| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598673_31598674delinsTG | CA2293889386 | TTR | c.442_443delinsTG (p.Ter148=) c.346_347delinsTG (p.Ter116=) c.556_557delinsTG (p.Ter186=) c.418_419delinsTG (p.Ter140=) | |
| 18 | g.31598674del | CA778418508 | TTR | c.443del (p.Ter148=) c.347del (p.Ter116=) c.557del (p.Ter186=) c.419del (p.Ter140=) | dbSNP |
| 18 | g.31598674G>A | CA503610979 | TTR | c.443G>A (p.Ter148=) c.347G>A (p.Ter116=) c.557G>A (p.Ter186=) c.419G>A (p.Ter140=) | |
| 18 | g.31598674G>C | CA402158317 | TTR | c.443G>C (p.Ter148Ser) c.347G>C (p.Ter116Ser) c.557G>C (p.Ter186Ser) c.419G>C (p.Ter140Ser) | |
| 18 | g.31598674G= | CA2293889387 | TTR | c.443G= (p.Ter148=) c.347G= (p.Ter116=) c.557G= (p.Ter186=) c.419G= (p.Ter140=) | |
| 18 | g.31598674G>T | CA402158318 | TTR | c.443G>T (p.Ter148Leu) c.347G>T (p.Ter116Leu) c.557G>T (p.Ter186Leu) c.419G>T (p.Ter140Leu) | |
| 18 | g.31598675A>C | CA402158321 | TTR | c.444A>C (p.Ter148Cys) c.348A>C (p.Ter116Cys) c.558A>C (p.Ter186Cys) c.420A>C (p.Ter140Cys) | |
| 18 | g.31598675A>G | CA402158319 | TTR | c.444A>G (p.Ter148Trp) c.348A>G (p.Ter116Trp) c.558A>G (p.Ter186Trp) c.420A>G (p.Ter140Trp) | |
| 18 | g.31598675A>T | CA402158320 | TTR | c.444A>T (p.Ter148Cys) c.348A>T (p.Ter116Cys) c.558A>T (p.Ter186Cys) c.420A>T (p.Ter140Cys) | |
| 18 | g.31598676G>A | CA778418521 | TTR | c.*1G>A (n.*1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598676G= | CA2293889388 | TTR | c.*1G= (n.*1G=) | |
| 18 | g.31598676G>T | CA2812000758 | TTR | c.*1G>T (n.*1G>T) | |
| 18 | g.31598677_31598686delinsGGACTTCTCC | CA2293889389 | TTR | c.*2_*11delinsGGACTTCTCC (n.*2_*11delinsGGACTTCTCC) | |
| 18 | g.31598678G>A | CA988926138 | TTR | c.*3G>A (n.*3G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598678G>C | CA2293889391 | TTR | c.*3G>C (n.*3G>C) | dbSNP |
| 18 | g.31598678G= | CA2293889390 | TTR | c.*3G= (n.*3G=) | |
| 18 | g.31598678_31598686del | CA132596 | TTR | c.*3_*11del (n.*3_*11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598679A= | CA2293889392 | TTR | c.*4A= (n.*4A=) | |
| 18 | g.31598679A>T | CA988926147 | TTR | c.*4A>T (n.*4A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598681T>C | CA2641410502 | TTR | c.*6T>C (n.*6T>C) | gnomAD v4 |
| 18 | g.31598682_31598685delinsTCTC | CA2293889393 | TTR | c.*7_*10delinsTCTC (n.*7_*10delinsTCTC) | |
| 18 | g.31598683C>A | CA2576480684 | TTR | c.*8C>A (n.*8C>A) | ClinVar gnomAD v4 |
| 18 | g.31598687_31598689del | CA16620684 | TTR | c.*12_*14del (n.*12_*14del) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31598685C= | CA2293889394 | TTR | c.*10C= (n.*10C=) | |
| 18 | g.31598685C>T | CA778418539 | TTR | c.*10C>T (n.*10C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598687_31598688insTCAGGT | CA2641410503 | TTR | c.*12_*13insTCAGGT (n.*12_*13insTCAGGT) | gnomAD v4 |
| 18 | g.31598688C= | CA2293889395 | TTR | c.*13C= (n.*13C=) | |
