UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154996925C= | CA2466857738 | F8 | c.388+48G= (n.388+48G=) c.*174+48G= (n.*174+48G=) c.283+48G= (n.283+48G=) c.370+48G= (n.370+48G=) | |
| X | g.154996925C>T | CA645250347 | F8 | c.388+48G>A (n.388+48G>A) c.*174+48G>A (n.*174+48G>A) c.283+48G>A (n.283+48G>A) c.370+48G>A (n.370+48G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154996927G>A | CA2579744900 | F8 | c.388+46C>T (n.388+46C>T) c.*174+46C>T (n.*174+46C>T) c.283+46C>T (n.283+46C>T) c.370+46C>T (n.370+46C>T) | gnomAD v4 |
| X | g.154996927G>C | CA2695170228 | F8 | c.388+46C>G (n.388+46C>G) c.*174+46C>G (n.*174+46C>G) c.283+46C>G (n.283+46C>G) c.370+46C>G (n.370+46C>G) | gnomAD v4 |
| X | g.154996928T>C | CA2579744901 | F8 | c.388+45A>G (n.388+45A>G) c.*174+45A>G (n.*174+45A>G) c.283+45A>G (n.283+45A>G) c.370+45A>G (n.370+45A>G) | gnomAD v4 |
| X | g.154996929T>C | CA2695170229 | F8 | c.388+44A>G (n.388+44A>G) c.*174+44A>G (n.*174+44A>G) c.283+44A>G (n.283+44A>G) c.370+44A>G (n.370+44A>G) | gnomAD v4 |
| X | g.154996930C>A | CA2503762267 | F8 | c.388+43G>T (n.388+43G>T) c.*174+43G>T (n.*174+43G>T) c.283+43G>T (n.283+43G>T) c.370+43G>T (n.370+43G>T) | |
| X | g.154996932A>T | CA2579744902 | F8 | c.388+41T>A (n.388+41T>A) c.*174+41T>A (n.*174+41T>A) c.283+41T>A (n.283+41T>A) c.370+41T>A (n.370+41T>A) | |
| X | g.154996934T>G | CA2695170230 | F8 | c.388+39A>C (n.388+39A>C) c.*174+39A>C (n.*174+39A>C) c.283+39A>C (n.283+39A>C) c.370+39A>C (n.370+39A>C) | gnomAD v4 |
| X | g.154996935C= | CA2466857739 | F8 | c.388+38G= (n.388+38G=) c.*174+38G= (n.*174+38G=) c.283+38G= (n.283+38G=) c.370+38G= (n.370+38G=) | |
| X | g.154996935C>G | CA2579744903 | F8 | c.388+38G>C (n.388+38G>C) c.*174+38G>C (n.*174+38G>C) c.283+38G>C (n.283+38G>C) c.370+38G>C (n.370+38G>C) | |
| X | g.154996935C>T | CA10568595 | F8 | c.388+38G>A (n.388+38G>A) c.*174+38G>A (n.*174+38G>A) c.283+38G>A (n.283+38G>A) c.370+38G>A (n.370+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154996937T>C | CA10568596 | F8 | c.388+36A>G (n.388+36A>G) c.*174+36A>G (n.*174+36A>G) c.283+36A>G (n.283+36A>G) c.370+36A>G (n.370+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154996937T= | CA2466857740 | F8 | c.388+36A= (n.388+36A=) c.*174+36A= (n.*174+36A=) c.283+36A= (n.283+36A=) c.370+36A= (n.370+36A=) | |
| X | g.154996938A= | CA2466857741 | F8 | c.388+35T= (n.388+35T=) c.*174+35T= (n.*174+35T=) c.283+35T= (n.283+35T=) c.370+35T= (n.370+35T=) | |
| X | g.154996938A>C | CA337112243 | F8 | c.388+35T>G (n.388+35T>G) c.*174+35T>G (n.*174+35T>G) c.283+35T>G (n.283+35T>G) c.370+35T>G (n.370+35T>G) | dbSNP |
| X | g.154996943G>A | CA2466857743 | F8 | c.388+30C>T (n.388+30C>T) c.*174+30C>T (n.*174+30C>T) c.283+30C>T (n.283+30C>T) c.370+30C>T (n.370+30C>T) | dbSNP |
| X | g.154996943G= | CA2466857742 | F8 | c.388+30C= (n.388+30C=) c.*174+30C= (n.*174+30C=) c.283+30C= (n.283+30C=) c.370+30C= (n.370+30C=) | |
| X | g.154996945C= | CA2466857744 | F8 | c.388+28G= (n.388+28G=) c.*174+28G= (n.*174+28G=) c.283+28G= (n.283+28G=) c.370+28G= (n.370+28G=) | |
| X | g.154996945C>G | CA645250348 | F8 | c.388+28G>C (n.388+28G>C) c.*174+28G>C (n.*174+28G>C) c.283+28G>C (n.283+28G>C) c.370+28G>C (n.370+28G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154996945C>T | CA2695170231 | F8 | c.388+28G>A (n.388+28G>A) c.*174+28G>A (n.*174+28G>A) c.283+28G>A (n.283+28G>A) c.370+28G>A (n.370+28G>A) | gnomAD v4 |
| X | g.154996946A>C | CA2695170232 | F8 | c.388+27T>G (n.388+27T>G) c.*174+27T>G (n.*174+27T>G) c.283+27T>G (n.283+27T>G) c.370+27T>G (n.370+27T>G) | gnomAD v4 |
| X | g.154996947G>A | CA645250349 | F8 | c.388+26C>T (n.388+26C>T) c.*174+26C>T (n.*174+26C>T) c.283+26C>T (n.283+26C>T) c.370+26C>T (n.370+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154996947G= | CA2466857745 | F8 | c.388+26C= (n.388+26C=) c.*174+26C= (n.*174+26C=) c.283+26C= (n.283+26C=) c.370+26C= (n.370+26C=) | |
| X | g.154996948G>A | CA2695170233 | F8 | c.388+25C>T (n.388+25C>T) c.*174+25C>T (n.*174+25C>T) c.283+25C>T (n.283+25C>T) c.370+25C>T (n.370+25C>T) | gnomAD v4 |
| X | g.154996948G>C | CA2695170234 | F8 | c.388+25C>G (n.388+25C>G) c.*174+25C>G (n.*174+25C>G) c.283+25C>G (n.283+25C>G) c.370+25C>G (n.370+25C>G) | gnomAD v4 |
| X | g.154996949A= | CA2466857746 | F8 | c.388+24T= (n.388+24T=) c.*174+24T= (n.*174+24T=) c.283+24T= (n.283+24T=) c.370+24T= (n.370+24T=) | |
| X | g.154996949A>G | CA2532103181 | F8 | c.388+24T>C (n.388+24T>C) c.*174+24T>C (n.*174+24T>C) c.283+24T>C (n.283+24T>C) c.370+24T>C (n.370+24T>C) | |
