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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.54999189G>A | CA116807 | BSND | c.3G>A (p.Met1Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999189G>C | CA340470413 | BSND | c.3G>C (p.Met1Ile) | |
| 1 | g.54999189G= | CA1140886546 | BSND | c.3G= (p.Met1=) | |
| 1 | g.54999189G>T | CA340470415 | BSND | c.3G>T (p.Met1Ile) | |
| 1 | g.54999190G>A | CA340470418 | BSND | c.4G>A (p.Ala2Thr) | dbSNP |
| 1 | g.54999190G>C | CA340470420 | BSND | c.4G>C (p.Ala2Pro) | |
| 1 | g.54999190G= | CA1167959251 | BSND | c.4G= (p.Ala2=) | |
| 1 | g.54999190G>T | CA340470417 | BSND | c.4G>T (p.Ala2Ser) | |
| 1 | g.54999191C>A | CA340470426 | BSND | c.5C>A (p.Ala2Asp) | |
| 1 | g.54999191C>G | CA340470423 | BSND | c.5C>G (p.Ala2Gly) | |
| 1 | g.54999191C>T | CA340470424 | BSND | c.5C>T (p.Ala2Val) | |
| 1 | g.54999192T>A | CA417956491 | BSND | c.6T>A (p.Ala2=) | |
| 1 | g.54999192T>C | CA417956492 | BSND | c.6T>C (p.Ala2=) | |
| 1 | g.54999192T>G | CA417956493 | BSND | c.6T>G (p.Ala2=) | |
| 1 | g.54999193G>A | CA340470428 | BSND | c.7G>A (p.Asp3Asn) | |
| 1 | g.54999193G>C | CA340470429 | BSND | c.7G>C (p.Asp3His) | |
| 1 | g.54999193G>T | CA340470430 | BSND | c.7G>T (p.Asp3Tyr) | |
| 1 | g.54999194A>C | CA340470435 | BSND | c.8A>C (p.Asp3Ala) | |
| 1 | g.54999194A>G | CA340470434 | BSND | c.8A>G (p.Asp3Gly) | |
| 1 | g.54999194A>T | CA340470432 | BSND | c.8A>T (p.Asp3Val) | |
| 1 | g.54999195C>A | CA871188 | BSND | c.9C>A (p.Asp3Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999195C= | CA1141784228 | BSND | c.9C= (p.Asp3=) | |
| 1 | g.54999195C>G | CA22764037 | BSND | c.9C>G (p.Asp3Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999195C>T | CA871187 | BSND | c.9C>T (p.Asp3=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999196G>A | CA871189 | BSND | c.10G>A (p.Glu4Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999196G>C | CA340470442 | BSND | c.10G>C (p.Glu4Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999196G= | CA1141580808 | BSND | c.10G= (p.Glu4=) | |
| 1 | g.54999196G>T | CA116814 | BSND | c.10G>T (p.Glu4Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999196_54999199delinsGAGA | CA1167959252 | BSND | c.10_13delinsGAGA (p.Glu4=) | |
| 1 | g.54999197A= | CA1167959253 | BSND | c.11A= (p.Glu4=) | |
| 1 | g.54999197A>C | CA340470450 | BSND | c.11A>C (p.Glu4Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999197A>G | CA340470446 | BSND | c.11A>G (p.Glu4Gly) | |
| 1 | g.54999197A>T | CA340470448 | BSND | c.11A>T (p.Glu4Val) | |
| 1 | g.54999200_54999202del | CA523275344 | BSND | c.14_16del (p.Lys5del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999198G>A | CA417956497 | BSND | c.12G>A (p.Glu4=) | gnomAD v4 |
| 1 | g.54999198G>C | CA340470452 | BSND | c.12G>C (p.Glu4Asp) | |
| 1 | g.54999198G>T | CA340470454 | BSND | c.12G>T (p.Glu4Asp) | |
| 1 | g.54999199A>C | CA340470456 | BSND | c.13A>C (p.Lys5Gln) | |
| 1 | g.54999199A>G | CA340470458 | BSND | c.13A>G (p.Lys5Glu) | |
| 1 | g.54999199A>T | CA340470460 | BSND | c.13A>T (p.Lys5Ter) | |
| 1 | g.54999200A>C | CA340470461 | BSND | c.14A>C (p.Lys5Thr) | |
| 1 | g.54999200A>G | CA340470462 | BSND | c.14A>G (p.Lys5Arg) | |
| 1 | g.54999200A>T | CA340470463 | BSND | c.14A>T (p.Lys5Met) | |
