All variants in the CTU2 gene

Information The variants shown are described using the NM_001012762.1 transcript reference sequence.

494 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.47C>A r.(?) p.(Pro16Gln) - likely benign g.88772985C>A g.88706577C>A CTU2(NM_001012759.3):c.47C>A (p.P16Q) - CTU2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.119T>A r.(?) p.(Ile40Lys) - VUS g.88773594T>A - CTU2(NM_001012759.3):c.119T>A (p.(Ile40Lys)) - PIEZO1_000414 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.121C>G r.(?) p.(Arg41Gly) - VUS g.88773596C>G - CTU2(NM_001012759.3):c.121C>G (p.(Arg41Gly)) - PIEZO1_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.160T>G r.(?) p.(Phe54Val) - VUS g.88776362T>G - CTU2(NM_001318507.1):c.160T>G (p.F54V) - PIEZO1_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.161T>C r.(?) p.(Phe54Ser) - VUS g.88776363T>C - CTU2(NM_001318507.1):c.161T>C (p.F54S) - PIEZO1_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.188T>C r.(?) p.(Leu63Pro) - VUS g.88776390T>C g.88709982T>C CTU2(NM_001012759.1):c.188T>C (p.(Leu63Pro)) - CTU2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.200G>A r.(?) p.(Arg67Gln) - likely benign g.88776402G>A - CTU2(NM_001012759.1):c.200G>A (p.(Arg67Gln)) - PIEZO1_000361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.223-7C>T r.(=) p.(=) - likely benign g.88776624C>T - CTU2(NM_001012759.3):c.223-7C>T - PIEZO1_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.322G>A r.(?) p.(Ala108Thr) - likely benign g.88778082G>A g.88711674G>A CTU2(NM_001012759.1):c.322G>A (p.(Ala108Thr)) - PIEZO1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.344-109C>T r.(=) p.(=) - VUS g.88778573C>T - CTU2(NM_001318507.2):c.448C>T (p.(Arg150Cys)) - PIEZO1_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.684G>C r.(?) p.(Leu228=) - likely benign g.88779260G>C - CTU2(NM_001318507.1):c.897G>C (p.L299=) - PIEZO1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.731C>A r.(?) p.(Thr244Asn) - likely benign g.88779307C>A g.88712899C>A CTU2(NM_001012759.3):c.731C>A (p.T244N) - CTU2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.737+7C>A r.(=) p.(=) - likely benign g.88779320C>A g.88712912C>A CTU2(NM_001012759.1):c.737+7C>A (p.(=)) - PIEZO1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.737+10_737+52del r.(=) p.(=) - likely benign g.88779323_88779365del g.88712915_88712957del CTU2(NM_001012759.1):c.737+7_737+49del (p.(=)) - PIEZO1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.738-6C>T r.(=) p.(=) - likely benign g.88779714C>T - CTU2(NM_001012759.3):c.738-6C>T - CTU2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.738-6C>T r.(=) p.(=) - likely benign g.88779714C>T - CTU2(NM_001012759.3):c.738-6C>T - CTU2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.764G>C r.(?) p.(Arg255Pro) - VUS g.88779746G>C - CTU2(NM_001012759.3):c.764G>C (p.(Arg255Pro)) - PIEZO1_000343 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.835C>G r.(?) p.(Leu279Val) - VUS g.88779817C>G g.88713409C>G CTU2(NM_001012759.1):c.835C>G (p.(Leu279Val)) - CTU2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.923G>A r.(?) p.(Arg308Gln) - VUS g.88780104G>A g.88713696G>A CTU2(NM_001012759.1):c.923G>A (p.(Arg308Gln)) - CTU2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1079C>T r.(?) p.(Thr360Ile) - VUS g.88780617C>T - CTU2(NM_001012759.3):c.1079C>T (p.(Thr360Ile)) - PIEZO1_000416 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1097+14_1097+23del r.(=) p.