2771A>T (n.*2771A>T) | |
| 3 | g.15644910G>A | CA351607929 | BTD | c.994G>A (p.Gly332Ser) c.399+2853G>A (n.399+2853G>A) c.165+2853G>A (n.165+2853G>A) c.1054G>A (p.Gly352Ser) c.1060G>A (p.Gly354Ser) c.772G>A (p.Gly258Ser) c.*2772G>A (n.*2772G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644910G>C | CA351607930 | BTD | c.994G>C (p.Gly332Arg) c.399+2853G>C (n.399+2853G>C) c.165+2853G>C (n.165+2853G>C) c.1054G>C (p.Gly352Arg) c.1060G>C (p.Gly354Arg) c.772G>C (p.Gly258Arg) c.*2772G>C (n.*2772G>C) | |
| 3 | g.15644910G= | CA1347664678 | BTD | c.994G= (p.Gly332=) c.399+2853G= (n.399+2853G=) c.165+2853G= (n.165+2853G=) c.1054G= (p.Gly352=) c.1060G= (p.Gly354=) c.772G= (p.Gly258=) c.*2772G= (n.*2772G=) | |
| 3 | g.15644910G>T | CA351607927 | BTD | c.994G>T (p.Gly332Cys) c.399+2853G>T (n.399+2853G>T) c.165+2853G>T (n.165+2853G>T) c.1054G>T (p.Gly352Cys) c.1060G>T (p.Gly354Cys) c.772G>T (p.Gly258Cys) c.*2772G>T (n.*2772G>T) | |
| 3 | g.15644911G>A | CA2277412 | BTD | c.995G>A (p.Gly332Asp) c.399+2854G>A (n.399+2854G>A) c.165+2854G>A (n.165+2854G>A) c.1055G>A (p.Gly352Asp) c.1061G>A (p.Gly354Asp) c.773G>A (p.Gly258Asp) c.*2773G>A (n.*2773G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644911G>C | CA351607932 | BTD | c.995G>C (p.Gly332Ala) c.399+2854G>C (n.399+2854G>C) c.165+2854G>C (n.165+2854G>C) c.1055G>C (p.Gly352Ala) c.1061G>C (p.Gly354Ala) c.773G>C (p.Gly258Ala) c.*2773G>C (n.*2773G>C) | |
| 3 | g.15644911G= | CA1347664680 | BTD | c.995G= (p.Gly332=) c.399+2854G= (n.399+2854G=) c.165+2854G= (n.165+2854G=) c.1055G= (p.Gly352=) c.1061G= (p.Gly354=) c.773G= (p.Gly258=) c.*2773G= (n.*2773G=) | |
| 3 | g.15644911G>T | CA351607934 | BTD | c.995G>T (p.Gly332Val) c.399+2854G>T (n.399+2854G>T) c.165+2854G>T (n.165+2854G>T) c.1055G>T (p.Gly352Val) c.1061G>T (p.Gly354Val) c.773G>T (p.Gly258Val) c.*2773G>T (n.*2773G>T) | |
| 3 | g.15644912T>A | CA432819274 | BTD | c.996T>A (p.Gly332=) c.399+2855T>A (n.399+2855T>A) c.165+2855T>A (n.165+2855T>A) c.1056T>A (p.Gly352=) c.1062T>A (p.Gly354=) c.774T>A (p.Gly258=) c.*2774T>A (n.*2774T>A) | |
| 3 | g.15644912T>C | CA432819275 | BTD | c.996T>C (p.Gly332=) c.399+2855T>C (n.399+2855T>C) c.165+2855T>C (n.165+2855T>C) c.1056T>C (p.Gly352=) c.1062T>C (p.Gly354=) c.774T>C (p.Gly258=) c.*2774T>C (n.*2774T>C) | |
| 3 | g.15644912T>G | CA432819276 | BTD | c.996T>G (p.Gly332=) c.399+2855T>G (n.399+2855T>G) c.165+2855T>G (n.165+2855T>G) c.1056T>G (p.Gly352=) c.1062T>G (p.Gly354=) c.774T>G (p.Gly258=) c.*2774T>G (n.*2774T>G) | |