| X | g.154996949A>T | CA2466857747 | F8 | c.388+24T>A (n.388+24T>A) c.*174+24T>A (n.*174+24T>A) c.283+24T>A (n.283+24T>A) c.370+24T>A (n.370+24T>A) | dbSNP |
| X | g.154996950C>T | CA2695170235 | F8 | c.388+23G>A (n.388+23G>A) c.*174+23G>A (n.*174+23G>A) c.283+23G>A (n.283+23G>A) c.370+23G>A (n.370+23G>A) | gnomAD v4 |
| X | g.154996953T>C | CA10568597 | F8 | c.388+20A>G (n.388+20A>G) c.*174+20A>G (n.*174+20A>G) c.283+20A>G (n.283+20A>G) c.370+20A>G (n.370+20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154996953T= | CA2466857748 | F8 | c.388+20A= (n.388+20A=) c.*174+20A= (n.*174+20A=) c.283+20A= (n.283+20A=) c.370+20A= (n.370+20A=) | |
| X | g.154996955G>A | CA2695170236 | F8 | c.388+18C>T (n.388+18C>T) c.*174+18C>T (n.*174+18C>T) c.283+18C>T (n.283+18C>T) c.370+18C>T (n.370+18C>T) | gnomAD v4 |
| X | g.154996956G>C | CA2695170237 | F8 | c.388+17C>G (n.388+17C>G) c.*174+17C>G (n.*174+17C>G) c.283+17C>G (n.283+17C>G) c.370+17C>G (n.370+17C>G) | gnomAD v4 |
| X | g.154996958G>T | CA2572784059 | F8 | c.388+15C>A (n.388+15C>A) c.*174+15C>A (n.*174+15C>A) c.283+15C>A (n.283+15C>A) c.370+15C>A (n.370+15C>A) | |
| X | g.154996959G>A | CA2695170238 | F8 | c.388+14C>T (n.388+14C>T) c.*174+14C>T (n.*174+14C>T) c.283+14C>T (n.283+14C>T) c.370+14C>T (n.370+14C>T) | gnomAD v4 |
| X | g.154996959G>C | CA2695170239 | F8 | c.388+14C>G (n.388+14C>G) c.*174+14C>G (n.*174+14C>G) c.283+14C>G (n.283+14C>G) c.370+14C>G (n.370+14C>G) | gnomAD v4 |
| X | g.154996959G= | CA2466857749 | F8 | c.388+14C= (n.388+14C=) c.*174+14C= (n.*174+14C=) c.283+14C= (n.283+14C=) c.370+14C= (n.370+14C=) | |
| X | g.154996959G>T | CA10568598 | F8 | c.388+14C>A (n.388+14C>A) c.*174+14C>A (n.*174+14C>A) c.283+14C>A (n.283+14C>A) c.370+14C>A (n.370+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154996960G>A | CA2579744904 | F8 | c.388+13C>T (n.388+13C>T) c.*174+13C>T (n.*174+13C>T) c.283+13C>T (n.283+13C>T) c.370+13C>T (n.370+13C>T) | |
| X | g.154996962A>T | CA2506892968 | F8 | c.388+11T>A (n.388+11T>A) c.*174+11T>A (n.*174+11T>A) c.283+11T>A (n.283+11T>A) c.370+11T>A (n.370+11T>A) | |
| X | g.154996964T>C | CA2531951221 | F8 | c.388+9A>G (n.388+9A>G) c.*174+9A>G (n.*174+9A>G) c.283+9A>G (n.283+9A>G) c.370+9A>G (n.370+9A>G) | |
| X | g.154996967A>C | CA2695170240 | F8 | c.388+6T>G (n.388+6T>G) c.*174+6T>G (n.*174+6T>G) c.283+6T>G (n.283+6T>G) c.370+6T>G (n.370+6T>G) | gnomAD v4 |
| X | g.154996967A>G | CA2695170241 | F8 | c.388+6T>C (n.388+6T>C) c.*174+6T>C (n.*174+6T>C) c.283+6T>C (n.283+6T>C) c.370+6T>C (n.370+6T>C) | gnomAD v4 |
| X | g.154996967A>T | CA2695170242 | F8 | c.388+6T>A (n.388+6T>A) c.*174+6T>A (n.*174+6T>A) c.283+6T>A (n.283+6T>A) c.370+6T>A (n.370+6T>A) | gnomAD v4 |
| X | g.154996969_154996972del | CA2695238473 | F8 | c.388+3_388+6del (n.388+3_388+6del) c.*174+3_*174+6del (n.*174+3_*174+6del) c.283+3_283+6del (n.283+3_283+6del) c.370+3_370+6del (n.370+3_370+6del) | |
| X | g.154996968C>A | CA2695238474 | F8 | c.388+5G>T (n.388+5G>T) c.*174+5G>T (n.*174+5G>T) c.283+5G>T (n.283+5G>T) c.370+5G>T (n.370+5G>T) | |
| X | g.154996968C= | CA2466857750 | F8 | c.388+5G= (n.388+5G=) c.*174+5G= (n.*174+5G=) c.283+5G= (n.283+5G=) c.370+5G= (n.370+5G=) | |
| X | g.154996968C>G | CA2695238475 | F8 | c.388+5G>C (n.388+5G>C) c.*174+5G>C (n.*174+5G>C) c.283+5G>C (n.283+5G>C) c.370+5G>C (n.370+5G>C) | |
| X | g.154996968C>T | CA873357439 | F8 | c.388+5G>A (n.388+5G>A) c.*174+5G>A (n.*174+5G>A) c.283+5G>A (n.283+5G>A) c.370+5G>A (n.370+5G>A) | dbSNP |
| X | g.154996969del | CA2695238476 | F8 | c.388+4del (n.388+4del) c.*174+4del (n.*174+4del) c.283+4del (n.283+4del) c.370+4del (n.370+4del) | |
| X | g.154996970C= | CA2466857751 | F8 | c.388+3G= (n.388+3G=) c.*174+3G= (n.*174+3G=) c.283+3G= (n.283+3G=) c.370+3G= (n.370+3G=) | |
| X | g.154996970C>T | CA645250350 | F8 | c.388+3G>A (n.388+3G>A) c.*174+3G>A (n.*174+3G>A) c.283+3G>A (n.283+3G>A) c.370+3G>A (n.370+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154996971_154996973del | CA2695238477 | F8 | c.388+1_388+3del c.*174+1_*174+3del c.283+1_283+3del c.370+1_370+3del | |
| X | g.154996971A>C | CA414919858 | F8 | c.388+2T>G (n.388+2T>G) c.*174+2T>G (n.*174+2T>G) c.283+2T>G (n.283+2T>G) c.370+2T>G (n.370+2T>G) | |
| X | g.154996971A>G | CA414919859 | F8 | c.388+2T>C (n.388+2T>C) c.*174+2T>C (n.*174+2T>C) c.283+2T>C (n.283+2T>C) c.370+2T>C (n.370+2T>C) | |