(=) - benign g.88780649_88780658del g.88714241_88714250del CTU2(NM_001012759.1):c.1097+1_1097+10del (p.?), CTU2(NM_001012759.3):c.1097+14_1097+23delTGGGTGTGTG - CTU2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1097+14_1097+23del r.(=) p.(=) - likely benign g.88780649_88780658del g.88714241_88714250del CTU2(NM_001012759.1):c.1097+1_1097+10del (p.?), CTU2(NM_001012759.3):c.1097+14_1097+23delTGGGTGTGTG - CTU2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1202-12_1202-9del r.(=) p.(=) - VUS g.88780983_88780986del - CTU2(NM_001012759.3):c.1202-12_1202-9del - PIEZO1_000417 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1206dup r.(?) p.(Ala403CysfsTer23) - VUS g.88780999dup g.88714591dup - - PIEZO1_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1289C>T r.(?) p.(Pro430Leu) - likely benign g.88781082C>T g.88714674C>T CTU2(NM_001012759.1):c.1289C>T (p.(Pro430Leu)) - PIEZO1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1320_1321del r.(?) p.(Trp440Cysfs*19) - VUS g.88781113_88781114del - CTU2(NM_001012759.3):c.1320_1321del (p.(Trp440Cysfs*19)) - PIEZO1_000418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1323_1332del r.(?) p.(Gln442Alafs*24) - VUS g.88781116_88781125del - CTU2(NM_001012759.3):c.1323_1332del (p.(Gln442Alafs*24)) - PIEZO1_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1339G>A r.(?) p.(Gly447Arg) - likely benign g.88781132G>A g.88714724G>A CTU2(NM_001012759.1):c.1339G>A (p.(Gly447Arg)) - PIEZO1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1357G>A r.(?) p.(Asp453Asn) - likely benign g.88781272G>A - CTU2(NM_001012759.3):c.1357G>A (p.D453N) - PIEZO1_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1399C>T r.(?) p.(Arg467Cys) - likely benign g.88781314C>T g.88714906C>T CTU2(NM_001012759.1):c.1399C>T (p.(Arg467Cys)) - PIEZO1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1419+8C>A r.(=) p.(=) - VUS g.88781342C>A g.88714934C>A CTU2(NM_001012759.1):c.1419+8C>A (p.(=)) - PIEZO1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1420-122C>A r.(=) p.(=) - likely benign g.88781468C>A g.88715060C>A CTU2(NM_001318507.1):c.1645C>A (p.P549T) - PIEZO1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1420-86C>T r.(=) p.(=) - likely benign g.88781504C>T g.88715096C>T CTU2(NM_001012759.3):c.1468C>T (p.R490C) - CTU2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1451C>G r.(?) p.(Ser484Cys) - VUS g.88781621C>G g.88715213C>G CTU2(NM_001318507.1):c.1723C>G (p.L575V) - PIEZO1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*10C>T r.(=) p.(=) - likely benign g.88781638C>T - CTU2(NM_001318507.1):c.1740C>T (p.D580=) - PIEZO1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*401G>C r.(=) p.(=) - VUS g.88782029G>C g.88715621G>C PIEZO1(NM_001142864.2):c.7550C>G (p.(Thr2517Ser)), PIEZO1(NM_001142864.4):c.7550C>G (p.T2517S) - PIEZO1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*401G>C r.(=) p.(=) - VUS g.88782029G>C g.88715621G>C PIEZO1(NM_001142864.2):c.7550C>G (p.(Thr2517Ser)), PIEZO1(NM_001142864.4):c.7550C>G (p.T2517S) - PIEZO1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*421C>T r.(=) p.(=) - benign g.88782049C>T g.88715641C>T PIEZO1(NM_001142864.4):c.7530G>A (p.P2510=) - PIEZO1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*421C>T r.(=) p.(=) - likely benign g.88782049C>T - PIEZO1(NM_001142864.4):c.7530G>A (p.P2510=) - PIEZO1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*422G>A r.(=) p.(=) - likely benign g.88782050G>A g.88715642G>A PIEZO1(NM_001142864.2):c.7529C>T (p.(Pro2510Leu)), PIEZO1(NM_001142864.4):c.7529C>T (p.P2510L) - PIEZO1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*422G>A r.(=) p.