| 1 | g.54999201G>A | CA417956499 | BSND | c.15G>A (p.Lys5=) | |
| 1 | g.54999201G>C | CA340470464 | BSND | c.15G>C (p.Lys5Asn) | |
| 1 | g.54999201G>T | CA340470469 | BSND | c.15G>T (p.Lys5Asn) | |
| 1 | g.54999202A= | CA1143476367 | BSND | c.16A= (p.Thr6=) | |
| 1 | g.54999202A>C | CA340470472 | BSND | c.16A>C (p.Thr6Pro) | |
| 1 | g.54999202A>G | CA871190 | BSND | c.16A>G (p.Thr6Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999202A>T | CA22764045 | BSND | c.16A>T (p.Thr6Ser) | dbSNP |
| 1 | g.54999202_54999203delinsAC | CA1167959254 | BSND | c.16_17delinsAC (p.Thr6=) | |
| 1 | g.54999203C>A | CA871192 | BSND | c.17C>A (p.Thr6Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999203C= | CA1167959255 | BSND | c.17C= (p.Thr6=) | |
| 1 | g.54999203C>G | CA340470476 | BSND | c.17C>G (p.Thr6Ser) | gnomAD v4 |
| 1 | g.54999203C>T | CA340470481 | BSND | c.17C>T (p.Thr6Ile) | gnomAD v4 COSMIC |
| 1 | g.54999204del | CA871191 | BSND | c.18del (p.Phe7SerfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999204C>A | CA417956503 | BSND | c.18C>A (p.Thr6=) | |
| 1 | g.54999204C= | CA1167959256 | BSND | c.18C= (p.Thr6=) | |
| 1 | g.54999204C>G | CA417956504 | BSND | c.18C>G (p.Thr6=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999204C>T | CA417956505 | BSND | c.18C>T (p.Thr6=) | |
| 1 | g.54999205T>A | CA340470488 | BSND | c.19T>A (p.Phe7Ile) | |
| 1 | g.54999205T>C | CA340470486 | BSND | c.19T>C (p.Phe7Leu) | gnomAD v4 |
| 1 | g.54999205T>G | CA340470487 | BSND | c.19T>G (p.Phe7Val) | |
| 1 | g.54999206T>A | CA340470490 | BSND | c.20T>A (p.Phe7Tyr) | dbSNP |
| 1 | g.54999206T>C | CA340470493 | BSND | c.20T>C (p.Phe7Ser) | |
| 1 | g.54999206T>G | CA340470494 | BSND | c.20T>G (p.Phe7Cys) | |
| 1 | g.54999206T= | CA1167959257 | BSND | c.20T= (p.Phe7=) | |
| 1 | g.54999207C>A | CA340470497 | BSND | c.21C>A (p.Phe7Leu) | |
| 1 | g.54999207C>G | CA340470499 | BSND | c.21C>G (p.Phe7Leu) | |
| 1 | g.54999207C>T | CA417956506 | BSND | c.21C>T (p.Phe7=) | COSMIC |
| 1 | g.54999208C>A | CA417956507 | BSND | c.22C>A (p.Arg8=) | dbSNP |
| 1 | g.54999208C= | CA1140886547 | BSND | c.22C= (p.Arg8=) | |
| 1 | g.54999208C>G | CA340470501 | BSND | c.22C>G (p.Arg8Gly) | ClinVar |
| 1 | g.54999208C>T | CA116806 | BSND | c.22C>T (p.Arg8Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999209G>A | CA871193 | BSND | c.23G>A (p.Arg8Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999209G>C | CA340470507 | BSND | c.23G>C (p.Arg8Pro) | |
| 1 | g.54999209G= | CA1140886548 | BSND | c.23G= (p.Arg8=) | |
| 1 | g.54999209G>T | CA116810 | BSND | c.23G>T (p.Arg8Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.54999210G>A | CA417956508 | BSND | c.24G>A (p.Arg8=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999210G>C | CA417956509 | BSND | c.24G>C (p.Arg8=) | |
| 1 | g.54999210G= | CA1167959258 | BSND | c.24G= (p.Arg8=) | |
| 1 | g.54999210G>T | CA417956510 | BSND | c.24G>T (p.Arg8=) | ClinVar dbSNP |
| 1 | g.54999211A>C | CA340470516 | BSND | c.25A>C (p.Ile9Leu) | |
| 1 | g.54999211A>G | CA340470511 | BSND | c.25A>G (p.Ile9Val) | |
| 1 | g.54999211A>T | CA340470514 | BSND | c.25A>T (p.Ile9Phe) | gnomAD v4 |
| 1 | g.54999212T>A | CA340470519 | BSND | c.26T>A (p.Ile9Asn) | |
| 1 | g.54999212T>C | CA340470520 | BSND | c.26T>C (p.Ile9Thr) | |