| X | g.154996971A>T | CA414919860 | F8 | c.388+2T>A (n.388+2T>A) c.*174+2T>A (n.*174+2T>A) c.283+2T>A (n.283+2T>A) c.370+2T>A (n.370+2T>A) | |
| X | g.154996972C>A | CA414919861 | F8 | c.388+1G>T (n.388+1G>T) c.*174+1G>T (n.*174+1G>T) c.283+1G>T (n.283+1G>T) c.370+1G>T (n.370+1G>T) | |
| X | g.154996972C= | CA2466857752 | F8 | c.388+1G= (n.388+1G=) c.*174+1G= (n.*174+1G=) c.283+1G= (n.283+1G=) c.370+1G= (n.370+1G=) | |
| X | g.154996972C>G | CA414919862 | F8 | c.388+1G>C (n.388+1G>C) c.*174+1G>C (n.*174+1G>C) c.283+1G>C (n.283+1G>C) c.370+1G>C (n.370+1G>C) | |
| X | g.154996972C>T | CA414919863 | F8 | c.388+1G>A (n.388+1G>A) c.*174+1G>A (n.*174+1G>A) c.283+1G>A (n.283+1G>A) c.370+1G>A (n.370+1G>A) | ClinVar dbSNP |
| X | g.154996973C>A | CA414919864 | F8 | c.388G>T (p.Gly130Ter) c.*174G>T (n.*174G>T) c.283G>T (p.Gly95Ter) c.370G>T (p.Gly124Ter) | |
| X | g.154996973C= | CA2466857753 | F8 | c.388G= (p.Gly130=) c.*174G= (n.*174G=) c.283G= (p.Gly95=) c.370G= (p.Gly124=) | |
| X | g.154996973C>G | CA255059 | F8 | c.388G>C (p.Gly130Arg) c.*174G>C (n.*174G>C) c.283G>C (p.Gly95Arg) c.370G>C (p.Gly124Arg) | ClinVar dbSNP |
| X | g.154996973C>T | CA414919865 | F8 | c.388G>A (p.Gly130Arg) c.*174G>A (n.*174G>A) c.283G>A (p.Gly95Arg) c.370G>A (p.Gly124Arg) | |
| X | g.154996974C>A | CA414919867 | F8 | c.387G>T (p.Glu129Asp) c.*173G>T (n.*173G>T) c.282G>T (p.Glu94Asp) c.369G>T (p.Glu123Asp) | COSMIC COSMIC |
| X | g.154996974C= | CA2466857754 | F8 | c.387G= (p.Glu129=) c.*173G= (n.*173G=) c.282G= (p.Glu94=) c.369G= (p.Glu123=) | |
| X | g.154996974C>G | CA414919866 | F8 | c.387G>C (p.Glu129Asp) c.*173G>C (n.*173G>C) c.282G>C (p.Glu94Asp) c.369G>C (p.Glu123Asp) | dbSNP |
| X | g.154996974C>T | CA519384091 | F8 | c.387G>A (p.Glu129=) c.*173G>A (n.*173G>A) c.282G>A (p.Glu94=) c.369G>A (p.Glu123=) | gnomAD v4 |
| X | g.154996975T>A | CA414919868 | F8 | c.386A>T (p.Glu129Val) c.*172A>T (n.*172A>T) c.281A>T (p.Glu94Val) c.368A>T (p.Glu123Val) | |
| X | g.154996975T>C | CA414919869 | F8 | c.386A>G (p.Glu129Gly) c.*172A>G (n.*172A>G) c.281A>G (p.Glu94Gly) c.368A>G (p.Glu123Gly) | |
| X | g.154996975T>G | CA414919870 | F8 | c.386A>C (p.Glu129Ala) c.*172A>C (n.*172A>C) c.281A>C (p.Glu94Ala) c.368A>C (p.Glu123Ala) | |
| X | g.154996976C>A | CA414919871 | F8 | c.385G>T (p.Glu129Ter) c.*171G>T (n.*171G>T) c.280G>T (p.Glu94Ter) c.367G>T (p.Glu123Ter) | |
| X | g.154996976C>G | CA414919872 | F8 | c.385G>C (p.Glu129Gln) c.*171G>C (n.*171G>C) c.280G>C (p.Glu94Gln) c.367G>C (p.Glu123Gln) | |
| X | g.154996976C>T | CA414919873 | F8 | c.385G>A (p.Glu129Lys) c.*171G>A (n.*171G>A) c.280G>A (p.Glu94Lys) c.367G>A (p.Glu123Lys) | |
| X | g.154996977A= | CA2466857755 | F8 | c.384T= (p.Ser128=) c.*170T= (n.*170T=) c.279T= (p.Ser93=) c.366T= (p.Ser122=) | |
| X | g.154996977A>C | CA337112252 | F8 | c.384T>G (p.Ser128=) c.*170T>G (n.*170T>G) c.279T>G (p.Ser93=) c.366T>G (p.Ser122=) | dbSNP gnomAD v4 |
| X | g.154996977A>G | CA519384092 | F8 | c.384T>C (p.Ser128=) c.*170T>C (n.*170T>C) c.279T>C (p.Ser93=) c.366T>C (p.Ser122=) | |
| X | g.154996977A>T | CA519384093 | F8 | c.384T>A (p.Ser128=) c.*170T>A (n.*170T>A) c.279T>A (p.Ser93=) c.366T>A (p.Ser122=) | gnomAD v4 |
| X | g.154996978G>A | CA414919874 | F8 | c.383C>T (p.Ser128Phe) c.*169C>T (n.*169C>T) c.278C>T (p.Ser93Phe) c.365C>T (p.Ser122Phe) | COSMIC COSMIC |
| X | g.154996978G>C | CA414919875 | F8 | c.383C>G (p.Ser128Cys) c.*169C>G (n.*169C>G) c.278C>G (p.Ser93Cys) c.365C>G (p.Ser122Cys) | |
| X | g.154996978G>T | CA414919876 | F8 | c.383C>A (p.Ser128Tyr) c.*169C>A (n.*169C>A) c.278C>A (p.Ser93Tyr) c.365C>A (p.Ser122Tyr) | COSMIC COSMIC |
| X | g.154996979A= | CA2466857756 | F8 | c.382T= (p.Ser128=) c.*168T= (n.*168T=) c.277T= (p.Ser93=) c.364T= (p.Ser122=) | |
| X | g.154996979A>C | CA414919877 | F8 | c.382T>G (p.Ser128Ala) c.*168T>G (n.*168T>G) c.277T>G (p.Ser93Ala) c.364T>G (p.Ser122Ala) | |
| X | g.154996979A>G | CA414919878 | F8 | c.382T>C (p.Ser128Pro) c.*168T>C (n.*168T>C) c.277T>C (p.Ser93Pro) c.364T>C (p.Ser122Pro) | ClinVar dbSNP |
| X | g.154996979A>T | CA414919879 | F8 | c.382T>A (p.Ser128Thr) c.*168T>A (n.*168T>A) c.277T>A (p.Ser93Thr) c.364T>A (p.Ser122Thr) | |
| X | g.154996980A>C | CA519384094 | F8 | c.381T>G (p.Ala127=) c.*167T>G (n.*167T>G) c.276T>G (p.Ala92=) c.363T>G (p.Ala121=) | |
| X | g.154996980A>G | CA519384095 | F8 | c.381T>C (p.Ala127=) c.*167T>C (n.*167T>C) c.276T>C (p.Ala92=) c.363T>C (p.Ala121=) | |
| X | g.154996980A>T | CA519384096 | F8 | c.381T>A (p.Ala127=) c.*167T>A (n.*167T>A) c.276T>A (p.Ala92=) c.363T>A (p.Ala121=) | |