(=) - likely benign g.88782050G>A - PIEZO1(NM_001142864.2):c.7529C>T (p.(Pro2510Leu)), PIEZO1(NM_001142864.4):c.7529C>T (p.P2510L) - PIEZO1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*422G>A r.(=) p.(=) - benign g.88782050G>A - PIEZO1(NM_001142864.2):c.7529C>T (p.(Pro2510Leu)), PIEZO1(NM_001142864.4):c.7529C>T (p.P2510L) - PIEZO1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*428C>T r.(=) p.(=) - VUS g.88782056C>T g.88715648C>T PIEZO1(NM_001142864.4):c.7523G>A (p.R2508H) - PIEZO1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*446T>C r.(=) p.(=) - benign g.88782074T>C g.88715666T>C PIEZO1(NM_001142864.2):c.7505A>G (p.(Lys2502Arg)), PIEZO1(NM_001142864.4):c.7505A>G (p.K2502R) - PIEZO1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*446T>C r.(=) p.(=) - likely benign g.88782074T>C - PIEZO1(NM_001142864.2):c.7505A>G (p.(Lys2502Arg)), PIEZO1(NM_001142864.4):c.7505A>G (p.K2502R) - PIEZO1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*451G>A r.(=) p.(=) - benign g.88782079G>A g.88715671G>A PIEZO1(NM_001142864.4):c.7500C>T (p.Y2500=) - PIEZO1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.*473_*478dup r.(=) p.(=) - pathogenic g.88782101_88782106dup - PIEZO1(NM_001142864.4):c.7483_7488dupCTGGAG (p.L2495_E2496dup) - PIEZO1_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*475_*480dup r.(=) p.(=) - VUS g.88782103_88782108dup - PIEZO1(NM_001142864.4):c.7472_7477dup (p.(Arg2491_Glu2492dup)), PIEZO1(NM_001142864.4):c.7472_7477dupGGGAGC (p.R2491_E2492dup) - PIEZO1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*475_*480dup r.(=) p.(=) - VUS g.88782103_88782108dup - PIEZO1(NM_001142864.4):c.7472_7477dup (p.(Arg2491_Glu2492dup)), PIEZO1(NM_001142864.4):c.7472_7477dupGGGAGC (p.R2491_E2492dup) - PIEZO1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*475_*480dup r.(=) p.(=) - VUS g.88782103_88782108dup - PIEZO1(NM_001142864.4):c.7472_7477dup (p.(Arg2491_Glu2492dup)), PIEZO1(NM_001142864.4):c.7472_7477dupGGGAGC (p.R2491_E2492dup) - PIEZO1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*480G>A r.(=) p.(=) - likely benign g.88782108G>A - PIEZO1(NM_001142864.4):c.7471C>T (p.R2491W) - PIEZO1_000323 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*488C>G r.(=) p.(=) - VUS g.88782116C>G - PIEZO1(NM_001142864.4):c.7463G>C (p.R2488P) - PIEZO1_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*524C>T r.(=) p.(=) - likely benign g.88782152C>T g.88715744C>T PIEZO1(NM_001142864.2):c.7427G>A (p.(Arg2476His)) - PIEZO1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*570C>T r.(=) p.(=) - likely benign g.88782198C>T - PIEZO1(NM_001142864.2):c.7381G>A (p.(Glu2461Lys)) - PIEZO1_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*577G>C r.(=) p.(=) - likely benign g.88782205G>C - PIEZO1(NM_001142864.4):c.7374C>G (p.F2458L) - PIEZO1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*577G>C r.(=) p.(=) - benign g.88782205G>C - PIEZO1(NM_001142864.4):c.7374C>G (p.F2458L) - PIEZO1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*577G>C r.(=) p.(=) - VUS g.88782205G>C - PIEZO1(NM_001142864.4):c.7374C>G (p.F2458L) - PIEZO1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*584C>T r.(=) p.(=) - pathogenic g.88782212C>T - PIEZO1(NM_001142864.4):c.7367G>A (p.R2456H) - PIEZO1_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.*584C>T r.(=) p.(=) - pathogenic g.88782212C>T - PIEZO1(NM_001142864.4):c.7367G>A (p.R2456H) - PIEZO1_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*588C>T r.(=) p.(=) - VUS g.88782216C>T - PIEZO1(NM_001142864.4):c.7363G>A (p.