| 1 | g.54999212T>G | CA340470522 | BSND | c.26T>G (p.Ile9Ser) | |
| 1 | g.54999213C>A | CA417956512 | BSND | c.27C>A (p.Ile9=) | gnomAD v4 |
| 1 | g.54999213C= | CA1143828391 | BSND | c.27C= (p.Ile9=) | |
| 1 | g.54999213C>G | CA340470524 | BSND | c.27C>G (p.Ile9Met) | |
| 1 | g.54999213C>T | CA871194 | BSND | c.27C>T (p.Ile9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999214G>A | CA116809 | BSND | c.28G>A (p.Gly10Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999214G>C | CA340470530 | BSND | c.28G>C (p.Gly10Arg) | |
| 1 | g.54999214G= | CA1140886549 | BSND | c.28G= (p.Gly10=) | |
| 1 | g.54999214G>T | CA340470532 | BSND | c.28G>T (p.Gly10Cys) | |
| 1 | g.54999215G>A | CA340470535 | BSND | c.29G>A (p.Gly10Asp) | gnomAD v4 |
| 1 | g.54999215G>C | CA340470536 | BSND | c.29G>C (p.Gly10Ala) | |
| 1 | g.54999215G>T | CA340470538 | BSND | c.29G>T (p.Gly10Val) | |
| 1 | g.54999216C>A | CA417956514 | BSND | c.30C>A (p.Gly10=) | |
| 1 | g.54999216C= | CA1167959259 | BSND | c.30C= (p.Gly10=) | |
| 1 | g.54999216C>G | CA417956515 | BSND | c.30C>G (p.Gly10=) | |
| 1 | g.54999216C>T | CA417956516 | BSND | c.30C>T (p.Gly10=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999217T>A | CA871195 | BSND | c.31T>A (p.Phe11Ile) | dbSNP ExAC |
| 1 | g.54999217T>C | CA340470544 | BSND | c.31T>C (p.Phe11Leu) | gnomAD v4 |
| 1 | g.54999217T>G | CA340470540 | BSND | c.31T>G (p.Phe11Val) | |
| 1 | g.54999217T= | CA1167959260 | BSND | c.31T= (p.Phe11=) | |
| 1 | g.54999218T>A | CA340470547 | BSND | c.32T>A (p.Phe11Tyr) | |
| 1 | g.54999218T>C | CA340470551 | BSND | c.32T>C (p.Phe11Ser) | |
| 1 | g.54999218T>G | CA340470548 | BSND | c.32T>G (p.Phe11Cys) | |
| 1 | g.54999219C>A | CA340470553 | BSND | c.33C>A (p.Phe11Leu) | COSMIC |
| 1 | g.54999219C>G | CA340470554 | BSND | c.33C>G (p.Phe11Leu) | |
| 1 | g.54999219C>T | CA417956519 | BSND | c.33C>T (p.Phe11=) | dbSNP gnomAD v4 |
| 1 | g.54999220A= | CA1167959261 | BSND | c.34A= (p.Ile12=) | |
| 1 | g.54999220A>C | CA340470556 | BSND | c.34A>C (p.Ile12Leu) | |
| 1 | g.54999220A>G | CA340470559 | BSND | c.34A>G (p.Ile12Val) | dbSNP gnomAD v4 |
| 1 | g.54999220A>T | CA340470561 | BSND | c.34A>T (p.Ile12Phe) | |
| 1 | g.54999221T>A | CA340470562 | BSND | c.35T>A (p.Ile12Asn) | |
| 1 | g.54999221T>C | CA116812 | BSND | c.35T>C (p.Ile12Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999221T>G | CA340470565 | BSND | c.35T>G (p.Ile12Ser) | |
| 1 | g.54999221T= | CA1141580809 | BSND | c.35T= (p.Ile12=) | |
| 1 | g.54999222T>A | CA417956521 | BSND | c.36T>A (p.Ile12=) | |
| 1 | g.54999222T>C | CA871196 | BSND | c.36T>C (p.Ile12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999222T>G | CA340470568 | BSND | c.36T>G (p.Ile12Met) | |
| 1 | g.54999222T= | CA1167959262 | BSND | c.36T= (p.Ile12=) | |
| 1 | g.54999223G>A | CA340470572 | BSND | c.37G>A (p.Val13Met) | |
| 1 | g.54999223G>C | CA340470574 | BSND | c.37G>C (p.Val13Leu) | |
| 1 | g.54999223G>T | CA340470576 | BSND | c.37G>T (p.Val13Leu) | |
| 1 | g.54999224T>A | CA340470579 | BSND | c.38T>A (p.Val13Glu) | |
| 1 | g.54999224T>C | CA340470583 | BSND | c.38T>C (p.Val13Ala) | |
| 1 | g.54999224T>G | CA340470581 | BSND | c.38T>G (p.Val13Gly) | |