| 3 | g.15644913G>A | CA2277413 | BTD | c.997G>A (p.Glu333Lys) c.399+2856G>A (n.399+2856G>A) c.165+2856G>A (n.165+2856G>A) c.1057G>A (p.Glu353Lys) c.1063G>A (p.Glu355Lys) c.775G>A (p.Glu259Lys) c.*2775G>A (n.*2775G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644913G>C | CA351607937 | BTD | c.997G>C (p.Glu333Gln) c.399+2856G>C (n.399+2856G>C) c.165+2856G>C (n.165+2856G>C) c.1057G>C (p.Glu353Gln) c.1063G>C (p.Glu355Gln) c.775G>C (p.Glu259Gln) c.*2775G>C (n.*2775G>C) | |
| 3 | g.15644913G= | CA1347664686 | BTD | c.997G= (p.Glu333=) c.399+2856G= (n.399+2856G=) c.165+2856G= (n.165+2856G=) c.1057G= (p.Glu353=) c.1063G= (p.Glu355=) c.775G= (p.Glu259=) c.*2775G= (n.*2775G=) | |
| 3 | g.15644913G>T | CA351607938 | BTD | c.997G>T (p.Glu333Ter) c.399+2856G>T (n.399+2856G>T) c.165+2856G>T (n.165+2856G>T) c.1057G>T (p.Glu353Ter) c.1063G>T (p.Glu355Ter) c.775G>T (p.Glu259Ter) c.*2775G>T (n.*2775G>T) | |
| 3 | g.15644914A= | CA1347664690 | BTD | c.998A= (p.Glu333=) c.399+2857A= (n.399+2857A=) c.165+2857A= (n.165+2857A=) c.1058A= (p.Glu353=) c.1064A= (p.Glu355=) c.776A= (p.Glu259=) c.*2776A= (n.*2776A=) | |
| 3 | g.15644914A>C | CA351607941 | BTD | c.998A>C (p.Glu333Ala) c.399+2857A>C (n.399+2857A>C) c.165+2857A>C (n.165+2857A>C) c.1058A>C (p.Glu353Ala) c.1064A>C (p.Glu355Ala) c.776A>C (p.Glu259Ala) c.*2776A>C (n.*2776A>C) | |
| 3 | g.15644914A>G | CA351607942 | BTD | c.998A>G (p.Glu333Gly) c.399+2857A>G (n.399+2857A>G) c.165+2857A>G (n.165+2857A>G) c.1058A>G (p.Glu353Gly) c.1064A>G (p.Glu355Gly) c.776A>G (p.Glu259Gly) c.*2776A>G (n.*2776A>G) | dbSNP |
| 3 | g.15644914A>T | CA351607944 | BTD | c.998A>T (p.Glu333Val) c.399+2857A>T (n.399+2857A>T) c.165+2857A>T (n.165+2857A>T) c.1058A>T (p.Glu353Val) c.1064A>T (p.Glu355Val) c.776A>T (p.Glu259Val) c.*2776A>T (n.*2776A>T) | gnomAD v4 |
| 3 | g.15644915A>C | CA351607946 | BTD | c.999A>C (p.Glu333Asp) c.399+2858A>C (n.399+2858A>C) c.165+2858A>C (n.165+2858A>C) c.1059A>C (p.Glu353Asp) c.1065A>C (p.Glu355Asp) c.777A>C (p.Glu259Asp) c.*2777A>C (n.*2777A>C) | |
| 3 | g.15644915A>G | CA432819278 | BTD | c.999A>G (p.Glu333=) c.399+2858A>G (n.399+2858A>G) c.165+2858A>G (n.165+2858A>G) c.1059A>G (p.Glu353=) c.1065A>G (p.Glu355=) c.777A>G (p.Glu259=) c.*2777A>G (n.*2777A>G) | |
| 3 | g.15644915A>T | CA351607947 | BTD | c.999A>T (p.Glu333Asp) c.399+2858A>T (n.399+2858A>T) c.165+2858A>T (n.165+2858A>T) c.1059A>T (p.Glu353Asp) c.1065A>T (p.Glu355Asp) c.777A>T (p.Glu259Asp) c.*2777A>T (n.*2777A>T) |