| X | g.154996981G>A | CA414919880 | F8 | c.380C>T (p.Ala127Val) c.*166C>T (n.*166C>T) c.275C>T (p.Ala92Val) c.362C>T (p.Ala121Val) | gnomAD v4 |
| X | g.154996981G>C | CA414919882 | F8 | c.380C>G (p.Ala127Gly) c.*166C>G (n.*166C>G) c.275C>G (p.Ala92Gly) c.362C>G (p.Ala121Gly) | |
| X | g.154996981G>T | CA414919881 | F8 | c.380C>A (p.Ala127Asp) c.*166C>A (n.*166C>A) c.275C>A (p.Ala92Asp) c.362C>A (p.Ala121Asp) | |
| X | g.154996981_154996982delinsGC | CA2466857757 | F8 | c.379_380delinsGC (p.Ala127=) c.*165_*166delinsGC (n.*165_*166delinsGC) c.274_275delinsGC (p.Ala92=) c.361_362delinsGC (p.Ala121=) | |
| X | g.154996982del | CA873357473 | F8 | c.379del (p.Ala127LeufsTer?) c.*165del (n.*165del) c.274del (p.Ala92LeufsTer?) c.361del (p.Ala121LeufsTer?) | ClinVar dbSNP |
| X | g.154996982C>A | CA414919883 | F8 | c.379G>T (p.Ala127Ser) c.*165G>T (n.*165G>T) c.274G>T (p.Ala92Ser) c.361G>T (p.Ala121Ser) | gnomAD v4 |
| X | g.154996982C>G | CA414919884 | F8 | c.379G>C (p.Ala127Pro) c.*165G>C (n.*165G>C) c.274G>C (p.Ala92Pro) c.361G>C (p.Ala121Pro) | |
| X | g.154996982C>T | CA414919885 | F8 | c.379G>A (p.Ala127Thr) c.*165G>A (n.*165G>A) c.274G>A (p.Ala92Thr) c.361G>A (p.Ala121Thr) | |
| X | g.154996983T>A | CA414919886 | F8 | c.378A>T (p.Lys126Asn) c.*164A>T (n.*164A>T) c.273A>T (p.Lys91Asn) c.360A>T (p.Lys120Asn) | |
| X | g.154996983T>C | CA519384097 | F8 | c.378A>G (p.Lys126=) c.*164A>G (n.*164A>G) c.273A>G (p.Lys91=) c.360A>G (p.Lys120=) | |
| X | g.154996983T>G | CA414919887 | F8 | c.378A>C (p.Lys126Asn) c.*164A>C (n.*164A>C) c.273A>C (p.Lys91Asn) c.360A>C (p.Lys120Asn) | |
| X | g.154996984T>A | CA414919888 | F8 | c.377A>T (p.Lys126Ile) c.*163A>T (n.*163A>T) c.272A>T (p.Lys91Ile) c.359A>T (p.Lys120Ile) | |
| X | g.154996984T>C | CA414919889 | F8 | c.377A>G (p.Lys126Arg) c.*163A>G (n.*163A>G) c.272A>G (p.Lys91Arg) c.359A>G (p.Lys120Arg) | ClinVar dbSNP |
| X | g.154996984T>G | CA414919890 | F8 | c.377A>C (p.Lys126Thr) c.*163A>C (n.*163A>C) c.272A>C (p.Lys91Thr) c.359A>C (p.Lys120Thr) | |
| X | g.154996984T= | CA2466857758 | F8 | c.377A= (p.Lys126=) c.*163A= (n.*163A=) c.272A= (p.Lys91=) c.359A= (p.Lys120=) | |
| X | g.154996985T>A | CA414919891 | F8 | c.376A>T (p.Lys126Ter) c.*162A>T (n.*162A>T) c.271A>T (p.Lys91Ter) c.358A>T (p.Lys120Ter) | |
| X | g.154996985T>C | CA414919892 | F8 | c.376A>G (p.Lys126Glu) c.*162A>G (n.*162A>G) c.271A>G (p.Lys91Glu) c.358A>G (p.Lys120Glu) | |
| X | g.154996985T>G | CA414919893 | F8 | c.376A>C (p.Lys126Gln) c.*162A>C (n.*162A>C) c.271A>C (p.Lys91Gln) c.358A>C (p.Lys120Gln) | |
| X | g.154996986C>A | CA414919896 | F8 | c.375G>T (p.Trp125Cys) c.*161G>T (n.*161G>T) c.270G>T (p.Trp90Cys) c.357G>T (p.Trp119Cys) | COSMIC COSMIC |
| X | g.154996986C>G | CA414919895 | F8 | c.375G>C (p.Trp125Cys) c.*161G>C (n.*161G>C) c.270G>C (p.Trp90Cys) c.357G>C (p.Trp119Cys) | |
| X | g.154996986C>T | CA414919894 | F8 | c.375G>A (p.Trp125Ter) c.*161G>A (n.*161G>A) c.270G>A (p.Trp90Ter) c.357G>A (p.Trp119Ter) | |
| X | g.154996987C>A | CA414919897 | F8 | c.374G>T (p.Trp125Leu) c.*160G>T (n.*160G>T) c.269G>T (p.Trp90Leu) c.356G>T (p.Trp119Leu) | |
| X | g.154996987C>G | CA414919898 | F8 | c.374G>C (p.Trp125Ser) c.*160G>C (n.*160G>C) c.269G>C (p.Trp90Ser) c.356G>C (p.Trp119Ser) | |
| X | g.154996987C>T | CA414919899 | F8 | c.374G>A (p.Trp125Ter) c.*160G>A (n.*160G>A) c.269G>A (p.Trp90Ter) c.356G>A (p.Trp119Ter) | gnomAD v3 gnomAD v4 |
| X | g.154996988A>C | CA414919900 | F8 | c.373T>G (p.Trp125Gly) c.*159T>G (n.*159T>G) c.268T>G (p.Trp90Gly) c.355T>G (p.Trp119Gly) | |
| X | g.154996988A>G | CA414919901 | F8 | c.373T>C (p.Trp125Arg) c.*159T>C (n.*159T>C) c.268T>C (p.Trp90Arg) c.355T>C (p.Trp119Arg) | |
| X | g.154996988A>T | CA414919902 | F8 | c.373T>A (p.Trp125Arg) c.*159T>A (n.*159T>A) c.268T>A (p.Trp90Arg) c.355T>A (p.Trp119Arg) | |
| X | g.154996989G>A | CA519384098 | F8 | c.372C>T (p.Tyr124=) c.*158C>T (n.*158C>T) c.267C>T (p.Tyr89=) c.354C>T (p.Tyr118=) | |
| X | g.154996989G>C | CA414919903 | F8 | c.372C>G (p.Tyr124Ter) c.*158C>G (n.*158C>G) c.267C>G (p.Tyr89Ter) c.354C>G (p.Tyr118Ter) | dbSNP |
| X | g.154996989G= | CA2466857759 | F8 | c.372C= (p.Tyr124=) c.*158C= (n.*158C=) c.267C= (p.Tyr89=) c.354C= (p.Tyr118=) | |
| X | g.154996989G>T | CA414919904 | F8 | c.372C>A (p.Tyr124Ter) c.*158C>A (n.*158C>A) c.267C>A (p.Tyr89Ter) c.354C>A (p.Tyr118Ter) | |
| X | g.154996990T>A | CA414919905 | F8 | c.371A>T (p.Tyr124Phe) c.*157A>T (n.*157A>T) c.266A>T (p.Tyr89Phe) c.353A>T (p.Tyr118Phe) | |