| 1 | g.54999225G>A | CA417956525 | BSND | c.39G>A (p.Val13=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999225G>C | CA417956526 | BSND | c.39G>C (p.Val13=) | gnomAD v4 |
| 1 | g.54999225G= | CA1143370389 | BSND | c.39G= (p.Val13=) | |
| 1 | g.54999225G>T | CA871197 | BSND | c.39G>T (p.Val13=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999226C>A | CA340470587 | BSND | c.40C>A (p.Leu14Met) | |
| 1 | g.54999226C>G | CA340470588 | BSND | c.40C>G (p.Leu14Val) | |
| 1 | g.54999226C>T | CA417956527 | BSND | c.40C>T (p.Leu14=) | |
| 1 | g.54999227T>A | CA340470589 | BSND | c.41T>A (p.Leu14Gln) | |
| 1 | g.54999227T>C | CA340470590 | BSND | c.41T>C (p.Leu14Pro) | |
| 1 | g.54999227T>G | CA340470591 | BSND | c.41T>G (p.Leu14Arg) | |
| 1 | g.54999228G>A | CA417956528 | BSND | c.42G>A (p.Leu14=) | |
| 1 | g.54999228G>C | CA417956529 | BSND | c.42G>C (p.Leu14=) | |
| 1 | g.54999228G>T | CA417956530 | BSND | c.42G>T (p.Leu14=) | |
| 1 | g.54999229G>A | CA340470592 | BSND | c.43G>A (p.Gly15Arg) | dbSNP |
| 1 | g.54999229G>C | CA340470593 | BSND | c.43G>C (p.Gly15Arg) | |
| 1 | g.54999229G= | CA1167959263 | BSND | c.43G= (p.Gly15=) | |
| 1 | g.54999229G>T | CA340470594 | BSND | c.43G>T (p.Gly15Trp) | |
| 1 | g.54999230G>A | CA340470597 | BSND | c.44G>A (p.Gly15Glu) | gnomAD v4 |
| 1 | g.54999230G>C | CA340470596 | BSND | c.44G>C (p.Gly15Ala) | |
| 1 | g.54999230G>T | CA340470595 | BSND | c.44G>T (p.Gly15Val) | |
| 1 | g.54999231G>A | CA417956533 | BSND | c.45G>A (p.Gly15=) | ClinVar |
| 1 | g.54999231G>C | CA417956534 | BSND | c.45G>C (p.Gly15=) | |
| 1 | g.54999231G>T | CA417956532 | BSND | c.45G>T (p.Gly15=) | |
| 1 | g.54999231_54999232insATTTTCCTGCTGGCG | CA2645834263 | BSND | c.45_46insATTTTCCTGCTGGCG (p.Gly15_Leu16insIlePheLeuLeuAla) | gnomAD v4 |
| 1 | g.54999232C>A | CA340470598 | BSND | c.46C>A (p.Leu16Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999232C= | CA1167959264 | BSND | c.46C= (p.Leu16=) | |
| 1 | g.54999232C>G | CA340470599 | BSND | c.46C>G (p.Leu16Val) | |
| 1 | g.54999232C>T | CA340470600 | BSND | c.46C>T (p.Leu16Phe) | gnomAD v3 gnomAD v4 |
| 1 | g.54999233T>A | CA340470601 | BSND | c.47T>A (p.Leu16His) | |
| 1 | g.54999233T>C | CA340470602 | BSND | c.47T>C (p.Leu16Pro) | |
| 1 | g.54999233T>G | CA340470603 | BSND | c.47T>G (p.Leu16Arg) | |
| 1 | g.54999236del | CA2645834264 | BSND | c.50del (p.Phe17SerfsTer10) | gnomAD v4 |
| 1 | g.54999234T>A | CA417956537 | BSND | c.48T>A (p.Leu16=) | |
| 1 | g.54999234T>C | CA417956538 | BSND | c.48T>C (p.Leu16=) | |
| 1 | g.54999234T>G | CA417956539 | BSND | c.48T>G (p.Leu16=) | |
| 1 | g.54999235T>A | CA340470604 | BSND | c.49T>A (p.Phe17Ile) | |
| 1 | g.54999235T>C | CA340470605 | BSND | c.49T>C (p.Phe17Leu) | dbSNP |
| 1 | g.54999235T>G | CA340470606 | BSND | c.49T>G (p.Phe17Val) | |
| 1 | g.54999235T= | CA1167959265 | BSND | c.49T= (p.Phe17=) | |
| 1 | g.54999236T>A | CA340470607 | BSND | c.50T>A (p.Phe17Tyr) | |
| 1 | g.54999236T>C | CA340470608 | BSND | c.50T>C (p.Phe17Ser) | |
| 1 | g.54999236T>G | CA340470609 | BSND | c.50T>G (p.Phe17Cys) | |
| 1 | g.54999237C>A | CA340470610 | BSND | c.51C>A (p.Phe17Leu) | |
| 1 | g.54999237C>G | CA340470611 | BSND | c.51C>G (p.Phe17Leu) | |
| 1 | g.54999237C>T | CA417956540 | BSND | c.51C>T (p.Phe17=) | ClinVar dbSNP |
| 1 | g.54999238C>A | CA340470612 | BSND | c.52C>A (p.Leu18Met) | |