| 18 | g.31598688C>T | CA297742032 | TTR | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598690A= | CA2293889396 | TTR | c.*15A= (n.*15A=) | |
| 18 | g.31598690A>G | CA778418563 | TTR | c.*15A>G (n.*15A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598691G>C | CA2641410504 | TTR | c.*16G>C (n.*16G>C) | gnomAD v4 |
| 18 | g.31598692T>A | CA297742037 | TTR | c.*17T>A (n.*17T>A) | dbSNP |
| 18 | g.31598692T>C | CA2641410505 | TTR | c.*17T>C (n.*17T>C) | gnomAD v4 |
| 18 | g.31598692T= | CA2293889397 | TTR | c.*17T= (n.*17T=) | |
| 18 | g.31598693G>A | CA2641410506 | TTR | c.*18G>A (n.*18G>A) | gnomAD v4 |
| 18 | g.31598694G>T | CA2576480685 | TTR | c.*19G>T (n.*19G>T) | |
| 18 | g.31598695A>G | CA2576480686 | TTR | c.*20A>G (n.*20A>G) | gnomAD v4 |
| 18 | g.31598696C>A | CA8928517 | TTR | c.*21C>A (n.*21C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598696C= | CA2293889398 | TTR | c.*21C= (n.*21C=) | |
| 18 | g.31598696C>G | CA2581341167 | TTR | c.*21C>G (n.*21C>G) | gnomAD v4 |
| 18 | g.31598696C>T | CA297742056 | TTR | c.*21C>T (n.*21C>T) | dbSNP |
| 18 | g.31598697C= | CA2293889399 | TTR | c.*22C= (n.*22C=) | |
| 18 | g.31598697C>G | CA2641410508 | TTR | c.*22C>G (n.*22C>G) | gnomAD v4 |
| 18 | g.31598697C>T | CA297742065 | TTR | c.*22C>T (n.*22C>T) | dbSNP gnomAD v4 |
| 18 | g.31598697_31598698insAC | CA2641410507 | TTR | c.*22_*23insAC (n.*22_*23insAC) | gnomAD v4 |
| 18 | g.31598698T>A | CA2293889401 | TTR | c.*23T>A (n.*23T>A) | dbSNP gnomAD v4 |
| 18 | g.31598698T>C | CA2293889402 | TTR | c.*23T>C (n.*23T>C) | dbSNP gnomAD v4 |
| 18 | g.31598698T= | CA2293889400 | TTR | c.*23T= (n.*23T=) | |
| 18 | g.31598699G>A | CA629155255 | TTR | c.*24G>A (n.*24G>A) | dbSNP gnomAD v2 |
| 18 | g.31598699G= | CA2293889403 | TTR | c.*24G= (n.*24G=) | |
| 18 | g.31598702G= | CA2293889404 | TTR | c.*27G= (n.*27G=) | |
| 18 | g.31598702G>T | CA778418576 | TTR | c.*27G>T (n.*27G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598703G>A | CA2641410509 | TTR | c.*28G>A (n.*28G>A) | gnomAD v4 |
| 18 | g.31598705C= | CA2293889405 | TTR | c.*30C= (n.*30C=) | |
| 18 | g.31598705C>T | CA8928518 | TTR | c.*30C>T (n.*30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598706G>A | CA8928519 | TTR | c.*31G>A (n.*31G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598706G= | CA2293889406 | TTR | c.*31G= (n.*31G=) | |
| 18 | g.31598707A= | CA2293889407 | TTR | c.*32A= (n.*32A=) | |
| 18 | g.31598707A>G | CA629155257 | TTR | c.*32A>G (n.*32A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598708G>A | CA2641410510 | TTR | c.*33G>A (n.*33G>A) | gnomAD v4 |
| 18 | g.31598709G>A | CA629155258 | TTR | c.*34G>A (n.*34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598709G= | CA2293889408 | TTR | c.*34G= (n.*34G=) | |
| 18 | g.31598709G>T | CA2576480687 | TTR | c.*34G>T (n.*34G>T) | |
| 18 | g.31598710G>T | CA2812000769 | TTR | c.*35G>T (n.*35G>T) | |
| 18 | g.31598712T>C | CA2576480688 | TTR | c.*37T>C (n.*37T>C) | |