| X | g.154996990T>C | CA414919906 | F8 | c.371A>G (p.Tyr124Cys) c.*157A>G (n.*157A>G) c.266A>G (p.Tyr89Cys) c.353A>G (p.Tyr118Cys) | |
| X | g.154996990T>G | CA414919907 | F8 | c.371A>C (p.Tyr124Ser) c.*157A>C (n.*157A>C) c.266A>C (p.Tyr89Ser) c.353A>C (p.Tyr118Ser) | |
| X | g.154996991A>C | CA414919910 | F8 | c.370T>G (p.Tyr124Asp) c.*156T>G (n.*156T>G) c.265T>G (p.Tyr89Asp) c.352T>G (p.Tyr118Asp) | |
| X | g.154996991A>G | CA414919908 | F8 | c.370T>C (p.Tyr124His) c.*156T>C (n.*156T>C) c.265T>C (p.Tyr89His) c.352T>C (p.Tyr118His) | COSMIC COSMIC |
| X | g.154996991A>T | CA414919909 | F8 | c.370T>A (p.Tyr124Asn) c.*156T>A (n.*156T>A) c.265T>A (p.Tyr89Asn) c.352T>A (p.Tyr118Asn) | |
| X | g.154996992G>A | CA519384099 | F8 | c.369C>T (p.Ser123=) c.*155C>T (n.*155C>T) c.264C>T (p.Ser88=) c.351C>T (p.Ser117=) | |
| X | g.154996992G>C | CA519384100 | F8 | c.369C>G (p.Ser123=) c.*155C>G (n.*155C>G) c.264C>G (p.Ser88=) c.351C>G (p.Ser117=) | |
| X | g.154996992G>T | CA519384101 | F8 | c.369C>A (p.Ser123=) c.*155C>A (n.*155C>A) c.264C>A (p.Ser88=) c.351C>A (p.Ser117=) | |
| X | g.154996993G>A | CA414919911 | F8 | c.368C>T (p.Ser123Phe) c.*154C>T (n.*154C>T) c.263C>T (p.Ser88Phe) c.350C>T (p.Ser117Phe) | |
| X | g.154996993G>C | CA414919913 | F8 | c.368C>G (p.Ser123Cys) c.*154C>G (n.*154C>G) c.263C>G (p.Ser88Cys) c.350C>G (p.Ser117Cys) | |
| X | g.154996993G>T | CA414919912 | F8 | c.368C>A (p.Ser123Tyr) c.*154C>A (n.*154C>A) c.263C>A (p.Ser88Tyr) c.350C>A (p.Ser117Tyr) | |
| X | g.154996994A>C | CA414919914 | F8 | c.367T>G (p.Ser123Ala) c.*153T>G (n.*153T>G) c.262T>G (p.Ser88Ala) c.349T>G (p.Ser117Ala) | |
| X | g.154996994A>G | CA414919916 | F8 | c.367T>C (p.Ser123Pro) c.*153T>C (n.*153T>C) c.262T>C (p.Ser88Pro) c.349T>C (p.Ser117Pro) | |
| X | g.154996994A>T | CA414919915 | F8 | c.367T>A (p.Ser123Thr) c.*153T>A (n.*153T>A) c.262T>A (p.Ser88Thr) c.349T>A (p.Ser117Thr) | |
| X | g.154996995T>A | CA519384102 | F8 | c.366A>T (p.Val122=) c.*152A>T (n.*152A>T) c.261A>T (p.Val87=) c.348A>T (p.Val116=) | |
| X | g.154996995T>C | CA519384103 | F8 | c.366A>G (p.Val122=) c.*152A>G (n.*152A>G) c.261A>G (p.Val87=) c.348A>G (p.Val116=) | |
| X | g.154996995T>G | CA519384104 | F8 | c.366A>C (p.Val122=) c.*152A>C (n.*152A>C) c.261A>C (p.Val87=) c.348A>C (p.Val116=) | |
| X | g.154996995_154996997delinsTAC | CA2466857760 | F8 | c.364_366delinsGTA (p.Val122=) c.*150_*152delinsGTA (n.*150_*152delinsGTA) c.259_261delinsGTA (p.Val87=) c.346_348delinsGTA (p.Val116=) | |
| X | g.154996996A= | CA2466857761 | F8 | c.365T= (p.Val122=) c.*151T= (n.*151T=) c.260T= (p.Val87=) c.347T= (p.Val116=) | |
| X | g.154996996A>C | CA414919917 | F8 | c.365T>G (p.Val122Gly) c.*151T>G (n.*151T>G) c.260T>G (p.Val87Gly) c.347T>G (p.Val116Gly) | |
| X | g.154996996A>G | CA10568599 | F8 | c.365T>C (p.Val122Ala) c.*151T>C (n.*151T>C) c.260T>C (p.Val87Ala) c.347T>C (p.Val116Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154996996A>T | CA414919918 | F8 | c.365T>A (p.Val122Glu) c.*151T>A (n.*151T>A) c.260T>A (p.Val87Glu) c.347T>A (p.Val116Glu) | |
| X | g.154996998_154996999del | CA255051 | F8 | c.364_365del (p.Val122IlefsTer7) c.*150_*151del (n.*150_*151del) c.259_260del (p.Val87IlefsTer7) c.346_347del (p.Val116IlefsTer7) | ClinVar dbSNP |
| X | g.154996997C>A | CA414919919 | F8 | c.364G>T (p.Val122Leu) c.*150G>T (n.*150G>T) c.259G>T (p.Val87Leu) c.346G>T (p.Val116Leu) | |
| X | g.154996997C= | CA2466857762 | F8 | c.364G= (p.Val122=) c.*150G= (n.*150G=) c.259G= (p.Val87=) c.346G= (p.Val116=) | |
| X | g.154996997C>G | CA414919920 | F8 | c.364G>C (p.Val122Leu) c.*150G>C (n.*150G>C) c.259G>C (p.Val87Leu) c.346G>C (p.Val116Leu) | |
| X | g.154996997C>T | CA414919921 | F8 | c.364G>A (p.Val122Ile) c.*150G>A (n.*150G>A) c.259G>A (p.Val87Ile) c.346G>A (p.Val116Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154996997delinsAA | CA2695238478 | F8 | c.364delinsTT (p.Val122PhefsTer8) c.*150delinsTT (n.*150delinsTT) c.259delinsTT (p.Val87PhefsTer8) c.346delinsTT (p.Val116PhefsTer8) | |
| X | g.154996998A>C | CA519384105 | F8 | c.363T>G (p.Gly121=) c.*149T>G (n.*149T>G) c.258T>G (p.Gly86=) c.345T>G (p.Gly115=) | |
| X | g.154996998A>G | CA519384107 | F8 | c.363T>C (p.Gly121=) c.*149T>C (n.*149T>C) c.258T>C (p.Gly86=) c.345T>C (p.Gly115=) | |
| X | g.154996998A>T | CA519384106 | F8 | c.363T>A (p.Gly121=) c.*149T>A (n.*149T>A) c.258T>A (p.Gly86=) c.345T>A (p.Gly115=) | |
| X | g.154996999C>A | CA414919922 | F8 | c.362G>T (p.Gly121Val) c.*148G>T (n.*148G>T) c.257G>T (p.Gly86Val) c.344G>T (p.Gly115Val) | |
