| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154860536_154860538delinsCCT | CA2466815010 | F8 | c.6794_6796delinsAGG (p.Gln2265=) c.527_529delinsAGG (p.Gln176=) c.389_391delinsAGG (p.Gln130=) c.6689_6691delinsAGG (p.Gln2230=) | |
| X | g.154860537_154860538del | CA255220 | F8 | c.6794_6795del (p.Gln2265ArgfsTer?) c.527_528del (p.Gln176ArgfsTer?) c.389_390del (p.Gln130ArgfsTer?) c.6689_6690del (p.Gln2230ArgfsTer?) | ClinVar dbSNP |
| X | g.154860538del | CA2695237135 | F8 | c.6794del (p.Gln2265ArgfsTer3) c.527del (p.Gln176ArgfsTer3) c.389del (p.Gln130ArgfsTer3) c.6689del (p.Gln2230ArgfsTer3) | |
| X | g.154860538T>A | CA414904181 | F8 | c.6794A>T (p.Gln2265Leu) c.527A>T (p.Gln176Leu) c.389A>T (p.Gln130Leu) c.6689A>T (p.Gln2230Leu) | |
| X | g.154860538T>C | CA255219 | F8 | c.6794A>G (p.Gln2265Arg) c.527A>G (p.Gln176Arg) c.389A>G (p.Gln130Arg) c.6689A>G (p.Gln2230Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.154860538T>G | CA414904180 | F8 | c.6794A>C (p.Gln2265Pro) c.527A>C (p.Gln176Pro) c.389A>C (p.Gln130Pro) c.6689A>C (p.Gln2230Pro) | |
| X | g.154860538T= | CA2466815013 | F8 | c.6794A= (p.Gln2265=) c.527A= (p.Gln176=) c.389A= (p.Gln130=) c.6689A= (p.Gln2230=) | |
| X | g.154860539G>A | CA414904188 | F8 | c.6793C>T (p.Gln2265Ter) c.526C>T (p.Gln176Ter) c.388C>T (p.Gln130Ter) c.6688C>T (p.Gln2230Ter) | |
| X | g.154860539G>C | CA414904195 | F8 | c.6793C>G (p.Gln2265Glu) c.526C>G (p.Gln176Glu) c.388C>G (p.Gln130Glu) c.6688C>G (p.Gln2230Glu) | COSMIC COSMIC |
| X | g.154860539G>T | CA414904200 | F8 | c.6793C>A (p.Gln2265Lys) c.526C>A (p.Gln176Lys) c.388C>A (p.Gln130Lys) c.6688C>A (p.Gln2230Lys) | |
| X | g.154860540A>C | CA519356230 | F8 | c.6792T>G (p.Thr2264=) c.525T>G (p.Thr175=) c.387T>G (p.Thr129=) c.6687T>G (p.Thr2229=) | |
| X | g.154860540A>G | CA519356227 | F8 | c.6792T>C (p.Thr2264=) c.525T>C (p.Thr175=) c.387T>C (p.Thr129=) c.6687T>C (p.Thr2229=) | gnomAD v4 |
| X | g.154860540A>T | CA519356228 | F8 | c.6792T>A (p.Thr2264=) c.525T>A (p.Thr175=) c.387T>A (p.Thr129=) c.6687T>A (p.Thr2229=) | |
| X | g.154860541G>A | CA414904204 | F8 | c.6791C>T (p.Thr2264Ile) c.524C>T (p.Thr175Ile) c.386C>T (p.Thr129Ile) c.6686C>T (p.Thr2229Ile) | dbSNP |
| X | g.154860541G>C | CA414904206 | F8 | c.6791C>G (p.Thr2264Ser) c.524C>G (p.Thr175Ser) c.386C>G (p.Thr129Ser) c.6686C>G (p.Thr2229Ser) | |
| X | g.154860541G= | CA2466815014 | F8 | c.6791C= (p.Thr2264=) c.524C= (p.Thr175=) c.386C= (p.Thr129=) c.6686C= (p.Thr2229=) | |