(Val2455Met)) - PIEZO1_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*589G>A r.(=) p.(=) - benign g.88782217G>A g.88715809G>A PIEZO1(NM_001142864.4):c.7362C>T (p.F2454=) - PIEZO1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*598G>A r.(=) p.(=) - likely benign g.88782226G>A g.88715818G>A PIEZO1(NM_001142864.4):c.7353C>T (p.I2451=) - PIEZO1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*619G>A r.(=) p.(=) - benign g.88782247G>A - PIEZO1(NM_001142864.2):c.7332C>T (p.(Tyr2444=)) - PIEZO1_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.*628del r.(?) p.(=) - likely pathogenic g.88782256del - PIEZO1(NM_001142864.4):c.7326delG (p.L2443Cfs*71) - PIEZO1_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.*709_*712del r.(=) p.(=) - likely benign g.88782337_88782340del g.88715929_88715932del PIEZO1(NM_001142864.2):c.7316+8_7316+11del (p.(=)) - PIEZO1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*714C>T r.(=) p.(=) - VUS g.88782342C>T g.88715934C>T PIEZO1(NM_001142864.2):c.7315G>A (p.(Gly2439Ser)) - PIEZO1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*789C>T r.(=) p.(=) - likely benign g.88782417C>T g.88716009C>T PIEZO1(NM_001142864.2):c.7240G>A (p.(Asp2414Asn)) - PIEZO1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*790G>A r.(=) p.(=) - likely benign g.88782418G>A - PIEZO1(NM_001142864.4):c.7239C>T (p.T2413=) - PIEZO1_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*835G>A r.(=) p.(=) - benign g.88782463G>A g.88716055G>A PIEZO1(NM_001142864.4):c.7194C>T (p.T2398=) - PIEZO1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*835G>A r.(=) p.(=) - likely benign g.88782463G>A - PIEZO1(NM_001142864.4):c.7194C>T (p.T2398=) - PIEZO1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*849C>T r.(=) p.(=) - likely benign g.88782477C>T - PIEZO1(NM_001142864.2):c.7180G>A (p.(Gly2394Ser)), PIEZO1(NM_001142864.4):c.7180G>A (p.G2394S) - PIEZO1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*849C>T r.(=) p.(=) - likely benign g.88782477C>T - PIEZO1(NM_001142864.2):c.7180G>A (p.(Gly2394Ser)), PIEZO1(NM_001142864.4):c.7180G>A (p.G2394S) - PIEZO1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*849C>T r.(=) p.(=) - likely benign g.88782477C>T - PIEZO1(NM_001142864.2):c.7180G>A (p.(Gly2394Ser)), PIEZO1(NM_001142864.4):c.7180G>A (p.G2394S) - PIEZO1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*872C>G r.(=) p.(=) - VUS g.88782500C>G - PIEZO1(NM_001142864.4):c.7157G>C (p.R2386P) - PIEZO1_000421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*877G>A r.(=) p.(=) - likely benign g.88782505G>A g.88716097G>A PIEZO1(NM_001142864.4):c.7152C>T (p.G2384=) - PIEZO1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*877G>A r.(=) p.(=) - likely benign g.88782505G>A - PIEZO1(NM_001142864.4):c.7152C>T (p.G2384=) - PIEZO1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*879C>T r.(=) p.(=) - VUS g.88782507C>T - PIEZO1(NM_001142864.4):c.7150G>A (p.G2384S) - PIEZO1_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*1008C>T r.(=) p.(=) - likely benign g.88782636C>T g.88716228C>T PIEZO1(NM_001142864.2):c.7099G>A (p.(Glu2367Lys)) - PIEZO1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*1015G>C r.(=) p.(=) - VUS g.88782643G>C - PIEZO1(NM_001142864.4):c.7092C>G (p.(Asn2364Lys)) - PIEZO1_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1016T>C r.(=) p.(=) - likely benign g.88782644T>C g.88716236T>C PIEZO1(NM_001142864.2):c.7091A>G (p.(Asn2364Ser)), PIEZO1(NM_001142864.4):c.7091A>G (p.N2364S) - PIEZO1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1016T>C r.(=) p.