| X | g.154996999C>G | CA414919923 | F8 | c.362G>C (p.Gly121Ala) c.*148G>C (n.*148G>C) c.257G>C (p.Gly86Ala) c.344G>C (p.Gly115Ala) | |
| X | g.154996999C>T | CA414919924 | F8 | c.362G>A (p.Gly121Asp) c.*148G>A (n.*148G>A) c.257G>A (p.Gly86Asp) c.344G>A (p.Gly115Asp) | |
| X | g.154997000C>A | CA414919927 | F8 | c.361G>T (p.Gly121Cys) c.*147G>T (n.*147G>T) c.256G>T (p.Gly86Cys) c.343G>T (p.Gly115Cys) | |
| X | g.154997000C>G | CA414919925 | F8 | c.361G>C (p.Gly121Arg) c.*147G>C (n.*147G>C) c.256G>C (p.Gly86Arg) c.343G>C (p.Gly115Arg) | |
| X | g.154997000C>T | CA414919926 | F8 | c.361G>A (p.Gly121Ser) c.*147G>A (n.*147G>A) c.256G>A (p.Gly86Ser) c.343G>A (p.Gly115Ser) | |
| X | g.154997000_154997001delinsCA | CA2466857763 | F8 | c.360_361delinsTG (p.Val120=) c.*146_*147delinsTG (n.*146_*147delinsTG) c.255_256delinsTG (p.Val85=) c.342_343delinsTG (p.Val114=) | |
| X | g.154997001A>C | CA519384108 | F8 | c.360T>G (p.Val120=) c.*146T>G (n.*146T>G) c.255T>G (p.Val85=) c.342T>G (p.Val114=) | |
| X | g.154997001A>G | CA519384109 | F8 | c.360T>C (p.Val120=) c.*146T>C (n.*146T>C) c.255T>C (p.Val85=) c.342T>C (p.Val114=) | |
| X | g.154997001A>T | CA519384110 | F8 | c.360T>A (p.Val120=) c.*146T>A (n.*146T>A) c.255T>A (p.Val85=) c.342T>A (p.Val114=) | |
| X | g.154997002del | CA873357517 | F8 | c.360del (p.Gly121ValfsTer?) c.*146del (n.*146del) c.255del (p.Gly86ValfsTer?) c.342del (p.Gly115ValfsTer?) | dbSNP |
| X | g.154997002A= | CA2466857764 | F8 | c.359T= (p.Val120=) c.*145T= (n.*145T=) c.254T= (p.Val85=) c.341T= (p.Val114=) | |
| X | g.154997002A>C | CA414919928 | F8 | c.359T>G (p.Val120Gly) c.*145T>G (n.*145T>G) c.254T>G (p.Val85Gly) c.341T>G (p.Val114Gly) | |
| X | g.154997002A>G | CA414919929 | F8 | c.359T>C (p.Val120Ala) c.*145T>C (n.*145T>C) c.254T>C (p.Val85Ala) c.341T>C (p.Val114Ala) | ClinVar dbSNP |
| X | g.154997002A>T | CA414919930 | F8 | c.359T>A (p.Val120Asp) c.*145T>A (n.*145T>A) c.254T>A (p.Val85Asp) c.341T>A (p.Val114Asp) | |
| X | g.154997003C>A | CA414919931 | F8 | c.358G>T (p.Val120Phe) c.*144G>T (n.*144G>T) c.253G>T (p.Val85Phe) c.340G>T (p.Val114Phe) | |
| X | g.154997003C>G | CA414919932 | F8 | c.358G>C (p.Val120Leu) c.*144G>C (n.*144G>C) c.253G>C (p.Val85Leu) c.340G>C (p.Val114Leu) | |
| X | g.154997003C>T | CA414919933 | F8 | c.358G>A (p.Val120Ile) c.*144G>A (n.*144G>A) c.253G>A (p.Val85Ile) c.340G>A (p.Val114Ile) | |
| X | g.154997004A>C | CA519384111 | F8 | c.357T>G (p.Ala119=) c.*143T>G (n.*143T>G) c.252T>G (p.Ala84=) c.339T>G (p.Ala113=) | |
| X | g.154997004A>G | CA519384112 | F8 | c.357T>C (p.Ala119=) c.*143T>C (n.*143T>C) c.252T>C (p.Ala84=) c.339T>C (p.Ala113=) | |
| X | g.154997004A>T | CA519384113 | F8 | c.357T>A (p.Ala119=) c.*143T>A (n.*143T>A) c.252T>A (p.Ala84=) c.339T>A (p.Ala113=) | |
| X | g.154997005G>A | CA414919934 | F8 | c.356C>T (p.Ala119Val) c.*142C>T (n.*142C>T) c.251C>T (p.Ala84Val) c.338C>T (p.Ala113Val) | COSMIC COSMIC |
| X | g.154997005G>C | CA414919935 | F8 | c.356C>G (p.Ala119Gly) c.*142C>G (n.*142C>G) c.251C>G (p.Ala84Gly) c.338C>G (p.Ala113Gly) | |
| X | g.154997005G>T | CA414919936 | F8 | c.356C>A (p.Ala119Asp) c.*142C>A (n.*142C>A) c.251C>A (p.Ala84Asp) c.338C>A (p.Ala113Asp) | |
| X | g.154997006C>A | CA414919939 | F8 | c.355G>T (p.Ala119Ser) c.*141G>T (n.*141G>T) c.250G>T (p.Ala84Ser) c.337G>T (p.Ala113Ser) | |
| X | g.154997006C= | CA2466857765 | F8 | c.355G= (p.Ala119=) c.*141G= (n.*141G=) c.250G= (p.Ala84=) c.337G= (p.Ala113=) | |
| X | g.154997006C>G | CA414919938 | F8 | c.355G>C (p.Ala119Pro) c.*141G>C (n.*141G>C) c.250G>C (p.Ala84Pro) c.337G>C (p.Ala113Pro) | ClinVar dbSNP gnomAD v4 |
| X | g.154997006C>T | CA414919937 | F8 | c.355G>A (p.Ala119Thr) c.*141G>A (n.*141G>A) c.250G>A (p.Ala84Thr) c.337G>A (p.Ala113Thr) | COSMIC COSMIC |
| X | g.154997007A>C | CA414919940 | F8 | c.354T>G (p.His118Gln) c.*140T>G (n.*140T>G) c.249T>G (p.His83Gln) c.336T>G (p.His112Gln) | |
| X | g.154997007A>G | CA519384114 | F8 | c.354T>C (p.His118=) c.*140T>C (n.*140T>C) c.249T>C (p.His83=) c.336T>C (p.His112=) | |
| X | g.154997007A>T | CA414919941 | F8 | c.354T>A (p.His118Gln) c.*140T>A (n.*140T>A) c.249T>A (p.His83Gln) c.336T>A (p.His112Gln) | COSMIC COSMIC |
| X | g.154997008T>A | CA414919942 | F8 | c.353A>T (p.His118Leu) c.*139A>T (n.*139A>T) c.248A>T (p.His83Leu) c.335A>T (p.His112Leu) | |
| X | g.154997008T>C | CA414919943 | F8 | c.353A>G (p.His118Arg) c.*139A>G (n.*139A>G) c.248A>G (p.His83Arg) c.335A>G (p.His112Arg) | dbSNP |