| 1 | g.54999238C= | CA1167959266 | BSND | c.52C= (p.Leu18=) | |
| 1 | g.54999238C>G | CA871198 | BSND | c.52C>G (p.Leu18Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999238C>T | CA417956544 | BSND | c.52C>T (p.Leu18=) | |
| 1 | g.54999239T>A | CA340470613 | BSND | c.53T>A (p.Leu18Gln) | |
| 1 | g.54999239T>C | CA340470614 | BSND | c.53T>C (p.Leu18Pro) | gnomAD v4 |
| 1 | g.54999239T>G | CA340470615 | BSND | c.53T>G (p.Leu18Arg) | gnomAD v4 |
| 1 | g.54999240G>A | CA417956545 | BSND | c.54G>A (p.Leu18=) | |
| 1 | g.54999240G>C | CA417956546 | BSND | c.54G>C (p.Leu18=) | |
| 1 | g.54999240G>T | CA417956547 | BSND | c.54G>T (p.Leu18=) | |
| 1 | g.54999241C>A | CA340470616 | BSND | c.55C>A (p.Leu19Met) | |
| 1 | g.54999241C= | CA1167959267 | BSND | c.55C= (p.Leu19=) | |
| 1 | g.54999241C>G | CA871199 | BSND | c.55C>G (p.Leu19Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999241C>T | CA417956549 | BSND | c.55C>T (p.Leu19=) | gnomAD v4 |
| 1 | g.54999242T>A | CA340470617 | BSND | c.56T>A (p.Leu19Gln) | |
| 1 | g.54999242T>C | CA871200 | BSND | c.56T>C (p.Leu19Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999242T>G | CA340470618 | BSND | c.56T>G (p.Leu19Arg) | |
| 1 | g.54999242T= | CA1148716657 | BSND | c.56T= (p.Leu19=) | |
| 1 | g.54999243G>A | CA871201 | BSND | c.57G>A (p.Leu19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999243G>C | CA417956552 | BSND | c.57G>C (p.Leu19=) | |
| 1 | g.54999243G= | CA1167959268 | BSND | c.57G= (p.Leu19=) | |
| 1 | g.54999243G>T | CA417956553 | BSND | c.57G>T (p.Leu19=) | |
| 1 | g.54999244G>A | CA340470619 | BSND | c.58G>A (p.Ala20Thr) | |
| 1 | g.54999244G>C | CA340470620 | BSND | c.58G>C (p.Ala20Pro) | |
| 1 | g.54999244G= | CA1167959269 | BSND | c.58G= (p.Ala20=) | |
| 1 | g.54999244G>T | CA340470621 | BSND | c.58G>T (p.Ala20Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999245C>A | CA340470623 | BSND | c.59C>A (p.Ala20Asp) | |
| 1 | g.54999245C>G | CA340470624 | BSND | c.59C>G (p.Ala20Gly) | |
| 1 | g.54999245C>T | CA340470622 | BSND | c.59C>T (p.Ala20Val) | gnomAD v4 |
| 1 | g.54999246C>A | CA417956554 | BSND | c.60C>A (p.Ala20=) | gnomAD v4 |
| 1 | g.54999246C>G | CA417956555 | BSND | c.60C>G (p.Ala20=) | dbSNP |
| 1 | g.54999246C>T | CA417956557 | BSND | c.60C>T (p.Ala20=) | gnomAD v4 |
| 1 | g.54999247C>A | CA340470626 | BSND | c.61C>A (p.Leu21Ile) | |
| 1 | g.54999247C>G | CA340470625 | BSND | c.61C>G (p.Leu21Val) | |
| 1 | g.54999247C>T | CA340470627 | BSND | c.61C>T (p.Leu21Phe) | |
| 1 | g.54999248T>A | CA340470628 | BSND | c.62T>A (p.Leu21His) | |
| 1 | g.54999248T>C | CA340470629 | BSND | c.62T>C (p.Leu21Pro) | |
| 1 | g.54999248T>G | CA340470630 | BSND | c.62T>G (p.Leu21Arg) | gnomAD v4 |
| 1 | g.54999249C>A | CA417956558 | BSND | c.63C>A (p.Leu21=) | |
| 1 | g.54999249C= | CA1141815975 | BSND | c.63C= (p.Leu21=) | |
| 1 | g.54999249C>G | CA417956559 | BSND | c.63C>G (p.Leu21=) | |
| 1 | g.54999249C>T | CA138604 | BSND | c.63C>T (p.Leu21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999250G>A | CA871202 | BSND | c.64G>A (p.Gly22Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999250G>C | CA871203 | BSND | c.64G>C (p.Gly22Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999250G= | CA1142029419 | BSND | c.64G= (p.Gly22=) | |