| X | g.154860541G>T | CA414904208 | F8 | c.6791C>A (p.Thr2264Asn) c.524C>A (p.Thr175Asn) c.386C>A (p.Thr129Asn) c.6686C>A (p.Thr2229Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154860542T>A | CA414904231 | F8 | c.6790A>T (p.Thr2264Ser) c.523A>T (p.Thr175Ser) c.385A>T (p.Thr129Ser) c.6685A>T (p.Thr2229Ser) | |
| X | g.154860542T>C | CA414904250 | F8 | c.6790A>G (p.Thr2264Ala) c.523A>G (p.Thr175Ala) c.385A>G (p.Thr129Ala) c.6685A>G (p.Thr2229Ala) | |
| X | g.154860542T>G | CA414904257 | F8 | c.6790A>C (p.Thr2264Pro) c.523A>C (p.Thr175Pro) c.385A>C (p.Thr129Pro) c.6685A>C (p.Thr2229Pro) | |
| X | g.154860544_154860547dup | CA2695167719 | F8 | c.6787_6790dup (p.Thr2264AsnfsTer?) c.520_523dup (p.Thr175AsnfsTer?) c.382_385dup (p.Thr129AsnfsTer?) c.6682_6685dup (p.Thr2229AsnfsTer?) | gnomAD v4 |
| X | g.154860543A>C | CA519356232 | F8 | c.6789T>G (p.Thr2263=) c.522T>G (p.Thr174=) c.384T>G (p.Thr128=) c.6684T>G (p.Thr2228=) | |
| X | g.154860543A>G | CA519356235 | F8 | c.6789T>C (p.Thr2263=) c.522T>C (p.Thr174=) c.384T>C (p.Thr128=) c.6684T>C (p.Thr2228=) | gnomAD v4 |
| X | g.154860543A>T | CA519356234 | F8 | c.6789T>A (p.Thr2263=) c.522T>A (p.Thr174=) c.384T>A (p.Thr128=) c.6684T>A (p.Thr2228=) | |
| X | g.154860544G>A | CA414904263 | F8 | c.6788C>T (p.Thr2263Ile) c.521C>T (p.Thr174Ile) c.383C>T (p.Thr128Ile) c.6683C>T (p.Thr2228Ile) | |
| X | g.154860544G>C | CA414904268 | F8 | c.6788C>G (p.Thr2263Ser) c.521C>G (p.Thr174Ser) c.383C>G (p.Thr128Ser) c.6683C>G (p.Thr2228Ser) | |
| X | g.154860544G>T | CA414904275 | F8 | c.6788C>A (p.Thr2263Asn) c.521C>A (p.Thr174Asn) c.383C>A (p.Thr128Asn) c.6683C>A (p.Thr2228Asn) | |
| X | g.154860544_154860546dup | CA2695237137 | F8 | c.6786_6788dup (p.Thr2263_Thr2264insThr) c.519_521dup (p.Thr174_Thr175insThr) c.381_383dup (p.Thr128_Thr129insThr) c.6681_6683dup (p.Thr2228_Thr2229insThr) | |
| X | g.154860546_154860554del | CA2695237136 | F8 | c.6780_6788del (p.Gly2261_Thr2263del) c.513_521del (p.Gly172_Thr174del) c.375_383del (p.Gly126_Thr128del) c.6675_6683del (p.Gly2226_Thr2228del) | |
| X | g.154860545T>A | CA414904286 | F8 | c.6787A>T (p.Thr2263Ser) c.520A>T (p.Thr174Ser) c.382A>T (p.Thr128Ser) c.6682A>T (p.Thr2228Ser) | |
| X | g.154860545T>C | CA414904282 | F8 | c.6787A>G (p.Thr2263Ala) c.520A>G (p.Thr174Ala) c.382A>G (p.Thr128Ala) c.6682A>G (p.Thr2228Ala) | |
| X | g.154860545T>G | CA414904280 | F8 | c.6787A>C (p.Thr2263Pro) c.520A>C (p.Thr174Pro) c.382A>C (p.Thr128Pro) c.6682A>C (p.Thr2228Pro) | |