| X | g.154997008T>G | CA414919944 | F8 | c.353A>C (p.His118Pro) c.*139A>C (n.*139A>C) c.248A>C (p.His83Pro) c.335A>C (p.His112Pro) | dbSNP |
| X | g.154997008T= | CA2466857766 | F8 | c.353A= (p.His118=) c.*139A= (n.*139A=) c.248A= (p.His83=) c.335A= (p.His112=) | |
| X | g.154997011_154997017del | CA2695238479 | F8 | c.347_353del (p.Ser116MetfsTer?) c.*133_*139del (n.*133_*139del) c.242_248del (p.Ser81MetfsTer?) c.329_335del (p.Ser110MetfsTer?) | |
| X | g.154997009del | CA2695238480 | F8 | c.352del (p.His118MetfsTer?) c.*138del (n.*138del) c.247del (p.His83MetfsTer?) c.334del (p.His112MetfsTer?) | |
| X | g.154997009G>A | CA414919945 | F8 | c.352C>T (p.His118Tyr) c.*138C>T (n.*138C>T) c.247C>T (p.His83Tyr) c.334C>T (p.His112Tyr) | |
| X | g.154997009G>C | CA414919946 | F8 | c.352C>G (p.His118Asp) c.*138C>G (n.*138C>G) c.247C>G (p.His83Asp) c.334C>G (p.His112Asp) | |
| X | g.154997009G>T | CA414919947 | F8 | c.352C>A (p.His118Asn) c.*138C>A (n.*138C>A) c.247C>A (p.His83Asn) c.334C>A (p.His112Asn) | |
| X | g.154997010A>C | CA519384115 | F8 | c.351T>G (p.Leu117=) c.*137T>G (n.*137T>G) c.246T>G (p.Leu82=) c.333T>G (p.Leu111=) | |
| X | g.154997010A>G | CA519384116 | F8 | c.351T>C (p.Leu117=) c.*137T>C (n.*137T>C) c.246T>C (p.Leu82=) c.333T>C (p.Leu111=) | |
| X | g.154997010A>T | CA519384117 | F8 | c.351T>A (p.Leu117=) c.*137T>A (n.*137T>A) c.246T>A (p.Leu82=) c.333T>A (p.Leu111=) | |
| X | g.154997011A= | CA2466857767 | F8 | c.350T= (p.Leu117=) c.*136T= (n.*136T=) c.245T= (p.Leu82=) c.332T= (p.Leu111=) | |
| X | g.154997011A>C | CA255058 | F8 | c.350T>G (p.Leu117Arg) c.*136T>G (n.*136T>G) c.245T>G (p.Leu82Arg) c.332T>G (p.Leu111Arg) | ClinVar dbSNP |
| X | g.154997011A>G | CA414919948 | F8 | c.350T>C (p.Leu117Pro) c.*136T>C (n.*136T>C) c.245T>C (p.Leu82Pro) c.332T>C (p.Leu111Pro) | |
| X | g.154997011A>T | CA414919949 | F8 | c.350T>A (p.Leu117His) c.*136T>A (n.*136T>A) c.245T>A (p.Leu82His) c.332T>A (p.Leu111His) | |
| X | g.154997012G>A | CA10568600 | F8 | c.349C>T (p.Leu117Phe) c.*135C>T (n.*135C>T) c.244C>T (p.Leu82Phe) c.331C>T (p.Leu111Phe) | dbSNP ExAC COSMIC COSMIC |
| X | g.154997012G>C | CA414919950 | F8 | c.349C>G (p.Leu117Val) c.*135C>G (n.*135C>G) c.244C>G (p.Leu82Val) c.331C>G (p.Leu111Val) | |
| X | g.154997012G= | CA2466857768 | F8 | c.349C= (p.Leu117=) c.*135C= (n.*135C=) c.244C= (p.Leu82=) c.331C= (p.Leu111=) | |
| X | g.154997012G>T | CA414919951 | F8 | c.349C>A (p.Leu117Ile) c.*135C>A (n.*135C>A) c.244C>A (p.Leu82Ile) c.331C>A (p.Leu111Ile) | |
| X | g.154997013A>C | CA414919952 | F8 | c.348T>G (p.Ser116Arg) c.*134T>G (n.*134T>G) c.243T>G (p.Ser81Arg) c.330T>G (p.Ser110Arg) | |
| X | g.154997013A>G | CA519384118 | F8 | c.348T>C (p.Ser116=) c.*134T>C (n.*134T>C) c.243T>C (p.Ser81=) c.330T>C (p.Ser110=) | |
| X | g.154997013A>T | CA414919953 | F8 | c.348T>A (p.Ser116Arg) c.*134T>A (n.*134T>A) c.243T>A (p.Ser81Arg) c.330T>A (p.Ser110Arg) | |
| X | g.154997013_154997014dup | CA2695238481 | F8 | c.347_348dup (p.Leu117ValfsTer?) c.*133_*134dup (n.*133_*134dup) c.242_243dup (p.Leu82ValfsTer?) c.329_330dup (p.Leu111ValfsTer?) | |
| X | g.154997014C>A | CA414919954 | F8 | c.347G>T (p.Ser116Ile) c.*133G>T (n.*133G>T) c.242G>T (p.Ser81Ile) c.329G>T (p.Ser110Ile) | dbSNP gnomAD v4 |
| X | g.154997014C= | CA2466857769 | F8 | c.347G= (p.Ser116=) c.*133G= (n.*133G=) c.242G= (p.Ser81=) c.329G= (p.Ser110=) | |
| X | g.154997014C>G | CA414919955 | F8 | c.347G>C (p.Ser116Thr) c.*133G>C (n.*133G>C) c.242G>C (p.Ser81Thr) c.329G>C (p.Ser110Thr) | COSMIC COSMIC |
| X | g.154997014C>T | CA414919956 | F8 | c.347G>A (p.Ser116Asn) c.*133G>A (n.*133G>A) c.242G>A (p.Ser81Asn) c.329G>A (p.Ser110Asn) | |
| X | g.154997014_154997018del | CA2695238482 | F8 | c.343_347del (p.Val115SerfsTer13) c.*129_*133del (n.*129_*133del) c.238_242del (p.Val80SerfsTer13) c.325_329del (p.Val109SerfsTer13) | |
| X | g.154997015T>A | CA414919957 | F8 | c.346A>T (p.Ser116Cys) c.*132A>T (n.*132A>T) c.241A>T (p.Ser81Cys) c.328A>T (p.Ser110Cys) | |
| X | g.154997015T>C | CA414919958 | F8 | c.346A>G (p.Ser116Gly) c.*132A>G (n.*132A>G) c.241A>G (p.Ser81Gly) c.328A>G (p.Ser110Gly) | |
| X | g.154997015T>G | CA414919959 | F8 | c.346A>C (p.Ser116Arg) c.*132A>C (n.*132A>C) c.241A>C (p.Ser81Arg) c.328A>C (p.Ser110Arg) | COSMIC COSMIC |
| X | g.154997016G>A | CA519384119 | F8 | c.345C>T (p.Val115=) c.*131C>T (n.*131C>T) c.240C>T (p.Val80=) c.327C>T (p.Val109=) | |