| 1 | g.54999250G>T | CA340470631 | BSND | c.64G>T (p.Gly22Cys) | |
| 1 | g.54999251G>A | CA871204 | BSND | c.65G>A (p.Gly22Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999251G>C | CA340470632 | BSND | c.65G>C (p.Gly22Ala) | |
| 1 | g.54999251G= | CA1147078078 | BSND | c.65G= (p.Gly22=) | |
| 1 | g.54999251G>T | CA340470633 | BSND | c.65G>T (p.Gly22Val) | |
| 1 | g.54999252T>A | CA417956565 | BSND | c.66T>A (p.Gly22=) | |
| 1 | g.54999252T>C | CA417956564 | BSND | c.66T>C (p.Gly22=) | ClinVar dbSNP |
| 1 | g.54999252T>G | CA417956563 | BSND | c.66T>G (p.Gly22=) | |
| 1 | g.54999253A>C | CA340470634 | BSND | c.67A>C (p.Thr23Pro) | |
| 1 | g.54999253A>G | CA340470635 | BSND | c.67A>G (p.Thr23Ala) | |
| 1 | g.54999253A>T | CA340470636 | BSND | c.67A>T (p.Thr23Ser) | |
| 1 | g.54999254C>A | CA340470637 | BSND | c.68C>A (p.Thr23Lys) | |
| 1 | g.54999254C= | CA1167959270 | BSND | c.68C= (p.Thr23=) | |
| 1 | g.54999254C>G | CA340470638 | BSND | c.68C>G (p.Thr23Arg) | |
| 1 | g.54999254C>T | CA871205 | BSND | c.68C>T (p.Thr23Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999255G>A | CA871206 | BSND | c.69G>A (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999255G>C | CA417956569 | BSND | c.69G>C (p.Thr23=) | |
| 1 | g.54999255G= | CA1143610060 | BSND | c.69G= (p.Thr23=) | |
| 1 | g.54999255G>T | CA417956568 | BSND | c.69G>T (p.Thr23=) | |
| 1 | g.54999256T>A | CA340470639 | BSND | c.70T>A (p.Phe24Ile) | dbSNP |
| 1 | g.54999256T>C | CA340470640 | BSND | c.70T>C (p.Phe24Leu) | |
| 1 | g.54999256T>G | CA340470641 | BSND | c.70T>G (p.Phe24Val) | |
| 1 | g.54999257T>A | CA340470642 | BSND | c.71T>A (p.Phe24Tyr) | |
| 1 | g.54999257T>C | CA340470643 | BSND | c.71T>C (p.Phe24Ser) | |
| 1 | g.54999257T>G | CA340470644 | BSND | c.71T>G (p.Phe24Cys) | |
| 1 | g.54999258C>A | CA340470645 | BSND | c.72C>A (p.Phe24Leu) | |
| 1 | g.54999258C= | CA1167959271 | BSND | c.72C= (p.Phe24=) | |
| 1 | g.54999258C>G | CA340470646 | BSND | c.72C>G (p.Phe24Leu) | |
| 1 | g.54999258C>T | CA871207 | BSND | c.72C>T (p.Phe24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54999259C>A | CA340470648 | BSND | c.73C>A (p.Leu25Ile) | |
| 1 | g.54999259C>G | CA340470649 | BSND | c.73C>G (p.Leu25Val) | |
| 1 | g.54999259C>T | CA340470647 | BSND | c.73C>T (p.Leu25Phe) | gnomAD v4 |
| 1 | g.54999260T>A | CA340470650 | BSND | c.74T>A (p.Leu25His) | |
| 1 | g.54999260T>C | CA340470651 | BSND | c.74T>C (p.Leu25Pro) | COSMIC |
| 1 | g.54999260T>G | CA340470652 | BSND | c.74T>G (p.Leu25Arg) | |
| 1 | g.54999261C>A | CA417956573 | BSND | c.75C>A (p.Leu25=) | |
| 1 | g.54999261C= | CA1167959272 | BSND | c.75C= (p.Leu25=) | |
| 1 | g.54999261C>G | CA417956574 | BSND | c.75C>G (p.Leu25=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999261C>T | CA871208 | BSND | c.75C>T (p.Leu25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999262A>C | CA340470653 | BSND | c.76A>C (p.Met26Leu) | |
| 1 | g.54999262A>G | CA340470654 | BSND | c.76A>G (p.Met26Val) | |
| 1 | g.54999262A>T | CA340470655 | BSND | c.76A>T (p.Met26Leu) | |
| 1 | g.54999263T>A | CA340470656 | BSND | c.77T>A (p.Met26Lys) | COSMIC |
| 1 | g.54999263T>C | CA340470657 | BSND | c.77T>C (p.Met26Thr) | |
| 1 | g.54999263T>G | CA340470658 | BSND | c.77T>G (p.Met26Arg) | |