| 18 | g.31598713G>T | CA2812000770 | TTR | c.*38G>T (n.*38G>T) | |
| 18 | g.31598714G>A | CA2293889410 | TTR | c.*39G>A (n.*39G>A) | dbSNP |
| 18 | g.31598714G= | CA2293889409 | TTR | c.*39G= (n.*39G=) | |
| 18 | g.31598715G= | CA2293889411 | TTR | c.*40G= (n.*40G=) | |
| 18 | g.31598715G>T | CA8928520 | TTR | c.*40G>T (n.*40G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598717T>C | CA2576480689 | TTR | c.*42T>C (n.*42T>C) | |
| 18 | g.31598721A= | CA2293889412 | TTR | c.*46A= (n.*46A=) | |
| 18 | g.31598721A>C | CA778418601 | TTR | c.*46A>C (n.*46A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598721A>G | CA8928521 | TTR | c.*46A>G (n.*46A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598722T>A | CA8928523 | TTR | c.*47T>A (n.*47T>A) | dbSNP ExAC gnomAD v2 |
| 18 | g.31598722T>C | CA8928522 | TTR | c.*47T>C (n.*47T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598722T= | CA2293889413 | TTR | c.*47T= (n.*47T=) | |
| 18 | g.31598723G>C | CA8928524 | TTR | c.*48G>C (n.*48G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598723G= | CA2293889414 | TTR | c.*48G= (n.*48G=) | |
| 18 | g.31598727C>T | CA2576480690 | TTR | c.*52C>T (n.*52C>T) | gnomAD v4 |
| 18 | g.31598728C>A | CA2641410511 | TTR | c.*53C>A (n.*53C>A) | gnomAD v4 |
| 18 | g.31598731G>C | CA297742095 | TTR | c.*56G>C (n.*56G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598731G= | CA2293889415 | TTR | c.*56G= (n.*56G=) | |
| 18 | g.31598731G>T | CA2641410512 | TTR | c.*56G>T (n.*56G>T) | gnomAD v4 |
| 18 | g.31598733G>A | CA297742101 | TTR | c.*58G>A (n.*58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598733G= | CA2293889416 | TTR | c.*58G= (n.*58G=) | |
| 18 | g.31598735A>C | CA2641410513 | TTR | c.*60A>C (n.*60A>C) | gnomAD v4 |
| 18 | g.31598737T>A | CA2576480691 | TTR | c.*62T>A (n.*62T>A) | gnomAD v4 |
| 18 | g.31598737T>G | CA2641410514 | TTR | c.*62T>G (n.*62T>G) | gnomAD v4 |
| 18 | g.31598742T>C | CA2812000771 | TTR | c.*67T>C (n.*67T>C) | |
| 18 | g.31598745T>A | CA2641410515 | TTR | c.*70T>A (n.*70T>A) | gnomAD v4 |
| 18 | g.31598745T>C | CA2641410516 | TTR | c.*70T>C (n.*70T>C) | gnomAD v4 |
| 18 | g.31598746A>G | CA2641410517 | TTR | c.*71A>G (n.*71A>G) | gnomAD v4 |
| 18 | g.31598747C>G | CA2641410518 | TTR | c.*72C>G (n.*72C>G) | gnomAD v4 |
| 18 | g.31598748T>A | CA2641410519 | TTR | c.*73T>A (n.*73T>A) | gnomAD v4 |
| 18 | g.31598748T>C | CA2576480692 | TTR | c.*73T>C (n.*73T>C) | |
| 18 | g.31598751del | CA2641410520 | TTR | c.*76del (n.*76del) | gnomAD v4 |
| 18 | g.31598750A= | CA2293889417 | TTR | c.*75A= (n.*75A=) | |
| 18 | g.31598750A>C | CA297742110 | TTR | c.*75A>C (n.*75A>C) | dbSNP gnomAD v4 |
| 18 | g.31598750A>T | CA2641410521 | TTR | c.*75A>T (n.*75A>T) | gnomAD v4 |
| 18 | g.31598751A>C | CA2641410522 | TTR | c.*76A>C (n.*76A>C) | gnomAD v4 |
| 18 | g.31598752G= | CA2293889418 | TTR | c.*77G= (n.*77G=) | |