| X | g.154997016G>C | CA519384120 | F8 | c.345C>G (p.Val115=) c.*131C>G (n.*131C>G) c.240C>G (p.Val80=) c.327C>G (p.Val109=) | |
| X | g.154997016G>T | CA519384121 | F8 | c.345C>A (p.Val115=) c.*131C>A (n.*131C>A) c.240C>A (p.Val80=) c.327C>A (p.Val109=) | |
| X | g.154997017A= | CA2466857770 | F8 | c.344T= (p.Val115=) c.*130T= (n.*130T=) c.239T= (p.Val80=) c.326T= (p.Val109=) | |
| X | g.154997017A>C | CA414919960 | F8 | c.344T>G (p.Val115Gly) c.*130T>G (n.*130T>G) c.239T>G (p.Val80Gly) c.326T>G (p.Val109Gly) | |
| X | g.154997017A>G | CA414919961 | F8 | c.344T>C (p.Val115Ala) c.*130T>C (n.*130T>C) c.239T>C (p.Val80Ala) c.326T>C (p.Val109Ala) | dbSNP |
| X | g.154997017A>T | CA414919962 | F8 | c.344T>A (p.Val115Asp) c.*130T>A (n.*130T>A) c.239T>A (p.Val80Asp) c.326T>A (p.Val109Asp) | COSMIC COSMIC |
| X | g.154997018C>A | CA414919965 | F8 | c.343G>T (p.Val115Phe) c.*129G>T (n.*129G>T) c.238G>T (p.Val80Phe) c.325G>T (p.Val109Phe) | |
| X | g.154997018C= | CA2466857771 | F8 | c.343G= (p.Val115=) c.*129G= (n.*129G=) c.238G= (p.Val80=) c.325G= (p.Val109=) | |
| X | g.154997018C>G | CA414919964 | F8 | c.343G>C (p.Val115Leu) c.*129G>C (n.*129G>C) c.238G>C (p.Val80Leu) c.325G>C (p.Val109Leu) | dbSNP |
| X | g.154997018C>T | CA414919963 | F8 | c.343G>A (p.Val115Ile) c.*129G>A (n.*129G>A) c.238G>A (p.Val80Ile) c.325G>A (p.Val109Ile) | dbSNP gnomAD v4 |
| X | g.154997019A>C | CA519384122 | F8 | c.342T>G (p.Pro114=) c.*128T>G (n.*128T>G) c.237T>G (p.Pro79=) c.324T>G (p.Pro108=) | |
| X | g.154997019A>G | CA519384124 | F8 | c.342T>C (p.Pro114=) c.*128T>C (n.*128T>C) c.237T>C (p.Pro79=) c.324T>C (p.Pro108=) | |
| X | g.154997019A>T | CA519384123 | F8 | c.342T>A (p.Pro114=) c.*128T>A (n.*128T>A) c.237T>A (p.Pro79=) c.324T>A (p.Pro108=) | |
| X | g.154997020G>A | CA414919968 | F8 | c.341C>T (p.Pro114Leu) c.*127C>T (n.*127C>T) c.236C>T (p.Pro79Leu) c.323C>T (p.Pro108Leu) | |
| X | g.154997020G>C | CA414919966 | F8 | c.341C>G (p.Pro114Arg) c.*127C>G (n.*127C>G) c.236C>G (p.Pro79Arg) c.323C>G (p.Pro108Arg) | |
| X | g.154997020G>T | CA414919967 | F8 | c.341C>A (p.Pro114His) c.*127C>A (n.*127C>A) c.236C>A (p.Pro79His) c.323C>A (p.Pro108His) | |
| X | g.154997022_154997025dup | CA2695238483 | F8 | c.338_341dup (p.Val115SerfsTer16) c.*124_*127dup (n.*124_*127dup) c.233_236dup (p.Val80SerfsTer16) c.320_323dup (p.Val109SerfsTer16) | |
| X | g.154997021G>A | CA414919969 | F8 | c.340C>T (p.Pro114Ser) c.*126C>T (n.*126C>T) c.235C>T (p.Pro79Ser) c.322C>T (p.Pro108Ser) | |
| X | g.154997021G>C | CA414919970 | F8 | c.340C>G (p.Pro114Ala) c.*126C>G (n.*126C>G) c.235C>G (p.Pro79Ala) c.322C>G (p.Pro108Ala) | |
| X | g.154997021G>T | CA414919971 | F8 | c.340C>A (p.Pro114Thr) c.*126C>A (n.*126C>A) c.235C>A (p.Pro79Thr) c.322C>A (p.Pro108Thr) | |
| X | g.154997022A>C | CA414919972 | F8 | c.339T>G (p.His113Gln) c.*125T>G (n.*125T>G) c.234T>G (p.His78Gln) c.321T>G (p.His107Gln) | |
| X | g.154997022A>G | CA519384125 | F8 | c.339T>C (p.His113=) c.*125T>C (n.*125T>C) c.234T>C (p.His78=) c.321T>C (p.His107=) | |
| X | g.154997022A>T | CA414919973 | F8 | c.339T>A (p.His113Gln) c.*125T>A (n.*125T>A) c.234T>A (p.His78Gln) c.321T>A (p.His107Gln) | |
| X | g.154997023T>A | CA414919974 | F8 | c.338A>T (p.His113Leu) c.*124A>T (n.*124A>T) c.233A>T (p.His78Leu) c.320A>T (p.His107Leu) | |
| X | g.154997023T>C | CA414919975 | F8 | c.338A>G (p.His113Arg) c.*124A>G (n.*124A>G) c.233A>G (p.His78Arg) c.320A>G (p.His107Arg) | |
| X | g.154997023T>G | CA414919976 | F8 | c.338A>C (p.His113Pro) c.*124A>C (n.*124A>C) c.233A>C (p.His78Pro) c.320A>C (p.His107Pro) | |
| X | g.154997024G>A | CA414919977 | F8 | c.337C>T (p.His113Tyr) c.*123C>T (n.*123C>T) c.232C>T (p.His78Tyr) c.319C>T (p.His107Tyr) | dbSNP |
| X | g.154997024G>C | CA414919978 | F8 | c.337C>G (p.His113Asp) c.*123C>G (n.*123C>G) c.232C>G (p.His78Asp) c.319C>G (p.His107Asp) | |
| X | g.154997024G= | CA2466857772 | F8 | c.337C= (p.His113=) c.*123C= (n.*123C=) c.232C= (p.His78=) c.319C= (p.His107=) | |
| X | g.154997024G>T | CA414919979 | F8 | c.337C>A (p.His113Asn) c.*123C>A (n.*123C>A) c.232C>A (p.His78Asn) c.319C>A (p.His107Asn) | COSMIC COSMIC |
| X | g.154997025G>A | CA519384126 | F8 | c.336C>T (p.Ser112=) c.*122C>T (n.*122C>T) c.231C>T (p.Ser77=) c.318C>T (p.Ser106=) | |
| X | g.154997025G>C | CA519384127 | F8 | c.336C>G (p.Ser112=) c.*122C>G (n.*122C>G) c.231C>G (p.Ser77=) c.318C>G (p.Ser106=) | |
| X | g.154997025G>T | CA519384128 | F8 | c.336C>A (p.Ser112=) c.*122C>A (n.*122C>A) c.231C>A (p.Ser77=) c.318C>A (p.Ser106=) |