| 1 | g.54999264G>A | CA340470659 | BSND | c.78G>A (p.Met26Ile) | |
| 1 | g.54999264G>C | CA340470660 | BSND | c.78G>C (p.Met26Ile) | |
| 1 | g.54999264G>T | CA340470661 | BSND | c.78G>T (p.Met26Ile) | |
| 1 | g.54999265A>C | CA340470664 | BSND | c.79A>C (p.Ser27Arg) | |
| 1 | g.54999265A>G | CA340470663 | BSND | c.79A>G (p.Ser27Gly) | |
| 1 | g.54999265A>T | CA340470662 | BSND | c.79A>T (p.Ser27Cys) | |
| 1 | g.54999266G>A | CA340470665 | BSND | c.80G>A (p.Ser27Asn) | gnomAD v4 |
| 1 | g.54999266G>C | CA340470666 | BSND | c.80G>C (p.Ser27Thr) | |
| 1 | g.54999266G>T | CA340470667 | BSND | c.80G>T (p.Ser27Ile) | |
| 1 | g.54999267C>A | CA340470668 | BSND | c.81C>A (p.Ser27Arg) | |
| 1 | g.54999267C>G | CA340470669 | BSND | c.81C>G (p.Ser27Arg) | gnomAD v4 |
| 1 | g.54999267C>T | CA417956575 | BSND | c.81C>T (p.Ser27=) | |
| 1 | g.54999268C>A | CA340470670 | BSND | c.82C>A (p.His28Asn) | |
| 1 | g.54999268C>G | CA340470671 | BSND | c.82C>G (p.His28Asp) | gnomAD v4 |
| 1 | g.54999268C>T | CA340470672 | BSND | c.82C>T (p.His28Tyr) | |
| 1 | g.54999269A= | CA1167959273 | BSND | c.83A= (p.His28=) | |
| 1 | g.54999269A>C | CA340470673 | BSND | c.83A>C (p.His28Pro) | |
| 1 | g.54999269A>G | CA340470674 | BSND | c.83A>G (p.His28Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999269A>T | CA871209 | BSND | c.83A>T (p.His28Leu) | dbSNP ExAC |
| 1 | g.54999270T>A | CA340470675 | BSND | c.84T>A (p.His28Gln) | |
| 1 | g.54999270T>C | CA417956576 | BSND | c.84T>C (p.His28=) | ClinVar dbSNP |
| 1 | g.54999270T>G | CA340470676 | BSND | c.84T>G (p.His28Gln) | |
| 1 | g.54999271G>A | CA340470679 | BSND | c.85G>A (p.Asp29Asn) | |
| 1 | g.54999271G>C | CA340470678 | BSND | c.85G>C (p.Asp29His) | |
| 1 | g.54999271G>T | CA340470677 | BSND | c.85G>T (p.Asp29Tyr) | |
| 1 | g.54999272A>C | CA340470680 | BSND | c.86A>C (p.Asp29Ala) | |
| 1 | g.54999272A>G | CA340470682 | BSND | c.86A>G (p.Asp29Gly) | |
| 1 | g.54999272A>T | CA340470681 | BSND | c.86A>T (p.Asp29Val) | |
| 1 | g.54999273T>A | CA340470683 | BSND | c.87T>A (p.Asp29Glu) | |
| 1 | g.54999273T>C | CA871210 | BSND | c.87T>C (p.Asp29=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999273T>G | CA340470684 | BSND | c.87T>G (p.Asp29Glu) | |
| 1 | g.54999273T= | CA1167959274 | BSND | c.87T= (p.Asp29=) | |
| 1 | g.54999274C>A | CA417956577 | BSND | c.88C>A (p.Arg30=) | |
| 1 | g.54999274C= | CA1167959275 | BSND | c.88C= (p.Arg30=) | |
| 1 | g.54999274C>G | CA340470685 | BSND | c.88C>G (p.Arg30Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54999274C>T | CA871211 | BSND | c.88C>T (p.Arg30Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999275G>A | CA871212 | BSND | c.89G>A (p.Arg30Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54999275G>C | CA340470687 | BSND | c.89G>C (p.Arg30Pro) | |
| 1 | g.54999275G= | CA1143462176 | BSND | c.89G= (p.Arg30=) | |
| 1 | g.54999275G>T | CA340470686 | BSND | c.89G>T (p.Arg30Leu) | |
| 1 | g.54999276G>A | CA417956578 | BSND | c.90G>A (p.Arg30=) | |
| 1 | g.54999276G>C | CA417956579 | BSND | c.90G>C (p.Arg30=) | |
| 1 | g.54999276G>T | CA417956580 | BSND | c.90G>T (p.Arg30=) | |
| 1 | g.54999277C>A | CA340470688 | BSND | c.91C>A (p.Pro31Thr) | |
| 1 | g.54999277C= | CA1147281666 | BSND | c.91C= (p.Pro31=) | |