| 18 | g.31598752G>T | CA2293889419 | TTR | c.*77G>T (n.*77G>T) | dbSNP gnomAD v4 |
| 18 | g.31598753C>A | CA2641410523 | TTR | c.*78C>A (n.*78C>A) | gnomAD v4 |
| 18 | g.31598753C= | CA2293889420 | TTR | c.*78C= (n.*78C=) | |
| 18 | g.31598753C>T | CA297742115 | TTR | c.*78C>T (n.*78C>T) | dbSNP gnomAD v4 |
| 18 | g.31598755G>A | CA2739306887 | TTR | c.*80G>A (n.*80G>A) | |
| 18 | g.31598755G>C | CA297742121 | TTR | c.*80G>C (n.*80G>C) | dbSNP |
| 18 | g.31598755G= | CA2293889421 | TTR | c.*80G= (n.*80G=) | |
| 18 | g.31598755G>T | CA2641410524 | TTR | c.*80G>T (n.*80G>T) | gnomAD v4 |
| 18 | g.31598756T>G | CA2293889423 | TTR | c.*81T>G (n.*81T>G) | dbSNP |
| 18 | g.31598756T= | CA2293889422 | TTR | c.*81T= (n.*81T=) | |
| 18 | g.31598757G>A | CA2293889425 | TTR | c.*82G>A (n.*82G>A) | dbSNP |
| 18 | g.31598757G= | CA2293889424 | TTR | c.*82G= (n.*82G=) | |
| 18 | g.31598762C>A | CA778418613 | TTR | c.*87C>A (n.*87C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598762C= | CA2293889426 | TTR | c.*87C= (n.*87C=) | |
| 18 | g.31598762C>T | CA2641410525 | TTR | c.*87C>T (n.*87C>T) | gnomAD v4 |
| 18 | g.31598763A>T | CA2641410526 | TTR | c.*88A>T (n.*88A>T) | gnomAD v4 |
| 18 | g.31598764C>A | CA2576480693 | TTR | c.*89C>A (n.*89C>A) | gnomAD v4 |
| 18 | g.31598764C= | CA2293889427 | TTR | c.*89C= (n.*89C=) | |
| 18 | g.31598764C>T | CA988926167 | TTR | c.*89C>T (n.*89C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598765C>A | CA2641410527 | TTR | c.*90C>A (n.*90C>A) | gnomAD v4 |
| 18 | g.31598765C>T | CA2641410528 | TTR | c.*90C>T (n.*90C>T) | gnomAD v4 |
| 18 | g.31598765_31598766insACACAACCAAACACACCCAAC | CA2812000773 | TTR | c.*90_*91insACACAACCAAACACACCCAAC (n.*90_*91insACACAACCAAACACACCCAAC) | |
| 18 | g.31598766T>A | CA2812000774 | TTR | c.*91T>A (n.*91T>A) | |
| 18 | g.31598766T>C | CA2293889429 | TTR | c.*91T>C (n.*91T>C) | dbSNP gnomAD v4 |
| 18 | g.31598766T= | CA2293889428 | TTR | c.*91T= (n.*91T=) | |
| 18 | g.31598767C>A | CA2641410529 | TTR | c.*92C>A (n.*92C>A) | gnomAD v4 |
| 18 | g.31598767C= | CA2293889430 | TTR | c.*92C= (n.*92C=) | |
| 18 | g.31598767C>T | CA2293889431 | TTR | c.*92C>T (n.*92C>T) | dbSNP |
| 18 | g.31598768A>G | CA2509969684 | TTR | c.*93A>G (n.*93A>G) | gnomAD v4 |
| 18 | g.31598771T>A | CA297742123 | TTR | c.*96T>A (n.*96T>A) | dbSNP |
| 18 | g.31598771T>C | CA2576480694 | TTR | c.*96T>C (n.*96T>C) | dbSNP gnomAD v4 |
| 18 | g.31598771T>G | CA2641410530 | TTR | c.*96T>G (n.*96T>G) | gnomAD v4 |
| 18 | g.31598771T= | CA2293889432 | TTR | c.*96T= (n.*96T=) | |
| 18 | g.31598772G>A | CA2641410531 | TTR | c.*97G>A (n.*97G>A) | gnomAD v4 |
| 18 | g.31598772G>T | CA2641410532 | TTR | c.*97G>T (n.*97G>T) | gnomAD v4 |
| 18 | g.31598773C>A | CA2641410533 | TTR | c.*98C>A (n.*98C>A) | gnomAD v4 |
| 18 | g.31598774T>A | CA2576480695 | TTR | c.*99T>A (n.*99T>A) | |
| 18 | g.31598774T>C | CA2641410534 | TTR | c.*99T>C (n.*99T>C) | gnomAD v4 |