(=) - likely benign g.88782644T>C - PIEZO1(NM_001142864.2):c.7091A>G (p.(Asn2364Ser)), PIEZO1(NM_001142864.4):c.7091A>G (p.N2364S) - PIEZO1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.*1022dup r.(?) p.(=) - likely pathogenic g.88782650dup - PIEZO1(NM_001142864.4):c.7089dupC (p.N2364Qfs*15) - PIEZO1_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1048A>G r.(=) p.(=) - benign g.88782676A>G g.88716268A>G PIEZO1(NM_001142864.4):c.7059T>C (p.P2353=) - PIEZO1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1149G>A r.(=) p.(=) - likely benign g.88782777G>A g.88716369G>A PIEZO1(NM_001142864.2):c.7041C>T (p.(=)), PIEZO1(NM_001142864.4):c.7041C>T (p.D2347=) - PIEZO1_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1149G>A r.(=) p.(=) - likely benign g.88782777G>A g.88716369G>A PIEZO1(NM_001142864.2):c.7041C>T (p.(=)), PIEZO1(NM_001142864.4):c.7041C>T (p.D2347=) - PIEZO1_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1150T>G r.(=) p.(=) - likely benign g.88782778T>G - PIEZO1(NM_001142864.2):c.7040A>C (p.(Asp2347Ala)) - PIEZO1_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*1227G>A r.(=) p.(=) - benign g.88782855G>A - PIEZO1(NM_001142864.2):c.6963C>T (p.(Asn2321=)), PIEZO1(NM_001142864.4):c.6963C>T (p.N2321=) - PIEZO1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*1227G>A r.(=) p.(=) - benign g.88782855G>A - PIEZO1(NM_001142864.2):c.6963C>T (p.(Asn2321=)), PIEZO1(NM_001142864.4):c.6963C>T (p.N2321=) - PIEZO1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1263C>T r.(=) p.(=) - likely benign g.88782891C>T - PIEZO1(NM_001142864.4):c.6927G>A (p.R2309=) - PIEZO1_000404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*1334C>T r.(=) p.(=) - likely benign g.88782962C>T - PIEZO1(NM_001142864.2):c.6926+5G>A (p.?) - PIEZO1_000364 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*1360C>T r.(=) p.(=) - VUS g.88782988C>T - PIEZO1(NM_001142864.4):c.6905G>A (p.R2302H) - PIEZO1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*1374G>A r.(=) p.(=) - benign g.88783002G>A g.88716594G>A PIEZO1(NM_001142864.4):c.6891C>T (p.A2297=) - PIEZO1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1374G>A r.(=) p.(=) - benign g.88783002G>A - PIEZO1(NM_001142864.4):c.6891C>T (p.A2297=) - PIEZO1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1436G>T r.(=) p.(=) - likely benign g.88783064G>T g.88716656G>T PIEZO1(NM_001142864.2):c.6829C>A (p.(Leu2277Met)) - PIEZO1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1443G>A r.(=) p.(=) - likely benign g.88783071G>A - PIEZO1(NM_001142864.4):c.6822C>T (p.S2274=) - PIEZO1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*1447C>T r.(=) p.(=) - likely benign g.88783075C>T - PIEZO1(NM_001142864.2):c.6818G>A (p.(Ser2273Asn)), PIEZO1(NM_001142864.4):c.6818G>A (p.S2273N) - PIEZO1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1447C>T r.(=) p.(=) - VUS g.88783075C>T - PIEZO1(NM_001142864.2):c.6818G>A (p.(Ser2273Asn)), PIEZO1(NM_001142864.4):c.6818G>A (p.S2273N) - PIEZO1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1469C>T r.(=) p.(=) - likely benign g.88783097C>T - PIEZO1(NM_001142864.4):c.6796G>A (p.V2266I) - PIEZO1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1472T>C r.(=) p.(=) - benign g.88783100T>C g.88716692T>C PIEZO1(NM_001142864.4):c.6793A>G (p.I2265V) - PIEZO1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1484T>C r.(=) p.(=) - likely benign g.88783112T>C - PIEZO1(NM_001142864.2):c.6781A>G (p.(Ser2261Gly)), PIEZO1(NM_001142864.4):c.6781A>G (p.S2261G) - PIEZO1_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.