| X | g.154860546T>A | CA519356237 | F8 | c.6786A>T (p.Val2262=) c.519A>T (p.Val173=) c.381A>T (p.Val127=) c.6681A>T (p.Val2227=) | |
| X | g.154860546T>C | CA519356238 | F8 | c.6786A>G (p.Val2262=) c.519A>G (p.Val173=) c.381A>G (p.Val127=) c.6681A>G (p.Val2227=) | dbSNP |
| X | g.154860546T>G | CA519356240 | F8 | c.6786A>C (p.Val2262=) c.519A>C (p.Val173=) c.381A>C (p.Val127=) c.6681A>C (p.Val2227=) | |
| X | g.154860546T= | CA2466815015 | F8 | c.6786A= (p.Val2262=) c.519A= (p.Val173=) c.381A= (p.Val127=) c.6681A= (p.Val2227=) | |
| X | g.154860547A>C | CA414904291 | F8 | c.6785T>G (p.Val2262Gly) c.518T>G (p.Val173Gly) c.380T>G (p.Val127Gly) c.6680T>G (p.Val2227Gly) | |
| X | g.154860547A>G | CA414904293 | F8 | c.6785T>C (p.Val2262Ala) c.518T>C (p.Val173Ala) c.380T>C (p.Val127Ala) c.6680T>C (p.Val2227Ala) | |
| X | g.154860547A>T | CA414904295 | F8 | c.6785T>A (p.Val2262Glu) c.518T>A (p.Val173Glu) c.380T>A (p.Val127Glu) c.6680T>A (p.Val2227Glu) | |
| X | g.154860548C>A | CA414904305 | F8 | c.6784G>T (p.Val2262Leu) c.517G>T (p.Val173Leu) c.379G>T (p.Val127Leu) c.6679G>T (p.Val2227Leu) | |
| X | g.154860548C>G | CA414904329 | F8 | c.6784G>C (p.Val2262Leu) c.517G>C (p.Val173Leu) c.379G>C (p.Val127Leu) c.6679G>C (p.Val2227Leu) | |
| X | g.154860548C>T | CA414904337 | F8 | c.6784G>A (p.Val2262Ile) c.517G>A (p.Val173Ile) c.379G>A (p.Val127Ile) c.6679G>A (p.Val2227Ile) | |
| X | g.154860549T>A | CA519356241 | F8 | c.6783A>T (p.Gly2261=) c.516A>T (p.Gly172=) c.378A>T (p.Gly126=) c.6678A>T (p.Gly2226=) | |
| X | g.154860549T>C | CA519356242 | F8 | c.6783A>G (p.Gly2261=) c.516A>G (p.Gly172=) c.378A>G (p.Gly126=) c.6678A>G (p.Gly2226=) | |
| X | g.154860549T>G | CA519356244 | F8 | c.6783A>C (p.Gly2261=) c.516A>C (p.Gly172=) c.378A>C (p.Gly126=) c.6678A>C (p.Gly2226=) | |
| X | g.154860550C>A | CA414904343 | F8 | c.6782G>T (p.Gly2261Val) c.515G>T (p.Gly172Val) c.377G>T (p.Gly126Val) c.6677G>T (p.Gly2226Val) | |
| X | g.154860550C>G | CA414904358 | F8 | c.6782G>C (p.Gly2261Ala) c.515G>C (p.Gly172Ala) c.377G>C (p.Gly126Ala) c.6677G>C (p.Gly2226Ala) | |
| X | g.154860550C>T | CA414904362 | F8 | c.6782G>A (p.Gly2261Glu) c.515G>A (p.Gly172Glu) c.377G>A (p.Gly126Glu) c.6677G>A (p.Gly2226Glu) | |
| X | g.154860551C>A | CA414904371 | F8 | c.6781G>T (p.Gly2261Ter) c.514G>T (p.Gly172Ter) c.376G>T (p.Gly126Ter) c.6676G>T (p.Gly2226Ter) | |
| X | g.154860551C>G | CA414904373 | F8 | c.6781G>C (p.Gly2261Arg) c.514G>C (p.Gly172Arg) c.376G>C (p.Gly126Arg) c.6676G>C (p.Gly2226Arg) |