| 1 | g.54999277C>G | CA871213 | BSND | c.91C>G (p.Pro31Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999277C>T | CA340470689 | BSND | c.91C>T (p.Pro31Ser) | |
| 1 | g.54999278C>A | CA340470690 | BSND | c.92C>A (p.Pro31His) | |
| 1 | g.54999278C>G | CA340470691 | BSND | c.92C>G (p.Pro31Arg) | |
| 1 | g.54999278C>T | CA340470692 | BSND | c.92C>T (p.Pro31Leu) | gnomAD v4 |
| 1 | g.54999279C>A | CA417956581 | BSND | c.93C>A (p.Pro31=) | |
| 1 | g.54999279C>G | CA417956582 | BSND | c.93C>G (p.Pro31=) | gnomAD v4 |
| 1 | g.54999279C>T | CA417956583 | BSND | c.93C>T (p.Pro31=) | |
| 1 | g.54999280C>A | CA340470693 | BSND | c.94C>A (p.Gln32Lys) | |
| 1 | g.54999280C= | CA1167959276 | BSND | c.94C= (p.Gln32=) | |
| 1 | g.54999280C>G | CA340470695 | BSND | c.94C>G (p.Gln32Glu) | |
| 1 | g.54999280C>T | CA340470694 | BSND | c.94C>T (p.Gln32Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54999281A>C | CA340470696 | BSND | c.95A>C (p.Gln32Pro) | |
| 1 | g.54999281A>G | CA340470697 | BSND | c.95A>G (p.Gln32Arg) | |
| 1 | g.54999281A>T | CA340470698 | BSND | c.95A>T (p.Gln32Leu) | |
| 1 | g.54999282G>A | CA417956584 | BSND | c.96G>A (p.Gln32=) | |
| 1 | g.54999282G>C | CA340470699 | BSND | c.96G>C (p.Gln32His) | |
| 1 | g.54999282G>T | CA340470700 | BSND | c.96G>T (p.Gln32His) | gnomAD v4 |
| 1 | g.54999283G>A | CA871215 | BSND | c.97G>A (p.Val33Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.54999283G>C | CA871214 | BSND | c.97G>C (p.Val33Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999283G= | CA1167959277 | BSND | c.97G= (p.Val33=) | |
| 1 | g.54999283G>T | CA340470701 | BSND | c.97G>T (p.Val33Phe) | |
| 1 | g.54999284T>A | CA340470702 | BSND | c.98T>A (p.Val33Asp) | |
| 1 | g.54999284T>C | CA340470703 | BSND | c.98T>C (p.Val33Ala) | |
| 1 | g.54999284T>G | CA340470704 | BSND | c.98T>G (p.Val33Gly) | |
| 1 | g.54999285C>A | CA417956585 | BSND | c.99C>A (p.Val33=) | |
| 1 | g.54999285C= | CA1167959278 | BSND | c.99C= (p.Val33=) | |
| 1 | g.54999285C>G | CA871216 | BSND | c.99C>G (p.Val33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999285C>T | CA417956586 | BSND | c.99C>T (p.Val33=) | |
| 1 | g.54999286T>A | CA340470707 | BSND | c.100T>A (p.Tyr34Asn) | |
| 1 | g.54999286T>C | CA340470705 | BSND | c.100T>C (p.Tyr34His) | |
| 1 | g.54999286T>G | CA340470706 | BSND | c.100T>G (p.Tyr34Asp) | |
| 1 | g.54999286_54999287insTC | CA2537148652 | BSND | c.100_101insTC (p.Tyr34PhefsTer13) | |
| 1 | g.54999287A>C | CA340470708 | BSND | c.101A>C (p.Tyr34Ser) | |
| 1 | g.54999287A>G | CA340470709 | BSND | c.101A>G (p.Tyr34Cys) | |
| 1 | g.54999287A>T | CA340470710 | BSND | c.101A>T (p.Tyr34Phe) | |
| 1 | g.54999288C>A | CA340470712 | BSND | c.102C>A (p.Tyr34Ter) | |
| 1 | g.54999288C= | CA1141802094 | BSND | c.102C= (p.Tyr34=) | |
| 1 | g.54999288C>G | CA340470711 | BSND | c.102C>G (p.Tyr34Ter) | |
| 1 | g.54999288C>T | CA871217 | BSND | c.102C>T (p.Tyr34=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999289G>A | CA22764156 | BSND | c.103G>A (p.Gly35Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54999289G>C | CA22764181 | BSND | c.103G>C (p.Gly35Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54999289G= | CA1167959279 | BSND | c.103G= (p.Gly35=) | |
| 1 | g.54999289G>T | CA340470713 | BSND | c.103G>T (p.Gly35Cys) |